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## Clinical Features
Bonneau et al. (1983) described a family in which normal, unrelated parents had 3 children, all with polysyndactyly and a complex cardiac malformation: atrial and ventricular septal defects in 1 and cor biloculare in a second. The hexadactyly was of the first toe type (duplication of the great toe). The third and fourth fingers showed syndactyly. Hydramnios was evident by the beginning of the third trimester in each pregnancy. Karyotype was normal. One child lived 5.5 months; the other 2 were stillborn.
Rajab (1997) described the Bonneau syndrome in 2 male sibs in Oman.
Stoll and Gasser (2003) reported a 3-year-old girl, born of first-cousin parents, who had multiple congenital anomalies at birth, including left ptosis, hypertelorism, anteverted nares, large fontanel, long philtrum, nail hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. Another pregnancy of the mother was terminated; examination of the male fetus revealed facial anomalies, small penis, polysyndactyly, and ventricular septal defect with aortic dextroposition, dilation of the right heart, and small left heart. Histologic examination of the liver showed an anomaly of the ductal plate characterized by multifocal cystic nonobstructive dilation of the intraheptic bile ducts with portal tract lesions. Stoll and Gasser (2003) noted that this family lends support to autosomal inheritance of this condition.
Olgun et al. (2009) described a 2-month-old Turkish girl, born of consanguineous parents, with facial dysmorphism, complex cardiac anomalies, polysyndactyly, dysgenesis of distal extremities, and bilateral multiple renal cysts.
Inheritance
The occurrence of Bonneau syndrome in sibs and in consanguineous families supports autosomal recessive inheritance.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial dysmorphism Eyes \- Hypertelorism (some) Nose \- Anteverted nares (some) CARDIOVASCULAR Heart \- Complex cardiac malformation \- Atrial septal defect \- Ventricular septal defect \- Cor biloculare ABDOMEN Liver \- Hepatic cysts GENITOURINARY Kidneys \- Renal cysts SKELETAL Hands \- Preaxial polydactyly \- Syndactyly Feet \- Hallucal duplication SKIN, NAILS, & HAIR Nails \- Nail hypoplasia (some) PRENATAL MANIFESTATIONS Amniotic Fluid \- Hydramnios Delivery \- Stillborn or neonatal death MISCELLANEOUS \- Stillborn or death in neonatal period. ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
POLYSYNDACTYLY WITH CARDIAC MALFORMATION
|
c1849719
| 28,100 |
omim
|
https://www.omim.org/entry/263630
| 2019-09-22T16:23:15 |
{"mesh": ["C564875"], "omim": ["263630"], "orphanet": ["2934"], "synonyms": ["Alternative titles", "BONNEAU SYNDROME"]}
|
## Clinical Features
Shahin et al. (2010) reported a consanguineous Palestinian family segregating autosomal recessive prelingual nonsyndromic hearing loss.
Mapping
In a consanguineous Palestinian family segregating autosomal recessive prelingual nonsyndromic hearing loss, Shahin et al. (2010) found linkage of the disorder to a 16.5-Mb region on chromosome 9p23-p21.2 (lod score of 3.07) between markers rs4742645 and rs1471364, which they designated DFNB83. Sequencing analysis excluded mutations in the MTAP gene (156540). Shahin et al. (2010) noted that the DFNA47 locus (608652) maps within the DFNB83 region and suggested that mutations in the same gene could be responsible for both recessive and dominant hearing loss.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, prelingual bilateral MISCELLANEOUS \- Based on one consanguineous Palestinian family (last curated August 2015) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DEAFNESS, AUTOSOMAL RECESSIVE 83
|
c3888310
| 28,101 |
omim
|
https://www.omim.org/entry/613685
| 2019-09-22T15:57:50 |
{"doid": ["0110528"], "omim": ["613685"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
|
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
Silverberg et al. (2009) performed a genomewide association study involving 1,052 individuals with UC and 2,571 controls, followed by replication in 2 independent populations, all of European ancestry. In an analysis that controlled for gender and population structure, they found significant association and replication on chromosome 12q15 (combined p = 2.5 x 10(-12), combined odds ratio, 1.35) for rs1558744, a SNP that also showed transmission disequilibrium evidence for association with UC (p = 4.6 x 10(-3)). A correlated marker, rs7134599, showed association in a conditional analysis of the data (combined p = 6.0 x 10(-9)); and a third marker, rs2870946, that was only weakly correlated with the first 2, also showed suggestive evidence for association (combined p = 4.8 x 10(-7)). Residual association signals were observed when rs2870946 was paired with each of the other 2 SNPs in conditional analysis of the data, suggesting that the chromosome 12q15 locus has 2 independent association signals (rs1558744 and rs2870946) separated by recombination hotspots.
McGovern et al. (2010) combined new data from 2 genomewide association studies of ulcerative colitis involving 266,047 SNPs and performed a metaanalysis with previously published data (Silverberg et al., 2009), thus bringing together a discovery set of 2,693 European UC patients and 6,791 controls; the top results from the metaanalysis were then independently replicated with 2,009 additional European UC cases and 1,580 controls. McGovern et al. (2010) confirmed association with UC at rs1558744 and rs971545 (combined p = 4.2 x 10(-12) and 2.2 x 10(-9), respectively).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
INFLAMMATORY BOWEL DISEASE 26
|
c2675249
| 28,102 |
omim
|
https://www.omim.org/entry/612639
| 2019-09-22T16:00:55 |
{"mesh": ["C567217"], "omim": ["612639"]}
|
Chylothorax
Chest X-ray showing bilateral chylothorax
SpecialtyRespiratory medicine
SymptomsNone, breathlessness
ComplicationsDehydration, malnutrition, abnormal electrolyte levels, weakened immune system
TypesLow output, high output
CausesComplication of surgery, trauma, cancer, infections, lymph vessel abnormalities
Diagnostic methodX-ray, CT scan, thoracic MRI, fluid sampling
TreatmentRemoving fat from the diet, decreasing lymph flow, chest tube, surgery
MedicationOctreotide, midodrine, and sirolimus
Prognosis~10% risk of death
A chylothorax is an abnormal accumulation of chyle, a type of lipid-rich lymph, in the space surrounding the lung. The lymphatics of the digestive system normally returns lipids absorbed from the small bowel via the thoracic duct, which ascends behind the esophagus to drain into the left brachiocephalic vein. If normal thoracic duct drainage is disrupted, either due to obstruction or rupture, chyle can leak and accumulate within the negative-pressured pleural space. In people on a normal diet, this fluid collection can sometimes be identified by its turbid, milky white appearance, since chyle contains emulsified triglycerides.
Chylothorax is a rare but serious condition, as it signals leakage of the thoracic duct or one of its tributaries. There are many treatments, both surgical and conservative.[1] About 2-3% of all fluid collections surrounding the lungs (pleural effusions) are chylothoraces.[2] It is important to distinguish a chylothorax from a pseudochylothorax (a pleural effusion that happens to be high in cholesterol), which has a similar appearance visually but is caused by more chronic inflammatory processes and requires a different treatment.[3]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Non-traumatic
* 2.2 Traumatic
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 5.1 Initial
* 5.2 Conservative
* 5.3 Surgical
* 6 Prognosis
* 6.1 Complications
* 7 Epidemiology
* 8 Other animals
* 8.1 Horses
* 9 References
* 10 External links
## Signs and symptoms[edit]
The symptoms of a chylothorax depend its size and the underlying cause. A small chylothorax may not cause any symptoms and only be detected on a chest X-ray performed for another reason. A large chylothorax may lead to breathlessness or a feeling of pressure in the chest, caused by fluid restricting the expansion of the lungs, although large chylothoraces may remain asymptomatic if the chylothorax has accumulated slowly, as the lungs may have had time to become used to the pressure. Fever or chest pain are not usually associated with chylothorax, as chyle does not generate inflammation by itself.[4]
On examination, chylothorax may lead to reduced breath sounds on the affected side, associated with a dull sound when the chest is tapped or percussed. In cases of postoperative chylothorax, the first sign may be persistent drainage from intercostal drains.[1] Large chylothoraces may cause signs related to the loss of nutrients, including features of malnutrition or decreased ability to fight infections.[5] Rapidly accumulating chylothoraces can cause a sudden drop in blood volume, leading to low blood pressure.[5]
## Causes[edit]
There are three main types of chylothorax: traumatic, non-traumatic, and idiopathic. Historically the most common form of chylothorax was non-traumatic, but traumatic chylothoraces now represent the majority of cases, with most arising as postoperative complications of surgery.[6][7] The most common cause of non-traumatic chylothoraces is cancer.[1] Chylothoraces can also be classified as low- or high-output based on the rate of chyle accumulation: low-output chylothoraces accumulate <500 mL of chyle per 24 hours, while high-output chylothoraces accumulate >1000 mL per 24 hours.[8]
### Non-traumatic[edit]
Malignancies are the most frequent cause of non-traumatic chylothorax. Cancers like chronic lymphocytic leukemia, lung cancer, lymphoma, Kaposi sarcoma, metastatic carcinoma or esophageal cancer are potential causes of chylothorax. Infectious causes are also observed, most often in developing countries. The most common cause of an infectious chylothorax is a complication of tuberculous lymphadenitis. Other possible causative infections include aortitis, histoplasmosis, and filariasis. Chylothorax can also be congenital, and may co-occur with other lymphatic malformations like lymphangiectasis and lymphangiomatosis. Other conditions like tuberous sclerosis, congenital heart disease, trisomy 21 (Down syndrome), Noonan syndrome, or Turner syndrome (missing X chromosome) are also possible causes of congenital chylothorax. Other, more rare causes of congenital chylothorax include Castleman's disease, yellow nail syndrome, Waldenström's macroglobulinemia, sarcoidosis, venous thrombosis, thoracic radiation, macroglobulinemia, amyloidosis, and a goiter. These diseases cause chylothorax by obstructing or destroying the thoracic duct. Also, parenteral nutrition has been a possible cause; a quick dose of total parenteral nutrition can overwhelm the thoracic duct, causing the chyle to leak into the surrounding pleural space.[1]
### Traumatic[edit]
Iatrogenic chylothorax after surgery is the most common variety of chylothorax.[1] It is a common and serious complication of a pneumonectomy.[9] It is especially common in surgeries requiring mediastinal dissection.[5] The probability of chylothorax depends on the type of surgery. The surgery with the highest risk of chylothorax is an esophagostomy, with a 5-10% risk of chylothorax. Lung resection and mediastinal node dissection have the second highest risk, with 3-7% risk. Other operations like mediastinal tumor resection, thoracic aneurysm repair, sympathectomy, and any other surgeries that take place in the lower neck or the mediastinum can lead to chylothorax. Chylotharax after trauma but not after surgery has also been described after central line placement, pacemaker implantation, and embolization of a pulmonary arteriovenous malformation. Blunt trauma to the chest region is another cause of chylothorax, which has occurred after blast injuries and even simple injuries from coughing or sneezing.[1]
## Mechanism[edit]
The main mechanism of chylothorax is the leaking of chyle from the thoracic duct, usually caused by a disturbance affecting the structural integrity of the thoracic duct.[5] For example, placement of a central venous catheter can potentially disrupt drainage of lymph into the subclavian veins, followed by the thoracic duct, resulting in chylothorax.[5] The disturbances cause the pressure in the thoracic duct to increase. Soon, collateral channels form, which eventually drain into the thorax.[10] Trauma affecting the thoracic duct is the most common disturbing mechanism.
Whether a chylothorax occurs in the left or right pleural space is a consequence of the thoracic duct's anatomic location in the body and depends on the level where the duct was injured. If the thoracic duct is injured above the fifth thoracic vertebra, then a left-sided chylothorax results.[5] Conversely, a thoracic duct injury below that level will lead to the formation of a right-sided chylothorax.[5] Chylothoraces most commonly occur in the right pleural space (50% of cases).[5] Left-sided and bilateral chylothoraces are less common and occur in 33% and 17% of cases, respectively.[5]
In the case of cancer, invasion into the thoracic duct or collateral lymph channels can obstruct lymph. In the case of mediastinal lymphadenopathy, the enlarged lymph node causes compression of the lymphatic channels and thoracic duct. This impedes the centripetal drainage of the flow of lymph from the edges of the lung parenchyma and pleural surfaces. This causes the chyle to ooze extensively into the pleural cavity, leading to a chylothorax. In the case of yellow nail syndrome, or lymphedema, chylothorax is caused by hypoplasia or dilation of the lymph vessels. In rare cases, like in hepatic chylothorax, chylous ascites crosses the diaphragm into the pleural cavity. In idiopathic cases like genetic disorders, the mechanism is not known.[5] Up to three liters of chyle can easily drain into the pleural space daily.[10]
## Diagnosis[edit]
Bilateral chylothorax seen on a thoracic MRI
CT scan showing extensive chylothorax caused by leakage from the thoracic duct
Chest X-rays can detect a chylothorax. It appears as a dense, homogenous area that obscures the costophrenic and cardiophrenic angles. Ultrasounds can also detect a chylothorax, which appears as an echoic region that is isodense with no septation or loculation. However, neither a normal chest x-ray nor an ultrasound can differentiate a chylothorax from any other type of pleural effusion.[1]
The cisterna chyli can be found in a thoracic MRI, making it possible to confirm chylothorax. However, MRI is not the ideal method to scan the thorax, and so it is rarely used. Another diagnostic technique is conventional lymphangiography. It is rarely used since there are equally sensitive yet less invasive techniques available to identify a chylothorax. Lymphangiography procedures use the contrast dye agent lipiodol, which is injected into the lymphatic vessels. The chylothorax shows up on the images and identifies the source any leak in the thoracic duct.[1]
Another, more commonly used type of lymphogram is nuclear lymphoscintigraphy; this procedure requires human pentetic acid labeled Tc99m to be injected into the subcutaneous lesions of both sides of the dorsum of the foot. Then two images, anterior and posterior, are obtained using gamma-ray cameras. This test can be used with an integrated low-dose CT-scan with photon emission to get images that are more precise. Once pleural effusion is detected, a thoracentesis is recommended.[1]
The fluid of a chylothorax may appear milky, serous or serosanguineous. If the appearance of the fluid is not milky, that does not exclude a chylothorax from consideration. Since chyle is rich in triglycerides, a pleural effusion that is rich in triglycerides (>110 mg/dL) confirms the presence of a chylothorax; a pleural effusion that is low in triglyceride content (<50 mg/dL) virtually excludes the diagnosis.[11][12] If a pleural effusion contains triglycerides between 50–110 mg/dL, analysis of the lipoprotein content of the pleural effusion to evaluate for chylomicrons is recommended.[11] If that procedure detects chylomicrons in the fluid, that confirms a chylothorax. Chylothoraces are typically exudative and often contain a high number of lymphocytes and have low levels of the enzyme lactate dehydrogenase (LDH).[11] However, atypical chylothoraces can occur and are transudative in 14% of cases.[11] A milky appearance of pleural fluid is insufficient to confirm the diagnosis of chylothorax as pseudochylothoraces and empyemas can mimic this appearance.[11] Conversely, the absence of a milky appearance does not mean a chylothorax is not present as they may instead appear serous or bloody.[11]
## Treatment[edit]
Three bottles of chyle drained from a chylothorax
The treatment for chylothorax depends on the underlying cause but may include dietary modification, medication to prevent chyle formation including somatostatin/octreotide, midodrine and sirolimus, pleurodesis, and surgical treatment including ligation of the thoracic duct, pleurovenous or pleuroperitoneal shunting or thoracic duct embolization.[1]
### Initial[edit]
The initial treatment of a chylothorax is usually drainage of the fluid from the pleural space. This may be necessary to restore lung function compromised by the pressure exerted by the chyle on the lungs.[1] Those with large chylothoraces may need nutritional support due to the nutrients lost, primarily to correct protein and electrolyte losses. Once the affected person is hemodynamically and nutritionally stable, then specific treatment can begin.[5]
### Conservative[edit]
A conservative treatment is changing diet to include fewer long-chain fatty acids, in particular free fatty acids. Since chyle is formed from these acids, chyle formation will reduce, allowing the defects to heal spontaneously. However, this can lead to fat deficiency and malnutrition over time. A possible response to this drawback is a venous fat hemorrhage, in which small and medium-chain fatty acids are given by diet, and long-chain fatty acids are given intravenously. Thoracentesis and an indwelling catheter for use at home is generally used to drain the chylothorax.[1] If a malignant neoplastic chylothorax is present, then treatment with radiotherapy and/or chemotherapy is warranted.
### Surgical[edit]
Surgery is indicated if the case is post-traumatic, iatrogenic, or refractory to other treatments, in which cases surgery reduces mortality by 40%. One invasive surgical intervention called a thoracic duct ligation involves closing off the thoracic ducts.[1] Surgical pleurodesis is another option and can be undertaken if the affected person fails to respond to conservative treatment and is not a candidate for surgical intervention.[13]
Another treatment option is pleuroperitoneal shunting (creating a communication channel between the pleural space and peritoneal cavity). Since surgery to close the leak is not reliable, talc pleurodesis is recommended; in a case study of 19 people with refractory malignant chylothorax due to lymphoma, it resulted in success for all affected individuals.[5] Chemical pleurodesis is an option, since the leaking of lymphatic fluids is stopped by irritating the lungs and chest wall, resulting in a sterile inflammation. This causes the lung and the chest wall to fuse together, thus preventing lymphatic fluids from leaking into the pleural space.[14]
## Prognosis[edit]
The morbidity and mortality rates associated with chylothorax have declined as treatments have improved. Malignant, bilateral, and chronic chylothoraces have an inferior prognosis to other types.[5] Currently, the mortality and morbidity rates are about 10% if treated surgically.[1] If cases are post-operative and treated conservatively, mortality rates approach 50%.[5]
### Complications[edit]
Complications of chylothorax include malnutrition, immunosuppression, dehydration, and respiratory distress.[6] The severity of the complications depends on how quickly the chylothorax accumulated, its size, and its chronicity.[13]
## Epidemiology[edit]
Chylothoraces are rare and usually occur as a complication of surgeries in the neck and mediastinum. It has no gender or age predisposition. A chylothorax occurs in 0.2-1% of cardiothoracic surgeries, 5-10% of esophagostomies, and 3-7% of lung resections.[1]
## Other animals[edit]
### Horses[edit]
Chylothorax is uncommon in horses. Clinical signs and symptoms in foals inlude difficulty breathing, fast breathing, cough, fever, and lethargy. The fluid generally appears opalescent and milky without any odor. A line of fluid is observed on percussion and there are reduced lung sounds. To differentiate between chyle is pseudochyle, which does not clear after centrifugation. There is not much information on the treatment of chylothorax in horses. Supportive care, antimicrobials, drainage of the thorax, and dietary management have been used with success. Surgery has been done in other animals with limited success, but has not yet been reported in horses. Although success has been reported, the prognosis is relatively unknown due to the lack of data.[15]
## References[edit]
1. ^ a b c d e f g h i j k l m n o Rudrappa M, Paul M (2018). "Chylothorax". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 29083798. Retrieved 2019-03-05.
2. ^ "Chylothorax and Cholesterol Effusion". Pulmonology Advisor. 2019-01-23. Retrieved 2019-03-24.
3. ^ Heffner J. "Clinical presentation, diagnosis and management of cholesterol effusions". 8.0. UpToDate. Retrieved 30 October 2014.
4. ^ Schild, Hans H; Strassburg, Christian P; Welz, Armin; Kalff, Jörg (2013–2014). "Treatment Options in Patients With Chylothorax". Deutsches Ärzteblatt International. 110 (48): 819–826. doi:10.3238/arztebl.2013.0819. ISSN 1866-0452. PMC 3865492. PMID 24333368.
5. ^ a b c d e f g h i j k l m n Nair SK, Petko M, Hayward MP (2007). "Aetiology and management of chylothorax in adults". European Journal of Cardio-Thoracic Surgery. 32 (2): 362–9. doi:10.1016/j.ejcts.2007.04.024. PMID 17580118.
6. ^ a b Martucci, N; Tracey, M; Rocco, G (November 2015). "Postoperative Chylothorax". Thoracic Surgery Clinics. 25 (4): 523–8. doi:10.1016/j.thorsurg.2015.07.014. PMID 26515952.
7. ^ Pillay, TG; Singh, B (March 2016). "A review of traumatic chylothorax". Injury. 47 (3): 545–50. doi:10.1016/j.injury.2015.12.015. PMID 26776461.
8. ^ Lyon, S; Mott, N; Koukounaras, J; Shoobridge, J; Hudson, PV (June 2013). "Role of interventional radiology in the management of chylothorax: a review of the current management of high output chylothorax". Cardiovascular and Interventional Radiology. 36 (3): 599–607. doi:10.1007/s00270-013-0605-3. PMID 23580112. S2CID 22158968.
9. ^ Vallières, E.; Karmy-Jones, R.; Wood, D. E. (1999). "Early complications. Chylothorax". Chest Surgery Clinics of North America. 9 (3): 609–616, ix. ISSN 1052-3359. PMID 10459431.
10. ^ a b Talwar, Arunbh, and Hans J Lee. “A Contemporary Review of Chylothorax.” A Contemporary Review of Chylothorax, 2007, medind.nic.in/iae/t08/i4/iaet08i4p343.pdf.
11. ^ a b c d e f Skouras, V; Kalomenidis, I (July 2010). "Chylothorax: diagnostic approach". Current Opinion in Pulmonary Medicine. 16 (4): 387–93. doi:10.1097/MCP.0b013e328338dde2. PMID 20410823. S2CID 26096783.
12. ^ Nadolski, G (December 2016). "Nontraumatic Chylothorax: Diagnostic Algorithm and Treatment Options". Techniques in Vascular and Interventional Radiology. 19 (4): 286–90. doi:10.1053/j.tvir.2016.10.008. PMID 27993324.
13. ^ a b Kumar, Abhishek; Harris, Kassem; Roche, Charles; Dhillon, Samjot Singh (2014-11-01). "A 69-Year-Old Woman with Lymphoma and Chylothorax. Looking Beyond the Usual Suspect". Annals of the American Thoracic Society. 11 (9): 1490–1493. doi:10.1513/AnnalsATS.201406-251CC. ISSN 2329-6933. PMID 25423001.
14. ^ Sonoda, A; Jeudy, J; White, CS; Kligerman, SJ; Nitta, N; Lempel, J; Frazier, AA (May 2015). "Pleurodesis: indications and radiologic appearance". Japanese Journal of Radiology. 33 (5): 241–5. doi:10.1007/s11604-015-0412-7. PMID 25791777. S2CID 22780289.
15. ^ Weese, Scott; Munroe, Dr Graham; Munroe, Graham (2011-03-15). Equine Clinical Medicine, Surgery and Reproduction. CRC Press. p. 476. ISBN 978-1-84076-608-0.
## External links[edit]
Classification
D
* ICD-10: I89.8, B74.9 with J91
* ICD-9-CM: 457.8
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
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*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
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*[NOP]: Nociceptin receptor
*[BMI]: body mass index
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*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
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*[E2]: estradiol
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
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*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Chylothorax
|
c0008733
| 28,103 |
wikipedia
|
https://en.wikipedia.org/wiki/Chylothorax
| 2021-01-18T18:44:02 |
{"mesh": ["D002916"], "umls": ["C0008733"], "icd-9": ["457.8"], "icd-10": ["J94.0", "I89.8"], "wikidata": ["Q1090224"]}
|
Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.
## Epidemiology
Approximately 200 cases have been reported worldwide. The disease occurs more frequently in adults (40-60 years of age with a male to female ratio of 4:1).
## Clinical description
Superficial flaccid grouped pustular lesions, which spread in an annular or gyrate pattern, arise within a few hours and resolve over a few days. Pruritus and irritation occur occasionally. The lesions characteristically evolve to fine scales with crusting and, in rare cases, mild hyperpigmentation. The disease may be associated with IgA monoclonal gammopathy, multiple myeloma or pyoderma gangrenosum. Less frequently associated conditions include rheumatoid arthritis, lupus erythematosus, hyperthyroidism and hypothyroidism, polycythemia rubra vera, SAPHO syndrome (see these terms).
## Etiology
The etiology remains unknown.
## Diagnostic methods
Diagnosis is confirmed by skin biopsy demonstrating a sterile subcorneal pustule filled with neutrophils, an absence of acantholysis, and negative results from immunofluorescence studies.
## Differential diagnosis
Differential diagnosis includes the subcorneal-type of IgA pemphigus, pemphigus foliaceus, dermatitis herpetiformis, pustular psoriasis, generalized pustulosis, generalized exanthematous pustulosis and bacterial impetigo (see these terms).
## Management and treatment
Management aims at preventing the complications. A dramatic response to dapsone has been reported but not all patients respond to this drug. Other possible treatments include sulfapyridine, oral corticosteroids, retinoids, colchicines and phototherapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Subcorneal pustular dermatosis
|
c0600336
| 28,104 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48377
| 2021-01-23T17:03:50 |
{"mesh": ["D012872"], "umls": ["C0600336"], "icd-10": ["L13.1"], "synonyms": ["Pustulosis subcornealis", "Sneddon-Wilkinson disease", "Subcorneal pustular dermatitis"]}
|
Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Combined oxidative phosphorylation defect type 24
|
c4015643
| 28,105 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444458
| 2021-01-23T17:16:43 |
{"omim": ["616239"], "icd-10": ["E88.8"], "synonyms": ["COXPD24"]}
|
Winterbottom's sign
Differential diagnosisAfrican trypanosomiasis
Winterbottom's sign is a swelling of lymph nodes (lymphadenopathy) along the posterior cervical lymph node chain, associated with the early phase of African trypanosomiasis (African sleeping sickness), a disease caused by the parasites Trypanosoma brucei rhodesiense and Trypanosoma brucei gambiense. It may be suggestive of cerebral infection.[1] Winterbottom reported about the slave traders who, apparently aware of the ominous sign of swollen cervical lymph glands, used to palpate the necks of the slaves before buying them.[2][3][4]
The sign was first reported by the English physician Thomas Masterman Winterbottom in 1803.
## References[edit]
1. ^ Ormerod WE (October 1991). "Hypothesis: the significance of Winterbottom's sign". J Trop Med Hyg. 94 (5): 338–40. PMID 1942213.
2. ^ "The history of sleeping sickness".
3. ^ Miles, Tom. "The Winterbottom Catalogue". www.bl.uk.
4. ^ Cox F. History of sleeping sickness (African trypanosomiasis). Infectious Disease Clinics of North America - Volume 18, Issue 2 (June 2004)
## External links[edit]
* CDC website on trypanosomiasis
* v
* t
* e
Symptoms and signs relating to infectious diseases
Bacterial disease
* syphilis
* Hutchinson's teeth
* Hutchinson's triad
* Westphal's sign
* Clutton's joints
* Dennie–Marfan syndrome
Viral disease
* measles
* Koplik's spots
Parasitic disease
* African trypanosomiasis
* Winterbottom's sign
General
* Meningism
* Fever
* Liebermeister's rule
* Faget sign
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Winterbottom's sign
|
None
| 28,106 |
wikipedia
|
https://en.wikipedia.org/wiki/Winterbottom%27s_sign
| 2021-01-18T19:04:26 |
{"wikidata": ["Q2584991"]}
|
## Summary
### Clinical characteristics.
Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males.
### Diagnosis/testing.
Individuals with SQSD have a unique urine metabolic profile with increased saturated and unsaturated branched-chain dicarboxylic acids and glucuronides derived from farnesol. The diagnosis of squalene synthase deficiency is established in a proband with characteristic urine metabolites on urine organic acids analysis or by the identification of biallelic pathogenic variants in FDFT1 by molecular genetic testing.
### Management.
Treatment of manifestations: Currently there are no specific disease-modifying treatments. Standard treatment for epilepsy, congenital heart defects, constipation, cryptorchidism, hypospadias, spasticity, and developmental delay / intellectual disability is appropriate. Feeding therapy may be useful, although placement of a gastrostomy tube is recommended for those with dysphagia and/or poor growth. In those with visual impairment, early intervention may help to stimulate visual development. In those with sleep disturbance, a trial of melatonin may be considered.
Surveillance: At each visit: asses for new manifestations such as seizures, changes in tone, and movement disorder; monitor developmental progress, educational needs, and behavior; assess for evidence of aspiration or respiratory insufficiency; assess for evidence of sleep disorder; monitor growth, nutritional status, and signs and symptoms of constipation. Ophthalmology evaluation annually or as clinically indicated.
Agents/circumstances to avoid: Sun and UV light exposure; skin photosensitivity has produced clinically significant UV-related sunburns within ten minutes of direct sunlight exposure.
### Genetic counseling.
SQSD is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% change of being affected, a 50% change of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the FDFT1 pathogenic variants in the family are known.
## Diagnosis
Formal clinical diagnostic criteria for squalene synthase deficiency (SQSD) have not been established. However, the urine metabolic profile with increased saturated and unsaturated branched-chain dicarboxylic acids and glucuronides derived from farnesol in the appropriate clinical setting is specific for SQSD.
### Suggestive Findings
Squalene synthase deficiency should be suspected in individuals with clinical manifestations similar to Smith-Lemli-Optiz syndrome and the following clinical, laboratory, and brain MRI findings.
Clinical findings
* Dysmorphic features (See Clinical Description, Dysmorphic features.)
* Neonatal generalized seizure disorder
* Profound developmental delay
* Cortical visual impairment
* Genital malformations in males
* Dry skin with photosensitivity
Laboratory findings. Gas chromatograph - mass spectroscopy (GC-MS) and nuclear magnetic resonance spectroscopy (NMRS) of urine metabolites are listed in Table 1.
### Table 1.
Typical Urine Metabolite Profile in Squalene Synthase Deficiency
View in own window
Testing TechniqueElevated Metabolites
Urine organic acid GC-MS
* Methylsuccinic acid
* Mevalonic lactone
* 3-methylhex-2-enedioic acid
* 2,6-dimethylhept-2-enedioic acid
* 3,7-dimethyl-2,6-dienedioic
NMRS profiles
* 3-methylhex-2,4-dienedioic acid
* 3-methylhex-3,4-dienedioic acid
GC-MS = gas chromatograph - mass spectroscopy; NMRS = nuclear magnetic resonance spectroscopy
Note: A similar metabolite profile is also found in the urine of humans treated with pharmacologic inhibitors of squalene synthase or those who have taken farnesol [Jemal & Ouyang 1998, Coman et al 2018]:
* Increased plasma farnesol levels
* Plasma squalene levels that are either reduced or normal
* Fasting cholesterol studies demonstrating:
* Low normal total cholesterol level
* Reduced low-density lipoprotein cholesterol level
Brain MRI findings
* Hypoplastic corpus callosum
* Reduced white matter volume
* Polymicrogyria involving the frontal, parietal, and temporal lobes
* Optic nerve hypoplasia
### Establishing the Diagnosis
The diagnosis of SQSD is established in a proband with gas chromatograph - mass spectroscopy (GC-MS) or nuclear magnetic resonance spectroscopy (NMRS) of urine metabolites showing the characteristic profile of SQSD (see Table 1) OR confirmed by identification of biallelic pathogenic variants in FDFT1 by molecular genetic testing (see Table 2).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or multigene panel) and comprehensive genomic testing (exome sequencing or genome sequencing).
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of squalene synthase deficiency may be broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of squalene synthase deficiency has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of squalene synthase deficiency molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of FDFT1 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, gene-targeted deletion/duplication analysis should be performed to evaluate for larger intragenic deletions or duplications.
* A multigene panel that includes FDFT1 and other genes of interest (see Differential Diagnosis) is likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder, a multigene panel that also includes deletion/duplication analysis is recommended (see Table 2).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of squalene synthase deficiency is not considered because the phenotypic association with SQSD was not recognized or an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is the most commonly used genomic testing method; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in Squalene Synthase Deficiency
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
FDFT1Sequence analysis 32/3 4, 5
Gene-targeted deletion/duplication analysis 61/3 4
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Coman et al [2018]
5\.
Note that of the three described disease-associated variants to date, one – c.-75+131_-75+146del – is outside of the exon and intron/exon boundary regions typically sequenced; therefore, analysis may need to be extended into the 5'UTR to detect this variant.
6\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Coman et al [2018]) may not be detected by these methods.
## Clinical Characteristics
### Clinical Description
Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder, structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay, dry skin with photosensitivity, and genital malformations. The following information is based on three known affected individuals, two of whom are sibs [Coman et al 2018].
Neonates may present with the following features:
* Small for gestational age, including one individual with a birth weight at the tenth centile and another with an occipital frontal circumference at birth at the tenth centile
* Generalized seizures, typically presenting in the first week of life
* Neonatal hepatitis consisting of unconjugated hyperbilirubinemia and elevated liver function enzymes with normal hepatic synthetic function
Dysmorphic features may include the following (see Coman et al 2018):
* Coarse facial features
* Narrow forehead
* Epicanthus
* Depressed nasal bridge
* Low-set and posteriorly rotated ears
* Squared nasal tip
* Micrognathia and retrognathia
* 2-3 toe syndactyly
Neurologic findings may include the following:
* Generalized tonic-colonic seizures that present in the neonatal period
* Profound developmental delay. The limited number of affected individuals identified to date have been:
* Able to sit independently
* Nonambulatory
* Nonverbal
* Not able to perform any self-care
Affected individuals have varying degrees of nonverbal social communication skills ranging from no meaningful nonverbal communication/interactions to use of eye contact.
* Autistic features
* Habitual eye poking
* Irritability
* Central hypotonia, typically present at birth
* Hyperreflexia, typically present at birth
* Hypersalivation
Brain MRI findings are often nonspecific but may include the following:
* Hypoplastic corpus callosum in two sibs
* Reduced white matter volume
* Polymicrogyria involving the frontal, parietal, and temporal lobes in one affected individual
Ophthalmology. Optic nerve hypoplasia was found in two affected sibs but was absent in one unrelated affected individual. However, all three affected individuals had cortical visual impairment.
Cardiac. Bicuspid aortic valve has been described in one affected individual. It is unclear if this is a finding within the spectrum of squalene synthase deficiency or an unrelated co-occurrence.
Sleep. All three affected individuals have been described as having delayed sleep initiation. One affected individual also had poor nocturnal sleep maintenance.
Gastrointestinal. All three affected individuals had postnatal failure to thrive and required placement of a gastrostomy tube to address dysphagia and poor growth. All three also had constipation, possibly secondary to hypotonia.
Genitourinary. One affected male had bilateral cryptorchidism and the other had hypospadias without cryptorchidism. The third affected individual is female without any known genitourinary anomalies.
Musculoskeletal. Skeletal radiographs demonstrated:
* Thin gracile bones in two sibs
* Reduced bone mineralization in two sibs
* Fixed flexion joint contractures at the knees in two sibs and of the elbows in one unrelated affected individual
Skin. All three affected individuals have dry skin with photosensitivity. The two sibs both had lack of hair pigmentation on microscopy.
Biochemical findings include the following:
* Plasma total cholesterol is mildly decreased.
* Plasma HDL- and LDL-cholesterol levels are decreased or low normal range.
* Plasma total farnesol levels (the sum of free farnesol and farnesyl-pyrophosphate) are significantly increased.
* Plasma squalene levels are reduced or normal.
* Pathognomonic urine metabolic profile (See Suggestive Findings, Laboratory findings.)
### Genotype-Phenotype Correlations
Thus far, pathogenic variants have included a contiguous gene deletion, a splice acceptor site variant, and an intronic deletion in three individuals with similar features. Therefore, no clear genotype-phenotype correlations exist.
### Prevalence
The prevalence is unknown. Currently three affected individuals from two kindreds have been described [Coman et al 2018]. Both families are of European descent.
## Differential Diagnosis
Currently, ten mendelian disorders of cholesterol biosynthesis have been characterized. Of these, four overlap clinically with squalene synthase deficiency (SQSD): lanosterol synthase deficiency, lathosterolosis, Smith-Lemli-Opitz syndrome, and desmosterolosis (see Table 3). SQSD is differentiated from these disorders by the abnormal urine GC-MS and NMRS of complex, farnesol-derived dicarboxylic acids.
### Table 3.
Cholesterol Biosynthesis Disordersof Interest in the Differential Diagnosis of Squalene Synthase Deficiency
View in own window
GeneDifferential Diagnosis DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/SQSDDistinguishing from SQSD
DHCR24Desmosterolosis
(OMIM 602398)AR
* Facial dysmorphism
* Congenital heart defects
* Microcephaly
* DD & ID
* Structural brain malformations
* ↑ desmosterol
* Normal urine organic acids
DHCR7Smith-Lemli-Opitz syndromeAR
* 2-3 toe syndactyly
* DD & ID
* Facial dysmorphism
* Genital abnormalities
* Structural brain malformations
* Congenital heart defects
* Dry skin / photosensitivity
* Autism
* Low-normal plasma TC levels
* ↑ 7-dehydrocholesterol
* Normal urine organic acids
LSSLanosterol synthase deficiency 1AR
* Seizures
* DD & ID
* Structural brain malformations
* Congenital cataracts
* Hypotrichosis simplex
* Normal urine organic acids
SC5DLathosterolosis
(OMIM 607330)AR
* Microcephaly
* DD & ID
* Structural brain malformations
* Genital abnormalities
* Cataracts
* Normal urine organic acids
AR = autosomal recessive; DD = developmental delay; GC-MS = gas chromatography-mass spectrometry; ID = intellectual disability; MOI = mode of inheritance; NMRS = nuclear magnetic resonance spectroscopy; SQSD = squalene synthase deficiency; TC = total cholesterol
1\.
Besnard et al [2019]
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with squalene synthase deficiency, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended.
### Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with Squalene Synthase Deficiency
View in own window
System/ConcernEvaluationComment
NeurologicNeurologic evaluation
* To incl brain MRI
* Consider EEG if seizures are a concern.
DevelopmentDevelopmental assessment
* To incl motor, adaptive, cognitive & speech/language evaluation
* Evaluation for early intervention / special education
Psychiatric/
BehavioralNeuropsychiatric evaluationIn individuals age >12 mos: screening for presence of behavior problems incl sleep disturbances &/or traits suggestive of ASD
EyesOphthalmologic evaluationTo assess for ↓ vision & optic nerve hypoplasia
HearingAudiologic evaluationTo assess for hearing loss 1
CardiovascularClinical cardiac evaluation, w/consideration of echocardiogramTo assess for congenital structural cardiac lesions
RespiratoryConsider sleep study.If sleep initiation & maintenance are an issue
Gastrointestinal/
FeedingAssess for neonatal hepatitis, incl bilirubin concentrations (total, conjugated & unconjugated) & liver enzymes.In neonates
Gastroenterology / nutrition / feeding team evaluation
* To incl evaluation of aspiration risk, nutritional status, & for constipation
* Consider evaluation for gastric tube placement in those w/failure to thrive, dysphagia, &/or aspiration risk.
GenitourinaryGenitourinary evaluation for cryptorchidism & hypospadias in malesConsider US to assess for structural renal defects if external anomalies of the genitalia are present. 2
MusculoskeletalOrthopedics / physical medicine & rehabilitation / PT / OT evaluationTo incl assessment of:
* Gross motor & fine motor skills
* Contractures
* Mobility & activities of daily living & need for adaptive devices
* Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
IntegumentComplete skin evaluationAssess for history of photosensitivity & sunburn when exposed to UV light.
EndocrineEndocrine assessmentConsider investigating anterior & posterior pituitary function if optic nerve hypoplasia is present.
Miscellaneous/
OtherConsultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family supports/resourcesAssess:
* Use of community or online resources such as Parent To Parent;
* Need for social work involvement for parental support;
* Need for home nursing referral.
ASD = austism spectrum disorder; OT = occupational therapy; PT = physical therapy; US = ultrasound
1\.
Hearing loss has not been described as a primary feature in this condition; however, this recommendation is based on the fact that the affected individuals have intellectual impairment, which makes clinical assessment for hearing loss difficult.
2\.
No structural renal anomalies have as yet been described in affected individuals.
### Treatment of Manifestations
There are currently no specific disease modifying treatments for SQSD.
### Table 5.
Treatment of Manifestations in Individuals with Squalene Synthase Deficiency
View in own window
Manifestation/
ConcernTreatmentConsiderations/Other
EpilepsyStandardized treatment w/AEDs
* To date, no one AED has been demonstrated effective specifically for this disorder.
* Education of parents/caregivers 1
DD/IDSee Developmental Delay / Intellectual Disability Management Issues.
Central visual
impairmentNo specific treatment, but early intervention may help stimulate visual development.
Congenital heart
defectsStandard treatment per cardiologist
Sleep disturbanceConsider a trial of melatonin.
Neonatal hepatitisSupportive care
Poor weight gain /
Failure to thriveFeeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding evaluation &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Bowel dysfunctionStool softeners, prokinetics, osmotic agents or laxatives as needed
Cryptorchidism or
hypospadiasStandard surgical treatment per urologist
SpasticityOrthopedics / physical medicine & rehabilitation / PT / OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
PhotosensitivityAvoidance of sun & UV light exposureSee Agents/Circumstances to Avoid.
Family/CommunityEnsure appropriate social work involvement to connect families w/local resources, respite, & support.Ongoing assessment of need for palliative care involvement &/or home nursing
Care coordination to manage multiple subspecialty appointments, equipment, medications, & suppliesConsider involvement in adaptive sports or Special Olympics.
AED = antiepileptic drug; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy
1\.
Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy & My Child Toolkit.
#### Developmental Disability / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States (US); standard recommendations may vary from country to country
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center-based; for children too medically unstable to attend, home-based services are provided.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. An IEP may be considered:
* An IEP provides specially designed instruction and related services to children who qualify.
* IEP services will be reviewed annually to determine if any changes are needed.
* As required by special education law, children should be in the least restricted environment feasible at school and included in general education as much as possible and when appropriate.
* Vision and hearing consultants should be a part of the child's IEP team to support access to academic material.
* PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child’s access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
* As a child enters teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.
#### Motor Dysfunction
Gross motor dysfunction
* Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).
* Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).
* For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, tizanidine, Botox®, anti-parkinsonian medications, or orthopedic procedures.
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Oral motor dysfunction should be assessed at each visit and clinical feeding evaluations and/or radiographic swallowing studies should be obtained for choking/gagging during feeds, poor weight gain, frequent respiratory illnesses or feeding refusal that is not otherwise explained. Assuming that the child is safe to eat by mouth, feeding therapy (typically by an occupational or speech therapist) is recommended to help improve coordination or sensory-related feeding issues. Feeds can be thickened or chilled for safety. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech and in many cases, can improve it.
#### Social/Behavioral Concerns
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary.
Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.
### Surveillance
The authors recommend general care as outlined in Table 6.
### Table 6.
Recommended Surveillance for Individuals with Squalene Synthase Deficiency
View in own window
System/ConcernEvaluationFrequency
NeurologicMonitor those w/seizures as clinically indicated.At each visit
Assess for new manifestations incl seizures, changes in tone, movement disorders.
DevelopmentMonitor developmental progress & educational needs.
Psychiatric/
BehavioralBehavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
EyesOphthalmology evaluation w/vision assessmentAnnually or as clinically indicated
RespiratoryAssess for evidence of:
* Aspiration or respiratory insufficiency;
* Sleep disorder.
At each visit
Feeding
* Measurement of growth parameters
* Evaluation of nutritional status & safety of oral intake
GastrointestinalMonitor for constipation.
MusculoskeletalAssess need for physical medicine, OT/PT, self-help skills assistance.
Miscellaneous/
OtherAssess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
OT = occupational therapy; PT = physical therapy
### Agents/Circumstances to Avoid
The skin photosensitivity has produced clinically significant UV-related sunburns within ten minutes of direct sunlight exposure. Skin care and UV protection is recommended (see Table 4).
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Squalene Synthase Deficiency
|
None
| 28,107 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK553533/
| 2021-01-18T20:53:39 |
{"synonyms": []}
|
A number sign (#) is used with this entry because arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is caused by homozygous or compound heterozygous mutation in the VPS33B gene (608552) on chromosome 15q26.
Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).
Clinical Features
In 4 male sibs from a sibship of 7 of North African descent, Nezelof et al. (1979) observed arthrogryposis multiplex congenita with jaundice and renal dysfunction. Death occurred at 2 months, 12 days, 22 days and 42 weeks of age. Autopsy showed rarefaction of the anterior horn of the spinal cord, renal tubular cell degeneration with nephrocalcinosis, and abundant pigmentary deposits in the liver which gave it a grossly black color similar to that of the Dubin-Johnson syndrome (237500). In the mother's family, 8 other males had died at birth or shortly thereafter, suggesting X-linked recessive inheritance to the authors.
Mikati et al. (1984) and Mikati (2007) described 2 Lebanese brothers with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. Dysmorphic features included micrognathia, low-set ears, high-arched palate, barrel-shaped chest, bilateral simian creases, clubfeet, and congenital hip dislocation. They both had conjugated hyperbilirubinemia, repeated infections, severe failure to thrive, and right ventricular hypertrophy. Liver biopsy revealed paucity of bile ducts, bile stasis, and some inflammatory cell infiltration. Immunologic investigation suggested a defect in polymorphonuclear cell migration and intracellular killing. Both died before 4 months of age.
Di Rocco et al. (1990) reported another family in which the second-born child of first-cousin parents had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of the motor neuron cells in the anterior horns of the spinal cord. The family of Di Rocco et al. (1990) is, of course, consistent with either autosomal recessive or X-linked recessive inheritance.
Horslen et al. (1994) described 3 cases from 2 unrelated families and reviewed 10 other cases from the literature. The association of arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi syndrome was first reported by Lutz-Richner and Landolt (1973). Of the 13 cases, including their own, Horslen et al. (1994) found that all of the parents were consanguineous and that all of the patients were male except for a single patient reported by Saraiva et al. (1990). All patients died in the first months of life. Although it had been claimed that there were 2 separate forms of this disorder, one with a paucity of intrahepatic bile ducts and giant cell transformation of hepatocytes and the other with pigment deposition in liver cells and marked cholestasis, Horslen et al. (1994) proposed, based on the histologic findings in one of their cases, that all cases represent variation within a single disorder.
The disorder reported in entry 210550 (biliary malformation with renal tubular insufficiency) may represent the ARC syndrome. Di Rocco et al. (1995) described 2 new families and compared clinical and pathologic findings of 5 patients from 3 Italian families with other reported cases. They proposed that all the patients reported to that time represented a single syndrome.
Abu-Sa'da et al. (2005) reported 2 infants from different consanguineous Saudi families with lethal ARC syndrome. Common clinical features included failure to thrive, jaundice, ichthyosis, generalized arthrogryposis, and hypotonia. Laboratory studies showed conjugated bilirubinemia, metabolic acidosis, and renal tubular dysfunction with Fanconi syndrome. One of the patients had nephrocalcinosis, nephrogenic diabetes insipidus, and lissencephaly. They died at ages 7 and 3 months, respectively. Abu-Sa'da et al. (2005) provided a review of the literature on ARC syndrome and noted the variability of symptoms.
Gissen et al. (2006) characterized clinical features of 62 individuals with ARCS from 35 families (11 of which had previously been reported). In addition to classic features previously described, all patients had severe failure to thrive that was not adequately explained by the degree of liver disease, and 10% had structural cardiac defects. Almost half of patients who underwent diagnostic organ biopsy (7 of 16 patients) developed life-threatening hemorrhage, and most patients (9 of 11) who suffered severe hemorrhage (7 post-biopsy and 4 spontaneous) had normal platelet count and morphology.
Smith et al. (2012) studied an unrelated boy and girl who both had relatively mild ARCS. The boy, who was of nonconsanguineous Peruvian and Puerto Rican descent, exhibited failure to thrive, developmental delay with sensorineural hearing loss, renal loss of protein and amino acids, bilateral talipes with osteopenia, and mild cholestasis. MRI showed dysmorphic ventricles with coaptation of the occipital horns and irregular lateral-ventricular marginal contours. Refractory pruritus and ichthyosis were associated with increased serum concentrations of bile acids; the pruritus responded to cutaneous biliary diversion at 3 years of age. At 5.5 years of age, the boy had severe hyperkeratosis and lichenification of hand skin that interfered with fine motor tasks, including using sign language. He had osteopenia with shortening of the proximal fibula, generalized aminoaciduria and nephrotic-range proteinuria, and recurrent episodes of epistaxis associated with the absence of platelet alpha-granules. The girl, who was born to Puerto Rican and Jualisco Mexican parents, was diagnosed with arthrogryposis and failure to thrive at 2 weeks of age. She had renal tubular dysfunction, mild cholestasis, hyperpigmented lichenified skin, bilateral hip dislocations, decreased muscle bulk, and sensorineural hearing loss. MRI at 14 months showed a thin corpus callosum and diffuse paucity of white matter. Additional features included weak dental enamel and easily chipped teeth.
Inheritance
Because of the exclusive involvement of males in early reports of this disorder and the finding in the family reported by Nezelof et al. (1979) of a large number of males on the mother's side of the family who had died at birth or shortly thereafter, this disorder had been classified as X-linked recessive. The occurrence of a female case and the universal occurrence of parental consanguinity is strong support for autosomal recessive inheritance.
Molecular Genetics
To elucidate the molecular basis of ARCS, Gissen et al. (2004) mapped the disorder to a 7-cM interval on 15q26.1 and identified germline mutations in the gene VPS33B (see, e.g., 608552.0001-608552.0003) in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting protein, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.
Gissen et al. (2006) characterized molecular features of 62 individuals with ARCS from 35 families (11 of which had been previously reported). Germline VPS33B mutations were present in 28 of 35 families (48 of 62 individuals); heterozygosity was found in the VPS33B locus in some cases of ARCS, suggesting the possibility of a second ARC syndrome gene. Gissen et al. (2006) concluded that VPS33B analysis should replace organ biopsy as a first-line diagnostic test for ARC syndrome.
In a male infant, born of first-cousin Saudi Arabian parents, with contracture deformities and multiple bone fractures at birth, Taha et al. (2007) identified compound heterozygosity for the known R438X mutation (608552.0002) and a splice site mutation (608552.0004) in the VPS33B gene. The authors commented that presentation of ARC syndrome with osteopenia and fractures at birth is unusual and can be misleading during the neonatal period when other components of the syndrome may not be evident; they also noted that compound heterozygosity is a very rare finding in a child of consanguineous parents.
In an unrelated boy and girl with relatively mild ARCS, Smith et al. (2012) identified compound heterozygosity for a splice site mutation in the VPS33B gene (608552.0005) and 2 different frameshift mutations (608552.0006 and 608552.0007, respectively). In transfection studies with co-overexpression of VIPAR (613401) and a VPS33B missense mutation (L30P; 608552.0003) that is associated with a more severe ARCS phenotype, Smith et al. (2012) observed no colocalization; however, in studies of VIPAR and the VPS33B splice site mutation, there was evidence for aggregates containing both VPS33B and VIPAR, suggesting that some of the function of the VPS33B-VIPAR complex might be retained with the splice site mutation.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly Face \- Sloping forehead \- Micrognathia Ears \- Low-set ears CARDIOVASCULAR Heart \- Structural cardiac defects (uncommon) \- Atrial septal defects \- Ventricular septal defects \- Persistent foramen ovale \- Right ventricular hypertrophy (reported in 2 sibs) ABDOMEN Liver \- Cholestatic liver disease \- Bile duct abnormalities (paucity, proliferation) \- Giant cell hepatitis \- Pigmentary deposits \- Portal tract fibrosis GENITOURINARY Kidneys \- Renal tubular acidosis \- Fanconi syndrome \- Nephropathy \- Nephrocalcinosis \- Nephrogenic diabetes insipidus (less common) \- Renal tubular degeneration SKELETAL \- Arthrogryposis multiplex congenita \- Fractures at birth Pelvis \- Hip dysplasia Feet \- Talipes calcaneovalgus SKIN, NAILS, & HAIR Skin \- Ichthyosis \- Jaundice NEUROLOGIC Central Nervous System \- Global developmental delay \- Hypotonia \- Lissencephaly (reported in 1 patient) METABOLIC FEATURES \- Metabolic acidosis HEMATOLOGY \- Severe bleeding after biopsies (uncommon) IMMUNOLOGY \- Recurrent febrile illnesses \- B and T cell defects (reported in 2 sibs) LABORATORY ABNORMALITIES \- Conjugated hyperbilirubinemia \- Abnormal liver function tests MISCELLANEOUS \- Death in infancy, usually from sepsis, dehydration, or acidosis MOLECULAR BASIS \- Caused by mutation in the yeast homolog, B, of the vacuolar protein sorting 33 gene (VPS33B, 608552.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
|
c1859722
| 28,108 |
omim
|
https://www.omim.org/entry/208085
| 2019-09-22T16:30:51 |
{"doid": ["0111353"], "mesh": ["C535382"], "omim": ["208085"], "orphanet": ["2697"], "synonyms": ["Alternative titles", "ARC SYNDROME"]}
|
A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
## Epidemiology
About 60 cases of Refsum disease (RD) have been reported worldwide. Prevalence rates are not known but the disorder may be underdiagnosed. Prevalence has been estimated to be 1/1,000,000 in the United Kingdom. Males and females are affected equally.
## Clinical description
Age of onset ranges is childhood to over 50 years of age but may be difficult to determine. Retinitis pigmentosa is often the first sign and is found in almost all patients. Onset of night blindness in childhood is common. Cataract and nystagmus may be found later on. Anosmia is a universal clinical manifestation. Symmetric mild-to-profound sensorineural hearing loss, ataxia of late onset causing an unsteady gait, and more rarely mild generalized ichthyosis may develop subsequently. Mixed motor and sensory neuropathy may also be found, causing muscular atrophy, weakness, and peripheral sensory disturbances. Autism spectrum disorder and attention deficit-hyperactivity disorder (AD-HD) are also reported. Short metacarpals and metatarsals at birth are found in about 1/3 of cases. Cardiac arrhythmia and cardiomyopathy causing heart failure are also reported.
## Etiology
RD is caused by mutations in the PHYH gene (10p13) in more than 90% of cases, and mutations in the PEX7 gene (6q21-q22.2) in less than 10%. These genes are involved in lipid metabolism and protein transport. The pathogenic mechanism is related to the accumulation of phytanic acid, which is predominantly (>90%) degraded by alpha-oxidation in peroxisomes.
## Diagnostic methods
The diagnosis is based on clinical manifestations including retinitis pigmentosa and variable combinations of the other features. The interval between initial signs and diagnosis may exceed 10 years. All classic disease manifestations are rarely found in a single affected person. Analysis of phytanic acid concentrations in plasma or serum shows abnormal levels generally above 200 micromol/L. Enzymatic fibroblast analysis and molecular genetic testing of the causative genes are required to confirm the diagnosis.
## Differential diagnosis
Other causes of retinitis pigmentosa and sensorineural hearing loss should be considered in the differential diagnosis (Usher syndromes, types 1, 2, and 3; Alström syndrome; Kearns-Sayre syndrome; Sjögren-Larsson syndrome). Refsum disease should not be confused with infantile Refsum disease a misnomer that belongs to the Zellweger syndrome spectrum.
## Antenatal diagnosis
Prenatal diagnosis can be performed if a disease-causing mutation is known in the family.
## Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.
## Management and treatment
Phytanic acid is obtained from the diet, particularly from meat and dairy products. Dietary restriction helps to control sensory neuropathy, myopathy, ataxia and ichthyosis. In acute presentations (arrhythmia, weakness), plasmapheresis or lipapheresis may be useful. Supportive treatment includes hydrating creams, anti-arrhythmics, and cardiac medication. Bilateral cochlear implantation may be considered for severe hearing loss. Cardiac and ophthalmological monitoring is required. Rapid weight loss should be prevented (e.g. during hospital admission) because that can cause rapid increase in plasma phytanic acid levels.
## Prognosis
Prognosis in the absence of treatment is generally poor. Severe cases or late diagnosis may be life-threatening. The main cause of death is arrhythmia and heart failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Refsum disease
|
c0034960
| 28,109 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=773
| 2021-01-23T18:11:40 |
{"gard": ["5691"], "mesh": ["D012035"], "omim": ["266500", "614879"], "umls": ["C0034960"], "icd-10": ["G60.1"], "synonyms": ["Adult Refsum disease", "Classic Refsum disease", "HMSN 4", "HMSN IV", "Hereditary motor and sensory neuropathy type 4", "Hereditary motor and sensory neuropathy type IV", "Heredopathia atactica polyneuritiformis", "Phytanic-CoA hydroxylase deficiency"]}
|
## Clinical Features
Sugai et al. (1965) described a Japanese mother and daughter with congenital symmetric depigmentation of the periungual regions of the hands and feet. The depigmented areas appeared distal from the nail folds soon after birth, gradually enlarged to reach the distal interphalangeal joints in adolescence, and remained constant thereafter. The depigmented lesions, which contained dopa-negative melanocytes, were sharply demarcated with normal pigmentation. No hyperpigmented areas were observed.
Inheritance \- Autosomal dominant Skin \- Symmetric great toe depigmentation ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ACROLEUKOPATHY, SYMMETRIC
|
c1863342
| 28,110 |
omim
|
https://www.omim.org/entry/102000
| 2019-09-22T16:45:27 |
{"mesh": ["C566322"], "omim": ["102000"]}
|
A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CHAND syndrome
|
c0406733
| 28,111 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1401
| 2021-01-23T19:07:20 |
{"gard": ["1233"], "mesh": ["C538074"], "omim": ["214350"], "umls": ["C0406733"], "synonyms": ["Baughman syndrome", "CHANDS", "Curly hair-ankyloblepharon-nail dysplasia syndrome"]}
|
## Clinical Features
Poduslo et al. (1999) described a man with a family history of dementia who presented with the clinical signs of Alzheimer disease, which began at age 65 and lasted for 13 years. At autopsy, the brain tissue had amyloid-containing neuritic plaques, but no neurofibrillary tangles (i.e., the tissue was negative for staining with tau antibody).
Mapping
Genetic analysis of DNA from family members of the patient of Poduslo et al. (1999) revealed no linkage with chromosome 17 markers, indicating that the disorder was not frontotemporal lobe dementia (600274). Because of the report of a nonspecific dementia linked to markers on chromosome 3 (600795), linkage with those markers was also examined in this family. Linkage to chromosome 3 markers was found, but the location of the gene appeared to be somewhat different from that determined in the Danish family studied by Brown et al. (1995).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES
|
c1858751
| 28,112 |
omim
|
https://www.omim.org/entry/604154
| 2019-09-22T16:12:26 |
{"mesh": ["C536599"], "omim": ["604154"]}
|
A bunion, known technically as hallux valgus, is a bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the toe to move out of place, leaning inward toward the second toe. Because this joint carries a lot of weight during activities like standing and walking, bunions can cause foot pain, stiffness, redness, and swelling. Calluses may form where the big toe and second toe rub together or on the ball of the foot. Unless they are treated, bunions get worse over time, and it may become difficult to wear regular shoes or walk without pain. Bunions can occur in one or both feet.
In most cases, bunions develop in adulthood. Rarely, children may be born with bunions (known as congenital hallux valgus) or develop them later in childhood (juvenile or adolescent hallux valgus).
## Frequency
Bunions are a very common foot disorder, affecting about a third of adults in the United States. The prevalence of bunions increases with age. They are more common in women than in men, likely because of differences in foot anatomy, footwear, and genetic influences.
## Causes
The causes of bunions are unclear, although scientists suspect that both inherited and lifestyle factors contribute to their development. Studies suggest that congenital and juvenile hallux valgus tend to be related to joint deformities with a genetic cause. Little is known about the genetic contribution to bunions that occur later in life, and no specific genes involved in the development of bunions have been identified.
For bunions that appear in adulthood, inherited factors related to the shape and structure of the foot and the way the foot moves (foot mechanics) likely influence a person's risk of developing the condition. It has long been suggested that wearing ill-fitting shoes are another significant risk factor, specifically shoes that are too tight, shoes with high heels, or shoes with a narrow toe box. Research suggests that poorly fitting shoes probably do not cause bunions, but they may make bunions develop earlier or worsen more quickly in people with an underlying susceptibility.
Other risk factors for bunions include inflammatory diseases (such as rheumatoid arthritis), osteoarthritis, and flat feet (pes planus). Bunions are also a feature of several rare genetic syndromes that affect bone development, including Chitayat syndrome and fibrodysplasia ossificans progressiva.
## Inheritance Pattern
Bunions are a complex condition without a clear pattern of inheritance. Many affected individuals have multiple family members who are also affected. The risk of developing bunions is greater for first-degree relatives of affected individuals (such as siblings or children) as compared to the general public.
When bunions occur as part of a genetic syndrome, this feature follows the inheritance pattern of the syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Bunion
|
c0006386
| 28,113 |
medlineplus
|
https://medlineplus.gov/genetics/condition/bunion/
| 2021-01-27T08:25:26 |
{"mesh": ["D000071378"], "synonyms": []}
|
A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly Staphylococcus and Streptococcus species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Infective endocarditis
|
c1541923
| 28,114 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=570762
| 2021-01-23T19:08:46 |
{"mesh": ["D004696"], "synonyms": ["Bacterial endocarditis", "Infectious endocarditis"]}
|
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (August 2009) (Learn how and when to remove this template message)
A Labrador Retriever with Limber Tail Syndrome.
Limber tail syndrome, or acute caudal myopathy, is a disorder of the muscles in the tail, usually affecting working dogs.[1]
It is an injury occurring mostly in sporting or working dogs such as English Pointers, English Setters, Foxhounds, Beagles, and Labrador Retrievers. Limber tail syndrome is also known as swimmer's tail, cold water tail, broken tail, dead tail, "happy tail" or broken wag.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Treatment
* 4 References
## Signs and symptoms[edit]
The injury affects the tail of the dog, causing it to be painful at or near its base. Limber tail can be recognized by a very flaccid tail, or a tail that is held horizontally for approximately 10 cm, and then drops vertically. The condition is also more pronounced in dogs that wag their tails a lot.
## Cause[edit]
Limber tail normally occurs shortly (within 24 hours) after swimming in water that is too cold or, on rare occasions, too warm.[citation needed] The actual cause is unknown but it may be caused by the narrowing of the space through which the spinal cord passes, typically due to degenerative change to the inter vertebral disk spaces.[citation needed] These underlying changes may not lead to visible change until the problem is suddenly exacerbated, such as during physical activity, after trauma, etc. Occasionally other changes are seen prior to or in conjunction with limber tail disease, such as urinary or fecal incontinence, postural abnormalities in the pelvic limb, or pain in response to touching the lower back.
## Treatment[edit]
With rest, the tail returns to normal within a few days.[2] Pain relief, such as a nonsteroidal anti-inflammatory drug may be administered.[2] The symptoms may recur.[2]
## References[edit]
1. ^ De Lahunta, Alexander; Glass, Eric (2009). "Limber tail syndrome, or acute caudal myopathy". Veterinary Neuroanatomy and Clinical Neurology (3rd ed.). Saunders Elsevier. pp. 113–114. ISBN 978-0-7216-6706-5.
2. ^ a b c Henderson, AL; Latimer, C; Millis, DL (January 2015). "Rehabilitation and physical therapy for selected orthopedic conditions in veterinary patients". The Veterinary clinics of North America. Small animal practice. 45 (1): 91–121. doi:10.1016/j.cvsm.2014.09.006. PMID 25432683.
* Steiss, Janet E. & Wright, J.C., Limber Tail Syndrome in Hunting Dogs, Sports Medicine Program Newsletter, Auburn University College of Veterinary Medicine, Winter 1995
* Grayson, Peggy, Water and the dead tail syndrome, Dog World, May 5, 1995
* Steiss, J; Braund, K; Wright, J; Lenz, S; Hudson, J; Brawner, W; Hathcock, J; Purohit, R; Bell, L; Horne, R (1999). "Coccygeal muscle injury in English Pointers (limber tail)". Journal of Veterinary Internal Medicine. 13 (6): 540–8. doi:10.1111/j.1939-1676.1999.tb02207.x. PMID 10587253.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Limber tail syndrome
|
None
| 28,115 |
wikipedia
|
https://en.wikipedia.org/wiki/Limber_tail_syndrome
| 2021-01-18T18:47:42 |
{"wikidata": ["Q1778998"]}
|
Focal lung pneumatosis
CT scan of the lung showing bullae in the lower lung lobes of a subject with type alpha-1-antitrypsin deficiency. There is also increased lung density in areas with compression of lung tissue by the bullae.
SpecialtyRespiratory
A focal lung pneumatosis is a pocket of air (pneumatosis) in the parenchyma of the lungs, larger than the alveolus. A focal lung pneumatosis can be classified by its wall thickness. Blebs or bullae are also known as focal regions of emphysema.[1]
* A bleb has a wall thickness of less than 1 mm.[2] By radiology definition, it is up to 1 cm in total size.[3] By pathology definition, it originates in the pleurae (rather than in the lung parenchyma).[4]
* A bulla has a wall thickness of less than 1 mm.[2] By radiology definition, is has a total size of greater than 1 cm.[3] By pathology definition, it originates in the lung parenchyma (rather than in the pleurae).[4]
* A cyst has a wall thickness of up to 4 mm.[2] A minimum wall thickness of 1 mm has been suggested,[2] but thin-walled pockets may be included in the definition as well.[5]
* A cavity has a wall thickness of more than 4 mm[2]
The terms above, when referring to sites other than the lungs, often imply fluid content.
Cysts are seen in about 8% of the general population, with an increased prevalence in older people.[5] They may be part of the aging changes of the lungs, and cause a slight decrease in their diffusing capacity.[5] The presence of multiple pulmonary cysts may indicate a need to evaluate the possibility of bullous or cystic lung diseases.[5] Cavitation indicates workup for serious infection or lung cancer.
## Contents
* 1 Bleb or bulla
* 2 Cyst
* 3 Incidental blebs and cysts
* 4 Cavity
* 5 References
## Bleb or bulla[edit]
The most common disease causing blebs or bullae is chronic obstructive pulmonary disease (COPD).[6] The pathophysiologic process in this case is emphysema, which is the breakdown of the walls of the alveoli.
Other conditions associated with lung bullae are:
* Alpha 1-antitrypsin deficiency[6]
* Marfan syndrome[6]
* Ehlers–Danlos syndromes[6]
* Cocaine smoking[6]
* Sarcoidosis[6]
* HIV/AIDS[6]
* Intravenous substance abuse[6]
## Cyst[edit]
A pulmonary cyst is not necessarily the same type of cyst seen in many cystic lung diseases. The cyst for example in pneumocystis pneumonia is not the same as the pulmonary cyst.[citation needed]
CT scan of lymphocytic interstitial pneumonia with cysts.
CT scan of multiple lung cysts in pneumocystis pneumonia.
Cystic lung diseases include:
* Langerhans cell histiocytosis (LCH)[5]
* Lymphangioleiomyomatosis (LAM)[5]
* Lymphocytic interstitial pneumonia (LIP)[5]
* Birt–Hogg–Dubé syndrome[7]
* Pneumocystis pneumonia[7]
* Amyloidosis[7]
* Light chain deposition disease[7]
* Lung metastases rarely cause multiple cystic lung lesions. This form of presentation has been described in metastatic sarcomas.[7]
## Incidental blebs and cysts[edit]
A focal lung pneumatosis that is an incidental imaging finding such as on a CT scan, without suspicious findings (such as findings indicating any of the diseases listed above), generally does not indicate further follow-up.[8]
## Cavity[edit]
Cavitation, in this case aspergilloma).[9]
See also: Cavitary pneumonia
Two infectious diseases that are commonly associated with cavities of lung tissue are Mycobacterium tuberculosis and Klebsiella pneumoniae. The formation of cavities is due to tissue necrosis and creates an environment that allows the pathogen to expand in numbers and spread further.[10]
In the absence of infectious symptoms, a lung nodule with cavitation is a suspected lung cancer.[9]
## References[edit]
1. ^ Gaillard, Frank. "Pulmonary bullae | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 16 June 2019.
2. ^ a b c d e Dr Daniel J Bell and Dr Yuranga Weerakkody. "Pulmonary cyst". Radiopaedia. Retrieved 2019-05-01.
3. ^ a b Hansell, DM.; Bankier, AA.; MacMahon, H.; McLoud, TC.; Müller, NL.; Remy, J. (March 2008). "Fleischner Society: glossary of terms for thoracic imaging". Radiology. 246 (3): 697–722. doi:10.1148/radiol.2462070712. PMID 18195376.
4. ^ a b Katzenstein (2016). Diagnostic atlas of non-neoplastic lung disease : a practical guide for surgical pathologists. New York, NY: Demos Medical Publishing, LLC/Springer Publishing Company. ISBN 978-1-61705-229-3. OCLC 951217791.
5. ^ a b c d e f g Araki, Tetsuro; Nishino, Mizuki; Gao, Wei; Dupuis, Josée; Putman, Rachel K; Washko, George R; Hunninghake, Gary M; O'Connor, George T; Hatabu, Hiroto (2015). "Pulmonary cysts identified on chest CT: are they part of aging change or of clinical significance?". Thorax. 70 (12): 1156–1162. doi:10.1136/thoraxjnl-2015-207653. ISSN 0040-6376. PMC 4848007. PMID 26514407.
6. ^ a b c d e f g h Neerja Gulati (2019-03-11). "Bullectomy". Medscape. Updated: Feb 21, 2019
7. ^ a b c d e Ferreira Francisco, Flavia Angélica; Soares Souza, Arthur; Zanetti, Gláucia; Marchiori, Edson (2015). "Multiple cystic lung disease". European Respiratory Review. 24 (138): 552–564. doi:10.1183/16000617.0046-2015. ISSN 0905-9180. PMID 26621970.
8. ^ Beddy, Peter; Babar, Judith; Devaraj, Anand (2010). "A practical approach to cystic lung disease on HRCT". Insights into Imaging. 2 (1): 1–7. doi:10.1007/s13244-010-0050-7. ISSN 1869-4101. PMC 3259352. PMID 22347931.
9. ^ a b Snoeckx, Annemie; Reyntiens, Pieter; Desbuquoit, Damien; Spinhoven, Maarten J.; Van Schil, Paul E.; van Meerbeeck, Jan P.; Parizel, Paul M. (2017). "Evaluation of the solitary pulmonary nodule: size matters, but do not ignore the power of morphology". Insights into Imaging. 9 (1): 73–86. doi:10.1007/s13244-017-0581-2. ISSN 1869-4101. PMC 5825309. PMID 29143191.
10. ^ Gadkowski, L. Beth; Stout, Jason E. (9 April 2008). "Cavitary pulmonary disease". Clinical Microbiology Reviews. 21 (2): 305–333. doi:10.1128/CMR.00060-07. PMC 2292573. PMID 18400799.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Focal lung pneumatosis
|
c0546483
| 28,116 |
wikipedia
|
https://en.wikipedia.org/wiki/Focal_lung_pneumatosis
| 2021-01-18T19:00:27 |
{"umls": ["C0546483"], "icd-10": ["J98.4"], "wikidata": ["Q1494009"]}
|
A number sign (#) is used with this entry because the phenotype associated with xeroderma pigmentosum complementation group B (XPB) is caused by mutation in the DNA excision repair gene ERCC3 (133510) on chromosome 2q14.
Description
For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400).
Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.
Clinical Features
Lehmann (1982) performed cell fusion studies on cultured cells from 11 patients with Cockayne syndrome. The 11 cell lines were assigned to 3 complementation groups: 2 to group A, 8 to group B, and 1 to group C. The group C patient was thought to have xeroderma pigmentosum also and was the sole known representative of the XP complementation group B. The patient had clinical as well as biologic features of both disorders.
Robbins et al. (1974) reported a young woman with xeroderma pigmentosum complementation group B. She presented with numerous cutaneous malignancies before she was 18 years old. Oh et al. (2006) provided a follow-up of this patient, who was the first identified with XP complementation group B. She had severe features of XP, including extreme sensitivity to sunlight, pigmentation abnormalities, and multiple skin cancers. She also had severe features of Cockayne syndrome, including wizened facial appearance, dwarfism, sensorineural deafness, microcephaly, severe mental retardation, microphthalmia, cataracts, optic atrophy, pigmentary retinal degeneration, hyperreflexia, ataxia, decreased nerve conduction velocities, enlarged cerebral ventricles, basal ganglia calcifications, and immature sexual development. She died at age 33 years of cardiovascular disease.
Scott et al. (1993) described 2 brothers with XP/Cockayne syndrome complex who fell into the complementation group B category. Although UV-induced unscheduled DNA synthesis was only 5% of normal, no skin cancers had appeared in these 38- and 41-year-old brothers. They also had short stature, deafness, pigmentary retinopathy, and neurologic degeneration, but did not have the wizened or cachectic appearance characteristic of the patient reported by Robbins et al. (1974). Vermeulen et al. (1994) presented a table comparing the findings in these brothers with features combining those of XP and CS with patients in the XPD (278730) and XPG (278780) complementation groups.
Oh et al. (2006) reported 2 adult sisters with a relatively mild form of XPB without major manifestations of Cockayne syndrome. They each had XP features of sun sensitivity and freckle-like pigmentation, multiple basal cell carcinomas, and ocular malignant melanomas. The only neurologic manifestations were childhood-onset progressive sensorineural deafness in both and mild cerebellar ataxia in 1. Both sisters were of normal stature and gave birth to healthy children. Studies of patient-derived cells showed decreased DNA repair rates and decreased levels of XPB protein. Genetic analysis identified compound heterozygosity for 2 mutations in the ERCC3 gene (133510.0002; 133510.0004). Each parent was heterozygous for 1 of the mutations.
Molecular Genetics
In a patient with XPB/Cockayne syndrome reported by Robbins et al. (1974), Weeda et al. (1990) identified a heterozygous mutation in the ERCC3 gene (133510.0001). Oh et al. (2006) identified a second pathogenic ERCC3 mutation (133510.0005) in this patient.
In 2 brothers with XPB/Cockayne syndrome complex reported by Scott et al. (1993), Vermeulen et al. (1994) identified a heterozygous mutation in the ERCC3 gene (133510.0002). Oh et al. (2006) identified a second pathogenic ERCC3 mutation (133510.0008) in these brothers.
Genotype/Phenotype Correlations
Oh et al. (2006) observed a more severe XPB/Cockayne syndrome phenotype in patients with nonsense mutations in the ERCC3 gene on both alleles compared to those with a partially active missense mutation in the ERCC3 gene on at least 1 allele.
Pathogenesis
Hwang et al. (1996) performed detailed in vitro studies of the mutant XPB protein (133510.0001) identified by Weeda et al. (1990). As the XPB protein is a subunit of the generalized transcription factor IIH (GTF2H1; 189972), mutant GTF2H1 isolated from the patient showed decreased 3-prime to 5-prime XPB helicase activity and decreased DNA-dependent ATPase activities, resulting in a severe DNA nucleotide excision repair (NER) defect (5 to 10% of wildtype). There was also evidence for a decrease in basal transcription activity. The patient had combined clinical signs of XP and Cockayne syndrome, which Hwang et al. (1996) concluded were consistent with a combined defect in DNA repair and transcription. The typical XP features such as sun sensitivity, pigmentation abnormalities, and cancer predisposition were consistent with a defect in NER, whereas dwarfism, neuromyelination defects, deafness, and impaired sexual development may have resulted from decreased transcription.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Cachectic appearance HEAD & NECK Head \- Microcephaly Face \- Wizened face Ears \- Sensorineural deafness Eyes \- Pigmentary retinopathy \- Microphthalmia \- Cataracts \- Optic atrophy SKIN, NAILS, & HAIR Skin \- Photosensitivity \- Freckling \- Abnormal pigmentation \- Atrophic skin NEUROLOGIC Central Nervous System \- Mental retardation \- Ataxia \- Enlarged cerebral ventricles \- Cerebellar atrophy \- Abnormal myelination \- Basal ganglia calcifications Peripheral Nervous System \- Hyperreflexia \- Decreased nerve conduction velocity ENDOCRINE FEATURES \- Hypogonadism NEOPLASIA \- Melanoma \- Basal cell carcinoma \- Squamous cell carcinoma \- Increased risk of malignancy LABORATORY ABNORMALITIES \- Decreased DNA excision repair \- Increased cellular sensitivity to UV light MOLECULAR BASIS \- Caused by mutation in the excision-repair cross-complementing group 3 gene (ERCC3, 133510.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
|
c0043346
| 28,117 |
omim
|
https://www.omim.org/entry/610651
| 2019-09-22T16:04:14 |
{"doid": ["0110850"], "mesh": ["D014983"], "omim": ["610651"], "orphanet": ["220295", "910"], "synonyms": ["Alternative titles", "XP/CS complex", "XP, GROUP B"], "genereviews": ["NBK1397"]}
|
A number sign (#) is used with this entry because Leber congenital amaurosis-7 can be caused by heterozygous or homozygous mutation in the CRX gene (602225) on chromosome 19q13.
Description
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Clinical Features
Because the CRX gene is essential for photoreceptor maintenance and because expression of a dominant-negative CRX allele in developing retina prevented outer segment biogenesis (Furukawa et al., 1997), Freund et al. (1998) tested the hypothesis that CRX mutations are responsible for some cases of the Leber congenital amaurosis phenotype by examining the CRX gene of 74 Leber congenital amaurosis patients. Probands met the following diagnostic criteria: severe visual loss with nystagmus noted in the first few months of life, a markedly reduced or nondetectable ERG response, absence of other ocular causes for the visual disturbance, and no accompanying systemic diseases.
Swaroop et al. (1999) reported a patient with LCA7 who had reduction of visual acuity to the level of counting fingers and nearly global loss of visual fields with no ability to detect light presented to her other than directly ahead. The ocular fundus showed extensive pigmentary retinopathy and ERG responses had more than 98% amplitude loss of rod and cone components. The heterozygous parents retained normal visual acuity and were relatively asymptomatic clinically, except for being photoaversive to bright lights and preferring not to drive at or after dusk. Minor changes indicative of a mild form of cone-rod dystrophy were found on color vision tests, retinoscopy, and ERG in both the mother and the father.
Molecular Genetics
Using SSCP analysis and direct sequencing of PCR-amplified exons in the CRX gene in 74 LCA patients, Freund et al. (1998) identified putative disease-causing de novo deletion mutations in CRX in 2 patients with LCA7: a 2-bp deletion at the glu168 codon (E168del2bp; 602225.0003) and a 1-bp deletion at the gly217 codon (G217del1bp; 602225.0004). Both deletions caused frameshifts, and the predicted proteins lacked the conserved C-terminal tail. A second mutation was not found in either patient. None of the parents had the mutations, which were not found in 360 control alleles.
In a patient with Leber congenital amaurosis-7, Swaroop et al. (1999) identified a homozygous missense mutation in the CRX gene (R90W; 602225.0007).
Nakamura et al. (2002) reported a novel de novo deletion mutation in the CRX gene (602225.0008) in a Japanese patient with LCA7. The authors noted that this mutation was similar to the other 5 known de novo mutations in CRX because it was a heterozygous deletion of 1 or 2 basepairs in exon 3, causing a frameshift and producing a protein lacking the conserved OTX tail motif near the C terminus.
Animal Model
Menotti-Raymond et al. (2010) identified a putative mutation in the CRX gene (546delC) as the cause of autosomal dominant rod-cone dysplasia (Rdy) in a pedigree of cats segregating for the disorder. Disease expression in Rdy cats is comparable to that in young patients with Leber congenital amaurosis or retinitis pigmentosa.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
LEBER CONGENITAL AMAUROSIS 7
|
c0339527
| 28,118 |
omim
|
https://www.omim.org/entry/613829
| 2019-09-22T15:57:17 |
{"doid": ["0110333"], "mesh": ["D057130"], "omim": ["613829"], "orphanet": ["65"], "genereviews": ["NBK531510"]}
|
Neural tube defect in which the brain protrudes out of the skull
Encephalocele
Other namesCranium bifidum
Illustration of a child with encephalocele
SpecialtyMedical genetics
Encephalocele is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Classifications
* 4 Prevention
* 5 Treatment
* 5.1 Recovery
* 6 Epidemiology
* 7 Notable cases
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include neurologic problems, hydrocephalus (cerebrospinal fluid accumulated in the brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an abnormally small head), ataxia (uncoordinated muscle movement), developmental delay, vision problems, mental and growth retardation, and seizures.[citation needed]
* A neonate with a large encephalocele.
* Encephalocele on the head of a two-year-old.
* Baby with encephalocele.
* Encephalocele.
* Neonate with encephalocele
## Causes[edit]
Since its earliest cited case in the 16th century, many generations of scientists have attempted to explain the cause.[2] Little has been revealed in the centuries to follow. Although the exact cause is unknown, encephaloceles are caused by failure of the neural tube to close completely during fetal development. Both environmental and genetic factors have been seen to contribute to the cause of encephaloceles.[3] Some studies have revealed a higher occurrence in female embryos, suggesting a genetic cause.[4] Research has indicated that teratogens (substances known to cause birth defects), trypan blue (a stain used to color dead tissues or cells blue), and arsenic may damage the developing fetus and cause encephaloceles.[citation needed]
Proper levels of folic acid have been shown to help prevent such defects when taken before pregnancy, and early in pregnancy.[citation needed]
## Diagnosis[edit]
Usually encephaloceles are noticeable deformities and are diagnosed immediately after birth, but a small encephalocele in the nasal or forehead region can go undetected. Various physical and mental developmental delays can indicate the presence of encephaloceles.[citation needed]
### Classifications[edit]
Encephaloceles of the face are generally classified as nasofrontal, nasoethmoidal, or naso-orbital, however, there can be some overlap in the type of encephalocele. They can also appear along any part of the cranial vault, as they result from abnormal closure of cranial bones; the most common location for encephaloceles is the occipital region. If the bulging portion contains only cerebrospinal fluid and the overlying membrane, it may be called a meningocele. If brain tissue is present, it may be referred to as a meningoencephalocele.[5] When the head size or occipitofrontal circumference is smaller than the herniating sac, then it is termed as giant encephalocele. [6]
Separation of the neural and surface ectoderm causes apoptosis in the midline. A disturbance in this separation process at the final closure due to the lack of apoptosis is considered to be a critical aspect of nasofrontal and nasoethmoidal encephalocele.[7]
## Prevention[edit]
It is recommended that women take a multivitamin with 400 micrograms of folic acid daily to reduce the likelihood of any type of neural tube defects before and during the first 28 days after conception.[8]
## Treatment[edit]
* A series of steps involved in reconstructive surgery of a frontal encephalocele. The same child is in all the images.
* 1\.
* 2\.
* 3\.
* 4\.
* 5\.
* 6\.
Currently, the only effective treatment for encephaloceles is reparative surgery, generally performed during infancy. The extent to which it can be corrected depends on the location and size of the encephaloceles; however, large protrusions can be removed without causing major disability. Surgery repositions the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development. Occasionally, shunts are placed to drain excess cerebrospinal fluid from the brain.[citation needed]
The goals of treatment include:
* closure of open skin defects to prevent infection and desiccation of brain tissue
* removal of nonfunctional extracranial cerebral tissue with water-tight closure of the dura
* total craniofacial reconstruction with particular emphasis on avoiding the long-nose deformity (nasal elongation that results from depression of the cribiform plate and nasal placode). Without proper management, the long-nose deformity can be more obvious after repair.[9]
### Recovery[edit]
Recovery is difficult to predict prior to surgery, and depends on the type of brain tissue involved and location of the encephaloceles. If surgery is successful, and developmental delays have not occurred, a patient can develop normally. Where neurologic and developmental damage has occurred, the specialists will focus on minimizing both mental and physical disabilities.[citation needed]
In general, when the bulging material consists of primarily cerebrospinal fluid, a complete recovery can occur. When a large amount of brain tissue is present in the encephaloceles, there is a higher chance of perioperative complication.[citation needed]
## Epidemiology[edit]
Encephaloceles occur rarely, at a rate of one per 5,000 live births worldwide. Encephaloceles of the back of the head are more common in Europe and North America, while encephaloceles on the front of the head more frequently occur in Southeast Asia, Africa, Malaysia, and Russia. Ethnic, genetic, and environmental factors, as well as parental age, can all affect the likelihood of encephaloceles. The condition can occur in families with a family history of spina bifida.[10]
## Notable cases[edit]
* The Facemakers: Operation Smile is a documentary co-produced by the Discovery Channel and BBC 1 in conjunction with century films aired on 21 June 2000.[11] The Facemakers documents the remarkable changes that occurred in the lives of three children as a result of Operation Smile's visit to Davao City in the Philippines in 1999. One child in particular, Abel Gastardo, had a condition too severe to be treated during the time of the mission. Abel suffered from a rare nasofrontal facial encephalocele, an extreme protrusion of brain tissue from the front of his skull. The documentary follows Abel to the United States seven months later to receive corrective surgery. He was brought over by Operation Smile to receive the major surgery in Virginia, at the Children's Hospital of the King's Daughters. The other facial defects within the fifty-minute programme consisted of children with facial cleft and cleft lip and palate which may be associated with encephalocele.[12]
* In November 2006, there was an hour-long documentary on the British television network Channel 4 about Facing the World, an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Ney, a Cambodian boy who suffered from a severe form of encephalocele, wherein part of his brain protruded through his face.[citation needed]
* On December 4, 2012, Dr. Meara again led a cranio-facial surgical team to remove the encephalocele of an infant, Dominic Gundrum, the son of a Wisconsin Court of Appeals judge and his wife. The surgery also closed the baby's skull, repaired a Tessier facial cleft, and brought the baby's facial features together.[13]
## See also[edit]
* Cephalic disorder
* Knobloch syndrome
## References[edit]
1. ^ NINDS Encephaloceles Information Page Archived 2009-01-13 at the Wayback Machine, NINDS, February 12, 2007. Retrieved 2007-09-26.
2. ^ Abdel-Aziz, Mosaad; El-Bosraty, Hussam (2010). ""Nasal encephalocele: Endoscopic excision with anesthetic consideration"". "International Journal of Pediatric Otorhinolaryngology". 74 (8): 869–873. doi:10.1016/j.ijporl.2010.04.015. Retrieved 2020-11-19.
3. ^ Cinalli, Giuseppe (2005). Pediatric Hydrocephalus. Berlin: Springer. ISBN 9788847002258.
4. ^ Dadmehr, Majid; Farideh, Nejat (2009). ""Risk factors associated with occipital encephalocele: a case-control study"". "Journal of Neurosurgery: Pediatrics". 3 (6): 534–537. doi:10.3171/2009.2.PEDS08436. Retrieved 2020-11-19.
5. ^ If both brain tissue and ventricular cerebrospinal fluid are present, it may be called a meningohydroencephalocele.Encephalocele Imaging at eMedicine
6. ^ 9
7. ^ Arends, Mark; Wyllie, Andrew (1991). ""Apoptosis: Mechanisms and Roles in Pathology"". International Review of Experimental Pathology. 32: 223–254. doi:10.1007/BF03404123. PMC 6979728. Retrieved 2020-11-19. Sulik, K; Cook, C (1988). ""Teratogens and craniofacial malformations: relationships to cell death"". Development. 103: 213–31. Retrieved 2020-11-19. Vermeij-Keers, C; Mazzola, R (1983). "Cerebro-craniofacial and craniofacial malformations: an embryological analysis". The Cleft palate journal. 20 (2): 128–45. Retrieved 2020-11-19.
8. ^ De Wals, Philippe; Trotche, Cecile (1999). ""Prevalence of Neural Tube Defects in the Province of Quebec, 1992"". "Canadian Journal of Public Health volume". 90 (4): 237–239. doi:10.1007/BF03404123. PMC 6979728. Retrieved 2020-11-19.
9. ^ Holmes, Anthony D.; Meara, John G.; Kolker, Adam R.; Rosenfeld, Jeffrey V.; Klug, Geoffrey L. (2001). "Frontoethmoidal Encephaloceles: Reconstruction and Refinements". The Journal of Craniofacial Surgery. 12 (1): 6–18. doi:10.1097/00001665-200101000-00003. PMID 11314190.
10. ^ "Conditions + Treatments | Boston Children's Hospital". Childrenshospital.org. Archived from the original on 2013-09-08. Retrieved 2015-06-26.
11. ^ "Century Films". Centuryfilmsltd.com. 2000-06-21. Archived from the original on 2015-09-25. Retrieved 2015-06-26.
12. ^ "The Facemakers with Operation Smile". YouTube.com. 2010-07-29. Retrieved 2015-06-26.
13. ^ English, Bella (January 29, 2013). "Family's agonizing trail leads to infant's surgery". The Boston Globe. Retrieved March 7, 2013.
9\. Chaturvedi J, Goyal N, Arora RK, Govil N. Giant occipitocervical encephalocele. J Neurosci Rural Pract 2018;9:414-6
## External links[edit]
Classification
D
* ICD-10: Q01
* MeSH: D004677
* DiseasesDB: 29394
External resources
* eMedicine: radio/246
* encephaloceles at NINDS
* v
* t
* e
Congenital malformations and deformations of nervous system
Brain
Neural tube defect
* Anencephaly
* Acephaly
* Acrania
* Acalvaria
* Iniencephaly
* Encephalocele
* Chiari malformation
Other
* Microcephaly
* Congenital hydrocephalus
* Dandy–Walker syndrome
* other reduction deformities
* Holoprosencephaly
* Lissencephaly
* Microlissencephaly
* Pachygyria
* Hydranencephaly
* Septo-optic dysplasia
* Megalencephaly
* Hemimegalencephaly
* CNS cyst
* Porencephaly
* Schizencephaly
* Polymicrogyria
* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
* Rachischisis
Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Encephalocele
|
c0014065
| 28,119 |
wikipedia
|
https://en.wikipedia.org/wiki/Encephalocele
| 2021-01-18T18:30:37 |
{"gard": ["6333"], "mesh": ["D004677"], "umls": ["C0014067", "C0014065"], "icd-10": ["Q01"], "orphanet": ["199647"], "wikidata": ["Q1346023"]}
|
A number sign (#) is used with this entry because Perry syndrome is caused by heterozygous mutation in the DCTN1 gene (601143) on chromosome 2p13.
Description
Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (Perry et al., 1975). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., 600274) and progressive supranuclear palsy (PSP; 601104). There is intrafamilial variation in the manifestations of the disorder (summary by Caroppo et al., 2014; review by Wider et al., 2010).
Mutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; 607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see 105400).
Clinical Features
Perry et al. (1975) described an unusual neuropsychiatric disorder inherited in an autosomal dominant fashion through 3 generations of a family. Symptoms began late in the fifth decade in 6 affected persons and death occurred after 4 to 6 years. The earliest and most prominent symptom was mental depression not responsive to antidepressant drugs or electroconvulsive therapy. Sleep disturbances, exhaustion and marked weight loss were features. Parkinsonism developed later, and respiratory failure occurred terminally. Perry et al. (1975) found greatly diminished taurine in plasma and cerebrospinal fluid, and at autopsy all regions of the brain showed markedly reduced taurine content. Taurine is a putative inhibitory synaptic transmitter.
Perry et al. (1990) described 2 additional affected persons in this kindred. Neuropathologic studies showed showed severe neuronal loss and reactive gliosis in the substantia nigra. Neurochemical studies showed a marked depletion of dopamine in the substantia nigra, putamen, and caudate nucleus, as well as reduction in serotonin content in the substantia nigra. In both patients, glutamate contents were low in frontal cortex and thalamus, and GABA contents were low in thalamus and substantia nigra. In addition, phosphoethanolamine contents were reduced in all brain regions of both patients, especially in the substantia nigra. One patient with severe symptoms had low levels of homovanillic acid, 5-hydroxyindoleacetic acid, and GABA in his CSF repeatedly for 3 years before death at age 58. The second patient died at the age of 51 of an unrelated cause before developing symptoms of the familial disorder.
Between the times of the 2 reports by Perry et al. (1975, 1990), 2 additional unrelated families affected with the same disorder were reported (Purdy et al., 1979; Roy et al., 1988). Brain content of taurine was normal in the patients reported by Purdy et al. (1979). Both Purdy et al. (1979) and Roy et al. (1988) emphasized alveolar hypoventilation as a feature. Apathy and progressive weight loss were also emphasized as early symptoms. Sudden death, presumably from failure of central respiratory control, was a characteristic feature. Roy et al. (1988) described a patient who after multiple episodes of respiratory arrest was 'successfully managed with aggressive pulmonary care, tracheostomy, and intermittent home mechanical ventilation, which, combined with carbidopa/levodopa, allowed for a functional lifestyle with improvement in apathy, mobility, and nutritional status.'
Lechevalier et al. (1992) described 5 cases in 1 family. Death caused by central respiratory disorders occurred after 6 to 8 years of progressive course. Autopsies in 2 cases were reported.
Tsuboi et al. (2002) reported a Japanese family in which 5 affected members presented in the third and fourth decades with parkinsonism and depression. Three affected members were studied in detail. Weight loss and central hypoventilation developed in the later stages, leading to death in at least 1 member. The disorder showed autosomal dominant inheritance. Tsuboi et al. (2002) noted that hypoventilation is the most critical feature of the disorder and suggested that altered neurotransmitter levels may be causative.
Wider et al. (2010) reported 2 unrelated families of Japanese origin with Perry syndrome. Two affected individuals in 1 family presented at age 47 years with parkinsonism and respiratory symptoms; neither had depression or weight loss. In the second family, 2 sibs presented with resting tremor and weight loss, respectively. Both developed levodopa-responsive parkinsonism, weight loss, and hypoventilation. Neither developed depression or apathy.
Newsway et al. (2010) reported a man with Perry syndrome who developed progressive symptoms in his mid-forties. In addition to parkinsonism, psychiatric disturbances, and weight loss, he also showed signs of frontotemporal dementia as well as slowing of vertical downgaze and midbrain atrophy, reminiscent of progressive supranuclear palsy. Genetic analysis identified a heterozygous mutation in the DCTN1 gene (G71R; 601143.0006). The findings expanded the phenotype associated with DCTN1 mutations.
Caroppo et al. (2014) reported a large 3-generation French family in which 4 individuals had variable manifestations of an adult-onset neurodegenerative disorder associated with a heterozygous missense mutation in the DCTN1 gene (G71E; 601143.0008). The age at symptom onset ranged from 39 to 59 years, and the age of death from 43 to 64 years. The duration of disease was 4 to 5 years in all patients except 1 who survived for 14 years after onset. One patient presented with parkinsonism, 1 with gait imbalance, and 2 with depression or apathy. All eventually developed parkinsonism and frontal signs, leading to a diagnosis of behavioral variant of frontotemporal dementia in 2 patients. One patient developed oculomotor abnormalities consistent with progressive supranuclear palsy, and another had respiratory arrest, consistent with Perry syndrome. The features of 4 affected individuals from the previous generation were also reported. All had parkinsonism, and 1 also had psychiatric symptoms and respiratory failure, leading to a diagnosis of Perry syndrome. Another had oculomotor abnormalities, consistent with PSP. Overall, the clinical diagnoses were Parkinson disease in 4 patients, Perry syndrome in 1, progressive supranuclear palsy in 2, and frontotemporal dementia in 2. None of the patients had symptoms of amyotrophic lateral sclerosis.
### Neuropathologic Features
By neuropathologic examination of 8 affected individuals, Wider et al. (2010) demonstrated that Perry syndrome is a TDP43 (605078)-related proteinopathy. There was severe neuronal loss in the substantia nigra and locus ceruleus without Lewy bodies. Surviving neurons contained intranuclear and cytoplasmic TDP43-positive inclusions as well as dystrophic neurites, axonal spheroids, and glial cytoplasmic inclusions. Immunohistochemistry for MAPT (157140) and SNCA (163890) was negative. Most of the pathology in Perry syndrome showed pallidonigral predominance, which could explain the parkinsonism, with sparing of the cortex, hippocampus, and motor neurons, consistent with the lack of dementia and motor neuron disease in most patients. Putative loss of neurons in the brainstem may account for central hypoventilation.
Molecular Genetics
In affected members of 8 families with Perry syndrome, Farrer et al. (2009) identified 5 different heterozygous mutations in the DCTN1 gene (see, e.g., 601143.0006-601143.0007). In vitro functional expression studies indicated that the mutations resulted in decreased microtubule binding and intracytoplasmic inclusions.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Weight loss HEAD & NECK Eyes \- Vertical gaze palsy \- Slowing of vertical saccades RESPIRATORY \- Hypoventilation, central \- Respiratory insufficiency NEUROLOGIC Central Nervous System \- Parkinsonism \- Insomnia \- Frontotemporal dementia, behavioral variant \- Neuronal loss in the substantia nigra \- Frontal lobe atrophy \- Midbrain atrophy \- TDP43-positive neuronal inclusions \- Dystrophic neurites \- Axonal spheroids \- Glial inclusions Behavioral Psychiatric Manifestations \- Depression \- Apathy \- Social withdrawal \- Dysexecutive behavior \- Inappropriate behavior MISCELLANEOUS \- Onset in fourth to fifth decade \- Rapid progression \- Variable response to levodopa treatment \- Central hypoventilation occurs late in the disease and is often fatal \- Variable presentation and manifestations MOLECULAR BASIS \- Caused by mutation in the dynactin 1 gene (DCTN1, 601143.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PERRY SYNDROME
|
c1868594
| 28,120 |
omim
|
https://www.omim.org/entry/168605
| 2019-09-22T16:36:33 |
{"doid": ["0060486"], "mesh": ["C566822"], "omim": ["168605"], "orphanet": ["178509"], "synonyms": ["Alternative titles", "PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION"], "genereviews": ["NBK47027"]}
|
Myofibrilar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk). Some affected individuals also experience muscle stiffness, aching, or cramps. Other symptoms that can be associated with MFM include pain and tingling in the limbs (peripheral neuropathy) or an enlarged and weakened heart (cardiomyopathy). Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the disease can appear anytime between infancy and late adulthood.
MFM is caused by a mutation (change) in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, BAG3, FHL1, TTN, and DNAJB6. The signs and symptoms of MFM can vary depending on the genetic cause. For some people, the exact genetic cause may be unknown. The mode of inheritance of the disease depends on exactly which gene is changed. MFM can be diagnosed with a muscle biopsy or other studies of muscle function. The diagnosis can be confirmed with genetic testing. Treatment may include physical therapy and assistive devices such as a cane or wheelchair for those with advanced muscle weakness. Affected individuals who have cardiomyopathy or an abnormal heart rhythm (arrhythmia) may require a pacemaker or implantable cardioverter defibrillator (ICD).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Myofibrillar myopathy
|
c2678065
| 28,121 |
gard
|
https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy
| 2021-01-18T17:58:50 |
{"mesh": ["C580316"], "omim": ["601419"], "umls": ["C2678065"], "orphanet": ["593"], "synonyms": ["Desminopathy (type)", "Alpha Beta crystallinopathy (type)", "Myotilinopathy (type)", "Zaspopathy (type)", "Filaminopathy (type)", "Desmin storage myopathy (former name)", "Desmin related myopathy (former name)", "Protein surplus myopathy (former name)"]}
|
An enthesophyte, consisting of calcification deposits within the Achilles tendon at its calcaneal insertion. The Achilles tendon is wider than normal, further suggesting inflammation.
Enthesophytes are abnormal bony projections at the attachment of a tendon or ligament.[1] They are not to be confused with osteophytes, which are abnormal bony projections in joint spaces. Enthesophytes and osteophytes are bone responses for stress.[1]
## References[edit]
1. ^ a b Rogers, J.; Shepstone, L.; Dieppe, P. (1997). "Bone formers: osteophyte and enthesophyte formation are positively associated". Extended Reports. Annals of the Rheumatic Diseases. 56 (2): 85–90. doi:10.1136/ard.56.2.85. PMC 1752321. PMID 9068279.
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Enthesophyte
|
c3696979
| 28,122 |
wikipedia
|
https://en.wikipedia.org/wiki/Enthesophyte
| 2021-01-18T18:48:33 |
{"umls": ["C3696979"], "wikidata": ["Q5380519"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see 125480.
Mapping
Jamra et al. (2007) performed a genomewide interaction and locus heterogeneity linkage scan in bipolar affective disorder (BPAD), using a large linkage dataset (52 families of European descent; 448 participants and 259 affected individuals). The results provided the strongest evidence of interaction between BPAD genes on chromosome 2q22-q24 (MAFD5) and 6q23-q24 (MAFD6; 611536), which was observed symmetrically in both directions; nonparametric lod (NPL) scores of 7.55 on 2q and 7.63 on 6q; P less than 0.0001 and P = 0.0001, respectively, after a genomewide permutation procedure. The second-best BPAD interaction evidence was observed between 2q22-q24 and 15q26. Here, Jamra et al. (2007) also observed a symmetric interaction. Whereas chromosome 6q23-q24 showed evidence within the 1-dimensional linkage scan, the chromosome 2q22-q24 locus was detectable only in the 2-dimensional linkage scan. With use of a 1-lod interval, the underlying BPAD gene on 2q22-q24 is located between 150 and 166 cM corresponding to approximately 137 and 157 Mb, respectively, according to NCBI36. Jamra et al. (2007) concluded that the MAFD5 locus harbors a gene that interacts epistatically with a second risk locus on chromosome 6q23-q24.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MAJOR AFFECTIVE DISORDER 5
|
c0005586
| 28,123 |
omim
|
https://www.omim.org/entry/611535
| 2019-09-22T16:03:09 |
{"mesh": ["D001714"], "omim": ["611535"], "icd-9": ["296.80"], "icd-10": ["F31", "F31.9"], "synonyms": ["Alternative titles", "BIPOLAR AFFECTIVE DISORDER"]}
|
Any of several events in which widespread fear of communism or leftism develops
Not to be confused with Red Terror.
For other uses, see Red Scare (disambiguation).
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Part of a series on
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A Red Scare is the promotion of a widespread fear of a potential rise of communism or anarchism by a society or state. The term is most often used to refer to two periods in the history of the United States which are referred to by this name. The First Red Scare, which occurred immediately after World War I, revolved around a perceived threat from the American labor movement, anarchist revolution, and political radicalism. The Second Red Scare, which occurred immediately after World War II, was preoccupied with the perception that national or foreign communists were infiltrating or subverting U.S. society and the federal government. The name refers to the red flags typically used by communists.
## Contents
* 1 First Red Scare (1917–1920)
* 2 Second Red Scare (1947–57)
* 2.1 Internal causes of the anti-communist fear
* 2.2 History
* 2.2.1 Early years
* 2.2.2 Increasing tension
* 2.2.3 Wind down
* 3 See also
* 4 Footnotes
* 5 References and further reading
* 6 External links
## First Red Scare (1917–1920)[edit]
Main article: First Red Scare
Political cartoon from 1919 depicting the October Revolution’s impact on the Paris peace talks
The first Red Scare began following the Bolshevik Russian Revolution of 1917 and the subsequent wave of Communist revolutions throughout Europe and beyond. Domestically, these were the intensely patriotic years of World War I, with anarchist and other left-wing social agitation aggravating national, social, and political tensions. Political scientist and former member of the Communist Party Murray B. Levin wrote that the Red Scare was "a nationwide anti-radical hysteria provoked by a mounting fear and anxiety that a Bolshevik revolution in America was imminent—a revolution that would change Church, home, marriage, civility, and the American way of Life".[1] Newspapers exacerbated those political fears into anti-foreign sentiment because varieties of radical anarchism were becoming popular as possible solutions to poverty, often by recent European immigrants (cf. hyphenated-Americans). The Industrial Workers of the World (IWW), also known as the Wobblies, backed several labor strikes in 1916 and 1917. These wartime strikes covered a wide range of industries including steel working, shipbuilding, coal mining, copper mining, as well as other industries necessary to make wartime necessities. After World War I ended, the number of strikes increased to record levels in 1919 with more than 3,600 separate strikes that spanned from steel workers, to railroad shop workers, to the Boston police department.[2] The press portrayed them as "radical threats to American society" inspired by "left-wing, foreign agents provocateurs". Those on the side of the IWW claim that the press "misrepresented legitimate labor strikes" as "crimes against society", "conspiracies against the government", and "plots to establish communism".[3] Opponents, on the other hand, saw these as an extension of the radical, anarchist foundations of the IWW, which contends that all workers should be united as a social class and that capitalism and the wage system should be abolished.[4]
In 1917 as a response to World War 1, Congress passed the espionage act of 1917 to prevent any information relating to national defense to be used to harm the United States or aid her enemies. The Wilson administration used this act to make anything "urging treason" a "nonmailable matter" . Due to the espionage act and the then Postmaster General Albert S. Burleson, 74 separate newspapers were not being mailed.[5]
A "European Anarchist" attempts to destroy the Statue of Liberty in this 1919 political cartoon.
A bomb blast badly damaged the residence of Attorney General Mitchell Palmer in the spring of 1919.
In April 1919, authorities discovered a plot for mailing 36 bombs to prominent members of the U.S. political and economic establishment: J. P. Morgan Jr., John D. Rockefeller, Supreme Court Justice Oliver Wendell Holmes, U.S. Attorney General Alexander Mitchell Palmer, and immigration officials. On June 2, 1919, in eight cities, eight bombs simultaneously exploded. One target was the Washington, D.C., house of U.S. Attorney General Palmer, where the explosion killed the bomber, who evidence indicated was an Italian-American radical from Philadelphia, Pennsylvania. Afterwards, Palmer ordered the U.S. Justice Department to launch the Palmer Raids (1919–21).[6] He deported 249 Russian immigrants on the "Soviet Ark", helped create the Federal Bureau of Investigation (FBI), and used federal agents to jail more than 5,000 citizens and search homes without respecting their constitutional rights.[7]
Yet, in 1918, before the bombings, President Woodrow Wilson had pressured the Congress to legislate the anti-anarchist Sedition Act of 1918 to protect wartime morale by deporting putatively undesirable political people. Law professor David D. Cole reports that President Wilson's "federal government consistently targeted alien radicals, deporting them ... for their speech or associations, making little effort to distinguish terrorists from ideological dissidents."[6] President Wilson used the Sedition Act of 1918 in order to limit the exercise of free speech by criminalizing language deemed disloyal to the United States government.[8]
Initially, the press praised the raids; The Washington Post said, "There is no time to waste on hairsplitting over [the] infringement of liberty", and The New York Times said the injuries inflicted upon the arrested were "souvenirs of the new attitude of aggressiveness which had been assumed by the Federal agents against Reds and suspected-Reds".[9] In the event, the Palmer Raids were criticized as unconstitutional by twelve publicly prominent lawyers, including (future Supreme Court Justice) Felix Frankfurter, who published A Report on the Illegal Practices of The United States Department of Justice, documenting systematic violations of the Fourth, Fifth, Sixth, and Eighth Amendments to the U.S. Constitution via Palmer-authorized "illegal acts" and "wanton violence". Defensively, Palmer then warned that a government-deposing left-wing revolution would begin on 1 May 1920—May Day, the International Workers' Day. When it failed to happen, he was ridiculed and lost much credibility. Strengthening the legal criticism of Palmer was that fewer than 600 deportations were substantiated with evidence, out of the thousands of resident aliens arrested and deported. In July 1920, Palmer's once-promising Democratic Party bid for the U.S. presidency failed.[10] Wall Street was bombed on September 2, 1920, near Federal Hall National Memorial and the JP Morgan Bank. Although both anarchists and communists were suspected as being responsible for the bombing, ultimately no individuals were indicted for the bombing in which 38 died and 141 were injured.[11]
In 1919–20, several states enacted "criminal syndicalism" laws outlawing advocacy of violence in effecting and securing social change. The restrictions included free speech limitations.[12] Passage of these laws, in turn, provoked aggressive police investigation of the accused persons, their jailing, and deportation for being suspected of being either communist or left-wing. Regardless of ideological gradation, the Red Scare did not distinguish between communism, anarchism, socialism, or social democracy.[13] This aggressive crackdown on certain ideologies resulted in many supreme court cases over the debate to free speech. In the case of Schenk v. United States, using the clear and present danger test the espionage act of 1917 and the sedition act of 1918 were deemed constitutional.[8]
## Second Red Scare (1947–57)[edit]
Main article: McCarthyism
Senator Joseph McCarthy, namesake of McCarthyism
The second Red Scare occurred after World War II (1939–45), and it was popularly known as "McCarthyism" after its most famous supporter, Senator Joseph McCarthy. McCarthyism coincided with an increased and popular fear of communist espionage that was consequent of the increasing tension in the Cold War through the Soviet occupation of Eastern Europe, the Berlin Blockade (1948–49), the end of the Chinese Civil War, the confessions of spying for the Soviet Union that were made by several high-ranking U.S. government officials, and the outbreak of the Korean War.
### Internal causes of the anti-communist fear[edit]
The events of the late 1940s, the early 1950s — the trial of Ethel and Julius Rosenberg (1953), the trial of Alger Hiss, the Iron Curtain (1945–1992) around Eastern Europe, and the Soviet Union's first nuclear weapon test in 1949 (RDS-1) — surprised the American public, influencing popular opinion about U.S. National Security, which, in turn, was connected to the fear that the Soviet Union would hydrogen-bomb the United States, and fear of the Communist Party of the United States of America (CPUSA).
In Canada, the 1946 Kellock–Taschereau Commission investigated espionage after top secret documents concerning RDX, radar and other weapons were handed over to the Soviets by a domestic spy-ring.[14]
At the House Un-American Activities Committee, former CPUSA members and NKVD spies, Elizabeth Bentley and Whittaker Chambers, testified that Soviet spies and communist sympathizers had penetrated the U.S. government before, during and after World War II. Other U.S. citizen spies confessed to their acts of espionage in situations where the statute of limitations on prosecuting them had run out. In 1949, anti–communist fear, and fear of American traitors, was aggravated by the Chinese Communists winning the Chinese Civil War against the Western-sponsored Kuomintang, their founding of the People's Republic of China, and later Chinese intervention in the Korean War (1950–53) against U.S. ally South Korea.
A few of the events during the Red Scare were also due to a power struggle between director of FBI J. Edgar Hoover and the Central Intelligence Agency. Hoover had instigated and aided some of the investigations of members of the CIA with "leftist" history, like Cord Meyer.[15] This conflict could also be traced back to the conflict between Hoover and William J. Donovan, going back to the first Red Scare, but especially during World War II. Donovan ran the OSS (CIA's predecessor). They had differing opinions on the nature of the alliance with the Soviet Union, conflicts over jurisdiction, conflicts of personality, the OSS hiring of communists and criminals as agents, etc.[16]
### History[edit]
See also: Smith Act trials of communist party leaders
#### Early years[edit]
By the 1930s, communism had become an attractive economic ideology, particularly among labor leaders and intellectuals. By 1939, the CPUSA had about 50,000 members.[17] In 1940, soon after World War II began in Europe, the U.S. Congress legislated the Alien Registration Act (aka the Smith Act, 18 USC § 2385) making it a crime to "knowingly or willfully advocate, abet, advise or teach the duty, necessity, desirability or propriety of overthrowing the Government of the United States or of any State by force or violence, or for anyone to organize any association which teaches, advises or encourages such an overthrow, or for anyone to become a member of or to affiliate with any such association"—and required Federal registration of all foreign nationals. Although principally deployed against communists, the Smith Act was also used against right-wing political threats such as the German-American Bund, and the perceived racial disloyalty of the Japanese-American population, (cf. hyphenated-Americans).
After the non-aggression pact was signed between Hitler and Stalin in 1939 the communist party in the United States took an anti-war approach and were consequently treated with more hostility than they had been previously by the public because they were seen as to be working with the Nazis, however in 1941, after Nazi Germany invaded the Soviet Union, the CPUSA's official position became pro-war, opposing labor strikes in the weapons industry and supporting the U.S. war effort against the Axis Powers. With the slogan "Communism is Twentieth-Century Americanism", the chairman, Earl Browder, advertised the CPUSA's integration to the political mainstream.[18] In contrast, the Trotskyist Socialist Workers Party opposed U.S. participation in the war and supported labor strikes, even in the war-effort industry. For this reason, James P. Cannon and other SWP leaders were convicted per the Smith Act.
#### Increasing tension[edit]
In March 1947, President Harry S. Truman signed Executive Order 9835, creating the "Federal Employees Loyalty Program" establishing political-loyalty review boards who determined the "Americanism" of Federal Government employees, and requiring that all federal employees to take an oath of loyalty to the United States government. It then recommended termination of those who had confessed to spying for the Soviet Union, as well as some suspected of being "Un-American". This led to more than 2,700 dismissals and 12,000 resignations from the years 1947 to 1956.[19] It also was the template for several state legislatures' loyalty acts, such as California's Levering Act. The House Committee on Un-American Activities was created during the Truman administration as a response to allegations by republicans of disloyalty in Truman's administration.[19] The House Committee on Un-American Activities (HUAC) and the committees of Senator Joseph McCarthy (R., Wisc.) conducted character investigations of "American communists" (actual and alleged), and their roles in (real and imaginary) espionage, propaganda, and subversion favoring the Soviet Union—in the process revealing the extraordinary breadth of the Soviet spy network in infiltrating the federal government; the process also launched the successful political careers of Richard Nixon and Robert F. Kennedy,[20] as well as that of Joseph McCarthy. The HUAC held a large interest in investigating those in the entertainment industry in Hollywood. They interrogated actors, writers, and producers. The people who cooperated in the investigations got to continue working as they had been, but people who refused to cooperate were blacklisted.
Senator Joseph McCarthy stirred up further fear in the United States of communists infiltrating the country by saying that communist spies were omnipresent, and he was America's only salvation, using this fear to increase his own influence. In 1950 Joseph McCarthy addressed the senate, citing 81 separate cases, and made accusations against suspected communists. Although he provided little or no evidence, this prompted the Senate to call for a full investigation.[21]
Senator McCarran introduced the McCarran Internal Security Act of 1950 that was passed by the U.S. Congress and which modified a great deal of law to restrict civil liberties in the name of security. President Truman declared the act a "mockery of the Bill of Rights" and a "long step toward totalitarianism" because it represented a government restriction on the freedom of opinion. He vetoed the act but his veto was overridden by Congress.[22] Much of the bill eventually was repealed.
The formal establishment of the People’s Republic of China in 1949 and the beginning of the Korean War in 1950 meant that Asian Americans, especially those of Chinese or Korean descent, came under increasing suspicion by both American civilians and government officials of being Communist sympathizers. Simultaneously, some American politicians saw the prospect of American-educated Chinese students bringing their knowledge back to “Red China” as an unacceptable threat to American national security, and laws such as the China Aid Act of 1950 and the Refugee Relief Act of 1953 gave significant assistance to Chinese students who wished to settle in the United States. Despite being naturalized, however, Chinese immigrants continued to face suspicion of their allegiance. The general effect, according to University of Wisconsin-Madison scholar Qing Liu, was to simultaneously demand that Chinese (and other Asian) students politically support the American government yet avoid engaging directly in politics.[23]
The Second Red Scare profoundly altered the temper of American society. Its later characterizations may be seen as contributory to works of feared communist espionage, such as the film My Son John (1952), about parent's suspicions their son is a spy. Abundant accounts in narrative forms contained themes of the infiltration, subversion, invasion, and destruction of American society by un–American thought. Even a baseball team, the Cincinnati Reds, temporarily renamed themselves the "Cincinnati Redlegs" to avoid the money-losing and career-ruining connotations inherent in being ball-playing "Reds" (communists).
In 1954 Congress passed the Communist Control Act of 1954 which prevented members of the communist party in America from holding office in labor unions and other labor organizations.
#### Wind down[edit]
In 1954, after accusing the army, including war heroes, Senator Joseph McCarthy lost credibility in the eyes of the American public. He was formally censured by his colleagues in Congress and the hearings led by McCarthy came to a close.[21] After the Senate formally censured McCarthy, he lost a lot of his standing and political power, and some of the tension and excitement from a possible communist takeover died down.
From 1955 through 1959, the Supreme Court made several decisions which restricted the ways in which the government could enforce its anti-communist policies, some of which included limiting the federal loyalty program to only those who had access to sensitive information, allowing defendants to face their accusers, reducing the strength of congressional investigation committees, and weakening the Smith Act.[19]
In the 1957 case Yates v. United States and the 1961 case Scales v. United States, the Supreme Court limited Congress's ability to circumvent the First Amendment, and in 1967 during the Supreme Court case United States v. Robel, the Supreme Court ruled that a ban on communists in the defense industry was unconstitutional.[24]
In 1995, the American government revealed details of the Venona Project, which when combined with the opening of the USSR ComIntern archives, provided substantial validation of intelligence gathering, outright spying, and policy influencing, by Americans on behalf of the Soviet Union, from 1940 through 1980.[25][26] Over 300 American communists, whether they knew it or not, including government officials and technicians that helped in developing the atom bomb, were found to have engaged in espionage.[19]
## See also[edit]
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* American social policy during the Second Red Scare
* Church Committee
* Cold War
* Espionage Act of 1917
* Eugene Debs and Debs v. United States
* Fear mongering
* Foley Square trial
* History of Soviet espionage in the United States
* Hollywood blacklist
* Jencks Act
* Jencks v. United States
* Kellock–Taschereau Commission
* Lavender scare
* Moral panic
* Pentagon military analyst program
* Propaganda in the United States
* Psychological operations (United States)
* The Reagan Doctrine
* Red-tagging in the Philippines
* Rooi gevaar ("red danger" in Afrikaans)
* Subversive Activities Control Board
* The Crucible
* The Red Decade
* US intervention in Latin America
* Yellow Peril
* Witch-hunt
## Footnotes[edit]
1. ^ Levin, Murray B. (1971). Political Hysteria in America: The Democratic Capacity for Repression. Basic Books. p. 29. ISBN 0-465-05898-1. OCLC 257349.
2. ^ "Labour Movements, Trade Unions and Strikes (USA) | International Encyclopedia of the First World War (WW1)". encyclopedia.1914-1918-online.net. Retrieved 2019-11-01.
3. ^ Political Hysteria in America: The Democratic Capacity for Repression (1971), p. 31
4. ^ "Preamble to the IWW Constitution". Industrial Workers of the World. Retrieved 2009-08-20.
5. ^ May 2019), Deborah Fisher in. "Espionage Act of 1917". www.mtsu.edu. Retrieved 2019-10-31.
6. ^ a b Cole, David D. (2003). "Enemy Aliens" (PDF). Stanford Law Review. Stanford Law Review, Vol. 54, No. 5. 54 (5): 953–1004. doi:10.2307/1229690. ISSN 0038-9765. JSTOR 1229690. OCLC 95029839. Archived from the original (PDF) on August 15, 2011.
7. ^ "The Red Scare [ushistory.org]". www.ushistory.org. Retrieved 2019-10-31.
8. ^ a b Cowley, Marcie K. "Red Scare". www.mtsu.edu. Retrieved 2019-10-31.
9. ^ Farquhar, Michael (2003). A Treasury of Great American Scandals. Penguin Books. p. 199. ISBN 0-14-200192-9. OCLC 51810711. "A Treasury of Great American Scandals."
10. ^ Hakim, Joy (1995). War, Peace, and All That Jazz. New York, New York: Oxford University Press. pp. 34–36. ISBN 0-19-509514-6.
11. ^ Gage, Beverly (2009). The Day Wall Street Exploded: A Story of America in its First Age of Terror. New York: Oxford University Press. pp. 160–161. ISBN 978-0-19-514824-4. OCLC 149137353. "The Day Wall Street Exploded."
12. ^ Kennedy, David M.; Lizabeth Cohen; Thomas A. Bailey (2001). The American Pageant. Houghton Mifflin Company. ISBN 978-0-669-39728-4. OCLC 48675667. "The American Pageant."
13. ^ O. Dickerson, Mark (2006). An Introduction to Government and Politics, Seventh Edition. Toronto: Nelson. ISBN 0-17-641676-5.
14. ^ Canada. The report of the Royal Commission appointed under Order in Council P. C. 411 of February 5, 1946 to investigate the facts relating to and the circumstances surrounding the communication, by public officials and other persons in positions of trust, of secret and confidential information to agents of a foreign power, June 27, 1946. Ottawa: E. Cloutier, Printer to the King, 1946.[verification needed]
15. ^ Mocking Bird Archived 2006-06-19 at the Wayback Machine, John Simkin, Spartacus Schoolnet
16. ^ See for example Wedge: The Secret War between the FBI and CIA, by Mark Riebling
17. ^ Johnpoll, Bernard K. (1994). A Documentary History of the Communist Party of the United States: Volume III Unite and Fight, 1934–1935. Westport, Connecticut: Greenwood Press. pp. xv. ISBN 978-0-313-28506-6. OCLC 27976811.
18. ^ Countryman, Edward (2010). "Communism". In Kazin, Michael; Edwards, Rebecca; Rothman, Adam (eds.). The Princeton Encyclopedia of American Political History. Princeton, NJ: Princeton University Press. p. 175. ISBN 978-0-691-12971-6. OCLC 320801248. Retrieved May 3, 2011.
19. ^ a b c d Storrs, Landon R. Y. (2015-07-02). "McCarthyism and the Second Red Scare". Oxford Research Encyclopedia of American History. doi:10.1093/acrefore/9780199329175.013.6. ISBN 9780199329175.
20. ^ "The Hiss Case in History". The Hiss Case in Story. Harvard, NYU. 2009. Archived from the original on May 14, 2011. Retrieved 2010-07-28.
21. ^ a b "McCarthyism [ushistory.org]". www.ushistory.org. Retrieved 2019-10-31.
22. ^ Lane, Frederick S. (2009). American Privacy: The 400-year History of Our Most Contested Right. Boston: Beacon Press. p. 130. ISBN 978-0-8070-4441-4. Retrieved May 3, 2011. "long step toward totalitarianism."
23. ^ Liu, Qing (May 2020). "To Be an Apolitical Political Scientist: A Chinese Immigrant Scholar and (Geo)politicized American Higher Education". History of Education Quarterly. 60 (2): 138–141, 144. doi:10.1017/heq.2020.10.
24. ^ Cowley, Marcie K. "Red Scare". www.mtsu.edu. Retrieved 2019-11-01.
25. ^ "Venona and the Russian Files". The Hiss Case in Story. Harvard, NYU. 2010. Archived from the original on May 14, 2011. Retrieved 2010-07-28.
26. ^ Commission on Protecting and Reducing Government Secrecy. "A Brief Account of the American Experience" (PDF). Report of the Commission on Protecting and Reducing Government Secrecy. VI; Appendix A. U.S. Government Printing Office. pp. A–7. Archived from the original (PDF) on May 14, 2011. Retrieved 2006-06-26.
## References and further reading[edit]
This further reading section may contain inappropriate or excessive suggestions that may not follow Wikipedia's guidelines. Please ensure that only a reasonable number of balanced, topical, reliable, and notable further reading suggestions are given; removing less relevant or redundant publications with the same point of view where appropriate. Consider utilising appropriate texts as inline sources or creating a separate bibliography article. (August 2013) (Learn how and when to remove this template message)
* K. A. Cuordileone, "The Torment of Secrecy: Reckoning with Communism and Anti-Communism After Venona", Diplomatic History, vol. 35, no. 4 (Sept. 2011), pp. 615–642.
* Albert Fried, McCarthyism, the Great American Red Scare: A Documentary History. New York: Oxford University Press, 1997
* Joy Hakim, War, Peace, and All That Jazz. New York: Oxford University Press, 1995.
* John Earl Haynes, Red Scare or Red Menace?: American Communism and Anti Communism in the Cold War Era. Ivan R. Dee, 2000.
* John Earl Haynes and Harvey Klehr, Venona: Decoding Soviet Espionage in America. Cambridge, MA: Yale University Press, 2000.
* Murray B. Levin, Political Hysteria in America: The Democratic Capacity for Repression. New York: Basic Books, 1972.
* Rodger McDaniel, Dying for Joe McCarthy's Sins. Cody, Wyo.: WordsWorth, 2013. ISBN 978-0983027591
* Ted Morgan, Reds: McCarthyism in Twentieth-Century America. New York: Random House, 2004.
* Robert K. Murray (1955). Red Scare: A Study in National Hysteria, 1919–1920. University of Minnesota Press. ISBN 9780816658336. Retrieved 17 May 2020.
* Richard Gid Powers, Not Without Honor: A History of American Anti-Communism. New York: Free Press, 1997.
* Regin Schmidt (2000). Red Scare: FBI and the Origins of Anticommunism in the United States, 1919–1943. Museum Tusculanum Press. ISBN 978-8772895819. OCLC 963460662.
* Ellen Schrecker, Many Are the Crimes: McCarthyism in America. Boston: Little, Brown, 1998.
* Landon R. Y. Storrs, The Second Red Scare and the Unmaking of the New Deal Left. Princeton, NJ: Princeton University Press, 2012.
* William M. Wiecek, "The Legal Foundations of Domestic Anticommunism: The Background of Dennis v. United States", Supreme Court Review, vol. 2001 (2001), pp. 375–434. JSTOR 3109693.
## External links[edit]
* "Political Tests for Professors: Academic Freedom during the McCarthy Years" by Ellen Schrecker, The University Loyalty Oath, October 7, 1999.
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Red Scare
|
None
| 28,124 |
wikipedia
|
https://en.wikipedia.org/wiki/Red_Scare
| 2021-01-18T19:07:56 |
{"wikidata": ["Q622454"]}
|
The fifth toe may show either 2 or 3 phalanges (Venning, 1953-54). Sib pairs showed a correlation coefficient of 0.28.
Limbs \- Fifth toe phalanges number Inheritance \- ? Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
TOE, FIFTH, NUMBER OF PHALANGES IN
|
c1861062
| 28,125 |
omim
|
https://www.omim.org/entry/189000
| 2019-09-22T16:32:30 |
{"omim": ["189000"]}
|
Localized lipodystrophy
SpecialtyDermatology
Localized lipodystrophy is a skin condition characterized by the loss subcutaneous fat localized to sites of insulin injection.[1]:497
## See also[edit]
* Lipodystrophy
* List of cutaneous conditions
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
## External links[edit]
Classification
D
External resources
* eMedicine: article/123125
* v
* t
* e
Disorders of subcutaneous fat
Panniculitis
Lobular
* without vasculitis
* Cold
* Cytophagic histiocytic
* Factitial
* Gouty
* Pancreatic
* Traumatic
* needle-shaped clefts
* Subcutaneous fat necrosis of the newborn
* Sclerema neonatorum
* Post-steroid panniculitis
* Lipodermatosclerosis
* Weber–Christian disease
* Lupus erythematosus panniculitis
* Sclerosing lipogranuloma
* with vasculitis: Nodular vasculitis/Erythema induratum
Septal
* without vasculitis: Alpha-1 antitrypsin deficiency panniculitis
* Erythema nodosum
* Acute
* Chronic
* with vasculitis: Superficial thrombophlebitis
Lipodystrophy
Acquired
* generalized: Acquired generalized lipodystrophy
* partial: Acquired partial lipodystrophy
* Centrifugal abdominal lipodystrophy
* HIV-associated lipodystrophy
* Lipoatrophia annularis
* localized: Localized lipodystrophy
Congenital
* Congenital generalized lipodystrophy
* Familial partial lipodystrophy
* Marfanoid–progeroid–lipodystrophy syndrome
* Poland syndrome
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Localized lipodystrophy
|
c4329999
| 28,126 |
wikipedia
|
https://en.wikipedia.org/wiki/Localized_lipodystrophy
| 2021-01-18T18:56:49 |
{"gard": ["5867"], "orphanet": ["79088"], "synonyms": [], "wikidata": ["Q6664635"]}
|
A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Endophthalmitis
|
c0014236
| 28,127 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199323
| 2021-01-23T18:47:17 |
{"mesh": ["D009877"], "umls": ["C0014236"], "icd-10": ["H44.0", "H44.1"]}
|
This article needs attention from an expert on the subject. Please add a reason or a talk parameter to this template to explain the issue with the article.
When placing this tag, consider associating this request with a WikiProject. (April 2010)
Tarlov cyst
Other namesPerineural cysts[1]
MRI image showing a Tarlov cyst.
SpecialtyOncology, neurology, radiology
Tarlov cysts, are type II innervated meningeal cysts, cerebrospinal-fluid-filled (CSF) sacs most frequently located in the spinal canal of the S1-to-S5 region of the spinal cord (much less often in the cervical, thoracic or lumbar spine), and can be distinguished from other meningeal cysts by their nerve-fiber-filled walls. Tarlov cysts are defined as cysts formed within the nerve-root sheath at the dorsal root ganglion.[2] The etiology of these cysts is not well understood; some current theories explaining this phenomenon have not yet been tested or challenged but include increased pressure in CSF, filling of congenital cysts with one-way valves, inflammation in response to trauma and disease. They are named for American neurosurgeon Isadore Tarlov, who described them in 1938.[3]
Tarlov cysts are relatively uncommon when compared to other neurological cysts. Initially, Isadore Tarlov believed them to be asymptomatic, however as his research progressed, Tarlov found them to be symptomatic in a number of patients. These cysts are often detected incidentally during MRI or CT scans for other medical conditions. They are also observed using magnetic resonance neurography with communicating subarachnoid cysts of the spinal meninges. Cysts with diameters of 1 cm or larger are more likely to be symptomatic; although cysts of any size may be symptomatic dependent on location and etiology. Some 40% of patients with symptomatic Tarlov cysts can associate a history of trauma or childbirth.[4] Current treatment options include CSF aspiration, complete or partial removal, fibrin-glue therapy, laminectomy with wrapping of the cyst, amongst other surgical treatment approaches. Interventional treatment of Tarlov cysts is the only means by which symptoms might permanently be resolved due to the fact that the cysts often refill after aspiration. Tarlov cysts often enlarge over time, especially if the sac has a check valve type opening. They are differentiated from other meningeal and arachnoid cysts because they are innervated and diagnosis can in cases be demonstrated with subarachnoid communication.
Tarlov perineural cysts have occasionally been observed in patients with Marfan syndrome, Ehlers–Danlos syndrome, and Loeys–Dietz syndrome.[5]
## Contents
* 1 Signs and symptoms
* 1.1 Appearance
* 1.2 Location
* 1.3 Difference between Tarlov cysts and other spinal meningeal cysts
* 1.4 Symptoms
* 1.5 Common symptoms specific to sacral Tarlov cysts
* 2 Cause
* 2.1 Formation
* 2.2 Hemorrhagic Infiltration
* 2.3 Enlargement
* 2.4 Rupture
* 3 Diagnosis
* 3.1 MRI
* 3.2 CT
* 3.3 Misdiagnosis
* 3.4 Classification
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
### Appearance[edit]
Walls of Tarlov cysts are thin and fibrous; they are prone to rupture if touched, making surgery difficult. The nerve fibers embedded in the walls of the cysts have the appearance and size of dental floss; these nerve fibers are usually not arranged in any specific alignment.[6] Histologic examination reveals the Tarlov-cyst outer wall is composed of vascular connective tissue, and the inner wall is lined with flattened arachnoid tissue. In addition, part of the lining containing nerve fibers also occasionally contains ganglion cells.[7] The cysts can contain anywhere from a couple of milliliters of CSF to over 2.5 litres (0.5 imp gal; 0.7 US gal) of CSF.[6][8][9]
### Location[edit]
Tarlov cysts are most commonly located in the S1 to S4/S5 region of the spinal canal, but can be found along any region of the spine. They usually form on the extradural components of sacrococcygeal nerve roots at the junction of dorsal root ganglion and posterior nerve roots and arise between the endoneurium and perineurium.[10] Occasionally, these cysts are observed in the lumbar and thoracic spine.[7] However, these cysts most commonly arise at the S2 or S3 junction of the dorsal nerve root ganglion.[11][12] The cysts are often multiple, extending around the circumference of the nerve, and can enlarge over time to compress neighboring nerve roots, to cause bone erosion.[13] The cysts may be found anterior to the sacral area and have been known to extend into the abdominal cavity. These cysts, though rare, can be found to grow large - over 3–4 centimetres (1.2–1.6 in) in size, often causing severe abdominal pain from compression on the cyst itself as well as adjoining nerves.[citation needed]
### Difference between Tarlov cysts and other spinal meningeal cysts[edit]
The following table is compilation of some key differences between Tarlov cysts, meningeal cysts, and arachnoid diverticula cysts.[14] Although the definitions for each entity are still controversial, the following items are generally accepted.[citation needed]
Tarlov Cyst Meningeal Diverticula & Arachnoid Diverticula
Potential communication with spinal subarachnoid space Communicates freely with spinal subarachnoid space
Delayed filling in myelograms Rapid filling in myelograms
Found distal to the junction of posterior nerve root and dorsal root ganglion in sacral region Found proximal to dorsal root ganglion throughout vertebral column
Walls contain nerve fibers Walls lined by arachnoid mater with no signs of neural element
Often multiple, extending around the circumference of nerve root No pattern of formation in regards to multiplicity
### Symptoms[edit]
Tarlov cysts are likely highly underdiagnosed as it was Isadore Tarlov's later research that led him to the understanding of their symptomology. Symptoms are based on the locations of the cysts along the spine, and follow general pathology of spinal injury:[citation needed]
* Pain
* Paresthesia
* Spasticity, Hypertonia
* Muscular Dysfunction or Weakness
* Radiculopathy
Although they are most frequently reported along sacral regions, they are rarely seen in other locations along the spine.[15] Women are more likely to exhibit symptoms [16][17] They can also appear in clusters or bilaterally along the spine, thus symptoms can be unilateral, bilateral, or with symptoms more dominant on one side. The cases of reported symptomatic Tarlov cysts ranges from 15% to 30% of the overall reported Tarlov cyst case, depending on the source of literature. Nevertheless, these cysts are important clinical entities because of their tendency to increase in size over time, potentially causing complications and eroding the surrounding bone tissue.[11][13][18] Patients with symptomatic Tarlov cysts near the sacrum (and not other locations of the spine) can be divided into 4 categories, according to their experienced symptoms:[6]
* Group 1 - Pain on tailbones that radiates to the legs with potential weakness;
* Group 2 - Pain on bones, legs, groin area, sexual dysfunctions, and dysfunctional bladder;
* Group 3 - Pain that radiate from the cyst site across hips to the lower abdomen;
* Group 4 - No pain, just sexual dysfunction and dysfunctional bladder.
### Common symptoms specific to sacral Tarlov cysts[edit]
Below are a list of commonly reported symptoms associated with sacral Tarlov cysts:
Back pain, perineal pain, secondary Sciatica, secondary piriformis muscle dysfunction with tertiary sciatica, Cauda equina syndrome, neurogenic claudication (pain caused by walking), neurogenic bladder, dysuria, urinary incontinence, coccygodynia, sacral radiculopathy, radicular pain, headaches, retrograde ejaculation, paresthesia, hypesthesia, secondary pelvic floor dysfunction, vaginismus, motor disorders in lower limbs and the genital, perineal, or lumbosacral areas, sacral or buttocks pain, vaginal or penile paraesthesia, Persistent Genital Arousal Disorder (PGAD) characterized by unwanted, unrelenting genital sensory awareness, itch or pain that can persist for days, months, even years)<Komisaruk, B.R. & Lee, H-J. (2012). Prevalence of sacral spinal (Tarlov) cysts in Persistent Genital Arousal Disorder. J. Sexual Medicine, 9: 2047–2056[19]>, sensory changes over buttocks, perineal area, and lower extremity;[11][7][13][20][21] difficulty walking; severe lower abdominal pain, bowel dysfunction, intestinal motility disorders like constipation or bowel incontinence.
## Cause[edit]
### Formation[edit]
There are several hypotheses proposed regarding the formation of Tarlov cysts, including: hemorrhagic infiltration of spinal tissue, inflammation within the nerve root cysts followed by inoculation of fluids, developmental or congenital origin, arachnoidal proliferation along and around the exiting sacral nerve root, and breakage of venous drainage in the perineuria and epineurium secondary to hemosiderin deposition after trauma.[10] Tarlov himself theorized that the perineural cysts form as a result of blockage of venous drainage in the perineurium and epineurium secondary to hemosiderin deposition, after local trauma.[13][22] Another theory gaining increasing popularity, over the past decade, is one postulated by Fortuna et al.; it described perineural cysts to be the results of congenital arachnoidal proliferation along the exiting sacral nerve roots.[8] Some research on the migration of inflammatory cell into spinal has been studied. Additionally, in vivo and in vitro studies show inflammation induced by CNS injury causes distinct cystic cavitations created by astrocyte migration.[23]
### Hemorrhagic Infiltration[edit]
Many authors state that blood and its breakdown products acting as foreign-body substance in the subarachnoid space produce local adhesive arachnoiditis with no symptoms, but it also can create cystic degeneration. The subarachnoid space abhors all foreign body substances. Even the presence of injected air is considered to be a "foreign body". Blood definitely is considered a foreign body, particularly in its breakdown products. Repeated exposure to foreign body substances in the subarachnoid space or spinal injury can initiate auto-immune amnestic reactions which may potentiate and magnify the ongoing inflammatory process causing cystic cavitation in spinal tissue.[citation needed]
### Enlargement[edit]
Tarlov cysts are known to have the tendency to enlarge over time. The prominent theory that explains this phenomenon reasons the enlargement of the cysts is due to the cerebrospinal fluid being pushed into the cyst during systole pulsation, but unable to get out during the diastole phase, resulting in enlargement observed in clinical settings over time. Increased ICP from trauma or other injury, childbirth, and overextertion are thought to trigger enlargement along with inflammation and hemorrhagic infiltration. With the cysts often containing a valve like mechanism fluid becomes trapped, and the meningeal sac or nerve sheath grows in size. Some patients have been diagnosed for up to 20 years with little change in size, and those with small stable cysts may avoid much progression of symptoms. Those with generally larger sacral cysts pressed along the sacrum cause the sacrum to become eroded and thin.[citation needed]
### Rupture[edit]
When Tarlov cysts are ruptured or drained they cause leakage of cerebrospinal fluid (CSF). Ruptures of Tarlov cysts have been reported associated with communicating aneurysms and from fracture in the proximity of the cysts.[24] An undetected rupture can cause intracranial hypotension, including orthostatic neurological symptoms along with headache, nausea, and vomiting that improve when supine. The ruptured cysts can be patched either with a biosynthetic dural patch or using a blood patch to stem the flow of CSF.[citation needed]
## Diagnosis[edit]
Both CT and MRI are good imaging procedures that allow the detection of extradural spinal masses such as Tarlov cysts. Magnetic resonance neurography is an emerging imaging technology based on MRI that highlights neurologic tissue. Often cysts are under reported and under diagnosed as radiologists and neurosurgeons have been traditionally taught to ignore these cysts. Patients frequently experience difficulty in diagnosis, however this is changing as Tarlov cysts have now been recognized by NORD as a rare disease.[16]
### MRI[edit]
MRI sagittal image of sacral and dorso-lumbar perineural cysts.
MRI, or Magnetic Resonance Imaging, is considered the imaging study of choice in identifying Tarlov cysts. MRI provides better resolution of tissue density, absence of bone interference, multiplanar capabilities, and is noninvasive. Plain films may show bony erosion of the spinal canal or of the sacral foramina[citation needed] On MRI pictures, the signal is the same as the CSF one.
If MRI made with a contrast medium:[citation needed]
* The signal in the cyst is the same as in the dural bag.
* The signal for cysts due to traumas…is a little stronger at the periphery or nerve root location
* The signal is more important for other causes: synovial cysts, dermoïdes or épidermoïdes cysts, teratomes[7][25][26]
### CT[edit]
A computed tomography (CT) scan is another examination method often used for the diagnosis of Tarlov cyst. Unenhanced CT scans may show sacral erosion, asymmetric epidural fat distribution, and cystic masses that have the same density with CSF.[7] CT Myelogram is minimally invasive,[27] and could be employed when MRI cannot be performed on patient.
### Misdiagnosis[edit]
The terms "Tarlov cyst" or "sacral perineural cyst" refer to cystic lesions of the spinal meninges with innervation as well as nerve sheath dilatations with subarchnoid communication. While they were once thought to be a histopathological finding,[10] they can be radiologically confirmed by specialized time lapsed MRI and CT imaging techniques showing subarchnoid communication from the nerve fibers in the cysts. They can also be surgically verified when the nerve fibers are visualized in the cystic sac. Often the cysts cause erosion from enlargement, damaging vertebrae and discs and can be misdiagnosed as primary stenosis or disc herniation.[citation needed]
### Classification[edit]
Tarlov cysts are considered Type II lesions, being defined as extradural meningeal cysts with nerve fibers.[14] Nabors et al. classify Arachnoïd cysts into three types:
* Type I : Extra-dural; no nerve roots or rootlets such as intra-sacral meningoceles; probably of congenital origin developing from the dural sac to which they are connected by a little collar. They are found at the point of exit of a dorsal nerve root from the dural sac. They are sometimes difficult to identify and can be "seen" as a type II cyst on imaging. These cysts are often associated with foramina enlargement and scalloping of the vertebrae. It is very important to distinguish them from sacral meningoceles going to the pelvic area; they are often associated with other congenital abnormalities (teratomes, dermoïdes, lipomes, and other abnormalities(uro-genital and ano-rectal))
* Type II: Extra-dural; nerve root present (such as Tarlov or perineural cysts). There are often not only one but multiple cysts, mostly found in the sacrum area. There are two types: Tarlov (perineural) cysts are located posteriorly to the root ganglion, with nerve fibres inside or nerve tissue in the walls; they are not communicating with the perineural arachnoid space. Type-II cysts are very small in the upper sacral area, but can be bigger (up to 3 centimetres or 1.2 inches) if found located in the lower part of the sacrum. The second variant of type-II cysts are called "meningeal diverticuli". They are located anteriorly to the nerve root ganglion, with nerves fibres inside and communicating with the subarachnoid space.
* Type III: intra-dural; these are either congenital or caused by trauma; they are rarely associated with other abnormalities and rare in occurrence. About 75% can be found in the dorsal area. Most of the congenital type-III cysts can be found posteriorly to the spinal cord, as opposed to those caused by trauma which can be found anteriorly to the spinal cord.[14][11]
Post traumatic inflammation induces cavitation and cystic formation and leads to greater secondary CNS injury.[23] Cellular migration causing these cyst cavities was observed both in vitro and in vivo and cavitation was observed to be prevented with the use of an anti-inflammatory. Further more migration inflammatory cells into traumatized tissue has been observed with inflammation.
## Treatment[edit]
Because of the unclear pathogenesis and pathophysiology of Tarlov cysts, there is no consensus on the optimal treatment of symptomatic sacral perineural cysts. Patients often choose to pursue treatment when the progression of neurological deficits seriously impacts their quality of life. Since cysts are innervated, microfenestration and surgical sleeving of the cysts to diminish the amount of accumulated cerebrospinal fluid and decrease compression of the spine and spinal nerves has been successful in a number of patients. The cysts are carefully separated enough from surrounding tissue to be wrapped with fatty tissue or pericardial biomaterial to excise the fluid from the cyst. If the cyst does not drain spontaneously, then it is drained and patched using a biosynthetic dural patch. The use of this technique is done in the U.S. and is spreading in Europe but recovery is generally extensive. Microfenestration alone has been done with some success in Asia. A biopolymer plate is also being used experimentally to strengthen a sacrum thinned by cystic erosion. The risks of CSF leakage are higher on patients that have bilateral cysts on the same spinal level or clusters of cysts along multiple vertebrae, but immediate recognition of the leakage and repair can mitigate that risk.[citation needed]
Various treatment methods have been tried in the past, including the extraction of cerebrospinal fluids from the cyst, fibrin glue injection and the complete or partial removal of cyst. Epidurals can provide temporary relief but are not generally recommended as they can cause cysts to enlarge. Extraction of fluid can provide limited or no relief depending on rate the cysts refill and the need to repeat the procedure. Removal of the cyst results in irreversible damage to the intersecting spinal nerve. Although fibrin-glue therapy initially had been thought to be a promising therapy in the treatment of these cysts, there have been multiple problems associated with the fibrin glue therapy including seepage of fibrin. It is no longer[when?] recommended for use at present by the Health Department in some countries and neurosurgeons previously performing the procedures. Nevertheless, all types of surgical treatment pose common risks, including neurological deficits, infection and inflammation, spinal headache, urinary disturbances, and leakage of cerebrospinal fluids.[citation needed]
## References[edit]
1. ^ Ju CI, Shin H, Kim SW, Kim HS (March 2009). "Sacral perineural cyst accompanying disc herniation". J Korean Neurosurg Soc. 45 (3): 185–7. doi:10.3340/jkns.2009.45.3.185. PMC 2666123. PMID 19352483.
2. ^ Goyal RN, Russell NA, Benoit BG, Belanger JM (1987). "Intraspinal cysts: a classification and literature review". Spine. 12 (3): 209–213. doi:10.1097/00007632-198704000-00003. PMID 3589815. S2CID 13083611.
3. ^ Kumar Singh Pankaj; Kumar Singh Vinay; Azam Amir; Gupta Sanjeev (2009). "Tarlov Cyst and Infertility". J Spinal Cord Med. 32 (2): 191–197. doi:10.1080/10790268.2009.11760771. PMC 2678291. PMID 19569467.
4. ^ Nishiura I, Koyama T, Handa J (1985). "Intrasacral perineural cyst". Surg Neurol. 23 (3): 265–269. doi:10.1016/0090-3019(85)90093-x. PMID 3975809.
5. ^ Oaklander AL, Long DM, Larvie M, Davidson CJ (February 28, 2013). "Case 7-2013: A 77-year-old woman with long-standing unilateral thoracic pain and incontinence". New England Journal of Medicine. 368 (9): 853–861. doi:10.1056/NEJMcpc1114034. PMID 23445097.
6. ^ a b c "Donlin Long., The Johns Hopkins Hospital Dept. of Neurosurgery, interviewed by Hsuan Chen, Oct. 6th, 2009."
7. ^ a b c d e Nadler S. F.; Bartoli L. M.; Stitik T. P.; Chen B. Q. (2001). "Tarlov cyst as a rare cause of S1 radiculopathy: A case report". Archives of Physical Medicine and Rehabilitation. 82 (5): 689–690. doi:10.1053/apmr.2001.22353. PMID 11346849.
8. ^ a b Tanaka M.; Nakahara S.; Ito Y.; Nakinishi K.; Sugimoto Y.; Ikuma H.; et al. (2006). "Surgical results of sacral perineural (Tarlov) cysts". Acta Medica Okayama. 60 (1): 65–70. doi:10.18926/AMO/30758. PMID 16508691.
9. ^ Ishii K.; Yuzurihara M.; Asamoto S.; Doi H.; Kubota M. (2007). "A huge presacral Tarlov cyst - Case report". Journal of Neurosurgery: Spine. 7 (2): 259–263. doi:10.3171/spi-07/08/259. PMID 17688070.
10. ^ a b c Guo D. S.; Shu K.; Chen R. D.; Ke C. S.; Zhu Y. C.; Lei T. (2007). "Microsurgical treatment of symptomatic sacra perineural cysts". Neurosurgery. 60 (6): 1059–1065. doi:10.1227/01.neu.0000255457.12978.78. PMID 17538380. S2CID 19865258.
11. ^ a b c d Singh P. K.; Singh V. K.; Azam A.; Gupta S. (2009). "Tarlov Cyst and Infertility". Journal of Spinal Cord Medicine. 32 (2): 191–197. doi:10.1080/10790268.2009.11760771. PMC 2678291. PMID 19569467.
12. ^ Hefti M.; Landolt H. (2006). "Presacral mass consisting of a meningocele and a Tarlov cyst: successful surgical treatment based on pathogenic hypothesis". Acta Neurochirurgica. 148 (4): 479–483. doi:10.1007/s00701-005-0684-2. PMID 16322904. S2CID 38922449.
13. ^ a b c d Tarlov I. M. (1970). "Spinal Perineural and Meningeal Cysts". J. Neurol. Neurosurg. Psychiatry. 33 (6): 833–43. doi:10.1136/jnnp.33.6.833. PMC 493601. PMID 5531903.
14. ^ a b c Nabors MW, Pait TG, Byrd EB, et al. (1988). "Updated Assessment and Current Classification of Spinal Meningeal cysts". J Neurosurg. 68 (3): 366–377. doi:10.3171/jns.1988.68.3.0366. PMID 3343608.
15. ^ Kim K, Chun SW, Chung SG (Jan 2012). "A case of symptomatic cervical perineural (Tarlov) cyst: clinical manifestation and management". Skeletal Radiology. 41 (1): 97–101. doi:10.1007/s00256-011-1243-y. PMID 21830055. S2CID 20745546.
16. ^ a b uri=https://rarediseases.org/rare-diseases/tarlov-cysts/ access date: September 17, 2015
17. ^ uri=http://www.marianjoy.org/Research/documents/PDFs/2014/Dugan_TarlovCystsFinal2.20.pdf
18. ^ Tarlov I. M. (1953). "Sacral Nerve-Root Cysts- Pathogenesis and Clinical Significance". Journal of Nervous and Mental Disease. 117 (2): 156–7. PMID 13061961.
19. ^ Komisaruk, Barry; Lee, Huey-Jen (2012). "Prevalence of sacral spinal (Tarlov) cysts in Persistent Genital Arousal Disorder". Journal of Sexual Medicine. 9 (8): 2047–2056. doi:10.1111/j.1743-6109.2012.02765.x. PMID 22594432.
20. ^ Moldes M. R.; Rodriguez-Losada J. S.; Garcia D. L.; Agudo V. C.; Pais J. M. J.; Martin M. G. (2008). "Tarlov Cyst and Symptomatic Bladder Disfuction". Actas Urologicas Espanolas. 32 (10): 1035–1036. doi:10.1016/s0210-4806(08)73984-6. PMID 19143297.
21. ^ Feigenbaum F., Boone K. (Sep 3, 2015). "Persistent Genital Arousal Disorder Caused by Spinal Meningeal Cysts in the Sacrum: Successful Neurosurgical Treatment". Obstetrics and Gynecology. 126 (4): 839–43. doi:10.1097/AOG.0000000000001060. PMID 26348167. S2CID 205467092.CS1 maint: uses authors parameter (link)
22. ^ Zhang Tao; Li Zhenhua; Gong Weiming; Sun Bingwei; Liu Shuheng; Zhang Kai; Yin Dezhen; Xu Peng; Jia Tanghong (2007). "Percutaneous Fibrin Glue Therapy for Meningeal Cysts of the Sacral Spine with or without Aspiration of the Cerebrospinal Fluid". J Neurosurg Spine. 7 (2): 145–150. doi:10.3171/spi-07/08/145. PMID 17688053.
23. ^ a b Finch et al. (1999). "Cellular and molecular mechanisms of glial scarring and progressive cavitation: In vivo and in vitro analysis of inflammation-induced secondary injury after CNS trauma". Journal of Neuroscience. 19 (19): 8182–98. doi:10.1523/JNEUROSCI.19-19-08182.1999. PMID 10493720. S2CID 19029005.CS1 maint: uses authors parameter (link)
24. ^ Sivakumar W, Ravindra VM, Cutler A, Couldwell WT. (Jun 2014). "Intracranial hypotension in the setting of concurrent perineural cyst rupture and subarachnoid hemorrhage". Journal of Clinical Neuroscience. 21 (6): 1063–5. doi:10.1016/j.jocn.2013.10.011. PMID 24314847. S2CID 28052856.CS1 maint: uses authors parameter (link)
25. ^ From "Imagerie par Résonnance Magnétique de la Tête et du rachis" (Case 87,93), kystes méningés rachidiens, pages 684/685, Jean Claude Tamraz, C. Outin, M. Forjaz Secca - 2004, Medical - 717 pages: Springer Verlag.
26. ^ Principes d'imagerie par résonance magnétique de la tête, de la base du crâne et du rachis, Approche anatomo-clinique et guide d'interprétation, Tamraz, J., Outin, C., Forjaz Secca, M., Soussi, B., 2ieme ed. revue et augmentée, 2004, XII, 717 p., Broché, ISBN 978-2-287-59742-8.
27. ^ Lee J. Y.; Impekoven P.; Stenzel W.; Lohr M.; Ernestus R. I.; Klug N. (2004). "CT-guided percutaneous aspiration of Tarlov cyst as a useful diagnostic procedure prior to operative intervention". Acta Neurochirurgica. 146 (7): 667–670. doi:10.1007/s00701-004-0274-8. PMID 15197609. S2CID 23170709.
## External links[edit]
Classification
D
* ICD-9-CM: 355.9
* MeSH: D052958
* DiseasesDB: 32082
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Tarlov cyst
|
c0520720
| 28,128 |
wikipedia
|
https://en.wikipedia.org/wiki/Tarlov_cyst
| 2021-01-18T18:29:42 |
{"gard": ["9258"], "mesh": ["D052958"], "umls": ["C0520720"], "icd-9": ["355.9"], "orphanet": ["65250"], "wikidata": ["Q1648960"]}
|
A number sign (#) is used with this entry because of evidence that nephronophthisis-13 (NPHP13) is caused by homozygous or compound heterozygous mutation in the WDR19 gene (608151) on chromosome 4p14.
For a general phenotypic description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100).
Clinical Features
Bredrup et al. (2011) studied a nonconsanguineous Moroccan family in which 3 of 6 sibs had nephronophthisis, 1 had mild proteinuria and a glomerular filtration rate at the lower limit of normal, and 2 sibs were unaffected. The oldest affected brother and sister had end-stage renal disease by 19 and 20 years of age, respectively, whereas their younger sister had end-stage renal failure at 13 years of age. The affected brother had no skeletal abnormalities, and ophthalmoscopy showed a retinal microaneurysm in the right eye. The younger of the 2 affected sisters had growth retardation, normal visual acuity and ophthalmoscopy, normal ultrasound of the thorax, and normal liver function.
Halbritter et al. (2013) reported 4 unrelated patients with nephronophthisis, all of whom had additional features of a ciliopathy, including retinal dystrophy (see Senior-Loken syndrome-8, 616307), dilatation of the intrahepatic bile ducts, and pancreatic and hepatic cysts. The findings broadened the spectrum of ciliary clinical features associated with WDR19 mutations.
Molecular Genetics
Bredrup et al. (2011) performed haplotype analysis in a nonconsanguineous Moroccan family with nephronophthisis and found that the affected sibs shared 11 chromosomal regions, none of which encompassed known NPHP loci. Exome sequencing in 1 of the affected sibs revealed a single gene, WDR19 (608151), in which 2 variants segregated with disease in the family: the 3 sibs with NPHP and their younger sister with mild renal disease were all compound heterozygous for a missense (V345G; 608151.0004) and a nonsense (Y1023X; 608151.0005) mutation in WDR19. Their unaffected father was heterozygous for Y1023X and their 2 unaffected sibs were heterozygous for V345G; V345G was not found in 200 ethnically matched controls. However, their asymptomatic mother, who was born of consanguineous parents, was found to be homozygous for the V345G mutation. Based on bioinformatic analyses and the location of the mutation, Bredrup et al. (2011) proposed that the V345G variant only mildly affects IFT144 function, but that association with the nonsense mutation results in a renal phenotype.
Halbritter et al. (2013) identified biallelic mutations in the WDR19 gene in a patient with nephronophthisis who also exhibited dilatation of the intrahepatic bile ducts (608151.0008-608151.0009). The patient was ascertained from a larger cohort of 1,056 patients with nephronophthisis-related disorders who underwent genetic analysis.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Retinal dystrophy (in some patients) ABDOMEN Liver \- Dilatation of the intrahepatic bile ducts (in some patients) \- Hepatic cysts (in some patients) Pancreas \- Pancreatic cysts (in some patients) GENITOURINARY Kidneys \- Small kidneys \- Mild proteinuria (in some patients) \- Renal failure, endstage \- Interstitial fibrosis \- Sclerotic glomeruli, 50% to 75% SKELETAL Hands \- Polydactyly (in some patients) MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein-19 gene (WDR19, 608151.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
NEPHRONOPHTHISIS 13
|
c0687120
| 28,129 |
omim
|
https://www.omim.org/entry/614377
| 2019-09-22T15:55:27 |
{"doid": ["0111121"], "omim": ["614377"], "orphanet": ["655"], "genereviews": ["NBK368475"]}
|
A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Neurenteric cyst
|
c0027806
| 28,130 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268865
| 2021-01-23T18:13:57 |
{"mesh": ["D009436"], "umls": ["C0027806"]}
|
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ondine syndrome
|
c1275808
| 28,131 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=661
| 2021-01-23T18:39:54 |
{"gard": ["8535"], "mesh": ["C536209"], "omim": ["209880"], "umls": ["C1275808"], "icd-10": ["G47.3"], "synonyms": ["CCHS", "Central congenital hypoventilation syndrome", "Congenital central alveolar hypoventilation syndrome", "Ondine curse"]}
|
A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding steroid 17-monooxygenase (CYP17A1; 609300). The enzyme has both 17-alpha-hydroxylase and 17,20-lyase activities.
Clinical Features
Deficiency of adrenal 17-hydroxylation activity was first demonstrated in a single 46,XX patient by Biglieri et al. (1966), who suggested a similar defect in the gonad. Production of excessive corticosterone and deoxycorticosterone resulted in hypertension and hypokalemic alkalosis. Aldosterone synthesis was almost totally absent. The patient had normal stature and amenorrhea. Although there were no other cases in the family and parental consanguinity was not noted, recessive inheritance was possible. Biglieri (1997) reviewed the evolution of the clinical features and laboratory findings in this case over 3 years.
Goldsmith et al. (1967) reported a second case in whom the defect in 17-alpha-hydroxylation may have been less complete than in the first case. The patient was a 26-year-old 46,XX woman with hypertension, primary amenorrhea, and lack of secondary sexual characteristics. Mallin (1969) described congenital adrenal hyperplasia due to 17-hydroxylase deficiency in 2 sisters. New (1970) reported the first affected male. The clinical features were pseudohermaphroditism with ambiguous external genitalia and prominent breast development at puberty. Unlike the previously reported female cases, this male patient did not demonstrate severe hypertension or hypokalemia. Testicular feminization was simulated in a patient reported by Heremans et al. (1976).
Yazaki et al. (1982) reported a Japanese phenotypic female, born of consanguineous parents, with generalized muscle weakness due to hypokalemic myopathy, primary amenorrhea, and lack of pubertal development. Laparoscopy showed intraabdominal testes and no uterus. Karyotype was 46,XY. Laboratory studies showed increased plasma progesterone, corticosterone, aldosterone, ACTH (see 176830), LH (see 152780), and FSH (see 136530). Glucocorticoid replacement normalized plasma levels of ACTH, 17-deoxysteroids, and potassium. This patient was later found to have a homozygous mutation in the CYP17A1 gene (609300.0011; Yamaguchi et al., 1997), consistent with combined complete 17-alpha-hydroxylase/17,20-lyase deficiency.
Scaroni et al. (1991) reported a family in which 3 members, 2 adult females and 1 pubertal-aged genotypic male, had congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency. All presented as phenotypic females with lack of sexual development and hypokalemic hypertension. Baseline hormonal studies showed low glucocorticoid, androgen, and estrogen levels. As a consequence, ACTH, LH, and FSH concentrations were increased. Plasma renin and aldosterone were also decreased. Short-term dexamethasone treatment normalized potassium and reduced blood pressure and the abnormal mineralocorticoid levels.
Martin et al. (2003) reported 11 patients from 6 Brazilian families with combined 17-alpha-hydroxylase/17,20-lyase deficiency. All patients had elevated basal serum levels of progesterone and suppressed plasma renin activity. The authors concluded that basal progesterone measurement is a useful marker of P450c17 deficiency and that its use should reduce the misdiagnosis of this deficiency in patients presenting with male pseudohermaphroditism, primary or secondary amenorrhea, and mineralocorticoid excess syndrome.
### Combined Partial 17-alpha-Hydroxylase/17,20-Lyase Deficiency
Oshiro et al. (1995) reported a 32-year-old Japanese woman with combined partial 17-alpha-hydroxylase/17,20-lyase deficiency caused by mutation in the CYP17A1 gene (609300.0008). The patient was referred because of hypertension and amenorrhea. She had menarche at the age of 14 years with irregular menstruation until the age of 20, but no menstruation thereafter. Hypertension had been known since the age of 20 years. She had a flat chest, infantile genitalia, and no pubic or axillary hair. Computed tomography revealed bilateral adrenal hyperplasia without tumors, uterine hypoplasia, and atrophy of the ovaries. The patient had hypokalemia, metabolic alkalosis, and positive Trousseau sign.
Yanase et al. (1989) reported a Japanese woman with combined partial 17-alpha-hydroxylase/17,20-lyase deficiency caused by mutation in the CYP17A1 gene (609300.0002). Functional expression studies showed that 17-alpha-hydroxylase and 17,20-lyase activities were less than 37% and 8% of normal, respectively. On a visit to the hospital at the age of 20 because of occipital headache, the patient was found to have hypertension and hypokalemia. Menstruation was irregular. Physical examination showed hypoplastic breasts and no pubic or axillary hair. Miura et al. (1996) reported follow-up of the Japanese woman reported by Yanase et al. (1989). In 1968, she was reported as having glucocorticoid-responsive hyperaldosteronism. She was treated with dexamethasone, resulting in normal blood pressure and normokalemia for 28 years. Because of sustained vaginal bleeding, she had a total hysterectomy at age 42. No follicles or corpus luteum were detected in the ovarian specimen. At age 45 years, she had decreased levels of sex steroids and increased levels of gonadotropins. Miura et al. (1996) concluded that the disorder resulted in early reduction of gonadal function with increasing age.
### Isolated 17,20-Lyase Deficiency
Geller et al. (1997) reported 2 patients with 46,XY karyotypes with isolated 17,20-lyase deficiency caused by different homozygous mutations in the CYP17A1 gene (609300.0012 and 609300.0013, respectively). The first patient showed genital ambiguity at birth, and was assigned female gender. When seen at 13 months of age, the patient showed a 2.2-cm phallus, perineal hypospadias, bilateral gonads palpable in a bifid scrotum, and a blind vaginal pouch seen on urethrocystograms. The parents were first cousins. Serum cortisol and electrolytes and blood pressure were normal. Gonadotropins were at normal prepubertal level in this patient. Testicular stimulation with human chorionic gonadotropin elicited grossly subnormal responses of testosterone, DHEA, and androstenedione. Basal and hCG-stimulated progesterone was normal. The second patient also showed genital ambiguity at birth, and was assigned male gender. Gynecomastia developed at 14 years of age, and at 16 years the breasts were Tanner stage V; pubic hair was Tanner stage IV, but there was minimal body hair. The genitalia were characterized by a 4.5-cm phallus, perineal hypospadias, bifid scrotum, small descended testis on the right and left in the inguinal canal, and a blind vaginal pouch detected by urethrocystography. The parents denied consanguinity.
Biason-Lauber et al. (1997) reported a newborn male patient from Israel with micropenis, undescended testes, and a hormonal pattern consistent with isolated 17,20-lyase deficiency. They found compound heterozygosity for mutations in the CYP17A1 gene. Gupta et al. (2001) studied one of the mutations and was unable to demonstrate activity consistent with the diagnosis. Hershkovitz et al. (2008) restudied this patient along with 3 other affected male relatives. They found deficiency of cytochrome P450 oxidoreductase (POR) caused by homozygosity for a mutation in the POR gene (124015.0016) in these individuals. Sequencing of the CYP17A1 in 2 different laboratories failed to find the mutations reported by Biason-Lauber et al. (1997). Hershkovitz et al. (2008) concluded that POR deficiency (201750) can masquerade clinically as isolated 17,20-lyase deficiency.
### Reviews
Auchus (2017) reviewed the genetic and pharmacologic features of steroid 17-hydroxylase and 17,20-lyase deficiencies.
Mapping
Mantero et al. (1980) found no evidence of linkage between HLA and 17-alpha-hydroxylase deficiency. D'Armiento et al. (1983) demonstrated that, like 11-beta-hydroxylase deficiency (202010), 17-alpha-hydroxylase deficiency is not linked to HLA.
Molecular Genetics
In a patient with combined 17-alpha-hydroxylase/17,20-lyase deficiency, Kagimoto et al. (1988) identified a 4-base duplication in the CYP17A1 gene (609300.0001), resulting in the loss of both enzymatic activities.
In 2 patients with isolated 17,20-lyase deficiency from a small village in Brazil, Geller et al. (1997) identified 2 different homozygous mutations in the CYP17A1 gene (609300.0012; 609300.0013). When expressed in COS-1 cells, the mutants retained 17-alpha-hydroxylase activity, but had minimal 17,20-lyase activity.
Yanase et al. (1991) stated that since the first description by Biglieri et al. (1966), at least 122 cases of 17-alpha-hydroxylase deficiency had been reported. Furthermore, 14 cases of 17,20-lyase deficiency had been reported in which 17-alpha-hydroxylase activity remained normal, this being a major reason that the 2 enzymes were long thought to be different. Yanase et al. (1991) reviewed 8 cases in which intragenic lesions had been identified.
In 11 patients from 6 Brazilian families with combined 17-alpha-hydroxylase/17,20-lyase deficiency, Martin et al. (2003) identified mutations in the CYP17A1 gene (609300.0009; 609300.0023-609300.0026).
GU \- Ambiguous genitalia \- Primary amenorrhea \- Male pseudohermaphroditism Inheritance \- Autosomal recessive Metabolic \- Hypertension \- Hypokalemic alkalosis Lab \- 17-alpha-hydroxylase deficiency \- ACTH increased \- FSH increased Thorax \- Gynecomastia Endo \- Adrenogenital syndrome ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
|
c0268285
| 28,132 |
omim
|
https://www.omim.org/entry/202110
| 2019-09-22T16:31:26 |
{"doid": ["0050811"], "mesh": ["C538237"], "omim": ["202110"], "orphanet": ["90793", "418", "90796"], "synonyms": ["Alternative titles", "ADRENAL HYPERPLASIA V", "17-ALPHA-HYDROXYLASE DEFICIENCY"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see 153600.
Mapping
McMaster et al. (2006) performed a genomewide linkage analysis in 11 high-risk families with WM that were informative for linkage, for a total of 122 individuals with DNA samples, including 34 patients with WM and 10 patients with IgM monoclonal gammopathy of undetermined significance (IgM MGUS). The strongest evidence of linkage was found on chromosome 1q and 4q when patients with WM and with IgM MGUS were both considered affected; nonparametric linkage scores were 2.5 (p = 0.0089) and 3.1 (p = 0.004), respectively. Other locations suggestive of linkage were found on chromosomes 3 and 6. Results of 2-locus linkage analysis were consistent with independent effects.
Molecular Genetics
See WM1 (153600) and MYD88 (602170.0004) for discussion of a commonly recurring somatic mutation in patients with Waldenstrom macroglobulinemia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2
|
c0024419
| 28,133 |
omim
|
https://www.omim.org/entry/610430
| 2019-09-22T16:04:30 |
{"doid": ["0050747"], "mesh": ["D008258"], "omim": ["610430"], "orphanet": ["33226"]}
|
Fibrocystic breast changes
Other namesFibrocystic change, fibrocystic breast disease,[1] fibrocystic breast condition
Micrograph showing fibrocystic breast changes. H&E stain.
SpecialtyGynaecology
SymptomsBreast pain, breast cysts, breast masses[2]
Usual onset30 to 50 years old[1]
Risk factorsEarly age at first menstrual period, having children late or not having children[2]
Diagnostic methodPeriodic examination, possibly medical imaging or breast biopsy[1]
Differential diagnosisBreast cancer[1]
TreatmentEducation about the condition, a well fitting bra, pain medication[1]
PrognosisGood[1]
FrequencyUp to 60% of women[3]
Fibrocystic breast changes is a condition of the breasts where there may be pain, breast cysts, and breast masses.[1] The breasts may be described as "lumpy" or "doughy".[3] Symptoms may worsen during certain parts of the menstrual cycle.[1] It is not associated with cancer.[2]
Risk factors include an early age at first menstrual period and either having children late or not having children.[2] It is not a disease but represents normal breast changes.[3] Diagnosis typically involves ruling out breast cancer.[1] Fibrocystic change includes fibroadenomas, fibrosis, and papillomas of the breast.[1]
Management may involve education about the condition, a well fitting bra, and pain medication.[1] Occasionally danazol or tamoxifen may be used for pain.[1] It is estimated that up to 60% of women are affected.[3] Women between the ages of 30 and 50 are most commonly affected.[1]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Imaging
* 3.2 Biopsy
* 4 Treatment
* 5 Prognosis
* 5.1 Breast cancer risk
* 6 Epidemiology
* 7 Terminology
* 7.1 Eponyms
* 8 References
* 9 External links
## Signs and symptoms[edit]
The changes in fibrocystic breast disease are characterised by the appearance of fibrous tissue and a lumpy, cobblestone texture in the breasts. These lumps are smooth with defined edges, and are usually free-moving in regard to adjacent structures. The lumps can sometimes be obscured by irregularities in the breast that are associated with the condition. The lumps are most often found in the upper, outer sections of the breast (nearest to the armpit), but can be found throughout the breast. Women with fibrocystic changes may experience a persistent or intermittent breast aching or breast tenderness related to periodic swelling. Breasts and nipples may be tender or itchy.
Symptoms follow a periodic trend tied closely to the menstrual cycle. Symptoms tend to peak in the days and, in severe cases, weeks before each period and decrease afterwards. At peak, breasts may feel full, heavy, swollen, and tender to the touch. No complications related to breastfeeding have been found.
## Pathophysiology[edit]
Micrograph showing apocrine metaplasia associated with FCC. FNA specimen. Pap stain.
The exact mechanism of the condition is not fully understood, though it is known to be tied to hormone levels, as the condition usually subsides after menopause and is also related to the menstrual cycle. Post-menopausal women placed on hormone replacement therapy have also reported symptoms of fibrocystic breast change indicating hormones may play a role.
Fibrocystic breast changes is a cumulative process, caused partly by the normal hormonal variation during a woman's monthly cycle. The most important of these hormones are estrogen, progesterone and prolactin.
These hormones directly affect the breast tissues by causing cells to grow and multiply.[4] Many other hormones such as TSH, insulin, growth hormone and growth factors such as TGF-beta exert direct and indirect effects amplifying or regulating cell growth. Years of such fluctuations eventually produce small cysts and/or areas of dense or fibrotic tissue. Multiple small cysts and an increasing level of breast pain commonly develop when a woman hits her 30s. Larger cysts usually do not occur until after the age of 35.[5] Over time, presumably driven by aberrant growth signals, such lesions may accumulate epigenetic, genetic and karyotypic changes such as modified expression of hormone receptors and loss of heterozygosity.
Several variants of fibrocystic breast changes may be distinguished and these may have different causes and genetic predispositions. Adenosis involves abnormal count and density of lobular units, while other lesions appear to stem mainly from ductal epithelial origins.
There is preliminary evidence that iodine deficiency contributes to fibrocystic breast changes by enhancing the sensitivity of breast tissue to estrogen.[6][7][8][9]
## Diagnosis[edit]
Diagnosis is mostly done based on symptoms after exclusion of breast cancer. Nipple fluid aspiration can be used to classify cyst type (and to some extent improve breast cancer risk prediction) but it is rarely used in practice. Biopsy or fine needle aspiration are rarely warranted.[10]
Fibrocystic breast disease is primarily diagnosed based on the symptoms, clinical breast exam and on a physical exam. During this examination, the doctor checks for unusual areas in the breasts, both visually and manually. Also, the lymph nodes in the axilla area and lower neck are examined. A complete and accurate medical history is also helpful in diagnosing this condition. If the patient's medical history and physical exam findings are consistent with normal breast changes, no additional tests are considered but otherwise the patient will be asked to return a few weeks later for reassessment.[11] Women may detect lumps in their breasts during self-examination as well.
### Imaging[edit]
In order to establish whether the lump is a cyst or not, several imaging tests may be performed. Mammography is usually the first imaging test to be ordered when unusual breast changes have been detected during a physical examination. A diagnostic mammography consists in a series of X-rays that provide clear images of specific areas of the breast.
Ultrasounds and MRIs are commonly performed in conjunction with mammographies as they produce clear images of the breast and clearly distinguish between fluid-filled breast cysts and solid masses. The ultrasound and MRI exams can better evaluate dense tissue of the breast; hence it is often undergone by young patients, under 30 years old.
### Biopsy[edit]
The breast biopsy is usually the test used to confirm the suspected diagnosing. After imaging tests have been performed and have revealed unusual areas or lumps in the breast, a breast biopsy will be ordered. This test consists in removing a sample of breast tissue which is then looked at under a microscope. The specialist analyzing the tissue sample will be able to conclude if the breast changes are benign or malignant or whether breast fibrocystic disease is present.
There are four main types of breast biopsies that may be performed. A fine-needle aspiration biopsy is usually ordered when the doctor is almost certain that the lump is a cyst. This test is generally performed in conjunction with an ultrasound which is helpful in guiding the needle into a small or hard to find lump. The procedure is painless and it consists in inserting a thin needle into the breast tissue while the lump is palpated.
The core-needle biopsy is normally performed under local anesthesia and in a physician's office. The needle used in this procedure is slightly larger than the one used for a fine-needle biopsy because the procedure is intended to remove a small cylinder of tissue that will be sent to the laboratory for further examination.
A newer type of breast biopsy is the stereotactic biopsy that relies on a three-dimensional X-ray to guide the needle biopsy of non-palpable mass. The biopsy is performed in a similar manner, by using a needle to remove tissue sample but locating the specific area of the breast is done by X-raying the breast by two different angles. Surgical biopsy is a procedure performed to remove the entire lump or a part of it for laboratory analyzing. It may be painful and is done under local anesthesia.
## Treatment[edit]
Main article: Mastodynia § Treatments for cyclical breast pain
Most women with fibrocystic changes and no symptoms do not need treatment, but closer follow-up may be advised.[12]
There is no widely accepted treatment or prevention strategy for fibrocystic condition. When treatment of symptoms is necessary it follows the same strategies as treatment for cyclical breast pain.
It is controversial whether benign breast conditions improve or worsen with oral contraceptives or hormone replacement therapy.[13]
A few small-scale studies have indicated that the fibrocystic condition may be improved by dietary changes (especially by a reduced intake of caffeine and related methylxanthines or by a reduced intake of salt) and by vitamin supplements.[14]
Tentative evidence shown beneficial effects of iodine supplementation in women with fibrocystic breast changes.[6][15][16]
## Prognosis[edit]
There are usually no adverse side effects to this condition. In almost all cases it subsides after menopause. A possible complication arises through the fact that cancerous tumors may be more difficult to detect in women with fibrocystic changes.
### Breast cancer risk[edit]
Breast cancer risk is elevated for defined fraction of lesions. Except for people with a strong family history of breast cancer, where the risk is two-fold, nonproliferative lesions have no increased risk. Proliferative lesions also have approximately a 2-fold risk. In particular, atypical hyperplasia is associated with an increased risk of developing breast cancer.[17] Atypical lobular hyperplasia is associated with the greatest risk, approximately 5-fold and especially high relative risk of developing premenopausal breast cancer. Atypical ductal hyperplasia is associated with 2.4-fold risk.[18] In contrast, a New England Journal of Medicine article [19] states that for women with a strong familial history of breast cancer, the risk of future breast cancer is roughly doubled, independent of histological status. The article further states "The relative risk of breast cancer for the cohort was 1.56 (95 percent confidence interval, 1.45 to 1.68), and this increased risk persisted for at least 25 years after biopsy. The relative risk associated with atypia was 4.24 (95 percent confidence interval, 3.26 to 5.41), as compared with a relative risk of 1.88 (95 percent confidence interval, 1.66 to 2.12) for proliferative changes without atypia and of 1.27 (95 percent confidence interval, 1.15 to 1.41) for nonproliferative lesions. The strength of the family history of breast cancer, available for 4808 women, was a risk factor that was independent of histologic findings. No increased risk was found among women with no family history and nonproliferative findings. In the first 10 years after the initial biopsy, an excess of cancers occurred in the same breast, especially in women with atypia."
It is not well understood whether the lesions are precursors of breast cancer or only indication of increased risk, for most types of lesions the chance of developing breast cancer is nearly the same in the affected and unaffected breast (side) indicating only coincidence of risk factors. For atypical lobular hyperplasia there is high incidence of ipsilateral breast cancers indicating a possible direct carcinogenetic link.[20]
## Epidemiology[edit]
The estimated figures for the prevalence of fibrocystic breast changes in women over lifetime vary widely in the literature, with estimates ranging from about 30 to 60 %[21] over about 50 to 60 %[22] to about 60 to 75% of all women.[23]
The condition is most common among women between 30 and 50 years of age.[23]
## Terminology[edit]
In ICD-10 the condition is called diffuse cystic mastopathy, or, if there is epithelial proliferation, fibrosclerosis of breast.[24] Other names for this condition include chronic cystic mastitis, fibrocystic mastopathy and mammary dysplasia.[25] The condition has also been named after several people (see eponyms below). Since it is a very common disorder, some authors have argued that it should not be termed a "disease",[26] whereas others feel that it meets the criteria for a disease. It is not a classic form of mastitis (breast inflammation).[27]
### Eponyms[edit]
This entity has historically also been termed Bloodgood’s disease, Cooper's disease (after Sir Astley Paston Cooper, 1st baronet), Phocas' disease, Reclus’ disease and Reclus’ syndrome (after Paul Reclus), Reclus-Schimmelbusch disease, Schimmelbusch disease and Tillaux-Phocas disease.[28]
## References[edit]
1. ^ a b c d e f g h i j k l m Ferri, Fred F. (2018). Ferri's Clinical Advisor 2019: 5 Books in 1. Elsevier Health Sciences. p. 548. ISBN 9780323550765.
2. ^ a b c d "Breast Masses (Breast Lumps)". Merck Manuals Professional Edition. Retrieved 3 November 2018.
3. ^ a b c d Santen, RJ; Mansel, R (21 July 2005). "Benign breast disorders". The New England Journal of Medicine. 353 (3): 275–85. doi:10.1056/NEJMra035692. PMID 16034013.
4. ^ "Fibrocystic Breast Condition".2010/04/13, MedicineNet.com
5. ^ "Fibrocystic Breast Condition".2010/04/13
6. ^ a b Cann, Stephen A.; van Netten, Johannes P.; van Netten, Christiaan (2000). "Hypothesis: iodine, selenium and the development of breast cancer". Cancer Causes and Control (review). 11 (2): 121–127. doi:10.1023/A:1008925301459. ISSN 0957-5243. PMID 10710195. S2CID 2665461.
7. ^ Joseph E. Pizzorno; Michael T. Murray (14 September 2012). Textbook of Natural Medicine. Elsevier Health Sciences. p. 1371. ISBN 978-1-4377-2333-5.
8. ^ Venturi, S. (2001). "Is there a role for iodine in breast diseases?". The Breast. 10 (5): 379–382. doi:10.1054/brst.2000.0267. PMID 14965610.
9. ^ Aceves, C.; Anguiano, B.; Delgado, G. (2005). "Is iodine a gatekeeper of the integrity of the mammary gland?". Journal of Mammary Gland Biology and Neoplasia. 10 (2): 189–196. doi:10.1007/s10911-005-5401-5. PMID 16025225. S2CID 16838840.
10. ^ Vaidyanathan, L.; Barnard, K.; Elnicki, D M. (May 2002). "Benign Breast Disease: When To Treat, When To Reassure, When To Refer". Cleveland Clinic Journal of Medicine. 69 (5): 424–439. doi:10.3949/ccjm.69.5.425. PMID 12022387.
11. ^ "Tests and diagnosis". Archived from the original on 2010-03-22.2010/04/13
12. ^ "Types of non-cancerous breast conditions".2010/04/13
13. ^ Gadducci A, Guerrieri ME, Genazzani AR (February 2012). "Benign breast diseases, contraception and hormone replacement therapy". Minerva Ginecologica. 64 (1): 67–74. PMID 22334232.
14. ^ Ethel Sloane, Biology of Women, Cengage Learning, 2002, p. 200-201
15. ^ "Iodine: Fact Sheet for Health Professionals". NIH. Retrieved 2015-02-07.
16. ^ Kessler JH (2004). "The effect of supraphysiologic levels of iodine on patients with cyclic mastalgia". The Breast Journal (Randomized Controlled Trial). 10 (4): 328–36. doi:10.1111/j.1075-122X.2004.21341.x. PMID 15239792. S2CID 2685253.
17. ^ Ethel Sloane, Biology of Women, Cengage Learning, 2002, p. 200
18. ^ Marshall, LM; Hunter, DJ; Connolly, JL; Schnitt, SJ; Byrne, C; London, SJ; Colditz, GA (1997). "Risk of breast cancer associated with atypical hyperplasia of lobular and ductal types". Cancer Epidemiology, Biomarkers & Prevention. 6 (5): 297–301. PMID 9149887.
19. ^ Hartmann, L. C.; Sellers, T. A.; Frost, M. H.; Lingle, W. L.; Degnim, A. C.; Ghosh, K; Vierkant, R. A.; Maloney, S. D.; Pankratz, V. S.; Hillman, D. W.; Suman, V. J.; Johnson, J; Blake, C; Tlsty, T; Vachon, C. M.; Melton Lj, 3rd; Visscher, D. W. (2005). "Benign breast disease and the risk of breast cancer". New England Journal of Medicine. 353 (3): 229–37. doi:10.1056/NEJMoa044383. PMID 16034008.
20. ^ Page, D. L.; Schuyler, P. A.; Dupont, W. D.; Jensen, R. A.; Plummer Jr, W. D.; Simpson, J. F. (2003). "Atypical lobular hyperplasia as a unilateral predictor of breast cancer risk: a retrospective cohort study". The Lancet. 361 (9352): 125–9. doi:10.1016/S0140-6736(03)12230-1. PMID 12531579. S2CID 6429291.
21. ^ Susan L. Norwoord (March 1990). "Fibrocystic Breast Disease An Update and Review". JOGNN – Journal of Obstetric Gynecologic, & Neonatal Nursing. 19 (2): 116–121. doi:10.1111/j.1552-6909.1990.tb01629.x. PMID 2181087.
22. ^ Kelly A. McGarry; Iris L. Tong (6 July 2012). The 5-Minute Consult Clinical Companion to Women's Health. Lippincott Williams & Wilkins. p. 86. ISBN 978-1-4511-1654-0.
23. ^ a b Roger P. Smith (1 December 2008). Netter's Obstetrics and Gynecology. Elsevier Health Sciences. p. 371. ISBN 978-1-4377-2137-9.
24. ^ Disorders of breast (N60-N64) in ICD-10.
25. ^ Atlantic Women’s Specialists. "Fibrocystic Breast Changes". Retrieved 21 June 2012.
26. ^ Santen RJ, Mansel R (July 2005). "Benign breast disorders". N. Engl. J. Med. 353 (3): 275–85. doi:10.1056/NEJMra035692. PMID 16034013.
27. ^ Gokhale, Sudheer (August 2009). "Ultrasound Characterization of Breast Masses". Indian Journal of Radiology and Imaging. 19 (3): 242–247. doi:10.4103/0971-3026.54878. PMC 2766883. PMID 19881096.
28. ^ synd/1891 at Who Named It?
## External links[edit]
Classification
D
* ICD-10: N60.1
* ICD-9-CM: 610.1
* MeSH: D005348
* DiseasesDB: 4799
External resources
* MedlinePlus: 000912
* v
* t
* e
Breast disease
Inflammation
* Mastitis
* Nonpuerperal mastitis
* Subareolar abscess
* Granulomatous mastitis
Physiological changes
and conditions
* Benign mammary dysplasia
* Duct ectasia of breast
* Chronic cystic mastitis
* Mammoplasia
* Gynecomastia
* Adipomastia (lipomastia, pseudogynecomastia)
* Breast hypertrophy
* Breast atrophy
* Micromastia
* Amastia
* Anisomastia
* Breast engorgement
Nipple
* Nipple discharge
* Galactorrhea
* Inverted nipple
* Cracked nipples
* Nipple pigmentation
Masses
* Galactocele
* Breast cyst
* Breast hematoma
* Breast lump
* Pseudoangiomatous stromal hyperplasia
Other
* Pain
* Tension
* Ptosis
* Fat necrosis
* Amazia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Fibrocystic breast changes
|
c0016034
| 28,134 |
wikipedia
|
https://en.wikipedia.org/wiki/Fibrocystic_breast_changes
| 2021-01-18T18:37:04 |
{"mesh": ["D005348"], "umls": ["C0016034"], "wikidata": ["Q1423177"]}
|
Aarskog–Scott syndrome / Aarskog Syndrome
Other namesFaciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome[1]
SpecialtyMedical genetics
SymptomsBroad hands and feet, wide set eyes, low set ears, drooping lower lip[1]
CausesGenetic (X-linked recessive)[1]
Deaths2018, two deaths one patient aged 66 years, another aged 62 also diagnosed with Non-Hodgkin lymphoma 2019 one death aged 54. All males from the same family.
Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.[2] This condition mainly affects males, although females may have mild features of the syndrome.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 History
* 8 References
* 9 External links
## Signs and symptoms[edit]
People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog–Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).[3]
Most males with Aarskog–Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).[3]
The intellectual development of people with Aarskog–Scott syndrome varies widely. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.[3]
## Genetics[edit]
X-linked recessive inheritance.
Mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of development before and after birth.[3]
Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, leading to the wide variety of abnormalities that occur in people with Aarskog-Scott syndrome.[3]
Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.[3]
## Pathophysiology[edit]
The Aarskog–Scott syndrome is due to mutation in the FGD1 gene. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates Cdc42, a member of the Rho (Ras homology) family of the p21 GTPases. By activating Cdc42, FGD1 protein stimulates fibroblasts to form filopodia, cytoskeletal elements involved in cellular signaling, adhesion, and migration. Through Cdc42, FGD1 protein also activates the c-Jun N-terminal kinase (JNK) signaling cascade, a pathway that regulates cell growth, apoptosis, and cellular differentiation.[citation needed]
Within the developing mouse skeleton, FGD1 protein is expressed in precartilaginous mesenchymal condensations, the perichondrium and periosteum, proliferating chondrocytes, and osteoblasts. These results suggest that FGD1 signaling may play a role in the biology of several different skeletal cell types including mesenchymal prechondrocytes, chondrocytes, and osteoblasts. The characterization of the spatiotemporal pattern of FGD1 expression in mouse embryos has provided important clues to the understanding of the pathogenesis of Aarskog–Scott syndrome.[citation needed]
It appears likely that the primary defect in Aarskog–Scott syndrome is an abnormality of FGD1/Cdc42 signaling resulting in anomalous embryonic development and abnormal endochondral and intramembranous bone formation.[citation needed]
## Diagnosis[edit]
Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition, as there are overlapping features with fetal alcohol syndrome.[5][4]
Other examinations or tests can help with diagnosis. These can include:
detailed family history
* conducting a detailed physical examination to document morphological features
* testing for genetic defect in FGDY1
* x-rays can identify skeletal abnormalities
* echo cardiogram can screen for heart abnormalities
* CT scan of the brain for cystic development
* X-ray of the teeth
* Ultrasound of abdomen to identify undescended testis[6]
## Treatment[edit]
Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.[6]
Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have been effective to treat short stature in this disorder.[7]
## Prognosis[edit]
Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.[4]
## History[edit]
The syndrome is named for Dagfinn Aarskog, a Norwegian pediatrician and human geneticist who first described it in 1970,[8] and for Charles I. Scott, Jr., an American medical geneticist who independently described the syndrome in 1971.[9]
## References[edit]
1. ^ a b c "Aarskog syndrome". rarediseases.info.nih.gov. Retrieved 15 May 2018.
2. ^ "Aarskog-Scott syndrome". Genetics Home Reference. Retrieved 2018-03-06.
3. ^ a b c d e f g National Institutes of Health, Genetics Home Reference, Genetics Home. "Aarskog-Scott syndrome". Genetics Home Reference. Retrieved 2017-11-09. This article incorporates text from this source, which is in the public domain.
4. ^ a b c "Aarskog syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2017-11-09. This article incorporates text from this source, which is in the public domain.
5. ^ "Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis" (PDF). Centers for Disease Control and Prevention. 2004.
6. ^ a b "Aarskog Syndrome (AAS)". DoveMed. 2014. Retrieved 18 June 2014.
7. ^ Darendeliler F.; Larsson P.; Neyzi O.; et al. (October–November 2003). "Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data". J. Pediatr. Endocrinol. Metab. 16 (8): 1137–42. doi:10.1515/jpem.2003.16.8.1137. PMID 14594174.
8. ^ Aarskog D. (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J. Pediatr. 77 (5): 856–61. doi:10.1016/S0022-3476(70)80247-5. PMID 5504078.
9. ^ Scott CI (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig. Artic. Ser. 7 (6): 240–6. PMID 5173168.
* Jones, Kenneth Lyons (2005). Smith's Recognizable Patterns of Human Malformation (6th ed.). Philadelphia: WB Saunders. ISBN 978-0-7216-2359-7.
* Orrico A.; Galli L.; Cavaliere ML.; et al. (2004). "Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients". Eur. J. Hum. Genet. 12 (1): 16–23. doi:10.1038/sj.ejhg.5201081. PMID 14560308.
## External links[edit]
* Aarskog–Scott syndrome, detailed up-to-date information in OMIM (Online Mendelian Inheritance in Man)
* Aarskog's syndrome at Who Named It?
* The Aarskog Foundation
Classification
D
* ICD-10: Q87.1
* ICD-9-CM: 759.89
* OMIM: 100050
* MeSH: C535331
* DiseasesDB: 29329
External resources
* MedlinePlus: 001654
* Orphanet: 915
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome
Short stature
* 1q21.1 deletion syndrome
* Aarskog–Scott syndrome
* Cockayne syndrome
* Cornelia de Lange syndrome
* Dubowitz syndrome
* Noonan syndrome
* Robinow syndrome
* Silver–Russell syndrome
* Seckel syndrome
* Smith–Lemli–Opitz syndrome
* Snyder–Robinson syndrome
* Turner syndrome
Limbs
* Adducted thumb syndrome
* Holt–Oram syndrome
* Klippel–Trénaunay–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
* Caudal regression syndrome
* Ectromelia
* Sirenomelia
* VACTERL association
Overgrowth syndromes
* Beckwith–Wiedemann syndrome
* Proteus syndrome
* Perlman syndrome
* Sotos syndrome
* Weaver syndrome
* Klippel–Trénaunay–Weber syndrome
* Benign symmetric lipomatosis
* Bannayan–Riley–Ruvalcaba syndrome
* Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl
* Bardet–Biedl syndrome
* Laurence–Moon syndrome
Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Aarskog–Scott syndrome
|
c0175701
| 28,135 |
wikipedia
|
https://en.wikipedia.org/wiki/Aarskog%E2%80%93Scott_syndrome
| 2021-01-18T18:38:10 |
{"gard": ["4775"], "mesh": ["C535331"], "umls": ["C0175701"], "icd-9": ["759.89"], "orphanet": ["915"], "wikidata": ["Q303123"]}
|
Condition where a person has a frequent need to urinate
Overactive bladder
Other namesOveractive bladder syndrome
SpecialtyUrology
SymptomsFrequent feeling of needing to urinate, incontinence[1][2]
Usual onsetMore common with age[3]
DurationOften years[3]
CausesUnknown[3]
Risk factorsObesity, caffeine, constipation[2]
Diagnostic methodBased on symptoms after ruling out other possible causes[1][3]
Differential diagnosisUrinary tract infections, neurological conditions[1][3]
TreatmentPelvic floor exercises, bladder training, drinking moderate fluids, weight loss[4]
PrognosisNot life-threatening[3]
Frequency~15% men, 25% women[3]
Overactive bladder (OAB) is a condition where there is a frequent feeling of needing to urinate to a degree that it negatively affects a person's life.[1] The frequent need to urinate may occur during the day, at night, or both.[5] If there is loss of bladder control then it is known as urge incontinence.[3] More than 40% of people with overactive bladder have incontinence.[2] Conversely, about 40% to 70% of urinary incontinence is due to overactive bladder.[6] Overactive bladder is not life-threatening,[3] but most people with the condition have problems for years.[3]
The cause of overactive bladder is unknown.[3] Risk factors include obesity, caffeine, and constipation.[2] Poorly controlled diabetes, poor functional mobility, and chronic pelvic pain may worsen the symptoms.[3] People often have the symptoms for a long time before seeking treatment and the condition is sometimes identified by caregivers.[3] Diagnosis is based on a person's signs and symptoms and requires other problems such as urinary tract infections or neurological conditions to be excluded.[1][3] The amount of urine passed during each urination is relatively small.[3] Pain while urinating suggests that there is a problem other than overactive bladder.[3]
Specific treatment is not always required.[3] If treatment is desired pelvic floor exercises, bladder training, and other behavioral methods are initially recommended.[4] Weight loss in those who are overweight, decreasing caffeine consumption, and drinking moderate fluids, can also have benefits.[4] Medications, typically of the anti-muscarinic type, are only recommended if other measures are not effective.[4] They are no more effective than behavioral methods; however, they are associated with side effects, particularly in older people.[4][7] Some non-invasive electrical stimulation methods appear effective while they are in use.[8] Injections of botulinum toxin into the bladder is another option.[4] Urinary catheters or surgery are generally not recommended.[4] A diary to track problems can help determine whether treatments are working.[4]
Overactive bladder is estimated to occur in 7-27% of men and 9-43% of women.[3] It becomes more common with age.[3] Some studies suggest that the condition is more common in women, especially when associated with loss of bladder control.[3] Economic costs of overactive bladder were estimated in the United States at US$12.6 billion and 4.2 billion Euro in 2000.[9]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Catheter-related irritation
* 3 Diagnosis
* 3.1 Classification
* 4 Management
* 4.1 Lifestyle
* 4.2 Medications
* 4.3 Procedures
* 5 Prognosis
* 6 Epidemiology
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Overactive bladder is characterized by a group of four symptoms: urgency, urinary frequency, nocturia, and urge incontinence. Urge incontinence is not present in the "dry" classification.
Urgency is considered the hallmark symptom of OAB, but there are no clear criteria for what constitutes urgency and studies often use other criteria.[3] Urgency is currently defined by the International Continence Society (ICS), as of 2002, as "Sudden, compelling desire to pass urine that is difficult to defer." The previous definition was "Strong desire to void accompanied by fear of leakage or pain."[10] The definition does not address the immediacy of the urge to void and has been criticized as subjective.[10]
Urinary frequency is considered abnormal if the person urinates more than eight times in a day. This frequency is usually monitored by having the person keep a voiding diary where they record urination episodes.[3] The number of episodes varies depending on sleep, fluid intake, medications, and up to seven is considered normal if consistent with the other factors.
Nocturia is a symptom where the person complains of interrupted sleep because of an urge to void and, like the urinary frequency component, is affected by similar lifestyle and medical factors. Individual waking events are not considered abnormal, one study in Finland established two or more voids per night as affecting quality of life.[11]
Urge incontinence is a form of urinary incontinence characterized by the involuntary loss of urine occurring for no apparent reason while feeling urinary urgency as discussed above. Like frequency, the person can track incontinence in a diary to assist with diagnosis and management of symptoms. Urge incontinence can also be measured with pad tests, and these are often used for research purposes. Some people with urge incontinence also have stress incontinence and this can complicate clinical studies.[3]
It is important that the clinician and the person with overactive bladder both reach a consensus on the term, 'urgency.' Some common phrases used to describe OAB include, 'When I've got to go, I've got to go,' or 'When I have to go, I have to rush, because I think I will wet myself.' Hence the term, 'fear of leakage,' is an important concept to people.[12]
## Causes[edit]
The cause of OAB is unclear, and indeed there may be multiple causes.[13] It is often associated with overactivity of the detrusor urinae muscle, a pattern of bladder muscle contraction observed during urodynamics.[14] It is also possible that the increased contractile nature originates from within the urothelium and lamina propria, and abnormal contractions in this tissue could stimulate dysfunction in the detrusor or whole bladder.[15]
### Catheter-related irritation[edit]
If bladder spasms occur or there is no urine in the drainage bag when a catheter is in place, the catheter may be blocked by blood, thick sediment, or a kink in the catheter or drainage tubing. Sometimes spasms are caused by the catheter irritating the bladder, prostate or penis. Such spasms can be controlled with medication such as butylscopolamine, although most people eventually adjust to the irritation and the spasms go away.[16]
## Diagnosis[edit]
Diagnosis of OAB is made primarily on the person's signs and symptoms and by ruling out other possible causes such as an infection.[3] Urodynamics, a bladder scope, and ultrasound are generally not needed.[3][17] Additionally, urine culture may be done to rule out infection. The frequency/volume chart may be maintained and cystourethroscopy may be done to exclude tumor and kidney stones. If there is an underlying metabolic or pathologic condition that explains the symptoms, the symptoms may be considered part of that disease and not OAB.
Psychometrically robust self-completion questionnaires are generally recognized as a valid way of measuring a person's signs and symptoms, but there does not exist a single ideal questionnaire.[18] These surveys can be divided into two groups: general surveys of lower urinary tract symptoms and surveys specific to overactive bladder. General questionnaires include: American Urological Association Symptom Index (AUASI), Urogenital Distress Inventory (UDI),[19] Incontinence Impact Questionnaire (IIQ),[19] and Bristol Female Lower Urinary Tract Symptoms (BFLUTS). Overactive bladder questionnaires include: Overactive Bladder Questionnaire (OAB-q),[20] Urgency Questionnaire (UQ), Primary OAB Symptom Questionnaire (POSQ), and the International Consultation on Incontinence Questionnaire (ICIQ).
OAB causes similar symptoms to some other conditions such as urinary tract infection (UTI), bladder cancer, and benign prostatic hyperplasia (BPH). Urinary tract infections often involve pain and hematuria (blood in the urine) which are typically absent in OAB. Bladder cancer usually includes hematuria and can include pain, both not associated with OAB, and the common symptoms of OAB (urgency, frequency, and nocturia) may be absent. BPH frequently includes symptoms at the time of voiding as well as sometimes including pain or hematuria, and all of these are not usually present in OAB.[10] Diabetes insipidus, which causes high frequency and volume, though not necessarily urgency.
### Classification[edit]
There is some controversy about the classification and diagnosis of OAB.[3][21] Some sources classify overactive bladder into two different variants: "wet" (i.e., an urgent need to urinate with involuntary leakage) or "dry" (i.e., an urgent need to urinate but no involuntary leakage). Wet variants are more common than dry variants.[22] The distinction is not absolute; one study suggested that many classified as "dry" were actually "wet" and that people with no history of any leakage may have had other syndromes.[23]
OAB is distinct from stress urinary incontinence, but when they occur together, the condition is usually known as mixed incontinence.
## Management[edit]
Main article: Treatments for overactive bladder
A recent (2019) systematic review of studies related to urinary incontinence in women found that behavioral therapy, alone or combined with other treatments, is generally more effective than any other single treatment alone.[24]
### Lifestyle[edit]
Treatment for OAB includes nonpharmacologic methods such as lifestyle modification (fluid restriction, avoidance of caffeine), bladder retraining, and pelvic floor muscle (PFM) exercise.
Timed voiding is a form of bladder training that uses biofeedback to reduce the frequency of accidents resulting from poor bladder control. This method is aimed at improving the person's control over the time, place and frequency of urination.
Timed voiding programs involve establishing a schedule for urination. To do this, a person fills in a chart of voiding and leaking. From the patterns that appear in the chart, the person can plan to empty his or her bladder before he or she would otherwise leak. Some individuals find it helpful to use a vibrating reminder watch to help them remember to use the bathroom. Vibrating watches can be set to go off at certain intervals or at specific times throughout the day, depending on the watch.[25] Through this bladder training exercise, the person can alter their bladder's schedule for storing and emptying urine.[26]
### Medications[edit]
A number of antimuscarinic drugs (e.g., darifenacin, hyoscyamine, oxybutynin, tolterodine, solifenacin, trospium, fesoterodine) are frequently used to treat overactive bladder.[14] Long term use, however, has been linked to dementia.[27] β3 adrenergic receptor agonists (e.g., mirabegron, vibegron),[28] may be used, as well. However, both antimuscarinic drugs and β3 adrenergic receptor agonists constitute a second line treatment due to the risk of side effects.[3]
Few people get complete relief with medications and all medications are no more than moderately effective.[29]
A typical person with overactive bladder may urinate 12 times per day.[29] Medication may reduce this number by 2-3 and reduce urinary incontinence events by 1-2 per day.[29]
### Procedures[edit]
Various devices (Urgent PC Neuromodulation System) may also be used. Botulinum toxin A (Botox) is approved by the Food and Drug Administration in adults with neurological conditions, including multiple sclerosis and spinal cord injury.[30] Botulinum Toxin A injections into the bladder wall can suppress involuntary bladder contractions by blocking nerve signals and may be effective for up to 9 months.[31][32] The growing knowledge of pathophysiology of overactive bladder fuelled a huge amount of basic and clinical research in this field of pharmacotherapy.[33][34][35] A surgical intervention involves the enlargement of the bladder using bowel tissues, although generally used as a last resort. This procedure can greatly enlarge urine volume in the bladder.
OAB may be treated with electrical stimulation, which aims to reduce the contractions of the muscle that tenses around the bladder and causes urine to pass out of it. There are invasive and non-invasive electrical stimulation options. Non-invasive options include the introduction of a probe into the vagina or anus, or the insertion of an electrical probe into a nerve near the ankle with a fine needle. These non-invasive options appear to reduce symptoms while they are in use, and are better than no treatment, or treatment with drugs, or pelvic floor muscle treatment, but the quality of evidence is low. It is unknown which electrical stimulation option works best. Also, it is unknown whether the benefits last after treatment stops.[8]
## Prognosis[edit]
Many people with OAB symptoms had those symptoms subside within a year, with estimates as high as 39%, but most have symptoms for several years.[3]
## Epidemiology[edit]
Earlier reports estimated that about one in six adults in the United States and Europe had OAB.[36][37] The number of people affected with OAB increases with age,[36][37] thus it is expected that OAB will become more common in the future as the average age of people living in the developed world is increasing. However, a recent Finnish population-based survey[38] suggested that the number of people affected had been largely overestimated due to methodological shortcomings regarding age distribution and low participation (in earlier reports). It is suspected, then, that OAB affects approximately half the number of individuals as earlier reported.[38]
The American Urological Association reports studies showing rates as low as 7% to as high as 27% in men and rates as low as 9% to 43% in women.[3] Urge incontinence was reported as higher in women.[3] Older people are more likely to be affected, and the number of symptoms increases with age.[3]
## See also[edit]
* National Association For Continence
* Underactive bladder
## References[edit]
1. ^ a b c d e Gormley EA, Lightner DJ, Faraday M, Vasavada SP (May 2015). "Diagnosis and treatment of overactive bladder (non-neurogenic) in adults: AUA/SUFU guideline amendment". The Journal of Urology. 193 (5): 1572–80. doi:10.1016/j.juro.2015.01.087. PMID 25623739.
2. ^ a b c d Gibbs, Ronald S. (2008). Danforth's obstetrics and gynecology (10 ed.). Philadelphia: Lippincott Williams & Wilkins. pp. 890–891. ISBN 9780781769372. Archived from the original on 2016-03-05.
3. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae American Urological Association (2014). "Diagnosis and Treatment of Overactive Bladder (Non-Neurogenic) in Adults: AUA/SUFU Guideline" (PDF). Archived from the original (PDF) on 26 April 2015. Retrieved 1 June 2015.
4. ^ a b c d e f g h Gormley EA, Lightner DJ, Burgio KL, Chai TC, Clemens JQ, Culkin DJ, Das AK, Foster HE, Scarpero HM, Tessier CD, Vasavada SP (December 2012). "Diagnosis and treatment of overactive bladder (non-neurogenic) in adults: AUA/SUFU guideline". The Journal of Urology. 188 (6 Suppl): 2455–63. doi:10.1016/j.juro.2012.09.079. PMID 23098785.
5. ^ "Urinary Bladder, Overactive". Retrieved 1 June 2015.
6. ^ Ghosh, Amit K. (2008). Mayo Clinic internal medicine concise textbook. Rochester, MN: Mayo Clinic Scientific Press. p. 339. ISBN 9781420067514. Archived from the original on 2016-03-05.
7. ^ Ruxton K, Woodman RJ, Mangoni AA (August 2015). "Drugs with anticholinergic effects and cognitive impairment, falls and all-cause mortality in older adults: A systematic review and meta-analysis". British Journal of Clinical Pharmacology. 80 (2): 209–20. doi:10.1111/bcp.12617. PMC 4541969. PMID 25735839.
8. ^ a b Stewart F, Gameiro LF, El Dib R, Gameiro MO, Kapoor A, Amaro JL (December 2016). "Electrical stimulation with non-implanted electrodes for overactive bladder in adults". The Cochrane Database of Systematic Reviews. 12: CD010098. doi:10.1002/14651858.CD010098.pub4. hdl:2164/8446. PMC 6463833. PMID 27935011.
9. ^ Abrams, Paul (2011). Overactive bladder syndrome and urinary incontinence. Oxford: Oxford University Press. pp. 7–8. ISBN 9780199599394. Archived from the original on 2016-03-05.
10. ^ a b c Wein A (October 2011). "Symptom-based diagnosis of overactive bladder: an overview". Canadian Urological Association Journal. 5 (5 Suppl 2): S135–6. doi:10.5489/cuaj.11183. PMC 3193392. PMID 21989525.
11. ^ Tikkinen KA, Johnson TM, Tammela TL, Sintonen H, Haukka J, Huhtala H, Auvinen A (March 2010). "Nocturia frequency, bother, and quality of life: how often is too often? A population-based study in Finland". European Urology. 57 (3): 488–96. doi:10.1016/j.eururo.2009.03.080. PMID 19361907.
12. ^ Campbell-Walsh Urology, Tenth Edition, Chapter 66, Page 1948
13. ^ Sacco E (2012). "[Physiopathology of overactive bladder syndrome]". Urologia. 79 (1): 24–35. doi:10.5301/RU.2012.8972. PMID 22287269. S2CID 39170650.
14. ^ a b Sussman DO (September 2007). "Overactive bladder: treatment options in primary care medicine". The Journal of the American Osteopathic Association. 107 (9): 379–85. PMID 17908830.
15. ^ Moro C, Uchiyama J, Chess-Williams R (December 2011). "Urothelial/lamina propria spontaneous activity and the role of M3 muscarinic receptors in mediating rate responses to stretch and carbachol". Urology. 78 (6): 1442.e9–15. doi:10.1016/j.urology.2011.08.039. PMID 22001099.
16. ^ "Urinary catheters". MedlinePlus, the National Institutes of Health's Web site. 2010-03-09. Archived from the original on 2010-12-04. Retrieved 2010-12-01.
17. ^ American Urogynecologic Society (May 5, 2015), "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Urogynecologic Society, archived from the original on June 2, 2015, retrieved June 1, 2015
18. ^ Shy M, Fletcher SG (March 2013). "Objective Evaluation of Overactive Bladder: Which Surveys Should I Use?". Current Bladder Dysfunction Reports. 8 (1): 45–50. doi:10.1007/s11884-012-0167-2. PMC 3579666. PMID 23439804.
19. ^ a b Shumaker SA, Wyman JF, Uebersax JS, McClish D, Fantl JA (October 1994). "Health-related quality of life measures for women with urinary incontinence: the Incontinence Impact Questionnaire and the Urogenital Distress Inventory. Continence Program in Women (CPW) Research Group". Quality of Life Research. 3 (5): 291–306. doi:10.1007/bf00451721. PMID 7841963. S2CID 22892631.
20. ^ Coyne K, Schmier J, Hunt T, Corey R, Liberman J, Revicki D (March 2000). "PRN6: developing a specific HRQL instrument for overactive bladder". Value in Health. 3 (2): 141. doi:10.1016/s1098-3015(11)70554-x.
21. ^ Homma Y (January 2008). "Lower urinary tract symptomatology: Its definition and confusion". International Journal of Urology. 15 (1): 35–43. doi:10.1111/j.1442-2042.2007.01907.x. PMID 18184169. S2CID 35527427.
22. ^ "Overactive Bladder". Cornell University Weill Cornell Medical College Department of Urology. Archived from the original on 21 September 2013. Retrieved 25 Aug 2013.
23. ^ Anger JT, Le TX, Nissim HA, Rogo-Gupta L, Rashid R, Behniwal A, Smith AL, Litwin MS, Rodriguez LV, Wein AJ, Maliski SL (November 2012). "How dry is "OAB-dry"? Perspectives from patients and physician experts". The Journal of Urology. 188 (5): 1811–5. doi:10.1016/j.juro.2012.07.044. PMC 3571660. PMID 22999694.
24. ^ Balk, Ethan M.; Rofeberg, Valerie N.; Adam, Gaelen P.; Kimmel, Hannah J.; Trikalinos, Thomas A.; Jeppson, Peter C. (2019). "Pharmacologic and Nonpharmacologic Treatments for Urinary Incontinence in Women: A Systematic Review and Network Meta-analysis of Clinical Outcomes". Annals of Internal Medicine. 170 (7): 465–480. doi:10.7326/M18-3227. ISSN 0003-4819. PMID 30884526. S2CID 83458685.
25. ^ Pham, Nancy. "Get Control Over Your Bladder with a Vibrating Reminder". National Incontinence. Archived from the original on 14 October 2012. Retrieved 10 October 2012.
26. ^ Mercer, Renee. "Strategies to Control Incontinence". National Incontinence. Archived from the original on 14 October 2012. Retrieved 28 September 2012.
27. ^ Araklitis G, Cardozo L (November 2017). "Safety issues associated with using medication to treat overactive bladder". Expert Opinion on Drug Safety. 16 (11): 1273–1280. doi:10.1080/14740338.2017.1376646. PMID 28889761. S2CID 10862256.
28. ^ Sacco E, Bientinesi R (December 2012). "Mirabegron: a review of recent data and its prospects in the management of overactive bladder". Therapeutic Advances in Urology. 4 (6): 315–24. doi:10.1177/1756287212457114. PMC 3491758. PMID 23205058.
29. ^ a b c Consumer Reports Health Best Buy Drugs (June 2010). "Evaluating Prescription Drugs to Treat: Overactive Bladder - Comparing Effectiveness, Safety, and Price". Best Buy Drugs: 10. Archived from the original on September 21, 2013. Retrieved September 18, 2012., which cites "Overactive Bladder Drugs". Drug Effectiveness Review Project. Oregon Health & Science University. Archived from the original on 23 April 2011. Retrieved 18 September 2013.
30. ^ "FDA approves Botox for loss of bladder control". Reuters. 24 August 2008. Archived from the original on 24 September 2015.
31. ^ Chancellor, Michael B; Christopher Smith (August 2011). Botulinum Toxin in Urology. Springer. ISBN 978-3-642-03579-1.
32. ^ Sacco E, Paolillo M, Totaro A, Pinto F, Volpe A, Gardi M, Bassi PF (2008). "Botulinum toxin in the treatment of overactive bladder". Urologia. 75 (1): 4–13. doi:10.1177/039156030807500102. PMID 21086369. S2CID 208149855.
33. ^ Sacco E, Bientinesi R (2012). "Future perspectives in pharmacological treatments options for overactive bladder syndrome". Eur Urol Review. 7 (2): 120–126.
34. ^ Sacco E, Pinto F, Bassi P (April 2008). "Emerging pharmacological targets in overactive bladder therapy: experimental and clinical evidences". International Urogynecology Journal and Pelvic Floor Dysfunction. 19 (4): 583–98. doi:10.1007/s00192-007-0529-z. PMID 18196198. S2CID 23846583.
35. ^ Sacco E, et al. (2009). "Investigational drug therapies for overactive bladder syndrome: the potential alternatives to anticholinergics". Urologia. 76 (3): 161–177. doi:10.1177/039156030907600301. PMID 21086288. S2CID 208148685.
36. ^ a b Stewart WF, Van Rooyen JB, Cundiff GW, Abrams P, Herzog AR, Corey R, Hunt TL, Wein AJ (May 2003). "Prevalence and burden of overactive bladder in the United States". World Journal of Urology. 20 (6): 327–36. doi:10.1007/s00345-002-0301-4. hdl:2027.42/42170. PMID 12811491. S2CID 15994916.
37. ^ a b Milsom I, Abrams P, Cardozo L, Roberts RG, Thüroff J, Wein AJ (June 2001). "How widespread are the symptoms of an overactive bladder and how are they managed? A population-based prevalence study". BJU International. 87 (9): 760–6. doi:10.1046/j.1464-410x.2001.02228.x. PMID 11412210. S2CID 23650548.
38. ^ a b Tikkinen KA, Tammela TL, Rissanen AM, Valpas A, Huhtala H, Auvinen A (February 2007). Madersbacher S (ed.). "Is the prevalence of overactive bladder overestimated? A population-based study in Finland". PLOS ONE. 2 (2): e195. Bibcode:2007PLoSO...2..195T. doi:10.1371/journal.pone.0000195. PMC 1805814. PMID 17332843.
## External links[edit]
Classification
D
* ICD-10: N32.8, N39.4
* ICD-10-CM: N32.81
* ICD-9-CM: 596.51, 788.31
* MeSH: D053201
* DiseasesDB: 3612
* SNOMED CT: 236633002
External resources
* MedlinePlus: 001270
* eMedicine: article/459340
* Sacco E, Bientinesi R, Marangi F, D'Addessi A, Racioppi M, Gulino G, Pinto F, Totaro A, Bassi P (2011). "[Overactive bladder syndrome: the social and economic perspective]". Urologia (in Italian). 78 (4): 241–56. doi:10.5301/RU.2011.8886. PMID 22237808. S2CID 36693916.
* "Overactive Bladder". MedlinePlus. U.S. National Library of Medicine.
* v
* t
* e
Diseases of the urinary tract
Ureter
* Ureteritis
* Ureterocele
* Megaureter
Bladder
* Cystitis
* Interstitial cystitis
* Hunner's ulcer
* Trigonitis
* Hemorrhagic cystitis
* Neurogenic bladder dysfunction
* Bladder sphincter dyssynergia
* Vesicointestinal fistula
* Vesicoureteral reflux
Urethra
* Urethritis
* Non-gonococcal urethritis
* Urethral syndrome
* Urethral stricture
* Meatal stenosis
* Urethral caruncle
Any/all
* Obstructive uropathy
* Urinary tract infection
* Retroperitoneal fibrosis
* Urolithiasis
* Bladder stone
* Kidney stone
* Renal colic
* Malakoplakia
* Urinary incontinence
* Stress
* Urge
* Overflow
* v
* t
* e
Symptoms and signs relating to the urinary system
Pain
* Dysuria
* Renal colic
* Costovertebral angle tenderness
* Vesical tenesmus
Control
* Urinary incontinence
* Enuresis
* Diurnal enuresis
* Giggling
* Nocturnal enuresis
* Post-void dribbling
* Stress
* Urge
* Overflow
* Urinary retention
Volume
* Oliguria
* Anuria
* Polyuria
Other
* Lower urinary tract symptoms
* Nocturia
* urgency
* frequency
* Extravasation of urine
* Uremia
Eponymous
* Addis count
* Brewer infarcts
* Lloyd's sign
* Mathe's sign
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Overactive bladder
|
c0489967
| 28,136 |
wikipedia
|
https://en.wikipedia.org/wiki/Overactive_bladder
| 2021-01-18T19:07:58 |
{"mesh": ["D053201"], "umls": ["C0489967"], "wikidata": ["Q331231"]}
|
In the family reported by Poskanzer and Kerr (1961), 21 members were affected. In addition to normokalemia, favorable response to sodium chloride was an unusual feature. Danowski et al. (1975) considered the normokalemic and hyperkalemic varieties of periodic paralysis to be the same entity. Their proband was a 59-year-old male whose periodic paralysis either occurred spontaneously without hyperkalemia or was induced by increasing serum potassium. Between attacks he showed percussion-myotonia of the tongue. Electron microscopy showed dilatation of the sarcoplasmic reticulum in skeletal muscle. Since the same was observed before clinical manifestation, e.g., in asymptomatic children of an affected daughter of the proband, they suggested that the electron microscopic change may be an anatomic marker for the disease.
Misc \- Favorable response to sodium chloride Tongue \- Tongue percussion-myotonia Neuro \- Periodic paralysis Lab \- Normokalemia \- Dilatation of sarcoplasmic reticulum in skeletal muscle by EM Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
NORMOKALEMIC PERIODIC PARALYSIS
|
c1868433
| 28,137 |
omim
|
https://www.omim.org/entry/170600
| 2019-09-22T16:36:27 |
{"mesh": ["C566809"], "omim": ["170600"], "orphanet": ["680"]}
|
## Clinical Features
Gunal et al. (2005) described an apparently new form of sclerosing dysplasia of bone in 3 adult sisters in a family from Northern Syria. The parents, 2 sisters, 5 brothers, and 22 nephews and nieces showed no signs of the disorder. The ages of the patients at the time of report were 35, 41, and 48 years. Signs of the disease appeared approximately 15 years after puberty. The main complaints were swelling of the limbs and occasional mild pains in the legs. The skin showed scaly changes like those of ichthyosis vulgaris (146700). Two of the sisters had premature ovarian failure (see 311360). Ultrasound showed hypoplasia of the ovaries bilaterally in all 3 patients. Height and weight were normal. Marked endosteal and periosteal new bone formation involved the diaphyseal and metaphyseal regions of all of the long bones, with sparing of the epiphyses. Similar changes were found in the metacarpals. All the skull bones showed marked sclerosis. Chest, pelvis, and spine were radiologically normal. Gunal et al. (2005) found 1 other report of sclerosing bone dysplasia with ichthyosis, but in that familial disorder bowed legs and a tendency to fracture were present; see 166740. Gunal et al. (2005) referred to the disorder in the Syrian family as mixed sclerosing dysplasia predominantly affecting intramembranous ossification.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE
|
c1864942
| 28,138 |
omim
|
https://www.omim.org/entry/609993
| 2019-09-22T16:05:16 |
{"mesh": ["C536064"], "omim": ["609993"], "orphanet": ["75325"], "synonyms": ["Alternative titles", "SCLEROSING DYSPLASIA OF BONE WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE"]}
|
Incisional hernia
SpecialtyGeneral surgery
An incisional hernia is a type of hernia caused by an incompletely-healed surgical wound. Since median incisions in the abdomen are frequent for abdominal exploratory surgery, ventral incisional hernias are often also classified as ventral hernias due to their location. Not all ventral hernias are from incisions, as some may be caused by other trauma or congenital problems.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Treatment
* 4 References
* 5 External links
## Signs and symptoms[edit]
Clinically, incisional hernias present as a bulge or protrusion at or near the area of a surgical incision. Virtually any prior abdominal operation can develop an incisional hernia at the scar area (provided adequate healing does not occur due to infection), including large abdominal procedures such as intestinal or vascular surgery, and small incisions, such as (appendix removal or abdominal exploratory surgery). While incisional hernias can occur at any incision, they tend to occur more commonly along a straight line from the xiphoid process of the sternum straight down to the pubis, and are more complex in these regions. Hernias in these areas have a high rate of recurrence if repaired via a simple suture technique under tension. For this reason, it is especially advised that these be repaired via a tension free repair method using a synthetic mesh.
## Cause[edit]
Incisional hernias are usually caused by a weakness of the surgical wounds, which may be caused by hematoma, seroma, or infection, all of which result in decreased wound healing. They may also be caused by increased intra-abdominal pressure due to a chronic cough (as in COPD), constipation, urinary obstruction (as in BPH), pregnancy, or ascites. They can also result from poor surgical technique.
## Treatment[edit]
Traditional "open" repair of incisional hernias can be quite difficult and complicated. The weakened tissue of the abdominal wall is re-incised and a repair is reinforced using a prosthetic mesh. Complications, particularly infection of the incision, frequently occur because of the large size of the incision required to perform this surgery. A mesh infection after this type of hernia repair most frequently requires a complete removal of the mesh and ultimately results in surgical failure. In addition, large incisions required for open repair are commonly associated with significant postoperative pain. Reported recurrence rates after open repair are up to 20%[1][2] and influenced by mesh size and fixation type.[3][4][5][6]
Regeneration by autologous tissue stem cells is a unique method for repair of large incisional hernias. It not only obviates causative factors responsible for herniation but utilises these factors to strengthen repair and regeneration of traumatised tissues.[7][8]
Laparoscopic incisional hernia repair is a new method of surgery for this condition.[9][10][11] The operation is performed using surgical microscopes and specialized instruments. The surgical mesh is placed into the abdomen underneath the abdominal muscles through small incisions to the side of the hernia. In this manner, the weakened tissue of the original hernia is never re-incised to perform the repair, and one can minimize the potential for wound complications such as infections. In addition, performance of the operation through smaller incisions can make the operation less painful and speed recovery. Laparoscopic repair has been demonstrated to be safe and a more resilient repair than open incisional hernia repair.
It is uncertain whether wound drains insertion after incisional hernia repair is associated with better outcomes.[12]
## References[edit]
1. ^ Park, E.; Roth, J.S. (2006). "Abdominal wall hernia". Curr Prob Surg. 43 (5): 326–375. doi:10.1067/j.cpsurg.2006.02.004. PMID 16679124.
2. ^ Bucknall, T.E.; Cox, P.J.; Ellis, H. (1982). "Burst abdomen and incisional hernia: a prospective study of 1129 major laparotomies". Br Med J. 284 (6320): 931–933. doi:10.1136/bmj.284.6320.931. PMC 1496540. PMID 6279229.
3. ^ Edwards, C.; Geiger, T.; Bartow, K.; et al. (2009). "Laparoscopic transperitoneal repair of flank hernias: A retrospective review of 27 patients". Surg Endosc. 23 (12): 2692–2696. doi:10.1007/s00464-009-0477-4. PMID 19462203. S2CID 22252827.
4. ^ Schumpelick, V.; Klinge, U.; Junge, K.; Stumpf, M. (2004). "Incisional abdominal hernia: the open mesh repair". Langenbecks Arch Surg. 389 (1): 1–5. doi:10.1007/s00423-003-0352-z. PMID 14745557. S2CID 20775829.
5. ^ Lyons, M.; Mohan, H.; Winter, D.C.; Simms, C.K. (2015). "Biomechanical abdominal wall model applied to hernia repair". Br J Surg. 102 (2): e133-139. doi:10.1002/bjs.9687. PMID 25627126. S2CID 205514994.
6. ^ Sharma, A.; Dey, A.; Baijal, M.; Chowbey, P.K. (2011). "Laparoscopic repair of suprapubic hernias: transabdominal partial extraperitoneal (TAPE) technique". Surg Endosc. 25 (7): 2147–2152. doi:10.1007/s00464-010-1513-0. PMID 21184109. S2CID 25506589.
7. ^ Matapurkar, B.G.; et al. (1991, 1999). "Technique used to regenerate the abdominal wall aponeurosis using adult autologous tissue stem cells [uncertain title]". World Journal of Surgery. Check date values in: `|year=` (help)[full citation needed]
8. ^ The technique is now published in R. Maingot's textbook of abdominal operations in 1997.[full citation needed]
9. ^ Bingener, J.; Buck, L.; Richards, M.; Michalek, J.; Schwesinger, W.; Sirinek, K. (2007). "Long term outcomes in laparoscopic vs open ventral hernia repair". Arch Surg. 142 (6): 562–567. doi:10.1001/archsurg.142.6.562. PMID 17576893.
10. ^ Nguyen, S.Q.; Divino, C.M.; Buch, K.E.; Schnur, J.; Weber, K.J.; Katz, L.; Reiner, M.A.; Aldoroty, R.A.; Herron, D.M. (2008). "Postoperative pain after laparoscopic ventral hernia repair: A prospective comparison of sutures versus tacks". Journal of Society of Laparoendoscopic Surgery. 12 (2): 113–116. PMC 3016187. PMID 18435881.
11. ^ LeBlanc, K.A. (2005). "Incisional hernia repair: Laparoscopic techniques". World Journal of Surgery. 29 (8): 1073–1079. doi:10.1007/s00268-005-7971-1. PMID 15983711. S2CID 189870909.
12. ^ Gurusamy, Kurinchi Selvan; Allen, Victoria B (2013-12-17), The Cochrane Collaboration (ed.), "Wound drains after incisional hernia repair", Cochrane Database of Systematic Reviews, Chichester, UK: John Wiley & Sons, Ltd (12): CD005570.pub4, doi:10.1002/14651858.cd005570.pub4, PMID 24346957
## External links[edit]
Classification
D
* MeSH: D000069290
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Incisional hernia
|
c0267716
| 28,139 |
wikipedia
|
https://en.wikipedia.org/wiki/Incisional_hernia
| 2021-01-18T18:34:25 |
{"mesh": ["D000069290"], "umls": ["C0267716", "C4021645"], "wikidata": ["Q2633160"]}
|
Small benign skin tumor
For similar structures in mucous membranes such as the colon, see Polyp (medicine).
Skin tag
Other namesAcrochordon, acrochorda, skin polyp, fibroepithelial polyp,[1] fibrovascular papilloma, soft fibroma, fibroma molle
Several acrochorda in the skin of the lower neck, soft consistency, the bottom acrochordon taking a pedunculated shape
SpecialtyDermatology
A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases (or rubs together), such as the neck, armpit and groin. They may also occur on the face, usually on the eyelids. Though tags up to a 12.7 mm long have been seen,[2] they are typically the size of a grain of rice. The surface of an acrochordon may be smooth or irregular in appearance and is often raised from the surface of the skin on a fleshy stalk called a peduncle. Microscopically, an acrochordon consists of a fibrovascular core, sometimes also with fat cells, covered by an unremarkable epidermis. However, tags may become irritated by shaving, clothing, jewellery or eczema.
## Contents
* 1 Etiology
* 2 Treatment
* 3 See also
* 4 References
* 5 External links
## Etiology[edit]
Acrochordon, pedunculated, fibrous mass covered with epithelium of varied thickness, H&E stain
Skin tags are thought to occur from skin rubbing up against skin, since they are so often found in skin creases and folds.[2] Studies have shown existence of low-risk human papillomaviruses 6 and 11 in skin tags, hinting at a possible role in its pathogenesis[3] although one 2012 study found no association between skin tags and low risk or high risk HPV.[4] Acrochorda have been reported to have a prevalence of 46% in the general population.[5] A causal genetic component is thought to exist.[6] They also are more common in women than in men. Acrochorda were once thought to be associated with colorectal polyps, but studies have shown no such connection exists.[7] Rarely, they can be associated with the Birt–Hogg–Dubé syndrome, acromegaly, and polycystic ovary syndrome.[8]
Elevated blood sugar and insulin is linked to an increased incidence of skin tags through an unknown mechanism.[9]
## Treatment[edit]
If removal is desired or warranted, it can be achieved by a dermatologist, general practitioner or similarly trained professional who may use cauterisation, cryosurgery, excision, laser, or surgical ligation to remove the acrochorda.[2][10] Varied home remedies are also available, but most are unproven and some (e.g. tea tree oil) may cause allergic skin reactions.[10]
## See also[edit]
* Molluscum contagiosum (a viral disease which is similar in appearance and grows in similar areas)
* List of cutaneous neoplasms associated with systemic syndromes
* Papilloma
* Cutaneous horn
## References[edit]
1. ^ Edwards L, Lynch PJ (2010). Genital Dermatology Atlas. Lippincott Williams & Wilkins. p. 209. ISBN 9781608310791.
2. ^ a b c "Cutaneous skin tag". Medline Plus. Retrieved 20 August 2012.
3. ^ Gupta S, Aggarwal R, Gupta S, Arora SK (2008). "Human papillomavirus and skin tags: Is there any association?". Indian J Dermatol Venereol Leprol. 74 (3): 222–5. doi:10.4103/0378-6323.39585. PMID 18583787.
4. ^ Pezeshkpoor F, Jafarian AH, Ghazvini K, Yazdanpanah MJ, Sadeghian A, Esmaili H, Karrabi M, Rohani F, Joushan B (May 2012). "An association of human papillomaviruses low risk and high risk subtypes with skin tag". Iranian Journal of Basic Medical Sciences. 15 (3): 840–4. PMC 3586892. PMID 23493098.
5. ^ Schwartz RA. "Acrochordon". Medscape Reference. Retrieved 20 August 2012.
6. ^ "Acrochordons - Symptoms & Treatment". Womens-health-beauty.com. Retrieved 28 November 2011.
7. ^ Brendler; et al. (June 1989). "Skin tags are not a risk factor for colorectal polyps". Journal of Clinical Gastroenterology. 11 (3): 299–302. doi:10.1097/00004836-198906000-00011. PMID 2754216. S2CID 39346487.
8. ^ "Acrochordon (Skin Tag, Fibroepithelial Polyp)". Thedoctorsdoctor.com. 1 December 2008. Retrieved 28 November 2011.
9. ^ Tamega A, Aranha AM, Guiotoku MM, Miot LD, Miot HA (1 January 2010). "[Association between skin tags and insulin resistance]". Anais Brasileiros de Dermatologia. 85 (1): 25–31. doi:10.1590/S0365-05962010000100003. PMID 20464083.
10. ^ a b "Skin tag removal: Optional but effective" (Harvard Medical School, March 23, 2020)
## External links[edit]
Classification
D
* ICD-10: L91.8
(congenital Q82.8)
* ICD-9-CM: 701.9
* OMIM: 109400
* DiseasesDB: 33273
External resources
* MedlinePlus: 000848
* Patient UK: Skin tag
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Skin tag
|
c0037293
| 28,140 |
wikipedia
|
https://en.wikipedia.org/wiki/Skin_tag
| 2021-01-18T18:35:06 |
{"umls": ["C0037293"], "icd-9": ["701.9"], "icd-10": ["Q82.8", "L91.8"], "wikidata": ["Q3179593"]}
|
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Tricho-retino-dento-digital syndrome
|
c1860605
| 28,141 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1264
| 2021-01-23T18:43:46 |
{"gard": ["5257", "938"], "mesh": ["C536576"], "omim": ["191482"], "umls": ["C1860605"], "icd-10": ["Q82.4"], "synonyms": ["Bork syndrome", "Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"]}
|
Ked itch
SpecialtyDermatology
Ked itch is a cutaneous condition caused by sheep ked (Melophagus ovinus) which feed by thrusting their sharp mouth parts into the skin and sucking blood.[1]:448
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ked itch
|
None
| 28,142 |
wikipedia
|
https://en.wikipedia.org/wiki/Ked_itch
| 2021-01-18T18:31:12 |
{"wikidata": ["Q4289690"]}
|
Nervous system disease
SpecialtyNeurology
Nervous system diseases, also known as nervous system or neurological disorders, refers to a small class of medical conditions affecting the nervous system. This category encompasses over 600 different conditions, including genetic disorders, infections, cancer, seizure disorders (such as epilepsy), conditions with a cardiovascular origin (such as stroke), congenital and developmental disorders (such as spina bifida), and degenerative disorders (such as multiple sclerosis, Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis).[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetic
* 2.2 Congenital/developmental defect
* 2.3 Cancer
* 2.4 Infection
* 2.5 Seizure disorder
* 2.6 Vascular
* 2.7 Degenerative
* 3 Anatomy
* 3.1 Central nervous system (CNS)
* 3.1.1 Brain
* 3.1.2 Spinal cord
* 3.2 Peripheral nervous system
* 4 Diagnosis
* 4.1 Lumbar puncture
* 5 Treatments
* 6 See also
* 7 References[23]
* 8 External links
## Signs and symptoms[edit]
Signs and symptoms can vary depending on the condition. Given the significance of the nervous system in human physiology, symptoms can involve other organ systems and result in motor dysfunction, sensory impairment, pain, etc.
## Causes[edit]
### Genetic[edit]
Some nervous system diseases are due to genetic mutations.[2] For example, Huntington's disease is an inherited disease characterized by progressive neurodegeneration.[3] Huntington's disease results from a mutation in either copy of the HTT gene, which results in an abnormally folded protein.[4] The accumulation of mutated proteins results in brain damage of the basal ganglia.[4]
### Congenital/developmental defect[edit]
Developing babies can suffer from birth defects that affect the formation of the nervous system.[5] For example, Anencephaly (or spina bifida) causes abnormalities in the nervous system due to neural tube defects.[5]
### Cancer[edit]
This figure illustrates how glioblastoma affects brain tissue.
Specialized cells in the central nervous system, such as glial cells, may proliferate abnormally and form gliomas.[6] Glioblastoma is an aggressive form of glioma.[7]
### Infection[edit]
Pathogens like fungi, bacteria, and viruses can affect the nervous system.[8] For example, meningitis is a common infection of the central nervous system, where bacterial or viral infections cause an inflammation of the meninges.[9]
### Seizure disorder[edit]
It is suspected that seizures occur because of synchronized brain activity.[10] Epilepsy, for example, is characterized by an abnormal electrical activity in the brain, which causes repeated seizures.[11]
### Vascular[edit]
The brain is rich in blood vessels because it requires a lot of nutrients and oxygen.[12] A stroke may result from a blood clot or hemorrhage.[13]
### Degenerative[edit]
This diagram shows the myelin sheath around axons of healthy neurons looks like, and the result of demyelination of neurons in Multiple Sclerosis.
A neurodegenerative disease is a disease that causes damage to neurons. Examples of neurodegenerative disease include Alzheimer's Disease,[14] Parkinson's Disease,[15] Amyotrophic Lateral Sclerosis.[16] For example, Multiple Sclerosis (MS) is an inflammatory neurodegenerative disease, where the body initiate an inflammatory reaction in the central nervous system, and causes damage to neurons.[17][18] Neurodegneration is different in each disease, for example, MS is a result of a degenerative process called demyelination.[17] On the other hand, Parkinson's Disease results from damage of neurons in the Substantia Nigra, which is important to initiate motor behavior.[19]
## Anatomy[edit]
### Central nervous system (CNS)[edit]
According to Tim Newman, the central nervous system is made up of the brain and spinal cord, it collects information from the entire body and it also controls functions throughout the entire body.[20]
#### Brain[edit]
Newman's research also shows that the brain is the most complex organ in the entire body. The brain is split up into 4 lobes: the temporal, parietal the occipital, and the frontal The brain has over 100 billion neurons and it uses about 20% of the body's oxygen.[21]
Main article: Human brain
#### Spinal cord[edit]
The spinal cord runs through most of the back. The spinal cord contains a total of 31 spinal nerves in between each vertebrae. The nerves connect to the peripheral nervous system.[20]
### Peripheral nervous system[edit]
The peripheral nervous system connects to the muscles and glands and sends information to the central nervous system.[22]
## Diagnosis[edit]
There are a number of different tests that can be used to diagnose neurological disorders.
### Lumbar puncture[edit]
Main article: Lumbar puncture
A lumbar puncture (LP), also known as a spinal tap, is a procedure where a hollow needle is inserted into the subarachnoid space of the spinal cord, allowing for the collection of cerebrospinal fluid (CSF) for collection and subsequent analysis. Red and white blood cell counts, protein and glucose levels, and the presence of abnormal cells or pathogens such as bacteria and viruses can all be screened for. The opacity and color of the fluid can also yield useful information that can assist in a diagnosis.
## Treatments[edit]
The treatments for nervous system disorders varies depending on the condition, and can include interventions such as medication, surgery, and therapy.
## See also[edit]
* Central nervous system disease
* Peripheral neuropathy
## References[23][edit]
1. ^ "Nervous System Diseases – Neurologic Diseases". MedlinePlus. Retrieved 2018-02-02.
2. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 364. ISBN 9781605357430.CS1 maint: location (link)
3. ^ Podvin, Sonia; Reardon, Holly T.; Yin, Katrina; Mosier, Charles; Hook, Vivian (March 2019). "Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration". Journal of Neurology. 266 (3): 551–564. doi:10.1007/s00415-018-8940-6. ISSN 0340-5354. PMID 29956026. S2CID 49530265.
4. ^ a b Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 365. ISBN 9781605357430.CS1 maint: location (link)
5. ^ a b Johnson, Candice Y.; Honein, Margaret A.; Flanders, W. Dana; Howards, Penelope P.; Oakley, Godfrey P.; Rasmussen, Sonja A. (2012). "Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: A systematic review of the literature". Birth Defects Research Part A: Clinical and Molecular Teratology. 94 (11): 857–863. doi:10.1002/bdra.23086. ISSN 1542-0760. PMC 4589245. PMID 23097374.
6. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 208. ISBN 9781605357430.CS1 maint: location (link)
7. ^ Lim, Michael; Xia, Yuanxuan; Bettegowda, Chetan; Weller, Michael (July 2018). "Current state of immunotherapy for glioblastoma". Nature Reviews Clinical Oncology. 15 (7): 422–442. doi:10.1038/s41571-018-0003-5. ISSN 1759-4774. PMID 29643471. S2CID 4797336.
8. ^ Houlihan, Catherine F.; Bharucha, Tehmina; Breuer, Judith (June 2019). "Advances in molecular diagnostic testing for central nervous system infections". Current Opinion in Infectious Diseases. 32 (3): 244–250. doi:10.1097/QCO.0000000000000548. ISSN 0951-7375. PMID 30950854. S2CID 96435953.
9. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 49. ISBN 9781605357430.CS1 maint: location (link)
10. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 89. ISBN 9781605357430.CS1 maint: location (link)
11. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 88. ISBN 9781605357430.CS1 maint: location (link)
12. ^ Breedloe, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 50. ISBN 9781605357430.CS1 maint: location (link)
13. ^ Alsharif, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Publisher. p. 51. ISBN 9781605357430.CS1 maint: location (link)
14. ^ Hurtley, Stella M. (1998-11-06). "Neurodegeneration". Science. 282 (5391): 1071. doi:10.1126/science.282.5391.1071. ISSN 0036-8075. S2CID 220112630.
15. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 361. ISBN 9781605357430.CS1 maint: location (link)
16. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 350. ISBN 9781605357430.CS1 maint: location (link)
17. ^ a b Shroff, Geeta (2018-02-12). "A review on stem cell therapy for multiple sclerosis: special focus on human embryonic stem cells". Stem Cells and Cloning: Advances and Applications. 11: 1–11. doi:10.2147/SCCAA.S135415. ISSN 1178-6957. PMC 5813951. PMID 29483778.
18. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 35. ISBN 9781605357430.CS1 maint: location (link)
19. ^ Breedlove, S. Mark (2018). Behavioral Neuroscience. 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 47. ISBN 9781605357430.CS1 maint: location (link)
20. ^ a b "Central nervous system: Structure, function, and diseases". Medical News Today.
21. ^ "Central nervous system: Structure, function, and diseases".
22. ^ "Peripheral Nervous System". www.indiana.edu.
23. ^ "Nervous System Side Effects". Cancer.Net. 2012-07-02. Retrieved 2019-04-05.
## External links[edit]
Classification
D
* ICD-10: G00-G99
* ICD-9-CM: 320-359
* MeSH: D009422
* DiseasesDB: 28844
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Nervous system disease
|
c0027765
| 28,143 |
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https://en.wikipedia.org/wiki/Nervous_system_disease
| 2021-01-18T18:36:51 |
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|
Lenz–Majewski syndrome
Other namesLenz–Majewski hyperostotic dwarfism (LMHD)[1]
Lenz–Majewski syndrome (LMS), also known as Lenz–Majewski hyperostotic dwarfism (LMHD), is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia and hypertelorism.[2]:571
## Contents
* 1 Genetics
* 2 See also
* 3 References
* 4 External links
## Genetics[edit]
In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.[3]
## See also[edit]
* Skin lesion
## References[edit]
1. ^ "OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD". omim.org. Retrieved 14 March 2019.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Sousa, Sérgio B.; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M.; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlová, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L.; Vance, Jean E.; Moore, Gudrun E. (2014). "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nature Genetics. 46 (1): 70–76. doi:10.1038/ng.2829. hdl:10400.4/1596. PMID 24241535. S2CID 24824535.
## External links[edit]
Classification
D
* ICD-10: Q87.1
* OMIM: 151050
* MeSH: C537115
* DiseasesDB: 32264
* synd/1653 at Who Named It?
This Genodermatoses article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Lenz–Majewski syndrome
|
c0432269
| 28,144 |
wikipedia
|
https://en.wikipedia.org/wiki/Lenz%E2%80%93Majewski_syndrome
| 2021-01-18T18:37:30 |
{"gard": ["3223"], "mesh": ["C537115"], "umls": ["C0432269"], "orphanet": ["2658"], "wikidata": ["Q6523462"]}
|
Mouth infections, also known as oral infections, are a group of infections that occur around the oral cavity. They include dental infection, dental abscess, and Ludwig's angina.[1] Mouth infections typically originate from dental caries at the root of molars and premolars that spread to adjacent structures. In otherwise healthy patients, removing the offending tooth to allow drainage will usually resolve the infection. In cases that spread to adjacent structures or in immunocompromised patients (cancer, diabetes, transplant immunosuppression), surgical drainage and systemic antibiotics may be required in addition to tooth extraction. Since bacteria that normally reside in the oral cavity cause mouth infections, proper dental hygiene can prevent most cases of infection. As such, mouth infections are more common in populations with poor access to dental care (homeless, uninsured, etc.) or populations with health-related behaviors that damage one's teeth and oral mucosa (tobacco, methamphetamine, etc.).[2] This is a common problem, representing nearly 36% of all encounters within the emergency department related to dental conditions.[3]
Patients with mouth infections usually complain of pain at the affected tooth with or without fevers. Inability to fully open one's mouth, also known as trismus, suggests that the infection has spread to spaces between the jaw and muscles of mastication (masseter, medial pterygoid, and temporalis). If an abscess has formed, swelling, redness, and tenderness will be present. Depending on the location of the abscess, it will be visible intraorally, extraorally, or both. Severe infections with significant swelling may cause airway obstruction by shifting/enlarging soft tissue structures (floor of mouth, tongue, etc.) or by causing dysphagia that prevents adequate clearance of saliva. This is a medical emergency and may require endonasal intubation or tracheotomy to protect one's airway. The development of stridor, shortness of breath, and pooling oral secretions may indicate impending airway compromise due to a worsening mouth infection. Other rare but dangerous complications include osteomyelitis, cavernous sinus thrombosis, and deep neck space infection.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 1.1.1 Osteomyelitis
* 1.1.2 Cavernous sinus thrombosis
* 1.1.3 Deep neck space infection
* 2 Causes
* 3 Anatomy of mouth
* 3.1 Oral cavity
* 3.2 Spread of oral infection
* 3.2.1 Primary space
* 3.2.2 Secondary space
* 4 Diagnosis
* 5 Treatment
* 6 References
## Signs and symptoms[edit]
Dental pain and swelling are the two hallmark symptoms of a mouth infection. Fever is sometimes present, but not as frequently as tooth pain or persistent swelling.[4] The swelling will occur at the tooth root or at the spaces occupied by the infection. Other symptoms that usually accompany an infection like increased heart rate, low energy, chills, and sweating may also be present. If infection spreads to the space between the muscles of mastication, then trismus, the inability to completely open one's mouth, will also be present.[citation needed]
Severe mouth infections become dangerous when breathing or swallowing are impaired.[2] Since the primary and secondary spaces extend towards the back of the throat, significant swelling can lead to airway obstruction. Signs and symptoms of airway obstruction are difficulty breathing, stridor, low oxygen saturation measured by a pulse oximeter, blue discoloration of the skin or lips, and stridor. Similarly, infections that spread to adjacent structures may also impair swallowing or cause significant pain with swallowing. Individuals with long-standing infections may lose significant weight because pain blunts their desire and impairs their ability to eat food. When infections affect swallowing, one may not be able to swallow saliva and other oral secretions faster than they are produced, causing drooling. Pooling secretions at the back of the throat increases the likelihood of the saliva traveling down the windpipe and into the lungs instead of through the esophagus and into the stomach. This process of breathing in material that should be swallowed is known as aspiration, and can lead to more infections like pneumonia.[2][3]
### Complications[edit]
The complications that arise from mouth infections depend on how long the infection has persisted and where the infection has spread. The three main, albeit rare, complications of mouth infections are osteomyelitis, cavernous sinus thrombosis, and deep neck space infections.[5]
#### Osteomyelitis[edit]
Mouth infections that persist for months have the potential to cause a chronic infection of the surrounding bone, also known as osteomyelitis.[citation needed]
#### Cavernous sinus thrombosis[edit]
Although rare, mouth infections may also spread through the nasal and facial veins that drain into a reservoir of deoxygenated blood called the cavernous sinus. Once the infection has spread to the cavernous sinus, it can compress important nerves (cranial nerves III, IV, V1, V2, and VI) within this space and obstruct venous drainage from the upper face. The main symptoms are swelling and pain of both eyes, fever, changes in vision, and headaches. On exam, redness and decreased range of motion of the eyes are present in about 90% of cases. Treatment includes antibiotics and antithrombotics to treat the infection and blood clot.[6] This is a serious complication that leads to death or serious morbidity if not diagnosed within the first week of symptoms.[5]
#### Deep neck space infection[edit]
Deep neck space infections are mouth infections that have spread to the spaces between the connective tissue that separates the compartments of the neck, also known as the deep cervical fascia. When an infection involves the deep neck spaces, patients may report a wide variety of symptoms, including fever, pain with swallowing, inability to swallow, confusion, reduced mobility of the neck, chest pain, shortness of breath, and many other alarming symptoms. If the infection remains untreated or under treated, then even more serious complications can occur like descending necrotizing mediastinitis (infection of the soft tissues that encase the heart) and cervical necrotizing fasciitis (infection of the soft tissues along the throat and cervical spine). The mortality rate of mouth infections that affect the deep neck space and lead to necrotizing mediastinitis or necrotizing fasciitis is high at around a 40-60% mortality rate.[5]
## Causes[edit]
Mouth infections are most commonly caused by an overgrowth of bacteria that normally populate the oral cavity.[2] In a healthy adult, billions of bacteria, viruses, and fungi reside within the oral cavity and represent more than 500 different species. They are collectively known as the oral microbiome. When healthy, the oral microbiome is in dynamic equilibrium such that no one bacteria or group of organisms dominates. However, certain situations, like a decaying tooth root or a penetrating puncture wound from a fish bone, can generate an environment that disrupts the normal oral microbiome and promote the growth of pathogenic bacteria.[7] Although sore throats (pharyngitis) are caused by viruses and oral yeast infections (candidiasis) are caused by fungi, most mouth infections that lead to swelling and abscesses are caused by bacteria.[4]
The bacteria of the oral microbiome consist of a wide variety of gram positive cocci and rods, gram negative cocci and rods, obligate anaerobes, and facultative anaerobes.[7] The most common bacteria that causes mouth infections are Streptococcus species.[8] Poor dental hygiene promotes the accumulation of these bacteria at the tooth root, eventually causing a cavity or dental caries. The decaying tooth root provides bacteria with an enclosed environment with low oxygen content. Consequently, the obligate and facultative anaerobes present within the oral cavity flourish and outcompete the other bacteria at the site of tooth decay, causing the dental caries to escalate into a mouth infection. The corrosive enzymes released by the anaerobes erode the surrounding bone and enable the infection to invade surrounding structures.[2] Given the natural history of a mouth infection, the vast majority of clinically-treated oral infections are polymicrobial, or caused by multiple different species of bacteria at the same time.[9] Until the source of the infection is controlled with some form of drainage and antibiotics, a mouth infection will likely not resolve on its own.[citation needed]
## Anatomy of mouth[edit]
Anatomy of mouth
The anatomy of the oral cavity affects the progression of infection and dictates the severity of disease. In other words, where the infection starts will determine the pattern of its spread and its catastrophic potential based on the surrounding anatomy.
### Oral cavity[edit]
The oral cavity serves as the starting point of the digestive track and facilitates breathing as a channel for airflow to the lungs. The borders of the oral cavity include the lips in the front, cheeks on the side, mylohyoid muscle/associated soft tissue below, soft and hard palate above, and the oropharynx at the back. The most important structures within the mouth include teeth for chewing and the tongue for speech and assistance with swallowing. The oral cavity is lined with specialized mucosa containing salivary glands that moisten food, breakdown sugars, and humidify air prior to entering the lungs. The roots of the upper teeth are anchored into a bone called the maxilla, more commonly known as the hard palate, at ridges called the alveolar process. The roots of the lower teeth are anchored into a bone called the mandible, more commonly known as the jaw, at their respective alveolar processes. The surface of the oral cavity between the teeth and the inner side of the lips are called the oral vestibule.[10][11]
Surrounding the oral cavity, there are many different muscles that facilitate chewing, opening the mouth, and swallowing. Each muscle, group of muscles, or separate anatomical compartment is encased in a thin fibrous layer of connective tissue called fascia. Normally, the fascia of adjacent structures are in direct contact with each other. However, air or pus can occupy the space between adjacent fascia, known as fascial planes, and collect over time. As the air pocket or pus enlarges within the fascial planes, the structures surrounding the abnormality can become compressed or shifted out of its normal place. These phenomena of compression and deviation due to a growing infection/air pocket drive the progression of disease into potentially life-threatening situations.[2]
### Spread of oral infection[edit]
Mouth infections spread from the root of the infected tooth through the jaw bones and into potential spaces between the fascial planes of surrounding soft tissue, eventually forming an abscess. These potential spaces are usually empty, but can expand and form a pocket of pus when an infection drains into them. The potential spaces are categorized into primary and secondary spaces.[citation needed]
#### Primary space[edit]
A primary space is a potential space between adjacent soft tissue structures that communicate directly with the infected tooth through the eroded bone. In the upper jaw (maxilla), the primary spaces are the buccal and vestibular spaces. The most clinically significant structures that dictate the pattern of infectious spread are the buccinator muscle and the maxillary sinus. Infection that originates above the buccinator's attachment point with the maxilla will spread laterally into the buccal space. Infection that begins below the buccinator's attachment point with the maxilla will spread inferiorly into the vestibular space. Rarely, the infection will spread upwards into the maxillary sinus and cause a sinusitis.[2]
In the lower jaw (mandible), the primary spaces are the sublingual, submandibular, and submental spaces. The location of the mylohyoid dictates the spread of infection. It attaches to the mandible along a line that separates the sublingual and submandibular space. If an infection begins above the mylohyoid's point of attachment, then the infection will spread to the sublingual space. If the infection originates below the mylohyoid's point of attachment, then the infection will spread to the submandibular space. The submental space is located behind the mentalis muscles, and infections spread to this space when the oral infection begins at the roots of the mandibular incisors because they are so long.[2]
#### Secondary space[edit]
Primary spaces are the result of direct spread from the infected tooth, while secondary spaces are the result of spread from primary spaces. In the oral cavity, mouth infections from primary spaces can spread to fascial planes between the muscles of mastication (masseter, medial pterygoid, and temporalis) or within the deep neck spaces. The space between the muscles of mastication is collectively known as the masticator space and they are all connected with each other at the back of the throat. Therefore, when an infection spreads to the masticator space, significant swelling, tenderness, and trismus are usually present. Deep neck spaces, another set of secondary spaces, are located between fascial planes that separate the deeper structures of the neck into discrete compartments. They are important because they begin at the back of the throat and depending on the space, can track downwards to the chest cavity or encase the windpipe. Infections that involve the deep neck spaces are rare, but must be treated immediately with surgery to washout the infection because they can compromise the airway and lead to fatal complications like mediastinitis.[2][3]
## Diagnosis[edit]
Green arrows indicate tooth decay. Blue arrows indicate abscess at root of tooth. The infection at the root of the tooth can travel through bone and infect surrounding soft tissue.
Mouth infections are usually diagnosed on history and physical exam in the dental office or at a clinic visit with an otolaryngologist.[2] Swelling within the oral cavity or cheeks, along with a history of progressively worsening tooth pain and fevers, is usually enough evidence to support the diagnosis of a mouth infection. Depending on the severity of the infection, further tests may include x-rays and CT scans of the mouth to better characterize the location and extent of the infection.[12] If the infection is drained with a needle or scalpel, then a swab of the infection is collected to identify the microbes present in the abscess and to determine their respective susceptibilities to antibiotics. Other lab tests may include a complete blood count with differential, serum electrolyte concentrations, and other routine assays for an infectious workup.[2][3]
## Treatment[edit]
Although mouth infections can present in many different ways, they are managed according to the same guiding principles - protect the airway, drain the abscess, and treat with antibiotics if necessary. Securing a patient's airway is the most important part of initial treatment because loss of airway is emergently life-threatening. Inflammation and large abscesses, particularly those within the floor of the mouth, may block airflow into the lungs.[3] To pre-emptively protect a patient's airway, placing flexible plastic tubing through the nasal cavity and into the trachea, called endonasal intubation, is typically the first option. It can be performed with or without direct visualization with laryngoscopy, a small camera with a live video feed to ensure the tubing is placed in the proper location. If attempts to intubate through the nasal cavity are unsuccessful or if the airway must be re-established quickly, then an incision can be made through the front of the neck to gain access into the trachea, also known as a tracheotomy.[2]
After stabilizing the patient's airway, extracting the infected tooth will typically promote adequate drainage and the infection will resolve shortly thereafter. If the infection involves multiple primary spaces or any of the secondary spaces previously mentioned, then incision and drainage with culture-guided antibiotics may be indicated. Since most mouth infections are polymicrobial, penicillin is an appropriate initial choice of antibiotic because of its activity against Streptococcus and gram negative anaerobes. If the patient has a penicillin allergy, then clindamycin with or without metronidazole are also effective empiric antibiotic regimens. Additionally, empiric antibiotics should be initiated in patients with a compromised immune system, like those on immunosuppressive medications, with diabetes, or with cancer. In situations where the infection worsens or fails to improve after multiple days, washing out the wound in the operating room should control the source of infection and promote healing.[2][3]
## References[edit]
1. ^ Rajendran, Arya; Sivapathasundharam, B. (2014). Shafer's Textbook of Oral Pathology. Elsevier Health Sciences. p. 503. ISBN 9788131238004.
2. ^ a b c d e f g h i j k l m n Flint, Paul (2010). Cummings Otolaryngology - Head and Neck Surgery, 5th Edition. Elsevier. pp. 177–190. ISBN 978-0808924340.
3. ^ a b c d e f Vytla, S; Gebauer, D (2017-07-24). "Clinical guideline for the management of odontogenic infections in the tertiary setting". Australian Dental Journal. 62 (4): 464–470. doi:10.1111/adj.12538. ISSN 0045-0421. PMID 28621799.
4. ^ a b Ballenger's otorhinolaryngology : head and neck surgery. Snow, James B. (James Byron), 1932-, Wackym, Phillip A., Ballenger, John Jacob, 1914- (17th ed.). Shelton, Conn.: People's Medical Pub. House/B C Decker. 2009. p. 779. ISBN 9781607950578. OCLC 666987410.CS1 maint: others (link)
5. ^ a b c Bali, Rishi Kumar; Sharma, Parveen; Gaba, Shivani; Kaur, Avneet; Ghanghas, Priya (2015). "A review of complications of odontogenic infections". National Journal of Maxillofacial Surgery. 6 (2): 136–143. doi:10.4103/0975-5950.183867. ISSN 0975-5950. PMC 4922222. PMID 27390486.
6. ^ Plewa, Michael C.; Gupta, Mohit (2018), "Cavernous Sinus, Thrombosis", StatPearls, StatPearls Publishing, PMID 28846357, retrieved 2018-12-10
7. ^ a b Samaranayake, Lakshman; Matsubara, Victor H. (2017-04-01). "Normal Oral Flora and the Oral Ecosystem". Dental Clinics of North America. 61 (2): 199–215. doi:10.1016/j.cden.2016.11.002. ISSN 0011-8532. PMID 28317562.
8. ^ Gill, Y.; Scully, C. (August 1990). "Orofacial odontogenic infections: review of microbiology and current treatment". Oral Surgery, Oral Medicine, and Oral Pathology. 70 (2): 155–158. doi:10.1016/0030-4220(90)90109-6. ISSN 0030-4220. PMID 2290641.
9. ^ Flynn, Thomas R. (2011-11-01). "What are the Antibiotics of Choice for Odontogenic Infections, and How Long Should the Treatment Course Last?". Oral and Maxillofacial Surgery Clinics of North America. 23 (4): 519–536. doi:10.1016/j.coms.2011.07.005. ISSN 1042-3699. PMID 21982604.
10. ^ M.D., Probst, Rudolf (2017-10-11). Basic otorhinolaryngology : a step-by-step learning guide. Grevers, Gerhard,, Iro, H. (Heinrich) (2nd ed.). Stuttgart. pp. 70–95. ISBN 9783131324429. OCLC 987440816.
11. ^ Otolaryngology : basic science and clinical review. Van de Water, Thomas R., Staecker, Hinrich. New York: Thieme. 2006. pp. 627–633. ISBN 978-1423788225. OCLC 70659531.CS1 maint: others (link)
12. ^ Mardini, Shaza; Gohel, Anita (January 2018). "Imaging of Odontogenic Infections". Radiologic Clinics of North America. 56 (1): 31–44. doi:10.1016/j.rcl.2017.08.003. ISSN 1557-8275. PMID 29157547.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Mouth infection
|
c0555971
| 28,145 |
wikipedia
|
https://en.wikipedia.org/wiki/Mouth_infection
| 2021-01-18T19:04:46 |
{"umls": ["C0555971"], "wikidata": ["Q28130051"]}
|
Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
## Epidemiology
Less than 100 cases have been reported to date.
## Clinical description
The disease manifests at birth or shortly thereafter with generalized blistering and superficial erosions that heal with atrophic scarring and milia formation. After the first years of life, blistering tends to localize to folds, particularly axillae, inframammary folds and the groin, as well as to the base of the neck, the uppermost back, and the lumbosacral and perianal area. Nail dystrophy is typical but of variable severity. Lesions of the oral cavity are always present and can lead to microglossia (loss of lingual papillae and fusion of the tongue to the mouth floor) and ankyloglossia (obliteration of the oral vestibules and progressive restriction of oral aperture). Esophageal involvement is often severe and is associated with a risk of esophageal stricture (10% and 90% by ages 5 and 30, respectively) that can impair intake of nutrients. Lesions of the lowermost portion of the genitourinary tract are also common and may lead to the development of vaginal strictures that may impair normal sexual function. Other less common extracutaneous features are observed and include external auditory canal stenosis with some degree of hearing loss, corneal erosions, and anemia. Growth delay is rare. Patients may develop squamous cell carcinomas, with a cumulative risk reaching 23% by age 50 (U.S. EB national registry) which is much lower than in either of the two generalized subtypes of RDEB (RDEB-sev gen and RDEB-other; see these terms).
## Etiology
The disease is caused by mutations in the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or reduced amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma.
## Genetic counseling
Transmission is autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Recessive dystrophic epidermolysis bullosa inversa
|
c0079474
| 28,146 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79409
| 2021-01-23T17:37:26 |
{"mesh": ["D016108"], "omim": ["226600"], "icd-10": ["Q81.2"], "synonyms": ["Dystrophic epidermolysis bullosa inversa", "Inverse RDEB", "Inverse recessive dystrophic epidermolysis bullosa", "RDEB-I"]}
|
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.
Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).
Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.
## Frequency
Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the medical literature. Researchers differ as to whether these individuals have Bowen-Conradi syndrome or a similar but distinct disorder.
## Causes
Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus.
The particular EMG1 gene mutation known to cause Bowen-Conradi syndrome is thought to make the protein unstable, resulting in a decrease in the amount of EMG1 protein that is available in the nucleolus. A shortage of this protein in the nucleolus would impair ribosome production, which may reduce cell growth and division (proliferation); however, it is unknown how EMG1 gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.
### Learn more about the gene associated with Bowen-Conradi syndrome
* EMG1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Bowen-Conradi syndrome
|
c1859405
| 28,147 |
medlineplus
|
https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome/
| 2021-01-27T08:25:17 |
{"gard": ["5950"], "mesh": ["C537081"], "omim": ["211180"], "synonyms": []}
|
Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.
## Epidemiology
The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance (male-to-female ratio of 1.3:1).
## Clinical description
Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities, although abnormal EEG, sleep disorders and involvement of other facial muscles have occasionally been described. Spontaneous improvement with age is possible.
## Etiology
A locus has been identified at 9q13-q21 in a single four-generation British family. However, no linkage to this region was found in a second British family with the disease, indicating genetic heterogeneity.
## Genetic counseling
Inheritance is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hereditary geniospasm
|
c2931589
| 28,148 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53372
| 2021-01-23T18:39:23 |
{"gard": ["9501"], "mesh": ["C537682"], "omim": ["190100"], "umls": ["C2931589"], "icd-10": ["G25.3"], "synonyms": ["Familial trembling of the chin", "Hereditary chin myoclonus", "Hereditary chin-trembling"]}
|
A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Catastrophic antiphospholipid syndrome
|
c3662487
| 28,149 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464343
| 2021-01-23T18:53:18 |
{"icd-10": ["D68.6"], "synonyms": ["CAPS", "Catastrophic APS"]}
|
A number sign (#) is used with this entry because of evidence that benign familial neonatal seizures-1 (BFNS1) is caused by heterozygous mutation in the KCNQ2 gene (602235) on chromosome 20q13.
Some patients with KCNQ2 mutations develop severe early infantile epileptic encephalopathy (EIEE7; 613720).
Description
Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset.
Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
### Genetic Heterogeneity of Benign Familial Neonatal Seizures
See also BFNS2 (121201), which is caused by mutation in the KCNQ3 gene (602232) on chromosome 8q24, and BFNS3 (608217), which has been associated with a pericentric inversion on chromosome 5. See 269720 for a possible autosomal recessive form.
Clinical Features
Rett and Teubel (1964) and Bjerre and Corelius (1968) reported families in which multiple persons had neonatal convulsions that cleared spontaneously after a few weeks and were followed by normal psychomotor development. Inheritance was autosomal dominant. Pyridoxine dependency was excluded in all. Zimprich et al. (2006) provided follow-up of the original family reported by Rett and Teubel (1964). There were 9 affected individuals spanning 4 generations. The 2 index patients had their first seizures on the third day of life. Seizures recurred 15 to 20 times daily for the first few weeks and then remitted. Seizures started uniformly with brief generalized tonic posturing and cyanosis followed by a generalized clonic phase including facial and ocular manifestations. Unilateral or focal features were not observed, and 9 of 10 seizures occurred during sleep. Later in childhood, 3 of the 9 affected individuals developed nocturnal generalized tonic-clonic seizures; 2 of the 3 also had simple focal orofacial seizures.
In the case reported by Carton (1978), strong paroxysmal fetal movements were perceived during the last 2 months of pregnancy, possibly indicating intrauterine convulsions. Herranz and Arce (1979) reported 13 affected persons in 5 generations of a family. No convulsions occurred after the 40th day of life, and development in all but one was normal.
Pettit and Fenichel (1980) reported a family with 5 affected members. One patient died during a cyanotic spell, and the remainder were developmentally and neurologically normal, although 3 continued to have seizure disorders as adults. Tibbles (1980) described 3 families with benign neonatal seizures with male-to-male transmission in 2 of them. Tibbles (1980) suggested that persons with this disorder have an increased risk of the later development of epilepsy. Dobrescu and Larbrisseau (1982) described a family with 12 affected members in 3 generations.
Zonana et al. (1984) reported a family with 6 affected individuals in 3 generations. Analysis of the clinical features of their family and of 15 previously reported families (116 patients total) revealed a typical clinical phenotype with onset of seizures by 2 to 8 days of life and cessation of seizures by 1 to 6 months. Long-term neurodevelopmental outcome was normal, except for an increased rate (11%) of subsequent seizures in childhood or adulthood. Cunniff et al. (1988) described a family with 8 affected persons in 2 generations.
Ryan et al. (1991) reported an affected family with a variable phenotype: seizures frequently did not remit until 6 to 24 months; febrile convulsions occurred in at least 2 patients; apparent audiogenic seizures occurred in 4 patients; and 1 individual had refractory epilepsy until late adolescence. The family showed linkage to chromosome 20q.
On the basis of a kindred with 69 affected individuals, Ronen et al. (1993) defined the seizure characteristics in chromosome 20-linked BFNC. Seizure onset occurred on day 3 in 42%, and remission took place in 68% during the first 6 weeks. Seizures were brief and of a mixed type, starting with tonic posture, ocular symptoms, apnea, and other autonomic features. The seizure often progressed to clonic movements and motor automatisms. The postictal state was brief, and interictally the neonates looked well. The ictal EEG pattern showed with generalized suppression of amplitude on onset. Neurocognitive outcome was usually normal, but the risk for subsequent epilepsy was 16%. Most of the later epilepsy was generalized tonic or tonic-clonic, and some seizures were provoked, raising the possibility of an unusual form of reflex epilepsy.
In a large family in which 13 individuals had benign neonatal convulsions, Berkovic et al. (1994) found that 10 patients had neonatal seizures and 4 had febrile seizures, including 2 without neonatal convulsions. Two individuals had afebrile seizures later, 1 of whom had not previously demonstrated neonatal or febrile seizures. Three obligate carriers had no known seizures. The authors emphasized the phenotypic heterogeneity.
### Benign Familial Neonatal Seizures 1 and/or Myokymia
Dedek et al. (2001) reported a German family in which twin sisters had BFNS. Both later had grand mal seizures at ages 2 and 12 to 13 years, some of which were associated with fever. Both complained about exercise-induced myalgia in preschool, but this resolved by adolescence. Both girls also developed myokymia later in childhood, characterized by involuntary movements of the limbs, fingers, and toes, and spontaneous repetitive discharges on EMG. Both had mild learning disabilities. A half-sister had recurrent neonatal convulsions with tonic and/or clonic limb movements in infancy. Myokymia became apparent at age 3 years. A son of 1 of the twins had neonatal convulsions without neurologic abnormalities or myokymia at age 1 year. However, EMG showed spontaneous discharges of grouped motor unit potentials, consistent with myokymic discharges. Inheritance was autosomal dominant.
Wuttke et al. (2007) reported a 25-year-old Egyptian man with isolated myokymia and no history of neonatal seizures. There was no family history of epilepsy or peripheral nerve hyperexcitability. Clinically, the patient had had permanent muscle overactivity in the distal upper extremities and small amplitude movements of the fingers, which were not disabling. However, he also reported exercise-induced cramps of both hands since childhood and 4 episodes of exercise-induced generalized muscle stiffness. EMG showed spontaneous irregular discharges consistent with myokymia. He showed a favorable response to treatment with retigabine.
Mapping
By linkage to RFLP markers, Leppert et al. (1989) demonstrated that a gene for benign neonatal seizures is located on chromosome 20. Malafosse et al. (1992) confirmed the assignment to 20q by demonstrating linkage to D20S19 and D20S20 in 6 French pedigrees. In the families studied, there were several cases of febrile convulsions. Malafosse et al. (1992) concluded that different susceptibility genes are responsible for febrile convulsions and benign neonatal seizures. Steinlein et al. (1992) pointed out that BFNS is in the same region of chromosome 20 (20q13.2-q13.3) as EEGV1 (130180) and Fanconi anemia (FA; 227650) because all 3 loci are linked to the VNTR marker CMM6 (D20S19).
In a family with a heterogeneous phenotype of neonatal seizures, Berkovic et al. (1994) demonstrated linkage to chromosome 20q (maximum lod score of 3.13 at markers CMM6 and RMR6).
Molecular Genetics
In affected members of the family reported by Berkovic et al. (1994), Biervert et al. (1998) identified a heterozygous truncating mutation in the KCNQ2 gene (602235.0003). One mutation carrier was unaffected, consistent with reduced penetrance.
In affected members from 6 families with BFNS, Singh et al. (1998) identified 6 different mutations in the KCNQ2 gene (see, e.g., 602235.0001-602235.0002).
In affected members of a German family with familial neonatal convulsions followed by myokymia, Dedek et al. (2001) identified a heterozygous mutation in the KCNQ2 gene (R207W; 602235.0006). One of the patients had isolated myokymia without seizures. Dedek et al. (2001) noted that 1 of the main pathophysiologic mechanisms of peripheral nerve hyperexcitability in myokymia is suppression of outward potassium currents (Lee et al., 1998).
In a patient with isolated myokymia, Wuttke et al. (2007) identified a heterozygous mutation in the KCNQ2 gene (R207Q; 602235.0011).
In affected members of the original BFNS1 family reported by Rett and Teubel (1964), Zimprich et al. (2006) identified a heterozygous mutation in the KCNQ2 gene (602235.0010).
Heron et al. (2007) identified 3 deletions and 1 duplication of more than 1 exon of the KCNQ2 gene in 4 (44%) of 9 unrelated families with benign familial neonatal seizures who had previously tested negative for coding or splice site mutations. The changes were predicted to result in haploinsufficiency. The authors suggested that multiplex ligation-dependent probe amplification (MLPA) should be a second-tier testing strategy in candidate cases.
Cytogenetics
Using multiplex ligation-dependent probe amplification (MLPA) and FISH analysis, Kurahashi et al. (2009) identified heterozygous multiple exonic deletions involving the KCNQ2 gene in 4 of 22 probands with BFNS1. The deletions segregated within families, and the phenotypes were typical of BFNS1. In 2 families, the respective 136.4- and 171.8-kb deletions also involved the CHRNA4 gene (118504), which is centromeric to the KCNQ2 gene. The phenotype in these 2 families was indistinguishable from those with deletions of KCNQ2 only, and none of these patients showed signs of nocturnal frontal lobe epilepsy (600513), which is caused by mutation in the CHRNA4 gene. The findings indicated that haploinsufficiency of KCNQ2 is the underlying mechanism of autosomal dominant BFNS1.
History
Beck et al. (1994) noted that the CHRNA4 gene (118504) maps to the same region of 20q as the locus for BFNS1, which they referred to as 'EBN1.' They claimed to have detected a nonsense mutation in the CHRNA4 gene that cosegregated with the disorder, but this appears to have been in error because a considerable number of mutations in the KCNQ2 gene have been identified in BFNS1.
Zimprich et al. (2006) provided a historical perspective of the work of Andreas Rett (1924-1997), a pediatric neurologist and social reformer in postwar Austria, who first described BFNC and later delineated Rett syndrome (312750).
INHERITANCE \- Autosomal dominant RESPIRATORY \- Apnea during seizures NEUROLOGIC Central Nervous System \- Seizures, afebrile \- Focal clonic seizures \- Generalized tonic-clonic seizures \- Start with tonic posturing \- Motor automatisms \- Febrile seizures may occur \- Increased risk of seizures in childhood or adulthood (11-16%) \- Normal psychomotor development \- Epileptic encephalopathy with psychomotor retardation (rare) \- Drug-resistent seizures (rare) \- Myokymia \- Finger twitching \- EMG with spontaneous discharge of normal motor unit potentials MISCELLANEOUS \- Onset of seizures at 2-8 days of life \- Most remit by 6 weeks (1-6 months) \- Variable phenotype \- Some patients may have isolated myokymia \- Genetic heterogeneity (see EBN2 121201 , EBN3 608217 ) \- An autosomal recessive form has been reported ( 269720 ) MOLECULAR BASIS \- Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 2 gene (KCNQ2, 602235.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
c0220669
| 28,150 |
omim
|
https://www.omim.org/entry/121200
| 2019-09-22T16:43:05 |
{"doid": ["14264"], "mesh": ["D020936"], "omim": ["121200"], "orphanet": ["1949"], "genereviews": ["NBK32534"]}
|
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 4H is caused by mutations in the gene encoding frabin (FGD4; 611104), which is a guanine nucleotide exchange factor (GEF) for the Rho GTPase cell division cycle-42 (CDC42; 116952).
For a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).
Clinical Features
De Sandre-Giovannoli et al. (2005) reported a total of 10 individuals from 2 families, 1 Lebanese and 1 Algerian, with a severe form of CMT. Onset occurred within the first 2 years of life and was manifested by delayed walking, unsteady gait, areflexia, scoliosis, and foot abnormalities, including pes cavus and pes equinus. Two members of the Lebanese family had upper limb involvement with thenar and hypothenar hypoplasia. Electrophysiologic studies showed severely reduced motor and sensory nerve conduction velocities, consistent with a demyelinating process. Sural nerve biopsy of 1 member of the Lebanese family showed severe loss of myelinated fibers, as well as some features of congenital hypomyelination and occasional onion bulb formations. The Algerian family was consanguineous, suggesting autosomal recessive inheritance.
Houlden et al. (2009) reported 2 sibs with CMT4H confirmed by genetic analysis (R275X; 611104.0006). Although both patients had onset of walking difficulties in childhood, there was slow progression of the disorder, and both remained ambulatory into middle age. At age 58, the proband had pes cavus, distal muscle weakness and atrophy, areflexia, stocking and glove sensory loss, and pupil size asymmetry. Her brother had a similar phenotype. Nerve conduction velocities were significantly decreased. Houlden et al. (2009) noted that the phenotype was relatively mild compared to patients with other FGD4 mutations.
Fabrizi et al. (2009) reported a 20-year-old woman, born of consanguineous Italian parents, with CMT4H confirmed by genetic analysis (611104.0007). The patient was from a small mountain village in northeast Italy. She had a clumsy gait since childhood, steppage gait, pes equinovarus, lower limb areflexia, and mild distal sensory loss. She also had scoliosis and hypotrophy of thenar and hypothenar muscles. Pathologic and electrophysiologic studies showed a demyelinating neuropathy. There was slow disease progression.
Mapping
In 2 unrelated families with severe early-onset demyelinating CMT, De Sandre-Giovannoli et al. (2005) found linkage of the disorder, designated CMT4H, to an 11.5-cM region on chromosome 12p11.21-q13.11 between markers D12S1648 and D12S1661 (maximum pairwise lod score of 6.97 at D12S345). Mutation analysis excluded peripherin (PRPH; 170710) and contactin-1 (CNTN1; 600016) as candidate genes.
Molecular Genetics
In affected members of the Lebanese and Algerian families with CMT4H reported by De Sandre-Giovannoli et al. (2005), Delague et al. (2007) identified 2 different homozygous mutations in the FGD4 gene (611104.0002; 611104.0005). Stendel et al. (2007) also demonstrated that Charcot-Marie-Tooth disease type 4H is caused by mutations in the FGD4 gene. The results, including a demonstration of the ability of frabin to induce CDC42-mediated cell shape changes in transfected Schwann cells, suggested that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system.
INHERITANCE \- Autosomal recessive SKELETAL Spine \- Scoliosis Feet \- Pes cavus \- Pes equinus NEUROLOGIC Peripheral Nervous System \- Delayed motor development \- Distal lower limb muscle weakness due to peripheral neuropathy \- Distal lower limb muscle atrophy due to peripheral neuropathy \- Upper limb involvement may occur later \- 'Waddling' gait \- Distal sensory impairment \- Hyporeflexia \- Areflexia \- Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) \- Nerve biopsy shows demyelination/remyelination \- Nerve biopsy shows 'onion bulb' formations \- Nerve biopsy shows decreased number of myelinated fibers MISCELLANEOUS \- Onset before age 2 years \- Usually begins in feet and legs (peroneal distribution) \- Severe disorder \- Genetic heterogeneity (see CMT4A 214400 ) MOLECULAR BASIS \- Caused by mutation in the FYVE, RhoGEF, and PH domain-containing protein-4 gene (FGD4, 611104.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
|
c1836336
| 28,151 |
omim
|
https://www.omim.org/entry/609311
| 2019-09-22T16:06:17 |
{"doid": ["0110192"], "mesh": ["C563740"], "omim": ["609311"], "orphanet": ["99954"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H"], "genereviews": ["NBK1358", "NBK153601"]}
|
A number sign (#) is used with this entry because of evidence that Kleefstra syndrome-2 (KLEFS2) is caused by heterozygous mutation in the KMT2C gene (606833) on chromosome 7q36.
Description
Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).
For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (610253).
Clinical Features
Kleefstra et al. (2012) reported a girl with Kleefstra syndrome-2. She had delayed psychomotor development and a total IQ of 35, walked independently at age 19 months but never developed speech, and developed progressive hyperactivity and aggressiveness. Dysmorphic features included midface hypoplasia, synophrys, upward slanting palpebral fissures, anteverted lower lip, childhood hypotonia, brachycephaly, coarse facies, and hypertelorism. At age 15 she had short stature and mild microcephaly.
Koemans et al. (2017) reported 5 unrelated patients, ranging in age from 7 to 31 years, with KLEFS2. All patients had delayed psychomotor development with mild to severe intellectual disability, speech delay, and features of autism with variable behavioral problems. Three patients had childhood hypotonia, 2 had seizures, and 3 had scoliosis or kyphosis. Dysmorphic facial features were variable, but included flattened midface, prominent eyebrows, everted lower lip, and thick ear helices.
Faundes et al. (2018) reported 3 unrelated patients with severe intellectual disability associated with de novo heterozygous mutations in the KMT2C gene. The patients had global developmental delay apparent in early infancy, with intellectual disability, mildly delayed walking, and poor or absent speech. They had poor overall growth with borderline small head circumference. Dysmorphic facial features were variable, but included downslanting palpebral fissures, ptosis, arched eyebrows, high palate, short nose, and deep-set eyes. One patient had a duplicated thumb, another had hydrocephalus with Dandy-Walker malformation and hypoplasia of the cerebellar vermis, and a third showed developmental regression.
Molecular Genetics
In 4 of 9 EHMT1 (607001) mutation-negative patients with core features of Kleefstra syndrome-1 (KLEFS1; 610253) but otherwise heterogeneous phenotypes, Kleefstra et al. (2012) identified mutations in 4 functionally related genes, KMT2C (606833.0001), MBD5 (611472), SMARCB1 (601607), and NR1I3 (603881). All these genes encode epigenetic regulators. The KMT2C mutation was a de novo heterozygous truncating mutation.
In 5 additional patients with KLEFS2, Koemans et al. (2017) identified 4 different de novo heterozygous frameshift or truncating mutations in the KMT2C gene (606833.0002-606833.0005). The fifth patient had a de novo heterozygous 203-kb intragenic deletion in the KMT2C gene. All mutations were predicted to result in a loss of function, but specific functional studies of the variants and studies of patient cells were not performed. Studies in Drosophila indicated a common molecular basis of the neuropathology associated with mutations in EHMT1 (KLEFS1) and KMT2C (KLEFS2) (see ANIMAL MODEL).
Animal Model
Koemans et al. (2017) found that specific knockdown of 'trr,' the Drosophila ortholog of KMT2C, in the mushroom body of the fly brain resulted in impaired short-term memory. Immunoprecipitation studies showed that trr normally localizes in the nucleus of the mushroom body, and that it binds to the promoter of many genes involved in neuronal processes in the fly head. Transcriptional profiling of pan-neuronal trr knockdown and G9a (the ortholog of EHMT1; 607001) null mutant fly heads identified many misregulated genes in both scenarios; these gene sets showed significant overlap and were associated with nearly identical gene ontology enrichments. There were many common indirect target genes and several common direct target genes, including those involved in regulation of synaptic plasticity. The findings delineated the molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network involved in neurodevelopment.
INHERITANCE \- Autosomal dominant GROWTH Height \- Decreased height (in some patients) Other \- Poor growth HEAD & NECK Head \- Microcephaly, mild (up to -2 SD in some patients) Face \- Flattened midface \- Dysmorphic facial features, variable Ears \- Thick ear helices Eyes \- Prominent eyebrows Mouth \- Everted lower lip SKELETAL Spine \- Kyphosis \- Scoliosis MUSCLE, SOFT TISSUES \- Hypotonia (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability, mild to severe \- Speech delay \- Seizures (in some patients) Behavioral Psychiatric Manifestations \- Autistic features \- Behavioral abnormalities MISCELLANEOUS \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the lysine-specific methyltransferase 2C gene (KMT2C, 606833.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
KLEEFSTRA SYNDROME 2
|
c4540395
| 28,152 |
omim
|
https://www.omim.org/entry/617768
| 2019-09-22T15:44:51 |
{"omim": ["617768"], "orphanet": ["261652"], "synonyms": []}
|
## Inheritance
Weinberg (1909) suggested that hereditary twinning is transmitted only through the female line, applies only to dizygotic (DZ) twins, and is probably recessive. Observation of multiple births following use of pituitary gonadotropins suggests a pituitary mechanism for gene action (Milham, 1964).
Wyshak and White (1965) presented evidence, based on Mormon records, which they interpreted as supporting recessive inheritance. Among the children of female DZ twins, 17.1 twins per 1,000 maternities occurred as compared with 7.9 among children of male DZ twins. Female sibs of DZ twins had 17 per 1,000 twins, whereas male sibs had 13.1 per 1,000. Supposedly the gene is too frequent for one to expect increased consanguinity in the grandparents of dizygotic twins.
Taylor (1931) reported multiple sets of dizygotic twins in 4 generations. In the same family, mother and daughter did not menstruate until after their first pregnancies, at ages 20 and 22, respectively. The differentiation of multifactorial and monofactorial inheritance of twinning is difficult. Ethnic differences in the rate of dizygotic twinning is evidence of genetic factors. In interracial marriages the rate follows that of the mother's ethnic group. Furthermore, when the mother is a racial hybrid, the dizygotic twinning frequency is that of the race with the lower frequency (Morton et al., 1967).
The probability of a subsequent twin pregnancy is increased 4-fold in mothers of twins, and the risk of having dizygotic twins is roughly doubled for women whose mother or sister has dizygotic twins (Bulmer, 1970; Meulemans et al., 1996).
Meulemans et al. (1996) studied spontaneous dizygotic twinning in 1,422 3-generation pedigrees in a Flemish and Dutch population. The phenotype was consistent with an autosomal monogenic dominant model, with a gene frequency of 0.035 and a female-specific lifetime penetrance of 0.10. X-linked, recessive, polygenic, and sporadic models were rejected.
The frequency of twin deliveries varies among human populations. The highest twinning rates for Caucasian populations have been recorded on the archipelago of Aland and Aboland, in southwest Finland, whereas multiple deliveries in adjacent mainland areas are known to be rarer. Using data from the pre-industrial era (1752-1850), Lummaa et al. (1998) compared the lifetime reproductive success of mothers who had produced twins with that of mothers of singletons in these archipelago and mainland sites. When they restricted their analysis to mothers with a genetic tendency to produce twins, they found that lifetime reproductive success was maximized by having twins on the archipelago, but by having singleton offspring on the mainland. They considered this result to be consistent with the difference in twinning rate being maintained by natural selection. The 'profitability' of twinning would, in their model, depend on the level of resources. The model suggested that predictable resource levels favored the evolution of increased reproductive output. In the archipelago, the amount of food available had traditionally been relatively high and constant, with total crop failures being rare and with survival ensured by fishing. In poor mainland areas, on the other hand, crop failures and subsequent famines had been common throughout the centuries. The authors assumed that only dizygotic twinning has a genetic component (Parisi et al., 1983) and considered only the analysis of dizygotic twinning as relevant to evolution of the number of children produced at one time driven by natural selection. Results using only mothers with twins of different sexes confirmed the evolutionary inference.
Lewis et al. (1996) discussed a genetic basis of dizygotic twinning.
A curious feature of the biology of twinning is the possibly reduced cancer frequency among twins as compared to singly born individuals. This was reviewed for the incidence of cancer in children by Murphy et al. (2001) and in adults by Iversen et al. (2001).
Hoekstra et al. (2008) studied twinning and fertility in 8,222 and 5,505 women with spontaneous DZ and MZ offspring and 4,164 and 250 women with assisted reproduction techniques (ART) DZ and MZ twin pairs, respectively. Hoekstra et al. (2008) observed that women with spontaneous DZ twins more often reported female relatives with twins than those with spontaneous MZ twins. The proportion of DZ versus MZ twin offspring in relatives was also larger in women with spontaneous DZ offspring than in women with MZ offspring. The first group of women reported a shorter time to conceive. Hoekstra et al. (2008) did not observe that DZ twinning was more familial in women who had their twins before age 36 years compared to older women. Women with ART twins had fewer sibs and offspring and less often reported relatives with twins. Hoekstra et al. (2008) concluded that the mechanisms underlying spontaneous and nonspontaneous DZ twinning are different.
Mapping
Busjahn et al. (2000) found linkage of dizygotic twinning to the gene encoding peroxisome proliferator-activated receptor-gamma (PPARG; 601487). Linkage in 181 dizygotic twin pairs yielded a 6.93 lod score. They found, furthermore, that the PPARG C-to-T polymorphism (601487.0009) was far less common in monozygotic twins than in dizygotic twins. Dizygotic heterozygosity was less than expected and transmission disequilibrium test analysis gave further evidence for association. In dizygotic twins, the C-to-T substitution was not in Hardy-Weinberg equilibrium. In contrast, the pro12-to-ala PPARG polymorphism (601487.0002), which occurs in exon B and is found in the PPARG2 splice variant in white fat, was not in tight linkage disequilibrium and obeyed Hardy-Weinberg equilibrium. Twinning requires both multiple conceptions and intrauterine survival of both twins. 'Vanishing twins' result in the observation that about 40% of spontaneous dizygotic twin pregnancies result in singleton births. The authors suggested that intrauterine selection may be responsible for the Hardy-Weinberg deviation of the C-to-T substitution and that PPARG may be a gene involved in the intrauterine survival of dizygotic twins.
Duffy et al. (2001) were unable to replicate the findings of Busjahn et al. (2000) in 4 datasets of dizygotic twins, the combined dataset, or a dataset comprising mothers of twins. Duffy et al. (2001) found no evidence of linkage of the region around the PPARG locus to survival of dizygotic twins.
Natural multiple pregnancy in women leading to dizygotic twins is familial and varies across racial groups, suggesting a genetic predisposition. Mothers of DZ twins have a higher incidence of spontaneous multiple ovulation and elevated FSH (136530) concentrations. FSH release is controlled by feedback of inhibin peptides from the ovary, and immunization against inhibin alpha-subunit (INHA; 147380) results in an increased ovulation rate in animals (e.g., Hillard et al., 1995). The inhibin alpha-subunit is therefore a candidate gene for mutations that may increase the frequency of DZ twinning. Montgomery et al. (2000) examined the INHA locus for polymorphism and analyzed linkage to DZ twinning in women. Restriction digests of a PCR product from exon 1 with the enzyme SpeI detected a C/T polymorphism at bp 128 with 2 alleles of 447 and 323/124 bp. Montgomery et al. (2000) typed the polymorphism in 1,125 individuals from 326 pedigrees with 717 mothers of spontaneous DZ twins. The alpha-inhibin locus mapped within 3 centimorgans of D2S164, and linkage with DZ twinning was excluded (lod score of -2.81 at theta = 0). There was complete exclusion of linkage (lod less than -2) of a gene conferring relative risk 1.8 (lambdas, greater than 1.8) across the chromosome, except at the p-terminal region and a small peak (maximum lod score 0.6) in the region of D2S151-D2S326. Analysis using either recessive or dominant models excluded linkage with DZ twinning in this population (lod score, less than -2.5) across chromosome 2. The authors concluded that DZ twinning is not linked to variation in the alpha-inhibin locus. The authors also concluded that mutations in other candidates on chromosome 2, including the receptor for FSH and the beta-2-inhibin subunit (INHBB; 147390), cannot be major contributors to risk for DZ twinning.
Montgomery et al. (1993) mapped a gene responsible for multiple ovulation in sheep to a region of the sheep genome homologous to 4q in the human. Specifically, they showed that it was linked to markers in the region of 4q21-q25. Martin et al. (1984) described higher concentrations of follicle-stimulating hormone in mothers of dizygotic twins compared with mothers of single births, in agreement with results in the sheep for ewes carrying the Booroola fecundity gene (FECB; 134720).
Duffy et al. (2001) applied nonparametric affected sib pair methods for linkage analysis to the study of 169 pairs and 17 sets of 3 sisters (trios) who had each had spontaneous DZ twins, mostly before the age of 35. Exclusion of markers in the region 4q21-q25 led them to conclude that if there is a gene influencing DZ twinning on chromosome 4, its effect must be minor.
Derom et al. (2006) failed to identify positive lod scores greater than 2 in a genomewide linkage analysis of 14 Flemish families with 57 mothers of spontaneous dizygotic twins. The families were ascertained from the study of Meulemans et al. (1996).
Mbarek et al. (2016) performed a genomewide association study in 1,980 mothers of spontaneous DZ twins and 12,953 controls and identified significant association with 2 SNPs: rs11031006, located 5-prime of the FSHB start site on chromosome 11p13 (p = 1.54 x 10(-9)), and rs17293443, within the first intron of SMAD3 on chromosome 15q22 (p = 1.57 x 10(-8)). These findings were replicated in a large Icelandic cohort involving 3,597 mothers of twins and 297,348 controls (p = 3 x 10(-3) and p = 1.44 x 10(-4), respectively). Based on approximately 90,000 births in Iceland between 1950 and 1991, Mbarek et al. (2016) estimated that the risk of a twin birth increased by 18% for each maternal rs11031006 'G' allele and by 9% for each rs17293443 'C' allele. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the reuslts of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). The G allele of rs11031006 was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower risk of polycystic ovary syndrome, and earlier age at menopause. Conversely, the C allele of rs17293443 was associated with later age at last child.
See 136435 for a discussion of a possible association between dizygotic twinning and polymorphism in the follicle-stimulating hormone receptor (FSHR).
Misc \- Dizygotic twinning \- Female line transmission Inheritance \- Autosomal recessive vs. multifactorial ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
TWINNING, DIZYGOTIC
|
c0220761
| 28,153 |
omim
|
https://www.omim.org/entry/276400
| 2019-09-22T16:21:28 |
{"omim": ["276400"]}
|
Vascular anomaly
See also: Cerebral arteriovenous malformation
Arteriovenous malformation
Other namesAVM
Micrograph of an arteriovenous malformation in the brain. HPS stain.
SpecialtyNeurosurgery
Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary system. This vascular anomaly is widely known because of its occurrence in the central nervous system (usually cerebral AVM), but can appear in any location. Although many AVMs are asymptomatic, they can cause intense pain or bleeding or lead to other serious medical problems.
AVMs are usually congenital and belong to the RASopathies. The genetic transmission patterns of AVMs are incomplete, but there are known genetic mutations (for instance in the epithelial line, tumor suppressor PTEN gene) which can lead to an increased occurrence throughout the body.
## Contents
* 1 Signs and symptoms
* 1.1 Pulmonary arteriovenous malformations
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 Notable cases
* 9 Research
* 10 See also
* 11 References
## Signs and symptoms[edit]
Symptoms of AVM vary according to the location of the malformation. Roughly 88%[1] of people with an AVM are asymptomatic; often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (called in medicine an "incidental finding"); in rare cases, its expansion or a micro-bleed from an AVM in the brain can cause epilepsy, neurological deficit, or pain.
The most general symptoms of a cerebral AVM include headaches and epileptic seizures, with more specific symptoms occurring that normally depend on the location of the malformation and the individual. Such possible symptoms include:[2]
* Difficulties with movement coordination, including muscle weakness and even paralysis;
* Vertigo (dizziness);
* Difficulties of speech (dysarthria) and communication, such as aphasia;
* Difficulties with everyday activities, such as apraxia;
* Abnormal sensations (numbness, tingling, or spontaneous pain);
* Memory and thought-related problems, such as confusion, dementia or hallucinations.
Cerebral AVMs may present themselves in a number of different ways:
* Bleeding (45% of cases)
* Acute onset of severe headache. May be described as the worst headache of the patient's life. Depending on the location of bleeding, may be associated with new fixed neurologic deficit. In unruptured brain AVMs, the risk of spontaneous bleeding may be as low as 1% per year. After a first rupture, the annual bleeding risk may increase to more than 5%.[3]
* Seizure or brain seizure (46%) Depending on the place of the AVM, it can cause loss of vision in one place.
* Headache (34%)
* Progressive neurologic deficit (21%)
* May be caused by mass effect or venous dilatations. Presence and nature of the deficit depend on location of lesion and the draining veins.[4]
* Pediatric patients
* Heart failure
* Macrocephaly
* Prominent scalp veins
### Pulmonary arteriovenous malformations[edit]
Pulmonary arteriovenous malformations are abnormal communications between the veins and arteries of the pulmonary circulation, leading to a right-to-left blood shunt.[5][6] They have no symptoms in up to 29% of all cases,[7] however they can give rise to serious complications including hemorrhage, and infection.[5] They are most commonly associated with hereditary hemorrhagic telangiectasia.[6]
## Genetics[edit]
Can occur due to autosomal dominant diseases, such as hereditary hemorrhagic telangiectasia.[citation needed]
## Pathophysiology[edit]
Arteries and veins are part of the vascular system. Arteries carry blood away from the heart to the lungs or the rest of the body, where the blood passes through capillaries, and veins return the blood to the heart. An AVM interferes with this process by forming a direct connection of the arteries and veins. AVMs can cause intense pain and lead to serious medical problems. Although AVMs are often associated with the brain and spinal cord, they can develop in any part of the body.
Normally, the arteries in the vascular system carry oxygen-rich blood, except in the case of the pulmonary artery. Structurally, arteries divide and sub-divide repeatedly, eventually forming a sponge-like capillary bed. Blood moves through the capillaries, giving up oxygen and taking up waste products, including CO
2, from the surrounding cells. Capillaries in turn successively join together to form veins that carry blood away. The heart acts to pump blood through arteries and uptake the venous blood.
As an AVM lacks the dampening effect of capillaries on the blood flow, the AVM can get progressively larger over time as the amount of blood flowing through it increases, forcing the heart to work harder to keep up with the extra blood flow. It also causes the surrounding area to be deprived of the functions of the capillaries—removal of CO
2 and delivery of nutrients to the cells. The resulting tangle of blood vessels, often called a nidus (Latin for "nest"), has no capillaries. It can be extremely fragile and prone to bleeding because of the abnormally direct connections between high-pressure arteries and low-pressure veins. The resultant sign, audible via stethoscope, is a rhythmic, whooshing sound caused by excessively rapid blood flow through the arteries and veins. It has been given the term "bruit", French for noise. On some occasions, a patient with a brain AVM may become aware of the noise, which can compromise hearing and interfere with sleep in addition to causing psychological distress.
## Diagnosis[edit]
An arterial venous malformation of the left kidney and a simple cyst of the right kidney
An arterial venous malformation of the left kidney leading to aneurysmal dilatation of the left renal vein and inferior vena cava
AVMs are diagnosed primarily by the following imaging methods:
* Computerized tomography (CT) scan is a noninvasive X-ray to view the anatomical structures within the brain to detect blood in or around the brain. A newer technology called CT angiography involves the injection of contrast into the blood stream to view the arteries of the brain. This type of test provides the best pictures of blood vessels through angiography and soft tissues through CT.
* Magnetic resonance imaging (MRI) scan is a noninvasive test, which uses a magnetic field and radio-frequency waves to give a detailed view of the soft tissues of the brain.
* Magnetic resonance angiography (MRA) – scans created using magnetic resonance imaging to specifically image the blood vessels and structures of the brain. A magnetic resonance angiogram can be an invasive procedure, involving the introduction of contrast dyes (e.g., gadolinium MR contrast agents) into the vasculature of a patient using a catheter inserted into an artery and passed through the blood vessels to the brain. Once the catheter is in place, the contrast dye is injected into the bloodstream and the MR images are taken. Additionally or alternatively, flow-dependent or other contrast-free magnetic resonance imaging techniques can be used to determine the location and other properties of the vasculature.
AVMs can occur in various parts of the body:
* brain (cerebral AV malformation)
* spleen[8]
* lung[9][10]
* kidney[11]
* spinal cord[12]
* liver[13]
* intercostal space[14]
* iris[15]
* spermatic cord[16]
* extremities – arm, shoulder, etc.
AVMs may occur in isolation or as a part of another disease (for example, Von Hippel-Lindau disease or hereditary hemorrhagic telangiectasia).
AVMs have been shown to be associated with aortic stenosis.[17]
Bleeding from an AVM can be relatively mild or devastating. It can cause severe and less often fatal strokes. If a cerebral AVM is detected before a stroke occurs, usually the arteries feeding blood into the nidus can be closed off to avert the danger. However, interventional therapy may also be relatively risky.
## Treatment[edit]
Treatment for brain AVMs can be symptomatic, and patients should be followed by a neurologist for any seizures, headaches, or focal neurologic deficits. AVM-specific treatment may also involve endovascular embolization, neurosurgery or radiosurgery.[2] Embolization, that is, cutting off the blood supply to the AVM with coils, particles, acrylates, or polymers introduced by a radiographically guided catheter, may be used in addition to neurosurgery or radiosurgery, but is rarely successful in isolation except in smaller AVMs.[18] Gamma knife may also be used.[19]
Treatment of lung AVMs is typically performed with endovascular embolization alone, which is considered the standard of care. [20]
## Epidemiology[edit]
The estimated detection rate of AVM in the US general population is 1.4/100,000 per year.[21] This is approximately one fifth to one seventh the incidence of intracranial aneurysms. An estimated 300,000 Americans have AVMs, of whom 12% (approximately 36,000) will exhibit symptoms of greatly varying severity.[2]
## History[edit]
Luschka (1820–1875) and Virchow (1821–1902) first described arteriovenous malformations in the mid-1800s. Olivecrona (1891–1980) performed the first surgical excision of an intracranial AVM in 1932.
## Notable cases[edit]
* Indonesian actress Egidia Savitri [id] died from complications of AVM on November 29, 2013.[22]
* Phoenix Suns point guard AJ Price nearly died from AVM in 2004 while a student at the University of Connecticut.
* On December 13, 2006, Senator Tim Johnson of South Dakota was diagnosed with AVM and treated at George Washington University Hospital.[23]
* On August 3, 2011, Mike Patterson of the Philadelphia Eagles collapsed on the field and suffered a seizure during a practice, leading to him being diagnosed with AVM.[24]
* Actor Ricardo Montalbán was born with spinal AVM.[25] During the filming of the 1951 film Across the Wide Missouri, Montalbán was thrown from his horse, knocked unconscious, and trampled by another horse which aggravated his AVM and resulted in a painful back injury that never healed. The pain increased as he aged, and in 1993, Montalbán underwent 9½ hours of spinal surgery which left him paralyzed below the waist and using a wheelchair.[26]
* Actor/comedian T. J. Miller was diagnosed with AVM after filming Yogi Bear in New Zealand in 2010; Miller described his experience with the disease on the Pete Holmes podcast You Made It Weird on October 28, 2011, shedding his comedian side for a moment and becoming more philosophical, narrating his behaviors and inability to sleep during that time. He suffered a seizure upon return to Los Angeles and successfully underwent surgery that had a mortality rate of ten percent.[27]
* Jazz guitarist Pat Martino experienced an AVM and subsequently developed amnesia and manic depression. He eventually re-learned to play the guitar by listening to his own recordings from before the aneurysm. He still records and performs to this day.[28]
* YouTube vlogger Nikki Lilly (Nikki Christou), winner of the 2016 season of Junior Bake Off was born with AVM, which has resulted in some facial disfigurement.[29]
* Composer and lyricist William Finn was diagnosed with AVM and underwent Gamma Knife surgery in September 1992, soon after he won the 1992 Tony Award for best musical, awarded to "Falsettos". [30] Finn wrote the 1998 Off-Broadway musical A New Brain about the experience.
* Former Florida Gators and Oakland Raiders linebacker Neiron Ball was diagnosed with AVM in 2011 while playing for Florida, but recovered and was cleared to play. On September 16, 2018, Ball was placed in a medically induced coma due to complications of the disease, which lasted until his death on September 10, 2019.[31]
* Country music singer Drake White was diagnosed with AVM in January 2019, and is undergoing treatment.
## Research[edit]
Despite many years of research, the central question of whether to treat AVMs has not been answered. All treatments, whether involving surgery, radiation, or drugs, have risks and side-effects. Therefore, it might be better in some cases to avoid treatment altogether and simply accept a small risk of coming to harm from the AVM itself. This question is currently being addressed in clinical trials.[32]
## See also[edit]
* Foix–Alajouanine syndrome
* Haemangioma
* Klippel–Trénaunay syndrome
* Parkes Weber syndrome
## References[edit]
1. ^ "National Institute of Neurological Disorders and Stroke". nih.gov. Retrieved 17 March 2018.
2. ^ a b c Arteriovenous Malformation Information Page at NINDS
3. ^ Stapf, C.; Mast, H.; Sciacca, R. R.; Choi, J. H.; Khaw, A. V.; Connolly, E. S.; Pile-Spellman, J.; Mohr, J. P. (2006). "Predictors of hemorrhage in patients with untreated brain arteriovenous malformation". Neurology. 66 (9): 1350–5. doi:10.1212/01.wnl.0000210524.68507.87. PMID 16682666.
4. ^ Choi, J.H.; Mast, H.; Hartmann, A.; Marshall, R.S.; Pile-Spellman, J.; Mohr, J.P.; Stapf, C. (2009). "Clinical and morphological determinants of focal neurological deficits in patients with unruptured brain arteriovenous malformation". Journal of the Neurological Sciences. 287 (1–2): 126–30. doi:10.1016/j.jns.2009.08.011. PMC 2783734. PMID 19729171.
5. ^ a b Reichert, M; Kerber, S; Alkoudmani, I; Bodner, J (April 2016). "Management of a solitary pulmonary arteriovenous malformation by video-assisted thoracoscopic surgery and anatomic lingula resection: video and review". Surgical Endoscopy. 30 (4): 1667–9. doi:10.1007/s00464-015-4337-0. PMID 26156615.
6. ^ a b Tellapuri, S; Park, HS; Kalva, SP (August 2019). "Pulmonary arteriovenous malformations". The international journal of cardiovascular imaging. 35 (8): 1421–1428. doi:10.1007/s10554-018-1479-x. PMID 30386957.
7. ^ Goodenberger DM (2008). "Chapter 84 Pulmonary arteriovenous malformations". Fishman's Pulmonary Diseases and Disorders (4th ed.). McGraw-Hill. p. 1470. ISBN 978-0-07-145739-2.
8. ^ Agrawal, Aditya; Whitehouse, Richard; Johnson, Robert W.; Augustine, Titus (2006). "Giant splenic artery aneurysm associated with arteriovenous malformation". Journal of Vascular Surgery. 44 (6): 1345–9. doi:10.1016/j.jvs.2006.06.049. PMID 17145440.
9. ^ Chowdhury, Ujjwal K.; Kothari, Shyam S.; Bishnoi, Arvind K.; Gupta, Ruchika; Mittal, Chander M.; Reddy, Srikrishna (2009). "Successful Lobectomy for Pulmonary Arteriovenous Malformation Causing Recurrent Massive Haemoptysis". Heart, Lung and Circulation. 18 (2): 135–9. doi:10.1016/j.hlc.2007.11.142. PMID 18294908.
10. ^ Cusumano, Lucas R.; Duckwiler, Gary R.; Roberts, Dustin G.; McWilliams, Justin P. (2019-08-30). "Treatment of Recurrent Pulmonary Arteriovenous Malformations: Comparison of Proximal Versus Distal Embolization Technique". Cardiovascular and Interventional Radiology. doi:10.1007/s00270-019-02328-0. ISSN 1432-086X. PMID 31471718.
11. ^ Barley, Fay L.; Kessel, David; Nicholson, Tony; Robertson, Iain (2006). "Selective Embolization of Large Symptomatic Iatrogenic Renal Transplant Arteriovenous Fistula". CardioVascular and Interventional Radiology. 29 (6): 1084–7. doi:10.1007/s00270-005-0265-z. PMID 16794894.
12. ^ Kishi, K; Shirai, S; Sonomura, T; Sato, M (2005). "Selective conformal radiotherapy for arteriovenous malformation involving the spinal cord". The British Journal of Radiology. 78 (927): 252–4. doi:10.1259/bjr/50653404. PMID 15730991.
13. ^ Bauer, Tilman; Britton, Peter; Lomas, David; Wight, Derek G.D.; Friend, Peter J.; Alexander, Graeme J.M. (1995). "Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia". Journal of Hepatology. 22 (5): 586–90. doi:10.1016/0168-8278(95)80455-2. PMID 7650340.
14. ^ Rivera, Peter P.; Kole, Max K.; Pelz, David M.; Gulka, Irene B.; McKenzie, F. Neil; Lownie, Stephen P. (2006). "Congenital Intercostal Arteriovenous Malformation". American Journal of Roentgenology. 187 (5): W503–6. doi:10.2214/AJR.05.0367. PMID 17056881.
15. ^ Shields, Jerry A.; Streicher, Theodor F. E.; Spirkova, Jane H. J.; Stubna, Michal; Shields, Carol L. (2006). "Arteriovenous Malformation of the Iris in 14 Cases". Archives of Ophthalmology. 124 (3): 370–5. doi:10.1001/archopht.124.3.370. PMID 16534057.
16. ^ Sountoulides, Petros; Bantis, Athanasios; Asouhidou, Irene; Aggelonidou, Hellen (2007). "Arteriovenous malformation of the spermatic cord as the cause of acute scrotal pain: a case report". Journal of Medical Case Reports. 1: 110. doi:10.1186/1752-1947-1-110. PMC 2194703. PMID 17939869.
17. ^ Batur, Pelin; Stewart, William J.; Isaacson, J. Harry (2003). "Increased Prevalence of Aortic Stenosis in Patients With Arteriovenous Malformations of the Gastrointestinal Tract in Heyde Syndrome". Archives of Internal Medicine. 163 (15): 1821–4. doi:10.1001/archinte.163.15.1821. PMID 12912718.
18. ^ Jafar, Jafar J.; Davis, Adam J.; Berenstein, Alejandro; Choi, In Sup; Kupersmith, Mark J. (1993-01-01). "The effect of embolization with N-butyl cyanoacrylate prior to surgical resection of cerebral arteriovenous malformations". Journal of Neurosurgery. 78 (1): 60–69. doi:10.3171/jns.1993.78.1.0060. ISSN 0022-3085. PMID 8416244.
19. ^ "Conditions We Treat". Macquarie University Hospital. Archived from the original on 2013-06-13.
20. ^ Cusumano, Lucas R.; Duckwiler, Gary R.; Roberts, Dustin G.; McWilliams, Justin P. (2019-08-30). "Treatment of Recurrent Pulmonary Arteriovenous Malformations: Comparison of Proximal Versus Distal Embolization Technique". Cardiovascular and Interventional Radiology. doi:10.1007/s00270-019-02328-0. ISSN 1432-086X. PMID 31471718.
21. ^ Stapf, C.; Mast, H.; Sciacca, R.R.; Berenstein, A.; Nelson, P.K.; Gobin, Y.P.; Pile-Spellman, J.; Mohr, J.P. (2003). "The New York Islands AVM Study: Design, Study Progress, and Initial Results". Stroke. 34 (5): e29–33. doi:10.1161/01.STR.0000068784.36838.19. PMID 12690217.
22. ^ Suhendra, Ichsan. "Pesinetron Egidia Savitri Telah Pergi". KOMPAS.com (in Indonesian). Kompas Cyber Media. Retrieved 15 May 2019.
23. ^ "Sen. Johnson recovering after brain surgery". AP. December 14, 2006.
24. ^ "Mike Patterson's Collapse Reportedly Related To Brain AVM". sbnation.com. 2011-08-04. Retrieved 17 March 2018.
25. ^ "Ricardo Montalban tribute" YouTube, acceptance speech video of Easter Seals Lifetime Achievement Award
26. ^ "Inside". mahalo.com. Retrieved 17 March 2018.
27. ^ Pete Holmes (October 27, 2011). "You Made It Weird with Pete Holmes". You Made It Weird #2: TJ Miller (Podcast). Nerdist Industries. Event occurs at 37:45. Archived from the original on February 12, 2013. Retrieved December 5, 2012.
28. ^ Vida, Vendela. Confidence, or the Appearance of Confidence: The Best of the Believer Music Interviews. No ed. San Francisco, Calif.: Believer, a Tiny Division of McSweeney's Which Is Also Tiny, 2014. Print.
29. ^ "Junior Bake Off 2016 Winner announced". BBC Media Centre. BBC Online. 25 November 2016. Retrieved 9 April 2017.
30. ^ Pall, Ellen (14 June 1998). "The Long-Running Musical of William Finn's Life". The New York Times. Retrieved 17 March 2018.
31. ^ "Neiron Ball, former Raiders LB, in medically induced coma after aneurysm". ESPN. September 26, 2018.
32. ^ Research trials in arterio-venous malformations; Rustam Al-Shahi Salman Archived February 17, 2012, at the Wayback Machine
Classification
D
* ICD-10: Q27.3, Q28.0, Q28.2, I77.0, I25.4
* ICD-9-CM: 747.6, 747.81
* MeSH: D001165
* DiseasesDB: 15235
External resources
* MedlinePlus: 000779
* eMedicine: search/Arteriovenous%20Malformation
* v
* t
* e
Congenital vascular defects / Vascular malformation
Great arteries/
other arteries
Aorta
* Patent ductus arteriosus
* Coarctation of the aorta
* Interrupted aortic arch
* Double aortic arch
* Right-sided aortic arch
* Overriding aorta
* Aneurysm of sinus of Valsalva
* Vascular ring
Pulmonary artery
* Pulmonary atresia
* Stenosis of pulmonary artery
Subclavian artery
* Aberrant subclavian artery
Umbilical artery
* Single umbilical artery
Great veins
Superior/inferior vena cava
* Congenital stenosis of vena cava
* Persistent left superior vena cava
Pulmonary vein
* Anomalous pulmonary venous connection (Total, Partial)
* Scimitar syndrome
Arteriovenous malformation
* Cerebral arteriovenous malformation
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Arteriovenous malformation
|
c0003857
| 28,154 |
wikipedia
|
https://en.wikipedia.org/wiki/Arteriovenous_malformation
| 2021-01-18T18:28:48 |
{"mesh": ["D001165"], "umls": ["C0334533", "C0003857"], "icd-9": ["747.81", "747.6"], "wikidata": ["Q1584110"]}
|
## Clinical Features
Ruvalcaba et al. (1971) described 2 brothers, born to unrelated parents, who showed mental retardation, short stature, microcephaly, peculiar facies with hooked nose and small mouth, narrow thoracic cage with pectus carinatum, hypoplastic genitalia, hypoplastic 'onion skin' cutaneous lesions, and skeletal deformities including short metatarsals and metacarpals and epiphysitis of the spine. Because 2 female maternal cousins showed some of the same features, X-linked semi-dominant inheritance was considered. One of the girls seems to have been fully affected, however. She died at age 17 years with congenital hydrocephalus and the Dandy-Walker anomaly.
Geormaneanu et al. (1978) reported a 7-year-old boy and his father with the syndrome and a possibly coincidental t(13q;14q) translocation.
Bianchi et al. (1984) described a single case in an Italian male.
Under the designation of Ruvalcaba syndrome, Sugio and Kajii (1984) described a kindred with 9 affected persons in 4 generations. They showed postnatal growth retardation, oval face with high forehead, antimongoloid slant of palpebral fissures (the kindred was Japanese), small, beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short digits. This kindred differed from that reported by Ruvalcaba et al. (1971) in the lack of mental retardation. Hunter (1985) disagreed with the diagnosis of Sugio and Kajii (1984) and considered the disorder to be different from Ruvalcaba syndrome. He pointed to the absence of mental retardation and microcephaly and the presence of sparse hair, beaked nose, long upper lip, and severe degree of metacarpal phalangeal shortness. Niikawa and Kamei (1986) proposed that this is a separate entity which should be called trichorhinophalangeal syndrome, type III (TRPS3; 190351).
Adachi et al. (2010) reported a Japanese girl with clinical manifestations identical to those reported by Ruvalcaba et al. (1971). Born of unrelated parents, she presented at age 6 months with failure to thrive, multiple congenital anomalies, and developmental delay. She had microcephaly, brachycephaly, small and downslanting palpebral fissures, beaked nose with hypoplastic nasal alae, and synophrys. Skeletal anomalies included very short stature, small hands and feet, talipes planus, talipes valgus, short IV and V metacarpals, pectus excavatum, scoliosis, an irregular spinal endplate, and restricted motion of the hip joints. She also had gastric volvulus and recurrent ear infections resulting in hearing impairment. She was severely mentally retarded and had limited breast development at age 13 years. The patient's mother had acetabular dysplasia and downslanting palpebral fissures. Molecular studies of the proband excluded mutation in the TRPS1 (604386) and GNAS1 (139320) genes, and 244K-CGH microarray analysis was negative. Adachi et al. (2010) concluded that Ruvalcaba syndrome is a distinct disease entity.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly Eyes \- Downslanting palpebral fissures \- Central tapetoretinal dystrophy Nose \- Narrow nose \- Hypoplastic alae nasi Teeth \- Crowded teeth CHEST External Features \- Narrow chest Breasts \- Large areolae GENITOURINARY External Genitalia (Male) \- Inguinal hernia Internal Genitalia (Male) \- Cryptorchidism SKELETAL Spine \- Scoliosis \- Kyphosis Limbs \- Short limbs \- Limitation of elbow extension \- Prominent elbows Hands \- Small hands \- Short metacarpals \- Short phalanges Feet \- Small feet \- Short metatarsals NEUROLOGIC Central Nervous System \- Mental retardation ENDOCRINE FEATURES \- Delayed puberty ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
RUVALCABA SYNDROME
|
c0265248
| 28,155 |
omim
|
https://www.omim.org/entry/180870
| 2019-09-22T16:35:04 |
{"mesh": ["C579395"], "omim": ["180870"], "orphanet": ["3121"]}
|
Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
## Epidemiology
It is a very rare disorder that has been described in less than 20 patients.
## Clinical description
This condition usually presents in early childhood and the manifestations are variable. The majority of patients are developmentally delayed with other features that include hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea.
## Etiology
The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.
## Diagnostic methods
The diagnosis of malonic aciduria can be made by detecting elevated levels of organic acids (in particular malonic and methylmalonic acid) in the urine and high levels of malonylcarnitine in the blood. The diagnosis is confirmed by demonstrating reduced enzyme activity in cultured skin fibroblasts. Identification of the MLYCD gene mutation may also be useful for diagnosis and for genetic counselling.
## Antenatal diagnosis
Screening of newborns may be possible through detection of elevated blood levels of malonylcarnitine using electrospray ionisation tandem mass spectrometry (ESI-MS/MS). Prenatal screening is theoretically possible through enzyme or DNA analysis of amniocytes or chorionic villus samples.
## Management and treatment
The principle treatment is dietary, with patients being recommended to follow a low fat/high carbohydrate diet. Carnitine supplements may also be recommended.
## Prognosis
The prognosis for patients is variable but the disease can be lethal in the neonatal period.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Malonic aciduria
|
c0342793
| 28,156 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=943
| 2021-01-23T18:13:37 |
{"gard": ["3371"], "mesh": ["C535702"], "omim": ["248360"], "umls": ["C0342793"], "icd-10": ["E72.8"], "synonyms": ["Malonyl-CoA decarboxylase deficiency"]}
|
A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Adenoid basal carcinoma of the cervix uteri
|
c1516403
| 28,157 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213828
| 2021-01-23T18:26:14 |
{"icd-10": ["C53.0", "C53.1", "C53.8"], "synonyms": ["Cervical adenoid basal carcinoma"]}
|
Pulled elbow
Other namesRadial head subluxation, annular ligament displacement,[1] nursemaid's elbow,[2] babysitter's elbow, subluxatio radii
Capsule of elbow-joint (distended). Anterior aspect. (Nursemaid's elbow involves the head of radius slipping out from the anular ligament of radius.)
SpecialtyEmergency medicine
SymptomsUnwilling to move the arm[2]
Usual onset1 to 4 years old[2]
CausesSudden pull on an extended arm[2]
Diagnostic methodBased on symptoms, Xrays[2]
Differential diagnosisElbow fracture[3]
TreatmentReduction (forearm into a palms down position with straightening at the elbow)[1][2]
PrognosisRecovery within minutes of reduction[1]
FrequencyCommon[2]
A pulled elbow, also known as a radial head subluxation,[4] is when the ligament that wraps around the radial head slips off.[1] Often a child will hold their arm against their body with the elbow slightly bent.[1] They will not move the arm as this results in pain.[2] Touching the arm, without moving the elbow, is usually not painful.[1]
A pulled elbow typically results from a sudden pull on an extended arm.[2] This may occur when lifting or swinging a child by the arms.[2] The underlying mechanism involves slippage of the annular ligament off of the head of the radius followed by the ligament getting stuck between the radius and humerus.[1] Diagnosis is often based on symptoms.[2] X-rays may be done to rule out other problems.[2]
Prevention is by avoiding potential causes.[2] Treatment is by reduction.[2] Moving the forearm into a palms down position with straightening at the elbow appears to be more effective than moving it into a palms up position followed by bending at the elbow.[1][4][5] Following a successful reduction the child should return to normal within a few minutes.[1] A pulled elbow is common.[2] It generally occurs in children between the ages of 1 and 4 years old, though it can happen up to 7 years old.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Signs and symptoms[edit]
Symptoms include:
* The child stops using the arm, which is held in extension (or slightly bent) and palm down.[6]
* Minimal swelling.
* All movements are permitted except supination.
* Caused by longitudinal traction with the wrist in pronation, although in a series only 51% of people were reported to have this mechanism, with 22% reporting falls, and patients less than 6 months of age noted to have the injury after rolling over in bed.[citation needed]
## Cause[edit]
This injury has also been reported in babies younger than six months and in older children up to the preteen years. There is a slight predilection for this injury to occur in girls and in the left arm. The classic mechanism of injury is longitudinal traction on the arm with the wrist in pronation, as occurs when the child is lifted up by the wrist. There is no support for the common assumption that a relatively small head of the radius as compared to the neck of the radius predisposes the young to this injury.[citation needed]
## Pathophysiology[edit]
The distal attachment of the annular ligament covering the radial head is weaker in children than in adults, allowing it to be more easily torn. The older child will usually point to the dorsal aspect of the proximal forearm when asked where it hurts. This may mislead one to suspect a buckle fracture of the proximal radius.[7] There is no tear in the soft tissue (probably due to the pliability of young connective tissues).[7]
The forearm contains two bones: the radius and the ulna. These bones are attached to each other both at the proximal, or elbow, end and also at the distal, or wrist, end. Among other movements, the forearm is capable of pronation and supination, which is to say rotation about the long axis of the forearm. In this movement the ulna, which is connected to the humerus by a simple hinge-joint, remains stationary, while the radius rotates, carrying the wrist and hand with it. To allow this rotation, the proximal (elbow) end of the radius is held in proximity to the ulna by a ligament known as the annular ligament. This is a circular ligamentous structure within which the radius is free, with constraints existing elsewhere in the forearm, to rotate.The proximal end of the radius in young children is conical, with the wider end of the cone nearest the elbow. With the passage of time the shape of this bone changes, becoming more cylindrical but with the proximal end being widened.[citation needed]
If the forearm of a young child is pulled, it is possible for this traction to pull the radius into the annular ligament with enough force to cause it to be jammed therein. This causes significant pain, partial limitation of flexion/extension of the elbow and total loss of pronation/supination in the affected arm. The situation is rare in adults, or in older children, because the changing shape of the radius associated with growth prevents it.[citation needed]
## Diagnosis[edit]
Diagnosis is often based on symptoms.[2] X-rays may be done to rule out other problems.[2]
## Treatment[edit]
To resolve the problem, the affected arm is moved in a way that causes the joint to move back into a normal position. The two main methods are hyperpronation and a combination of supination and flexion. Hyperpronation has a higher success rate and is less painful than a supination-flexion maneuver.[4][8]
## References[edit]
1. ^ a b c d e f g h i Browner, EA (August 2013). "Nursemaid's Elbow (Annular Ligament Displacement)". Pediatrics in Review. 34 (8): 366–7, discussion 367. doi:10.1542/pir.34-8-366. PMID 23908364.
2. ^ a b c d e f g h i j k l m n o p q r "Nursemaid's Elbow". OrthoInfo - AAOS. February 2014. Retrieved 4 December 2017.
3. ^ Cohen-Rosenblum, A; Bielski, RJ (1 June 2016). "Elbow Pain After a Fall: Nursemaid's Elbow or Fracture?". Pediatric Annals. 45 (6): e214–7. doi:10.3928/00904481-20160506-01. PMID 27294496.
4. ^ a b c Krul, M; van der Wouden, JC; Kruithof, EJ; van Suijlekom-Smit, LW; Koes, BW (28 July 2017). "Manipulative interventions for reducing pulled elbow in young children". The Cochrane Database of Systematic Reviews. 7: CD007759. doi:10.1002/14651858.CD007759.pub4. PMC 6483272. PMID 28753234.
5. ^ Bexkens, R; Washburn, FJ; Eygendaal, D; van den Bekerom, MP; Oh, LS (January 2017). "Effectiveness of reduction maneuvers in the treatment of nursemaid's elbow: A systematic review and meta-analysis". The American Journal of Emergency Medicine. 35 (1): 159–163. doi:10.1016/j.ajem.2016.10.059. PMID 27836316. S2CID 2315716.
6. ^ Radial Head Subluxation Joint Reduction at eMedicine
7. ^ a b Nursemaid Elbow at eMedicine
8. ^ Bexkens, R; Washburn, FJ; Eygendaal, D; van den Bekerom, MP; Oh, LS (2 November 2016). "Effectiveness of reduction maneuvers in the treatment of nursemaid's elbow: A systematic review and meta-analysis". The American Journal of Emergency Medicine. 35 (1): 159–163. doi:10.1016/j.ajem.2016.10.059. PMID 27836316. S2CID 2315716.
## External links[edit]
Classification
D
* ICD-10: S53.0
* ICD-9-CM: 832.0
External resources
* MedlinePlus: 000983
* eMedicine: emerg/392
* v
* t
* e
Dislocations/subluxations, sprains and strains
Joints and
ligaments
Head and neck
* Dislocation of jaw
* Whiplash
Shoulder and upper arm
* GH (Dislocated shoulder)
* AC (Separated shoulder)
* ALPSA lesion
* SLAP tear
* Bankart lesion
Elbow and forearm
* Pulled elbow
* Gamekeeper's thumb
Hip and thigh
* Hip dislocation
Knee and leg
* Tear of meniscus
* Anterior cruciate ligament injury
* Unhappy triad
* Patellar dislocation
* Knee dislocation
Ankle and foot
* Sprained ankle (High ankle sprain)
* Turf toe
Muscles and
tendons
Shoulder and upper arm
* Rotator cuff tear
Hip and thigh
* Pulled hamstring
Knee and leg
* Patellar tendon rupture
* Achilles tendon rupture
* Shin splints
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Pulled elbow
|
c0149977
| 28,158 |
wikipedia
|
https://en.wikipedia.org/wiki/Pulled_elbow
| 2021-01-18T18:29:53 |
{"icd-9": ["832.0"], "icd-10": ["S53.0"], "wikidata": ["Q1190520"]}
|
Darlu et al. (1982) derived the genetic heritability of red cell magnesium (0.922), plasma magnesium (0.721), and the genetic correlation between the 2 traits (0.233). Lalouel et al. (1983) suggested that raised level of red cell Mg (but not plasma Mg) is controlled by a common major gene (q = 0.23), roughly 5% of the population being homozygous for the gene.
Lab \- High level of red cell Magnesium Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MAGNESIUM, ELEVATED RED CELL
|
c1855464
| 28,159 |
omim
|
https://www.omim.org/entry/248260
| 2019-09-22T16:25:40 |
{"omim": ["248260"]}
|
Psychiatric disorder involving emotional difficulty in response to a stressor
Adjustment disorder
SpecialtyPsychiatry, clinical psychology
ComplicationsSuicide;[1] Progression to more serious psychiatric disorders, e.g., PTSD or Major Depressive Disorder.
Usual onsetTheoretically, within one to three months after a stressful event.
DurationTheoretically, up to six months unless the stressor or its consequences continue.
TypesMild, moderate, severe.
Risk factorsHistory of mental disorder; low social support.
Differential diagnosisRule out PTSD, Depressive Disorders, & Anxiety Disorders.
TreatmentPsychotherapy; bibliotherapy; structured paraprofessional help.
PrognosisRelatively good compared to many other mental disorders, but severity varies.
An adjustment disorder (AjD) occurs when an individual has significant difficulty adjusting to or coping with significant psychosocial stressors. The maladaptive response usually involves otherwise normal emotional and behavioral reactions that manifest more intensely than usual (taking into account contextual and cultural factors), causing marked distress, preoccupation with the stressor and its consequences, and functional impairment.[2][3][4][5]
Diagnosis of AjD is quite common; there is an estimated incidence of 5–21% among psychiatric consultation services for adults. Adult women are diagnosed twice as often as are adult men. Among children and adolescents, girls and boys are equally likely to receive this diagnosis.[6]:681 AjD was introduced into the Diagnostic and Statistical Manual of Mental Disorders in 1980. Prior to that, it was called 'Transient Situational Disturbance'[7]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Diagnosis
* 3.1 DSM-5 classification
* 3.2 ICD-11 classification
* 4 Treatment
* 5 Criticism
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Some emotional signs of adjustment disorder are: sadness, hopelessness, lack of enjoyment, crying spells, nervousness, anxiety, desperation, feeling overwhelmed and thoughts of suicide, performing poorly in school/work etc.
Common characteristics of AjD include mild depressive symptoms, anxiety symptoms, and traumatic stress symptoms or a combination of the three. According to the DSM-5, there are six types of AjD, which are characterized by the following predominant symptoms: depressed mood, anxiety, mixed depression and anxiety, disturbance of conduct, mixed disturbance of emotions and conduct, and unspecified. However, the criteria for these symptoms are not specified in greater detail.[8] AjD may be acute or chronic, depending on whether it lasts more or less than six months. According to the DSM-5, if the AjD lasts less than six months, then it may be considered acute. If it lasts more than six months, it may be considered chronic.[8] Moreover, the symptoms cannot last longer than six months after the stressor(s), or its consequences, have terminated.[6]:679 However, the stress-related disturbance does not only exist as an exacerbation of a pre-existing mental disorder.[9]
Unlike major depression, the disorder is caused by an outside stressor and generally resolves once the individual is able to adapt to the situation. The condition is different from anxiety disorder, which lacks the presence of a stressor, or post-traumatic stress disorder and acute stress disorder, which usually are associated with a more intense stressor.
Suicidal behavior is prominent among people with AjD of all ages, and up to one-fifth of adolescent suicide victims may have an adjustment disorder. Bronish and Hecht (1989) found that 70% of a series of patients with AjD attempted suicide immediately before their index admission and they remitted faster than a comparison group with major depression.[10] Asnis et al. (1993) found that AjD patients report persistent ideation or suicide attempts less frequently than those diagnosed with major depression.[11] According to a study on 82 AjD patients at a clinic, Bolu et al. (2012) found that 22 (26.8%) of these patients were admitted due to suicide attempt, consistent with previous findings. In addition, it was found that 15 of these 22 patients chose suicide methods that involved high chances of being saved.[12] Henriksson et al. (2005) states statistically that the stressors are of one-half related to parental issues and one-third in peer issues.[13]
One hypothesis about AjD is that it may represent a sub-threshold clinical syndrome.[9]
## Risk factors[edit]
Those exposed to repeated trauma are at greater risk, even if that trauma is in the distant past. Age can be a factor due to young children having fewer coping resources; children are also less likely to assess the consequences of a potential stressor.
A stressor is generally an event of a serious, unusual nature that an individual or group of individuals experience. The stressors that cause adjustment disorders may be grossly traumatic or relatively minor, like loss of a girlfriend/boyfriend, a poor report card, or moving to a new neighborhood. It is thought that the more chronic or recurrent the stressor, the more likely it is to produce a disorder. The objective nature of the stressor is of secondary importance. Stressors' most crucial link to their pathogenic potential is their perception by the patient as stressful. The presence of a causal stressor is essential before a diagnosis of adjustment disorder can be made.[14]
There are certain stressors that are more common in different age groups:[15]
Adulthood:
* Marital conflict
* Financial conflict
* Health issues with oneself, partner or dependent children
* Personal tragedy such as death or personal loss
* Loss of job or unstable employment conditions e.g. corporate takeover or redundancy
Adolescence and childhood:
* Family conflict or parental separation
* School problems or changing schools
* Sexuality issues
* Death, illness or trauma in the family
In a study conducted from 1990 to 1994 on 89 psychiatric outpatient adolescents, 25% had attempted suicide in which 37.5% had misused alcohol, 87.5% displayed aggressive behaviour, 12.5% had learning difficulties, and 87.5% had anxiety symptoms.[13]
## Diagnosis[edit]
### DSM-5 classification[edit]
The basis of the diagnosis is the presence of a precipitating stressor and a clinical evaluation of the possibility of symptom resolution on removal of the stressor due to the limitations in the criteria for diagnosing AjD. In addition, the diagnosis of AjD is less clear when patients are exposed to stressors long-term, because this type of exposure is associated with AjD and major depressive disorder (MDD) and generalized anxiety disorder (GAD).[16]
Some signs and criteria used to establish a diagnosis are important. First, the symptoms must clearly follow a stressor. The symptoms should be more severe than would be expected. There should not appear to be other underlying disorders. The symptoms that are present are not part of a normal grieving for the death of family member or other loved one.[17]
Adjustment disorders have the ability to be self-limiting. Within five years of when they are originally diagnosed, approximately 20–50% of the sufferers go on to be diagnosed with psychiatric disorders that are more serious.[9]
### ICD-11 classification[edit]
International Statistical Classification of Diseases and Related Health Problems (ICD), assigns codes to classify diseases, symptoms, complaints, social behaviors, injuries, and such medical-related findings.
ICD-11 classifies Adjustment disorder (6B43) under "Disorders specifically associated with stress".[5]
## Treatment[edit]
There has been little systematic research regarding the best way to manage individuals with an adjustment disorder. Because natural recovery is the norm, it has been argued that there is no need to intervene unless levels of risk or distress are high.[18] However, for some individuals treatment may be beneficial. AjD sufferers with depressive or anxiety symptoms may benefit from treatments usually used for depressive or anxiety disorders. One study found that AjD sufferers received similar interventions to those with other psychiatric diagnoses, including psychological therapy and medication.[19]
In addition to professional help, parents and caregivers can help their children with their difficulty adjusting by:[20]
* offering encouragement to talk about their emotions;
* offering support and understanding;
* reassuring the child that their reactions are normal;
* involving the child's teachers to check on their progress in school;
* letting the child make simple decisions at home, such as what to eat for dinner or what show to watch on TV;
* having the child engage in a hobby or activity they enjoy.
## Criticism[edit]
Like many of the items in the DSM, adjustment disorder receives criticism from a minority of the professional community as well as those in semi-related professions outside the health-care field. First, there has been criticism of its classification. It has been criticized for its lack of specificity of symptoms, behavioral parameters, and close links with environmental factors. Relatively little research has been done on this condition.[18]
An editorial in the British Journal of Psychiatry described adjustment disorder as being so "vague and all-encompassing… as to be useless,"[21][22] but it has been retained in the DSM-5 because of the belief that it serves a useful clinical purpose for clinicians seeking a temporary, mild, non-stigmatizing label, particularly for patients who need a diagnosis for insurance coverage of therapy.[23]
In the US military there has been concern about its diagnosis in active duty military personnel.[24]
## References[edit]
1. ^ "Adjustment disorders - Symptoms and causes". Mayo Clinic. Retrieved 30 May 2019.
2. ^ Glaesmer, Heide; Romppel, Matthias; Brähler, Elmar; Hinz, Andreas; Maercker, Andreas (2015). "Adjustment disorder as proposed for ICD-11: Dimensionality and symptom differentiation". Psychiatry Research. 229 (3): 940–948. doi:10.1016/j.psychres.2015.07.010. PMID 26272020. S2CID 21812080.
3. ^ O’Donnell, Meaghan L.; Agathos, James A.; Metcalf, Olivia; Gibson, Kari; Lau, Winnie (16 Jul 2019). "Adjustment Disorder: Current Developments and Future Directions". International Journal of Environmental Research and Public Health. 16 (14). 2537. doi:10.3390/ijerph16142537. ISSN 1660-4601. PMC 6678970. PMID 31315203.
4. ^ Maercker, Andreas; Lorenz, Louisa (2018). "Adjustment disorder diagnosis: Improving clinical utility". The World Journal of Biological Psychiatry. 19 (sup1): S3–S13. doi:10.1080/15622975.2018.1449967. ISSN 1562-2975. PMID 30204562.
5. ^ a b "6B43 Adjustment disorder". ICD-11 - Mortality and Morbidity Statistics. Retrieved 2019-08-28.
6. ^ a b American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (5th ed.). pp. 271–281.
7. ^ Casey, P.; Bailey, S. (2011). "Adjustment disorders: The state of the art". World Psychiatry. 10 (1): 11–18. PMC 3048515.
8. ^ a b Casey, P. (2009). Adjustment Disorder: Epidemiology, Diagnosis and Treatment. CNS drugs, 23(11), 927-938.
9. ^ a b c Bisson, J. I.; Sakhuja, D. (July 2006). "Adjustment disorders". Psychiatry. 5 (7): 240–242. doi:10.1053/j.mppsy.2006.04.004.
10. ^ Bronish, T., & Hecht, H. (1989). Validity of adjustment disorder, comparison with major depression. Journal of Affective Disorders, 17, 229–236.
11. ^ Asnis, G.M.; Friedman, T.A.; Sanderson, W.C.; Kaplan, M.L.; van Praag, H.M.; Harkavy-Friedman, J.M. (January 1993). "Suicidal behavior in adult psychiatric outpatients, I: Description and prevalence". American Journal of Psychiatry. 150 (1): 108–112. doi:10.1176/ajp.150.1.108. PMID 8417551.
12. ^ Bolu, A., Doruk, A., Ak, M., Özdemir, B., & Özgen, F. (2012). Suicidal behavior in adjustment disorder patients. Dusunen Adam, 25(1), 58–62.
13. ^ a b Pelkonen, Mirjami; Marttunen, Mauri; Henriksson, Markus; Lönnqvist, Jouko (May 2005). "Suicidality in adjustment disorder: Clinical characteristics of adolescent outpatients". European Child & Adolescent Psychiatry. 14 (3): 174–180. doi:10.1007/s00787-005-0457-8. PMID 15959663. S2CID 33646901.
14. ^ Strain, J. J. (2015). Adjustment disorders. Encyclopedia of Psychopharmacology, 36-39.
15. ^ Powell, Alicia D. (2015). "Grief, Bereavement, and Adjustment Disorders". In Stern, Theodore A.; Fava, Maurizio; Wilens, Timothy E.; et al. (eds.). Massachusetts General Hospital Comprehensive Clinical Psychiatry (2nd ed.). Elsevier. pp. 428–32. ISBN 978-0-323-32899-9.
16. ^ Casey, Patricia; Doherty, Anne (2012). "Adjustment disorder: Diagnostic and treatment issues". Psychiatric Times. 29: 43–6.
17. ^ Adjustment Disorders at eMedicine
18. ^ a b Casey, Patricia (January 2001). "Adult adjustment disorder: a review of its current diagnostic status". Journal of Psychiatric Practice. 7 (1): 32–40. doi:10.1097/00131746-200101000-00004. PMID 15990499.
19. ^ Strain, J.J.; Smith, G.C.; Hammer, J.S.; McKenzie, D.P.; Blumenfield, M.; Muskin, P.; Newstadt, G.; Wallack, J.; Wilner, A.; Schleifer, S.S. (May 1998). "Adjustment disorder: a multisite study of its utilization and interventions in the consultation-liaison psychiatry setting". General Hospital Psychiatry. 20 (3): 139–49. doi:10.1016/S0163-8343(98)00020-6. PMID 9650031.
20. ^ "Adjustment disorders: Lifestyle and home remedies". Mayo Clinic. Retrieved 2 December 2016.
21. ^ Casey P, Dowrick C, Wilkinson G (December 2001). "Adjustment disorders: fault line in the psychiatric glossary". British Journal of Psychiatry. 179 (6): 479–81. doi:10.1192/bjp.179.6.479. PMID 11731347.
22. ^ Fard K, Hudgens RW, Welner A (March 1978). "Undiagnosed psychiatric illness in adolescents: A prospective study and seven-year follow-up". Archives of General Psychiatry. 35 (3): 279–82. doi:10.1001/archpsyc.1978.01770270029002. PMID 727886.
23. ^ Baumeister, H., & Kufner, K. (2009). It is time to adjust the adjustment disorder category. Current Opinion in Psychiatry, 22(4), 409-412.
24. ^ "Discharges for adjustment disorder soar". 29 March 2013. Retrieved 31 July 2018.
## Further reading[edit]
* First, Michael B., ed. (2014). "Differential Diagnosis by the Trees". DSM-5 Handbook of Differential Diagnosis (1st ed.). Arlington, VA: American Psychiatric Publishing. doi:10.1176/appi.books.9781585629992.mf02. ISBN 978-1-58562-999-2. OCLC 864759427.
* Casey, P. R., & Strain, J. J. (Eds.). (2015). Trauma-and Stressor-related Disorders: A Handbook for Clinicians. American Psychiatric Pub. ISBN 978-1585625055
## External links[edit]
Classification
D
* ICD-10: F43.2
* ICD-9-CM: 309
* MeSH: D000275
* DiseasesDB: 33765
External resources
* MedlinePlus: 000932
* eMedicine: med/3348
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Adjustment disorder
|
c0040701
| 28,160 |
wikipedia
|
https://en.wikipedia.org/wiki/Adjustment_disorder
| 2021-01-18T19:02:03 |
{"mesh": ["D000275"], "umls": ["C0040701"], "icd-10": ["F43.2"], "wikidata": ["Q317158"]}
|
## Summary
This overview focuses on the clinical features and molecular genetics of common syndromic and nonsyndromic types of hereditary hearing loss.
The goals of this overview on hereditary hearing loss and deafness are the following:
### Goal 1.
Describe the clinical characteristics of hereditary hearing loss and deafness.
### Goal 2.
Review the causes of hereditary hearing loss and deafness.
### Goal 3.
Provide an evaluation strategy to identify the genetic cause of hereditary hearing loss and deafness in a proband (when possible).
### Goal 4.
Inform genetic counseling of family members of an individual with hereditary hearing loss and deafness.
### Goal 5.
Review management of hereditary hearing loss and deafness.
## Diagnosis
## Clinical Characteristics
## Differential Diagnosis
In children with delayed speech development, the auditory system should be assessed.
In the presence of normal audiometry associated with progressive loss of speech and temporal lobe seizures, the diagnosis of Landau-Kleffner syndrome should be considered.
Delayed speech suggesting possible hearing loss can also be seen in young children with autism spectrum disorder or specific speech and language disorders.
In developed countries approximately 80% of congenital hearing loss is due to genetic causes and the remainder to environmental (acquired) causes (Figure 2). Acquired causes should be differentiated from genetic causes to inform the evaluation and required ancillary testing (i.e., CT, MRI, and consultation with specialists) and to inform prognosis and treatment recommendations.
#### Figure 2.
Causes of prelingual hearing loss in developed countries
Acquired hearing loss in children commonly results from prenatal infections from "TORCH" organisms (i.e., toxoplasmosis, rubella, cytomegalovirus, and herpes), or postnatal infections, particularly bacterial meningitis caused by Neisseria meningitidis, Haemophilus influenzae, or Streptococcus pneumoniae. Meningitis from many other organisms including Escherichia coli, Listeria monocytogenes, Streptococcus agalactiae, and Enterobacter cloacae can also cause hearing loss.
In developed countries, however, the most common environmental, non-genetic cause of congenital hearing loss is congenital cytomegalovirus (cCMV) infection. Its overall birth prevalence is approximately 0.64%; 10% of this number have symptomatic CMV, which is characterized by a variable number and degree of findings including neurologic deficits (death, seizures, cerebral palsy), hepatic insufficiency, and characteristic rash. Hearing loss affects approximately 50% of symptomatic individuals with cCMV. The remaining 90% of individuals with cCMV are considered "asymptomatic"; of these up to 15% develop unilateral or bilateral hearing loss. Thus, the majority of individuals with hearing loss due to cCMV are classified as "asymptomatic."
The diagnosis of CMV hearing loss can be difficult to make, often can go unrecognized, and is characterized by variable-severity bilateral, asymmetric, or unilateral sensorineural hearing loss [Kenneson & Cannon 2007]. Testing for cCMV requires a high degree of suspicion and should be done within 21 days of birth given the ubiquity of the virus in the environment. Several states have introduced targeted testing for cCMV for newborns who fail their newborn hearing screen. Recognizing cCMV hearing loss is increasingly important given new studies that show improvement of hearing loss with antiviral therapy for persons with symptomatic CMV [Kimberlin et al 2015]. To date, however, the use of antivirals to treat hearing loss in persons with cCMV whose only manifestation is hearing loss is experimental.
Acquired hearing loss in adults, most often attributed to environmental factors, most likely reflects environmental-genetic interactions, the most frequent of which are age-related and noise-induced hearing loss. Although both of these types of hearing loss reflect complex "environmental-genetic" hearing loss, to date variants in only a few genes have been associated with these traits [Yamasoba et al 2013].
An environmental interaction pertinent to medical care is the observation that aminoglycoside-induced hearing loss is more likely in persons with specific variants in the mitochondrial genome (mtDNA) (see Nonsyndromic Hearing Loss and Deafness, Mitochondrial).
## Management
### Treatment of Manifestations
Ideally, the team evaluating and treating the deaf individual should consist of an otolaryngologist with expertise in the management of early childhood otologic disorders, an audiologist experienced in the assessment of hearing loss in children, a clinical geneticist, and a pediatrician. The expertise of an educator of the Deaf, a neurologist, and a pediatric ophthalmologist may also be required.
An important part of the evaluation is determining the appropriate habilitation option. Possibilities include hearing aids, vibrotactile devices, and cochlear implantation. Cochlear implantation can be considered in children older than age 12 months with severe-to-profound hearing loss.
The ultimate goal in the evaluation and treatment of a child with hereditary hearing loss and deafness is mainstream schooling. Research shows that diagnosis by age three months and habilitation by six months makes this goal possible for children with mild-to-moderate hearing loss. Cochlear implantation in children with severe-to-profound deafness who are part of mainstream education leads to social functioning and educational attainment that is indistinguishable from normal-hearing peers [Loy et al 2010, Langereis & Vermeulen 2015].
Recent research has focused on cochlear implant performance based on the gene involved. Due to the genetic heterogeneity of deafness, large sample sizes are difficult to obtain for performance on a per-gene basis. However, the data are clear that individuals with GJB2-related hearing loss (see Nonsyndromic Hearing Loss and Deafness, DFNB1) have excellent cochlear implant outcomes that are significantly better than those of individuals with environmental causes of deafness [Yoshida et al 2013, Abdurehim et al 2017].
In adults, cochlear implant performance may be compromised when the genetic defect affects the auditory nerve itself; however, this hypothesis requires further research [Shearer et al 2017].
DFNX3 is characterized by a mixed conductive-sensorineural hearing loss, the conductive component of which is caused by stapedial fixation. In contrast to other types of conductive hearing loss, surgical correction of DFNX3-related hearing loss can compromise hearing. An abnormal communication between the cerebrospinal fluid and perilymph can lead to fluid leakage ("perilymphatic gusher") at surgery and complete loss of hearing upon fenestration or removal of the stapes footplate.
### Prevention of Primary Manifestations
Whenever a child presents with progressive sensorineural hearing loss and progressive ataxia, with or without neurologic or cutaneous symptoms, biotinidase deficiency should be considered, with initiation of treatment as early as possible to prevent irreversible sequelae.
### Prevention of Secondary Complications
Regardless of its etiology, uncorrected hearing loss has consistent sequelae. Auditory deprivation through age two years is associated with poor reading performance, poor communication skills, and poor speech production. Educational intervention is insufficient to completely remediate these deficiencies. In contrast, early auditory intervention is effective – whether through amplification, otologic surgery, or cochlear implantation [Smith et al 2005].
Although decreased cognitive skills and performance in mathematics and reading are associated with deafness, examination of persons with hereditary hearing loss has shown that these deficiencies are not intrinsically linked to the cause of the deafness. For example, assessment of cognitive skills in individuals with GJB2-related hearing loss reveals a normal Hiskey IQ and normal reading performance after cochlear implantation [Bauer et al 2003]. Thus, early identification and timely intervention is essential for optimal cognitive development in children with prelingual deafness.
### Surveillance
Sequential audiologic examinations are essential to:
* Document the stability or progression of the hearing loss;
* Identify and treat superimposed hearing losses, such as middle ear effusion.
In a person with autosomal recessive nonsyndromic hearing loss caused by pathogenic variants in SLC26A4, the hearing loss can progress and annual audiometric testing may be warranted. Additionally, thyroid function should be followed if the diagnosis is consistent with Pendred syndrome.
### Agents/Circumstances to Avoid
Noise exposure is a well-recognized environmental cause of hearing loss. Since this risk can be minimized by avoidance, persons with documented hearing loss should be counseled appropriately.
### Evaluation of Relatives at Risk
At a minimum, all children at risk for hereditary deafness and hearing loss should receive screening audiometry.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hereditary Hearing Loss and Deafness Overview
|
None
| 28,161 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1434/
| 2021-01-18T21:20:58 |
{"synonyms": []}
|
## Summary
### Clinical characteristics.
Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. Three major clinical subtypes have been suggested:
* A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1)
* A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression (type 2)
* A severe form manifested as prenatal loss or early death from progressive central nervous system involvement or infection (type 3)
Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease – mainly cerebellar involvement causing ataxia. Periods of psychiatric symptoms are common. Associated medical problems can include corneal opacities, hepatosplenomegaly, aseptic destructive arthritis, and metabolic myopathy. Alpha-mannosidosis is insidiously progressive; some individuals may live into the sixth decade.
### Diagnosis/testing.
The diagnosis of alpha-mannosidosis is established in a proband by identification of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts. Identification of biallelic pathogenic variants in MAN2B1 by molecular genetic testing can confirm the diagnosis and allow for family studies.
### Management.
Treatment of manifestations: The enzyme replacement therapy velmanase alfa has been approved in some European countries for treatment of alpha-mannosidosis. Treatments aimed at preventing complications and optimizing quality of life also include early use of antibiotics for bacterial infections, hearing aids for hearing loss, insertion of pressure-equalizing tubes if fluid accumulates in the middle ear, glasses to correct refractive error, physiotherapy, use of a wheelchair, orthopedic intervention, and shunting as needed for hydrocephalus. Educational considerations include use of sign language for individuals with hearing loss, early educational intervention for development of social skills, speech therapy, and special education to maximize learning.
Prevention of secondary complications: Prophylactic vaccinations because of immunodeficiency.
Surveillance: Annual or semiannual medical history and physical examination and specific otolaryngology, audiometry, ophthalmologic, neuropsychological, and skeletal examinations, along with blood tests and CT scans of the brain.
Evaluation of relatives at risk: Test at-risk newborn sibs to permit early intervention for affected children.
### Genetic counseling.
Alpha-mannosidosis is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives is possible if the pathogenic variants in the family are known. Prenatal testing for pregnancies at increased risk is possible by assay of acid alpha-mannosidase enzymatic activity or molecular genetic testing once the pathogenic variants have been identified in the family.
## Diagnosis
### Suggestive Findings
Alpha-mannosidosis should be suspected in individuals with the following clinical, laboratory, and pathology findings.
Clinical features
* Facial features (e.g., coarse facial features, macrocephaly, prominent forehead, highly arched brows, depressed nasal bridge, widely spaced teeth, macroglossia, prognathism)
* Skeletal abnormalities (e.g., dysostosis multiplex, focal lytic or sclerotic lesions, osteonecrosis, osteopenia)
* Hearing loss, mixed
* Frequent infections
* Developmental delay
* Intellectual disability
* Ataxia
Laboratory features. Elevated urinary excretion of mannose-rich oligosaccharides can be demonstrated by thin-layer chromatography [Humble & Collart 1975] or capillary high-performance anion exchange chromatography [Bruggink et al 2012].
Histopathology. Light microscopy demonstrates vacuoles in lymphocytes from peripheral blood in 90% of affected individuals.
### Establishing the Diagnosis
The diagnosis of alpha-mannosidosis can be established in a proband by identification of deficiency of lysosomal enzyme acid alpha-mannosidase (MAN2B1) in leukocytes or other nucleated cells. In affected individuals, alpha-mannosidase enzyme activity in peripheral blood leukocytes is 5%-10% of normal activity. Note: This "residual" enzyme activity appears to represent mannosidase from other organelles or compartments (e.g., Golgi apparatus or cytosol) since they show some activity also at low pH.
Molecular genetic testing. Identification of biallelic pathogenic variants in MAN2B1 by molecular genetic testing can establish the diagnosis (see Table 1). Approaches can include single-gene testing*, use of a multigene panel, and comprehensive genomic testing.
* Before single-gene testing, the activity of lysosomal alpha-mannosidase should be determined.
* Single-gene testing. Sequence analysis of MAN2B1 is then performed, followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
* A multigene panel that includes MAN2B1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. (4) In individuals with only MAN2B1 variants of uncertain significance identified, DNA sequencing should be followed by testing alpha-mannosidase activity in peripheral blood leukocytes.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* Comprehensive genomic testing. When the diagnosis of alpha-mannosidosis is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is the most commonly used genomic testing method; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Alpha-Mannosidosis
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
MAN2B1Sequence analysis 398.5% 4
Gene-targeted deletion/duplication analysis 5<2% 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
More than 130 MAN2B1 pathogenic variants have been reported [Berg et al 1999, Kuokkanen et al 2011, Riise Stensland et al 2012]; reviewed in Riise Stensland et al [2015].
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
A few affected individuals were found to have a deletion of one or more exons [Riise Stensland et al 2012].
## Clinical Characteristics
### Clinical Description
The clinical phenotype of alpha-mannosidosis varies considerably with a wide spectrum of clinical findings and broad variability in individual presentation. Designating clinical types can be useful in prognosis and management. At least three clinical types (mild, moderate, and severe) have been suggested [Malm & Nilssen 2008]. Most individuals described fit into the moderate type.
* Mild form. Clinically recognized after age ten years, with myopathy, slow progression, and absence of skeletal abnormalities (type 1)
* Moderate form. Clinically recognized before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities (type 2)
* Severe form. With obvious progression leading to early death from primary central nervous system involvement or infection (type 3)
Motor function. Affected children learn to walk somewhat later than normal. They are generally clumsy; ataxia is the most characteristic and specific motor disturbance. In addition to joint abnormalities and a metabolic myopathy [Alroy et al 1984], the disease particularly affects those areas of the brain responsible for fine motor function and muscular coordination. Muscular hypotonia is common. Spastic paraplegia has also been described [Kawai et al 1985], but in general, spasticity, rigidity, and dyskinesia are not observed. Follow-up observations have also suggested progressive impairment of motor function with age [Autio et al 1982]. A longitudinal clinical study on a brother and sister indicated no progression over a period of 25 years [Ara et al 1999]. However, as their basic neuropsychological impairment was described as severe, progression would be difficult to detect.
Intellectual disability. Early psychomotor development may appear normal, but intellectual disability occurs in all individuals. Individuals with adult-onset disease are usually mildly or moderately intellectually disabled with an IQ of 60-80 [Aylsworth et al 1976, Bach et al 1978]. The measurement of total mental performance is very complex, and individuals tend to score better in nonverbal tests. Individuals are late in initiating speech (sometimes as late as the second decade) and have restricted vocabulary and difficult-to-understand pronunciation – possibly the results of congenital and/or later-onset hearing loss.
Most affected individuals described have been children; therefore, information on the natural course of alpha-mannosidosis is based on a limited number of observations. Some investigators suggest that intellectual disability progresses slowly [Autio et al 1982]; others suggest that disease progression ceases after puberty [Yunis et al 1976]. In a few individuals undergoing neurodevelopmental assessment, general intelligence, language skills, visual-spatial skills, and overall adaptive abilities appeared stable over a period of two years [Noll et al 1989]. In a longitudinal study of a brother and sister over a period of 25 years, decreased speech capacity was seen in one sib but not the other [Ara et al 1999].
Psychiatric symptoms distinct from the intellectual disability may affect 25% or more of persons with alpha-mannosidosis. Onset is typically from late puberty to early adolescence. Episodes may be recurrent and of limited duration; medication may be necessary to alleviate symptoms.
In nine individuals with alpha-mannosidosis and psychiatric symptoms, a physical or psychological stressor preceded the rapid development of confusion, delusions, hallucinations, anxiety, and often depression, leading to severe loss of function usually lasting three to 12 weeks, and followed by a period of somnolence, asthenia, and prolonged sleep [Malm et al 2005]. In four of the nine individuals, evaluation of the psychiatric syndrome did not reveal an underlying organic cause.
Neuroimaging. Brain MRI including sagittal T1 and axial T2 sections reveals a partially empty sella turcica, cerebellar atrophy, and white matter signal modifications. Progressive cortico-subcortical atrophy, especially in the cerebellar vermis, has been described [Ara et al 1999]. High signal abnormalities involving the parieto-occipital white matter are identified on axial T2-weighted scans in some individuals and are probably related to demyelination and associated gliosis as described by Dietemann et al [1990].
Hearing loss. Most individuals appear to have early-childhood-onset non-progressive hearing loss. In many if not most individuals, the hearing loss is partly conductive and partly sensorineural [Autio et al 1982]. Individuals typically experience early ear infections with fluid in the middle ear, probably the result of immunodeficiency and bony abnormalities of the skull leading to closure of the eustachian tubes. If untreated in early childhood, reduced hearing contributes to disturbances in speech and mental function.
Facial features. Independent of family and ethnicity, individuals have typical Hurler-like facies (see Mucopolysaccharidosis Type 1) or coarse facial features, macrocephaly with a prominent forehead, highly arched eyebrows, depressed nasal bridge, widely spaced teeth, macroglossia, and prognathism. The features can also be so subtle that they may be overlooked by an inexperienced observer.
Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. Clinical or radiographic evidence of mild-to-moderate dysostosis multiplex occurs in 90% of individuals diagnosed with alpha-mannosidosis [Chester et al 1982]; intrafamilial variation is considerable. Conventional radiographs (x-rays) may reveal thickened calvaria; ovoid configuration, flattening, and hook-shaped deformity of the vertebral bodies; hypoplasia of the inferior portions of the ilia; and mild expansion of the short tubular bones of the hands.
Knock-knee is common and contributes to the gait disturbance.
The skeletal abnormalities may decrease with age [Spranger et al 1976].
Cranial MRI, including sagittal T1 and axial T2 sections, demonstrates several skeletal abnormalities including brachycephaly, thick calvarium, and poor pneumatization of the sphenoid body [Dietemann et al 1990].
Immunodeficiency. Individuals with alpha-mannosidosis have frequent infections. Malm et al [2000] compared humoral and cellular immunocompetence in six affected individuals to that of six healthy controls. They determined that individuals with alpha-mannosidosis appear to have decreased ability to produce specific antibodies in response to antigen presentation. Although infections generate compensatory mechanisms in leukocytes to improve phagocytosis, these mechanisms are inadequate because of disease-induced phagocyte-blocking agents in the serum or because of the lack of specific antibodies. In addition, leukocytes have a decreased capacity for intracellular killing, which may contribute to the often serious outcome of bacterial infections.
Hepatosplenomegaly. The liver and spleen are often enlarged, especially in more severely affected individuals; however, this has no clinical significance. Liver function is normal. Liver biopsy reveals the same vacuoles in hepatocytes as described in several hematologic cell lines.
Ocular features. Hyperopia, myopia, or slight strabismus is common. Lenticular changes, superficial corneal opacities [Bach et al 1978], and blurred discs [Kjellman et al 1969] have been reported. Most of these ophthalmologic findings can be remedied (see Management).
Other
* Communicating hydrocephalus can occur at any age [Halperin et al 1984].
* Cardiac and renal complications are rarely observed; however, aortic regurgitation may be more common in individuals with alpha-mannosidosis.
* Systemic lupus erythematosus has been frequently observed in individuals with alpha-mannosidosis.
Natural course of the disease. The first decade of life is characterized by a high incidence of recurrent infections, including the common cold, pneumonia, gastroenteritis, and more rarely, infections of the urinary tract. Serous otitis media is common and is usually not bacterial.
The infections diminish in the second and third decade, when ataxia and muscular weakness are more prominent. However, many individuals are able to ski, ride a bike, or play soccer up to the third decade. At any time, individuals risk setbacks in the form of acute necrotizing arthritis or acute hydrocephalus, both requiring surgery. Worsening of the myopathy has also been described [Kawai et al 1985, unpublished personal data].
Pathophysiology. During normal turnover and catabolism, glycoproteins are digested by proteinases and glycosidases within the lysosomes. These enzymes degrade glycoproteins into fragments small enough to be excreted or transported to the cytosol for reuse. Lack or deficiency of a hydrolase, such as lysosomal alpha-mannosidase, results in the multisystemic accumulation of undigested oligosaccharides in the lysosomes. However, the pathophysiology of lysosomal storage disorders is complex, and accumulation of storage material alone cannot fully explain disease mechanisms.
### Genotype-Phenotype Correlations
No genotype-phenotype correlations are known.
### Nomenclature
Alpha-mannosidosis may also be referred to as "lysosomal alpha-d-mannosidase deficiency."
### Prevalence
Little is known about the prevalence of alpha-mannosidosis. A study from Australia reported a prevalence of one in 500,000 [Meikle et al 1999]. A study from Norway reported six individuals in a population of 4.5 million [Malm et al 1995], and a prevalence of one in 300,000 was reported in the Czech Republic [Poupetová et al 2010].
The disease is not specific to any ethnic group; individuals from all parts of the world have been described [Riise Stensland et al 2012].
## Differential Diagnosis
Lysosomal storage disease. The main clinical features in alpha-mannosidosis – intellectual disability, ataxia, coarse face, and dysostosis multiplex – may show overlap with other lysosomal storage diseases (e.g., mucopolysaccharidosis type 1). However, the distinctive clinical features associated with these other lysosomal storage diseases, the availability of biochemical testing in clinical laboratories, and an understanding of their natural history should help in distinguishing between them.
### Table 2.
Disorders to Consider in the Differential Diagnosis of Alpha-Mannosidosis
View in own window
DisorderGene(s)MOIClinical and Laboratory Features of This Disorder
Overlapping w/α-mannosidosisDistinguishing from α-mannosidosis
Mucopolysaccharidoses (see MPS I)ManyAR
XLCoarse facial features, dysostosis multiplex, IDShort stature, contractures
Sialidosis
(OMIM 256550)NEU1ARCoarse facial features, dysostosis multiplex, IDCherry red spot of the macula
Mucolipidosis II (see GNPTAB-Related Disorders)GNPTABARCoarse facial features, dysostosis multiplexShort stature, failure to thrive
Mucolipidosis III alpha/beta (see GNPTAB-Related Disorders)GNPTABARCoarse facial features, dysostosis multiplexShort stature, normal to mildly impaired cognitive development
Cantú syndromeABCC9
KCNJ8ADCoarse facial features, thickened ribsHeart defects, hypertrichosis
Sialuria
(OMIM 269921)GNEADHypotonia, coarse facial features, DD, frequent upper-respiratory infectionsJoint stiffness, seizures, microcytic anemia
AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with alpha-mannosidosis, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Medical history including evidence of hearing loss, irritability, depression; change in social, domestic, school- or work-related activities or in ability to walk distances; diarrhea or incontinence, muscle pain, joint aches, reduced range of movement, and bone pain
* Physical examination including otoscopy, ophthalmoscopy, assessment of liver and spleen size, auscultation of heart and lungs, neurologic status including gait, and orthopedic evaluation including joint range of motion. In children, attention to growth (plot height, weight, and especially head circumference using standardized growth charts)
* Examination by an otolaryngologist to detect impaired hearing and middle-ear infections
* Audiometry. If intellectual disability or young age makes cooperation difficult, brain stem evoked response testing
* Ophthalmologic examination to evaluate for corneal opacities, myopia, hyperopia, and strabismus
* Neuropsychological testing to establish functional level and learning capacity
* Blood tests. Clinical examination and immunologic tests (e.g., antinuclear antibodies, anti-ds-DNA antibodies) to exclude systemic lupus erythematosus (SLE)
* Skeletal assessment. Plain radiographs of the head, knees (anterior-posterior view), spine (lateral view), and any symptomatic sites
* Bone densitometry to detect osteopenia or osteoporosis in older individuals
* CT scan of the brain to evaluate the size of the ventricles and shape and size of the cerebellum, particularly if signs and symptoms of hydrocephalus are present (e.g., headache, increasing gait ataxia, nausea, papilledema)
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Enzyme replacement therapy (ERT). Velmanase alfa has been developed as a treatment for alpha-mannosidosis. Improvement in both biochemical and functional parameters have been reported [Borgwardt et al 2018, Lund et al 2018]. ERT with velmanase alfa was approved by the European Medical Agency in July 2018. Velmanase alfa has been very well tolerated and is now regarded as a standard treatment for alpha-mannosidosis.
Note: ERT has been studied extensively as a treatment for alpha-mannosidosis. The effects of ERT in knockout mice could be seen in both thin layer chromatography and histology. At lower doses, the clearing of oligosaccharides in spleen and kidney tissue was obvious, but not in brain. However, with increased enzyme doses there was also an effect both in the peripheral and central nervous system. In addition to reduced brain pathology, the mice showed reduced ataxia on treadmill testing. Although only a stabilization of findings was expected, a significant improvement both on pathologic and clinical parameters was observed in the animals [Damme et al 2015, Stroobants et al 2017].
Some affected individuals, including those who have had bone marrow transplantation (BMT), may require symptomatic treatment. The overall aim is to prevent complications and to optimize quality of life.
Medical measures
* Early use of antibiotics for bacterial infections. A clinical consequence of the immunodeficiency is that bacterial and viral infections must be treated with vigilance.
* Hearing aids as early as possible for individuals with sensorineural hearing loss to improve hearing and enhance speech development and social functioning
* Insertion of PE (pressure-equalizing) tubes to reduce the conductive/mechanical component of hearing loss from fluid in the middle ear
* Glasses (spectacles) to correct refractive error to improve vision. Although lens replacement for cataract is a standard procedure in alpha-mannosidosis, corneal transplantation can be difficult; postoperative complications include astigmatism (which may be correctable with repeat surgery, laser treatment, or optical devices).
* Physiotherapy including hydrotherapy to avoid strain on the joints
* Use of a wheelchair if necessary
* Treatment of osteoporosis or osteopenia identified on bone densitometry with palmidronate (Aredia®) monthly or zoledronic acid (Aclasta®) once a year
* Orthopedic intervention if necessary. Special shoes may help with ankle and foot support.
* Ventriculocaval shunt for communicating hydrocephalus
Note: Ventriculoperitoneal shunts may cause ascites because of the reduced absorptive capacity of the peritoneal cavity [Malm, personal communication]. Therefore, ventriculocaval shunts are preferred.
Educational opportunities / social considerations
* Use of sign language in individuals with significant hearing loss
* Early educational intervention for development of social skills
* Speech therapy to improve speech
* Special education to maximize learning
* Planning housing for possible future wheelchair use
### Prevention of Primary Manifestations
Most affected individuals are clinically normal at birth. Since alpha-mannosidosis can be treated with BMT, and possibly also by ERT in the future, there is a pressing need for newborn screening to identify affected individuals early, before the onset of severe irreversible pathology [Meikle et al 2006].
### Prevention of Secondary Complications
Because of immunodeficiency, affected individuals should be included in prophylactic vaccination programs.
The tendency to develop caries as a result of poor tooth quality can be reversed or delayed by good tooth hygiene or dental support [Malm, personal observation].
Regular physiotherapy to increase muscle strength may help compensate for the slowly progressive ataxia [Malm, personal observation].
### Surveillance
Suggested serial monitoring to evaluate severity and rate of disease progression:
* Medical history (annually) including number and type of infections, hearing, weight, development, irritability, depression, change in social, domestic, school- or work-related activities, ability to walk distances, diarrhea, muscle pain, joint aches or reduced range of movement, and bone pain
* Physical examination (annually) including otoscopy, ophthalmoscopy, heart and lungs, joint range of motion, gait, neurologic status, and orthopedic evaluation. In children, attention to growth (height, weight, and especially head circumference using standardized growth charts)
* Examination by an otolaryngologist to detect impaired hearing and middle-ear infections
* Audiometry. If intellectual disability makes cooperation difficult, brain stem evoked response testing
* Ophthalmologic examination to detect corneal opacities, myopia, hyperopia, and strabismus
* Neuropsychological testing to establish functional level and learning capacities
* Blood tests. PLOT and C-reactive protein in case of inflammation, serum concentrations of alanine aminotransferase for evaluation of concomitant liver disease, and creatinine for assessment of renal function. Immunologic status, focusing on SLE, is recommended.
* Skeletal assessment. Plain radiographs of the head, knees (anterior-posterior view), spine (lateral view), and any symptomatic sites
* Bone densitometry every two to five years to assess osteopenia
### Evaluation of Relatives at Risk
At-risk sibs should be tested either prenatally or in the newborn period as they will benefit from early intervention (see Treatment of Manifestations).
Evaluations can include:
* Molecular genetic testing if the pathogenic variants in the family are known;
* Assay of acid alpha-mannosidase enzyme activity in leukocytes or other nucleated cells if the pathogenic variants in the family are not known.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Bone marrow transplantation (BMT) has been tried as a treatment for alpha-mannosidosis. Early diagnosis and prompt treatment with BMT increases the chances of preventing cognitive decline and improving symptoms. However, more research is necessary to determine the long-term safety and efficacy of this potential therapy. BMT is not without drawbacks. The procedure carries the risk of serious complications including graft-versus-host disease (GVHD) and other long-term and late effects as described by Mynarek et al [2012]. Two of 17 individuals died of procedure-related causes, two developed severe GVHD, and six developed chronic GVHD. After BMT, affected individuals made developmental progress, although normal development was not achieved. The perfect donor is familial HLA-identical, but often this type of donor cannot be identified, in which case enzyme replacement therapy (ERT) will be the best option.
Gene therapy is also being studied as a possible therapy for some lysosomal storage disorders. Given the permanent transfer of the normal gene, which can produce active enzyme, this form of therapy is theoretically most likely to lead to a cure. However, at this time, there are many technical difficulties to resolve before gene therapy can succeed.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
### Other
Because of the limited number of affected individuals with psychiatric symptoms, no conclusion about the benefit of various psychotropic drugs can be made at this time. However, to date, olanzapine 5-15 mg at bedtime, has been used in several affected individuals with some success [Malm, unpublished observations].
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Alpha-Mannosidosis
|
c0024748
| 28,162 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1396/
| 2021-01-18T20:46:43 |
{"mesh": ["D008363"], "synonyms": ["α-Mannosidosis"]}
|
Human disease caused by protist parasites
This article is about visceral leishmaniasis in humans. For the disease in canids, see canine leishmaniasis.
Visceral leishmaniasis
kālā āzār
Other namesBlack fever, and Dumdum fever[1]
Amastigotes in a chorionic villus
Pronunciation
* Kala-azar: (UK: /ˌkɑːlə əˈzɑːr/
SpecialtyInfectious disease
Visceral leishmaniasis (VL), also known as kala-azar,[2] is the most severe form of leishmaniasis and, without proper diagnosis and treatment, is associated with high fatality.[3] Leishmaniasis is a disease caused by protozoan parasites of the genus Leishmania.
The parasite migrates to the internal organs such as the liver, spleen (hence "visceral"), and bone marrow, and, if left untreated, will almost always result in the death of the host. Signs and symptoms include fever, weight loss, fatigue, anemia, and substantial swelling of the liver and spleen. Of particular concern, according to the World Health Organization (WHO), is the emerging problem of HIV/VL co-infection.[4]
This disease is the second-largest parasitic killer in the world (after malaria), responsible for an estimated 20,000 to 30,000 deaths each year worldwide.[5][6]
R.B. Sir Upendranath Brahmachari (Bengali: উপেন্দ্রনাথ ব্রহ্মচারী) (19 December 1873 – 6 February 1946) was an Indian scientist and a leading medical practitioner of his time. He synthesised ureastibamine (carbostibamide) in 1922 and determined that it was an effective substitute for the other antimony-containing compounds in the treatment of kala-azar (visceral leishmaniasis) which is caused by a protozoan, Leishmania donovani.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Life cycle
* 3 Regulatory T and B cells
* 4 Diagnosis
* 5 Prevention
* 6 Treatments
* 7 Prognosis
* 7.1 Protective immunity
* 7.2 Non-protective immunity
* 8 Epidemiology
* 9 History
* 10 Research
* 11 References
* 12 External links
## Signs and symptoms[edit]
When people develop visceral leishmaniasis, the most typical symptoms are fever and the enlargement of the spleen, with enlargement of the liver sometimes being seen as well. The blackening of the skin that gave the disease its common name in India does not appear in most strains of the disease, and the other symptoms are very easy to mistake for those of malaria. Misdiagnosis is dangerous, as without proper treatment the mortality rate for kala-azar is close to 100%. L. donovani itself is not usually the direct cause of death in kala-azar sufferers, however. Pneumonia, tuberculosis, and dysentery are omnipresent in the immuno-depressed regions where leishmaniasis thrives, and, as with AIDS, it is these opportunistic infections that are more likely to kill, flaring up in a host whose immune system has been weakened by the L. donovani infection. Progress of the disease is extremely variable, taking anywhere from one to twenty weeks, but a typical duration for the Sudanese strain of the disease is narrower, between twelve and sixteen weeks.[citation needed]
Even with recovery, kala-azar does not always leave its hosts unmarked. Some time after successful treatment—generally a few months with African kala-azar, or as much as several years with the Indian strain—a secondary form of the disease may set in, called post kala-azar dermal leishmaniasis, or PKDL. This condition manifests first as small, measle-like skin lesions on the face, which gradually increase in size and spread over the body. Eventually the lesions may coalesce to form disfiguring, swollen structures resembling leprosy, and occasionally causing blindness if they spread to the eyes. (This disease is not the same as cutaneous leishmaniasis, a milder disease caused by another protozoan of the Leishmania genus which also causes skin lesions.)[7]
## Cause[edit]
Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.[8]
The insect vectors are species of sandfly of the genus Phlebotomus in the Old World, and of Lutzomyia in the New World. Sandflies are tiny flies, measuring 3–6 mm long by 1.5–3 mm in diameter, and are found in tropical or temperate regions throughout the world. The sandfly species Lutzomyia longipalpis is the primary vector of this disease.[9] The larvae grow in warm, moist organic matter (such as old trees, house walls, or waste) making them hard to eradicate.[citation needed]
Visceral Leishmaniasis/kala-azar samples from India revealed the presence of not only the primary causative protozoan parasite, i.e. Leishmania donovani (LD) but also co-infection with another protozoan member called Leptomonas seymouri (LS). The latter parasite (LS) further contained a RNA virus known as Leptomonas seymouri narna-like virus 1 (Lepsey NLV1). So, it appears that a great majority of kala-azar victims in the Indian subcontinent are exposed to a RNA virus in LS, the co-infecting parasite with LD i.e. the "LD-LS-Lepsey NLV1 triple pathogen" phenomenon.[10]
### Life cycle[edit]
The life cycle of Leishmania is completed in two hosts, humans and sandflies. The adult female sandfly is a bloodsucker, usually feeding at night on sleeping prey. When the fly bites an individual infected with Leishmania, the pathogen is ingested along with the prey's blood. The protozoan is in the smaller of its two forms, called an amastigote, which is round, non-motile, and only 3–7 micrometers in diameter. Inside the stomach of the sandfly, the amastigotes quickly transform into elongated and motile forms called the promastigotes. Promastigote is spindle-shaped, triple the size of the amastigote, and has a single flagellum that allows mobility. The promastigotes live extracellularly in the alimentary canal, reproducing asexually, then migrate to the proximal end of the gut where they become poised for a regurgitational transmission. As the fly bites, the promastigotes are released from the proboscis and introduced locally at the bite site.[11][12]
Once inside the human host, promastigotes invade macrophages. Inside the cells they transform back into the smaller amastigote form. The amastigotes replicate in the most hostile part of the macrophage cell, inside the phagolysosome, whose normal defensive response they are able to prevent. After repeated multiplication, they break down their host cell by sheer pressure of mass, but there is some recent speculation that they are able to leave the cell by triggering the exocytosis response of the macrophage.[13] The daughter cells protozoans then migrate to fresh cells or through the bloodstream to find new hosts. In this way the infection is progressive, spreading to the host's mononuclear phagocyte system, particularly the spleen and liver. The free amastigotes in peripheral tissues are then ingested by sandfly to enter another cycle.[14][15][16][17]
## Regulatory T and B cells[edit]
The CMI that kills Leishmania also produces inflammation. If the inflammation is excessive, it can cause tissue damage. The role of regulatory T and regulatory B cells is to suppress CMI enough to prevent tissue damage.[18][19] However, an excessive regulatory response can prevent clearance of Leishmania and could explain the anergy of VL, poor response to drug treatment, development of PKDL, and relapses. A role for regulatory cells in VL has long been suspected.[20] A variety of regulatory T and B cells have been implicated in VL, including Type 1 T helper cells that secrete IL-10 in addition to IFN-γ, natural T reg, Tr1, CD8+ T reg, and B reg. All of these lymphocytes act, at least in part, by secreting IL-10 and other suppressive cytokines.[citation needed]
CD4+ T regs are present at increased frequency in the bone marrow of VL patients, are one source of IL-10, and proliferate in response to Leishmania antigen.[21] Levels of FoxP3 mRNA were also up-regulated in lesional tissue from PKDL patients.[22] However, T regs are not elevated in spleen cells from VL patients nor does depletion of T regs increase Leishmania antigen specific IFN-γ secretion[23] The highest levels of IL-10 mRNA in spleen cells is in CD8+ and other non-FoxP3+ T cells.[24] White blood cell CD8+ T cells from VL patients have elevated IL-10 levels.[25] There is a 9.6 fold increase in IL-10 expressing CD8+ T cells among PBMC lymphocytes from PKDL patients.[22] In the one study of T cell clones from VL patients, the clones isolated from VL PBMC were 100% CD8+.[26] When mixed with self PBMC one or three years after successful treatment the CD8+ T cells decreased Leishmania antigen specific proliferation and IFN-γ secretion and increased IL-10 secretion. Depletion of CD8+ T cells from VL PBMC stopped endogenous IL-10 secretion but increased Leishmania antigen specific IL-10 secretion, suggesting that CD8+ regulatory T cells are responsible for endogenous IL-10 secretion.[27] CD4+ clones could only be isolated from VL PBMC after CD8+ T cell depletion. The CD4+ clones had little effect on IL-10 secretion but decreased IFN-γ secretion when mixed with self PBMC collected after successful treatment.[citation needed]
Regulatory B cells are known to favor development of regulatory T cells and suppress development of Type 1 T helper cells by producing IL-10 and other down-regulatory cytokines.[19] IL-10 levels are elevated in B cells from VL PBMC.[25] A study of dogs with naturally acquired VL showed that the percentage of regulatory B cells increased three-fold during VL.[28] Depletion of B cells increased CD4+ T cell proliferation and IFN-γ secretion but decreased IL-10 secretion. Blocking IL-10 or programmed cell death receptors on B cells increased Leishmania antigen specific T cell proliferation and IFN-γ secretion. Co-culture of T cells with B cells decreased the percentage of CD4+ T cell proliferation and IFN-γ secretion four-fold.[citation needed]
## Diagnosis[edit]
The gold standard for diagnosis is visualization of the amastigotes in splenic aspirate or bone marrow aspirate.[citation needed] This is a technically challenging procedure that is frequently unavailable in areas of the world where visceral leishmaniasis is endemic.[citation needed]
Serological testing is much more frequently used in areas where leishmaniasis is endemic. A 2014 Cochrane review evaluated different rapid diagnostic tests. One of them (the rK39 immunochromatographic test) gave correct, positive results in 92% of the people with visceral leishmaniasis and it gave correct, negative results in 92% of the people who did not have the disease. A second rapid test (called latex agglutination test) gave correct, positive results in 64% of the people with the disease and it gave correct, negative results in 93% of the people without the disease. Other types of tests have not been studied thoroughly enough to ascertain their efficacy.[29]
The K39 dipstick test is easy to perform, and village health workers can be easily trained to use it. The kit may be stored at ambient temperature and no additional equipment needs to be carried to remote areas. The DAT anti-leishmania antigen test, standard within MSF, is much more cumbersome to use and appears not to have any advantages over the K39 test.[30]
There are a number of problems with serological testing: in highly endemic areas, not everyone who becomes infected will actually develop clinical disease or require treatment. Indeed, up to 32% of the healthy population may test positive, but not require treatment.[31][32] Conversely, because serological tests look for an immune response and not for the organism itself, the test does not become negative after the patient is cured, it cannot be used as a check for cure, or to check for re-infection or relapse.[33] Likewise, patients with abnormal immune systems (e.g., HIV infection) will have false-negative tests.[34]
Other tests being developed include detects erythrosalicylic acid.[33]
## Prevention[edit]
As of 2018, there are no vaccines or preventive drugs for visceral leishmaniasis, but vaccines are in development.[35][36] The most effective method to prevent infection is to protect from sand fly bites. To decrease the risk of being bitten, these precautionary measures are suggested:
* Outdoors:
1\. Avoid outdoor activities, especially from dusk to dawn, when sand flies generally are the most active.
2\. When outdoors (or in unprotected quarters), minimize the amount of exposed (uncovered) skin to the extent that is tolerable in the climate. Wear long-sleeved shirts, long pants, and socks; and tuck your shirt into your pants.
3\. Apply insect repellent to exposed skin and under the ends of sleeves and pant legs. Follow the instructions on the label of the repellent. The most effective repellents generally are those that contain the chemical DEET (N,N-diethylmetatoluamide).
* Indoors:
1\. Stay in well-screened or air-conditioned areas.
2\. Keep in mind that sand flies are much smaller than mosquitoes and therefore can get through smaller holes.
3\. Spray living/sleeping areas with an insecticide to kill insects.
4\. If you are not sleeping in a well-screened or air-conditioned area, use a bed net and tuck it under your mattress. If possible, use a bed net that has been soaked in or sprayed with a pyrethroid-containing insecticide. The same treatment can be applied to screens, curtains, sheets, and clothing (clothing should be retreated after five washings)."[35]
## Treatments[edit]
As with many diseases in developing nations, (including trypanosomiasis and malaria) effective and affordable chemotherapy is sorely lacking and parasites or insect vectors are becoming increasingly resistant to existing anti-parasite drugs. Possibly due to the lack of financial return, new drugs are slow to emerge and much of the basic research into potential drug targets takes place in universities, funded by charitable organizations. Product Development Partnership, Drugs for Neglected Diseases initiative works on the development of new treatments (combination treatments and new chemical entities) for visceral leishmaniasis.[37]
The traditional treatment is with pentavalent antimonials such as sodium stibogluconate and meglumine antimoniate. Resistance is now common in India, and rates of resistance have been shown to be as high as 60% in parts of Bihar, India.[38][39]
The treatment of choice for visceral leishmaniasis acquired in India is now amphotericin B[40] in its various liposomal preparations.[41][42] In East Africa, the WHO recommended treatment is SSG&PM (sodium stibogluconate and paromomycin) developed by Drugs for Neglected Diseases initiative (DNDi) in 2010.[43]
Miltefosine is the first oral treatment for this disease. The cure rate of miltefosine in Phase III clinical trials is 95%; Studies in Ethiopia show that is also effective in Africa. In HIV immunosuppressed people which are coinfected with leishmaniasis it has shown that even in resistant cases 2/3 of the people responded to this new treatment. Miltefosine has received approval by the Indian regulatory authorities in 2002, in Germany in 2004 and in U.S.A. in 2014.[44] It is now registered in many countries.[example needed]
The drug is generally better tolerated than other drugs. Main side effects are gastrointestinal disturbance in the first or second day of treatment (a course of treatment is 28 days) which does not affect the efficacy. Because it is available as an oral formulation, the expense and inconvenience of hospitalization is avoided, and outpatient distribution of the drug becomes an option, making miltefosine a drug of choice. However, there are some important disadvantages: 1) there is evidence of reduced efficacy after a decade of use[45] 2) it is teratogenic and cannot be used in women of child-bearing age without anticonception during and for 4 months after treatment.
Incomplete treatment has been cited as a major reason of death from visceral leishmaniasis.[3]
The nonprofit Institute for OneWorld Health has adopted the broad spectrum antibiotic paromomycin for use in treating VL; its antileishmanial properties were first identified in the 1980s. A treatment with paromomycin costs about US$15. The drug had originally been identified in the 1960s.[46] The Indian government approved paromomycin for sale and use in August 2006.[47]
## Prognosis[edit]
### Protective immunity[edit]
Immunity to Leishmania is determined by the interplay of white blood cells, cytokines, immune complexes, and genetic and environmental factors.[48] Protective immunity develops either after successful treatment of VL (cured) or after asymptomatic infections that resolve without development of VL (asymptomatic).[49][50] Both types of immunity are characterized by cell-mediated immunity (CMI), including skin test positivity, proliferation, and interleukin 2 (IL-2), interferon gamma (IFN-γ), and interleukin 12 (IL-12) secretion by peripheral blood mononuclear cells (PBMC) in response to Leishmania antigens.[51][52][53][54][55] T cells isolated from both cured and asymptomatic PBMC activate autologous macrophages to kill intracellular amastigotes.[56] IFN-γ activates macrophages to kill intracellular parasites so its role in VL has been studied extensively and IFN-γ production is often used as a marker of protective immunity. Cured PBMC generally secrete less IFN-γ and more interleukin 10 (IL-10) in response to Leishmania antigens than asymptomatic PBMC.[26] IL-12 is important in the development and maintenance of Type 1 T helper cell responses and protective immunity so its role in VL has also been studied. Addition of IL-12 to some VL PBMC increases proliferation and IFN-γ secretion in response to Leishmania antigens and anti-IL-12 inhibits proliferation and IFN-γ secretion by some cured PBMC.[55][57][58][59] Other cytokines also appear to be important in immunity to Leishmania but their roles are not as well characterized.
Leishmania antigen stimulation of PBMC from cured patients show a mixed T helper cell and regulatory T cell response.[60] Both CD4+ and CD8+ T cells contributed to IFN-γ production.[24][61] Studies of Leishmania antigen specific T cell clones from cured patient PBMC confirm that cured patients have a mixed T cell response that involves both CD4+ helper T cells and CD4+ and CD8+ regulatory T cells.[27][62][63] Two studies of asymptomatic T cell clones show that most have Type 1 profiles and secrete more IFN-γ than T cell clones from cured patients. Neither study revealed the presence of Type 2 or regulatory T cells.[26][63] Some clones secreted soluble factors that caused the death of CD8+ regulatory T cells but not CD4+ T cells from VL patients, which might explain the strong protective immunity of asymptomatic patients.[58]
### Non-protective immunity[edit]
VL patients are unable to clear their infections because they lack CMI. This anergy may be limited to Leishmania antigens or extend to mitogens and other antigens as the disease progresses.[64] In addition to skin test negativity, VL patient PBMC do not proliferate or secrete IL-2 or IFN-γ in response to Leishmania antigens.[51][52][65] Memory T cells may be depleted in VL patient PBMC.[66][67] Since IL-10 is known to suppress innate and acquired immunity and prevent IFN-γ from activating macrophages, its role in VL has been studied extensively and elevated IL-10 production is often used as a marker of non-protective immunity in VL. Elevated levels of IL-10 in the plasma, infected tissues, and PBMC of VL patients accompany the anergy of VL.[26][66][68][69][70][71] PKDL patients also have elevated IL-10 levels.[22] VL patients with the highest IL-10 levels are more likely to be unresponsive to treatment and progress to PKDL.[21][72] PBMC secretion of IL-10 without the addition of Leishmania antigen (endogenous) is inversely correlated with antigen specific IFN-γ secretion but Leishmania antigen specific IL-10 and IFN-γ secretion are not correlated, suggesting that endogenous secretion is more important in pathology.[27] Addition of anti-IL-10 increases proliferation and IFN-γ secretion by PBMC from some patients.[54][58] Both CD4+ and CD8+ T cells have been shown to contribute to IL-10 secretion by VL PBMC.[25][61] The high level of immune complexes characteristic of VL have also been shown to increase IL-10 levels.[73]
## Epidemiology[edit]
See also: Kala azar in India
More than 90% of the global burden of visceral leishmaniasis (VL) was contributed by seven countries in 2015: Brazil, Ethiopia, India, Kenya, Somalia, South Sudan and Sudan.[3] In India, more than 70% VL cases are reported from the state of Bihar.[3] North Bihar, India (including Araria, Purnea, and Kishanganj) is the endemic zone of this disease.The disease is endemic in more than 60 countries. In Iran this includes Ardabil, Fars, and North Khorasan.
But, while the disease's geographical range is broad, it is not continuous. The disease clusters around areas of drought, famine, and high population density. In Africa, this has meant a knot of infection centers mostly in South Sudan, Sudan, Ethiopia, Kenya, and Somalia. Living conditions here have changed very little in the past century, and the people are not normally very mobile. Parts of South Sudan, in particular the Upper Nile region, are almost totally cut off from the rest of the country, and most people tend to remain at their place of birth although there have been huge population movements due to the civil war., leading to severe epidemics.[74]
## History[edit]
See also: Leishmaniasis § History
Kala-azar first came to the attention of Western doctors in 1824 in Jessore, India (now Bangladesh), where it was initially thought to be a form of malaria. Assam gave kala-azar one of its common names, Assam fever.[75] Another common name, kala-azar (Hindustani: काला आज़ार (Devanagari) کالا آزار (Nastaleeq) kālā āzār), is derived from kala which means black in Sanskrit, as well as in the languages descended from it, including Assamese,[76] Hindi and Urdu;[77] the word azar means Fever in Persian and Hindustani;[76][78] as such the disease is named for the darkening of the skin on the extremities and abdomen that is a symptom of the Indian form of the disease. The agent of the disease was also first isolated in India by Scottish doctor William Leishman (who observed the parasite in spleen smears of a soldier who died of the disease in Dumdum, Calcutta, India[79] \- hence the name dumdum fever) and Irish physician Charles Donovan, working independently of each other. As they published their discovery almost simultaneously, the species was named for both of them—Leishmania donovani.
The miracle of urea stibamine, drawn by Upendranath Brahmachari himself. The death rate is drastically declined from nearly 6300 to 750 within ten years in Assam.
Today, the name kala-azar is used interchangeably with the scientific name visceral leishmaniasis for the most acute form of the disease caused by L. donovani. The disease is endemic in West Bengal, where it was first discovered, but is seen at its most deadly in north and east Africa. It can also be found throughout the Arab world and southern Europe (where the causative organism is L. infantum), and a slightly different strain of the pathogen, L. chagasi, is responsible for leishmaniasis in the new world. Several species of canines serve as reservoir hosts of L. infantum (chagasi).[citation needed]
Contemporary life has made itself felt even here, however—not as "progress" but in the form of the many small wars of Africa's post-colonial era. In the Sudan, where civil war has been continuous since 1983, the violence has been concentrated in the more populated south, and kala-azar was concentrated there too. But the wars have driven a steady stream of refugees out of the region, and these traveled either across the southern border or into the remoter western part of the country called the Upper Nile, where both war and the disease that went with it had not yet penetrated.[74]
These refugees, moving at foot-speed, carried the disease with them, and when it arrived it hit the Upper Nile with a force comparable to smallpox hitting the American Indians. The isolated people of the Upper Nile had no access to medicine or education about the new disease among them. Worse, their immune systems were defenseless against this new pathogen, foreign to them though it came only from another part of their own country. One village at the center of the epidemic, Duar, was left with four survivors out of a population of a thousand, and from the late eighties to the mid-nineties a total of 100,000 succumbed to the sickness in that region alone. In the words of Jill Seaman, the doctor who led relief efforts in the Upper Nile for the French organization Médecins Sans Frontières, "Where else in the world could 50% of a population die without anyone knowing?"[80] Due to the South Sudanese Civil War, kala-azar has spread rapidly among the population.[81]
Upendranath Brahmachari
The Indian medical practitioner Upendra Nath Brahmachari was nominated for the Nobel Prize in Physiology or Medicine in 1929 for his discovery of ureastibamine (an antimonial compound for the treatment of kala-azar) and a new disease, post kala-azar dermal leishmaniasis.[82] Brahmachari's cure for visceral leishmaniasis was the urea salt of para-amino-phenyl stibnic acid which he called Urea Stibamine.[83]
During the nineteenth century, kala-azar was discovered near moving bodies of water in southeast Asia.[84] Dr. Jean Dow and Dr. William McClure, are credited with finding the cure for the disease in China. Largely uncredited for her contribution, Dr. Jean Dow was one of the first to isolate the microorganism in China and conduct clinical studies on its origin.[85] This work continued under Ernest Struthers and Lionel Napier at the School of Tropical Medicine at Calcutta to discover that kala-azar was transmitted by sandflies.[86][87]
## Research[edit]
Combination drug therapies are currently under investigation, particularly by the Drugs for Neglected Diseases initiative (DNDi). Combination therapies allow for the use of existing drugs in combination, each in lower doses, which helps to decrease the incidence of severe side effects and drug toxicity, as well as the risk for development of resistance against the drugs; they have been shown to be cost-effective strategies.[88] Comparative homology modelling of the enzyme Hypoxanthine-guanine phosphoribosyl transferase (HGPRT; EC 2.4.2.8) in L. donovani suggest that among all of the computationally screened compounds, pentamidine, 1,3-dinitroadamantane, acyclovir and analogs of acyclovir had higher binding affinities than the real substrate (guanosine monophosphate).[89]
DNDi has a number of compounds in preclinical and phase 1 development,[90] but no novel drugs are expected in the next 5 years.[91] In the meantime, new combination therapies, and well as improvements to existing drugs targets, are under development. Single-dosage administrations of liposomal amphotericin B have been shown to be effective, and oral formulations are currently under development to increase access and facilitate distribution of the efficacious drug in the field.[92][93][94]
A 2018 study published details of a new potential preclinical drug candidate for the treatment for visceral leishmaniasis with an anti-leishmanial drug-like chemical series based on a pyrazolopyrimidine scaffold.[95]
There is no good vaccine candidate which prevents kala azar. A 2019 paper described designing an immunologic adjuvant which would make a VL vaccine more effective.[96]
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 426. ISBN 978-0-7216-2921-6.
2. ^ "WHO | Visceral leishmaniasis". www.who.int. Retrieved 2015-10-05.
3. ^ a b c d Das, Aritra; Karthick, Morchan; Dwivedi, Shweta; Banerjee, Indranath; Mahapatra, Tanmay; Srikantiah, Sridhar; Chaudhuri, Indrajit (2016-11-01). "Epidemiologic Correlates of Mortality among Symptomatic Visceral Leishmaniasis Cases: Findings from Situation Assessment in High Endemic Foci in India". PLOS Neglected Tropical Diseases. 10 (11): e0005150. doi:10.1371/journal.pntd.0005150. ISSN 1935-2735. PMC 5117587. PMID 27870870.
4. ^ "Leishmaniasis and HIV co-infection". WHO.
5. ^ "Leishmaniasis". WHO Fact sheet N°375. World Health Organization. Retrieved 23 September 2014.
6. ^ Desjeux P. (2001). "The increase of risk factors for leishmaniasis worldwide". Transactions of the Royal Society of Tropical Medicine and Hygiene. 95 (3): 239–43. doi:10.1016/S0035-9203(01)90223-8. PMID 11490989.
7. ^ Burza, Sakib; Croft, Simon L.; Boelaert, Marleen (2018-09-15). "Leishmaniasis". The Lancet. 392 (10151): 951–970. doi:10.1016/S0140-6736(18)31204-2. ISSN 0140-6736. PMID 30126638. S2CID 208790410.
8. ^ Chappuis F, et al. (2007). "Visceral leishmaniasis: what are the needs for diagnosis, treatment and control?" (PDF). Nature Reviews Microbiology. 5 (11): 873–82. doi:10.1038/nrmicro1748. PMID 17938629. S2CID 6963295.
9. ^ Alexander, Bruce; Lopes de Carvalho, Renata; McCallum, Hamish; Pereira, Marcos Horácio (December 2002). "Role of the Domestic Chicken (Gallus gallus)in the Epidemiology of Urban Visceral Leishmaniasis in Brazil". Emerging Infectious Diseases. 8 (12): 1480–1485. doi:10.3201/eid0812.010485. PMC 2738513\. PMID 12498667.
10. ^ Sukla, Soumi; Roy, Syamal; Sundar, Shyam; Biswas, Subhajit (2017). "Leptomonas seymouri narna-like virus 1 and not leishmaniaviruses detected in kala-azar samples from India". Archives of Virology. 162 (12): 3827–35. doi:10.1007/s00705-017-3559-y. PMID 28939968. S2CID 31450182.
11. ^ Sacks, DL (2001). "Leishmania-sand fly interactions controlling species-specific vector competence". Cellular Microbiology. 3 (4): 189–96. doi:10.1046/j.1462-5822.2001.00115.x. PMID 11298643. S2CID 39033146.
12. ^ Ilg, T; Stierhof, YD; Wiese, M; McConville, MJ; Overath, P (1994). "Characterization of phosphoglycan-containing secretory products of Leishmania". Parasitology. 108 (Suppl): S63-71. doi:10.1017/s0031182000075739. PMID 8084657.
13. ^ Lodge, R; Descoteaux, A (2008). Leishmania invasion and phagosome biogenesis. Subcellular Biochemistry. 47. pp. 174–81. doi:10.1007/978-0-387-78267-6_14. ISBN 978-0-387-78266-9. PMID 18512351.
14. ^ Chappuis, François; Sundar, Shyam; Hailu, Asrat; Ghalib, Hashim; Rijal, Suman; Peeling, Rosanna W.; Alvar, Jorge; Boelaert, Marleen (2007). "Visceral leishmaniasis: what are the needs for diagnosis, treatment and control?". Nature Reviews Microbiology. 5 (11): S7–S16. doi:10.1038/nrmicro1748. PMID 17938629. S2CID 6963295.
15. ^ Pulvertaft, RJ; Hoyle, GF (1960). "Stages in the life-cycle of Leishmania donovani". Transactions of the Royal Society of Tropical Medicine and Hygiene. 54 (2): 191–6. doi:10.1016/0035-9203(60)90057-2. PMID 14435316.
16. ^ Chatterjee, K.D. (2009). Parasitology (protozoology and helminthology) in relation to clinical medicine (13th ed.). New Delhi: CBC Publishers. pp. 67–72. ISBN 9788123918105.
17. ^ Pulvertaft, R.J.V.; Hoyle, G.F. (1960). "Stages in the life-cycle of Leishmania donovani". Transactions of the Royal Society of Tropical Medicine and Hygiene. 54 (2): 191–196. doi:10.1016/0035-9203(60)90057-2. PMID 14435316.
18. ^ Belkaid Y (2007). "Regulatory T Cells and Infection: a Dangerous Necessity" (PDF). Nature Reviews Immunology. 7 (11): 875–88. doi:10.1038/nri2189. PMID 17948021. S2CID 28127648.
19. ^ a b Rosser E, Mauri C (2015). "Regulatory B Cells: Origin, Phenotype, and Function". Immunity. 42 (4): 607–12. doi:10.1016/j.immuni.2015.04.005. PMID 25902480.
20. ^ Carvalho E, Bacellar O, Barral A, et al. (1989). "Antigen-specific Immunosuppression in Visceral Leishmaniasis Is Cell Mediated". J. Clin. Invest. 83 (3): 860–4. doi:10.1172/JCI113969. PMC 303759. PMID 2522103.
21. ^ a b Rai A, Chandreshwar P, Singh A, et al. (2012). "Regulatory T Cells Suppress T Cell Activation at the Pathologic Site in Human Visceral Leishmaniasis". PLOS ONE. 7 (2): e31551. Bibcode:2012PLoSO...731551R. doi:10.1371/journal.pone.0031551. PMC 3275558. PMID 22347492.
22. ^ a b c Ganguly S, Mukhopadhyay D, Das N, et al. (2010). "Enhanced Lesional FoxP3 Expression and Peripheral Anergic Lymphocytes Indicate a Role for Regulatory T Cells in Indian Post-Kala-azar Dermal Leishmaniasis". J. Invest. Dermatol. 130 (4): 1013–22. doi:10.1038/jid.2009.393. PMID 20032994.
23. ^ Nylen S, Maurya R, Eidsmo L, et al. (2007). "Splenic Accumulation of IL-10 mRNA T Cells Distinct from CD4+ CD25+ (FoxP3+) Regulatory T Cells in Human Visceral Leishmaniasis". J Exp Med. 204 (4): 805–17. doi:10.1084/jem.20061141. PMC 2118563. PMID 17389235.
24. ^ a b Gautam S, Kumar R, Singh N, et al. (2014). "CD8 T Cell Exhaustion in Human Visceral Leishmaniasis". J. Infect. Dis. 209 (2): 290–99. doi:10.1093/infdis/jit401. PMC 3873784. PMID 23922369.
25. ^ a b c Peruhype-Magalhaes V, Martins-Filho O, Prata A, et al. (2006). "Mixed Inflammatory/Regulatory Cytokine Profile Marked by Simultaneous Raise of Interferon-g and Interleukin-10 and Low Frequency of Tumor Necrosis Factor-a Monocytes Are Hallmarks of Active Human Visceral Leishmaniasis Due to Leishmania chagasi Infection". Clin. Exp. Immunol. 146 (1): 124–32. doi:10.1111/j.1365-2249.2006.03171.x. PMC 1809731. PMID 16968407.
26. ^ a b c d Holaday B, Pompeu M, Jeronimo S, et al. (1993). "Potential Role for Interleukin-10 in the Immunosuppression Associated with Kala-azar". J. Clin. Invest. 92 (6): 2626–32. doi:10.1172/JCI116878. PMC 288459. PMID 8254019.
27. ^ a b c Holaday B (2000). "Role of CD8+ T Cells in Endogenous Interleukin-10 Secretion Associated with Visceral Leishmaniasis". Mem. Inst. Oswaldo Cruz. 95 (2): 217–20. doi:10.1590/s0074-02762000000200013. PMID 10733741.
28. ^ Schaut R, Lamb I, Toepp A, et al. (2016). "Regulatory IgDhi B Cells Suppress T Cell Function Via IL-10 and PD-L1 during Progressive Visceral Leishmaniasis". J Immunol. 196 (10): 4100–9. doi:10.4049/jimmunol.1502678. PMC 4868652. PMID 27076677.
29. ^ Boelaert M, Verdonck K, Menten J, et al. (June 2014). "Rapid tests for the diagnosis of visceral leishmaniasis in patients with suspected disease". Cochrane Database Syst Rev. 6 (6): CD009135. doi:10.1002/14651858.CD009135.pub2. PMC 4468926. PMID 24947503.
30. ^ Chappuis F, Rijal S, Soto A, Menten J, Boelaert M (2006). "A meta-analysis of the diagnostic performance of the direct agglutination test and rK39 dipstick for visceral leishmaniasis". Br Med J. 333 (7571): 723–6. doi:10.1136/bmj.38917.503056.7C. PMC 1592383. PMID 16882683.
31. ^ Sundar S, Singh RK, Maurya R, et al. (June 2006). "Serological diagnosis of Indian visceral leishmaniasis: direct agglutination test versus rK39 strip test". Trans. R. Soc. Trop. Med. Hyg. 100 (6): 533–7. doi:10.1016/j.trstmh.2005.08.018. PMID 16325874.
32. ^ Sundar S, Maurya R, Singh RK, et al. (January 2006). "Rapid, noninvasive diagnosis of visceral leishmaniasis in India: comparison of two immunochromatographic strip tests for detection of anti-K39 antibody". J. Clin. Microbiol. 44 (1): 251–3. doi:10.1128/JCM.44.1.251-253.2006. PMC 1351954. PMID 16390983.
33. ^ a b Lockwood DN, Sundar S (October 2006). "Serological tests for visceral leishmaniasis". BMJ. 333 (7571): 711–2. doi:10.1136/bmj.38989.567083.BE. PMC 1592372. PMID 17023436.
34. ^ Pasquau F, Ena J, Sanchez R, et al. (June 2005). "Leishmaniasis as an opportunistic infection in HIV-infected patients: determinants of relapse and mortality in a collaborative study of 228 episodes in a Mediterranean region". Eur. J. Clin. Microbiol. Infect. Dis. 24 (6): 411–8. doi:10.1007/s10096-005-1342-6. PMID 15928908. S2CID 26991291.
35. ^ a b "Parasites-Leishmaniasis Prevention and Control". January 10, 2013. Retrieved April 29, 2014.
36. ^ Gillespie, Portia M.; Beaumier, Coreen M.; Strych, Ulrich; Hayward, Tara; Hotez, Peter J.; Bottazzi, Maria Elena (2016-06-03). "Status of vaccine research and development of vaccines for leishmaniasis". Vaccine. 34 (26): 2992–2995. doi:10.1016/j.vaccine.2015.12.071. ISSN 1873-2518. PMID 26973063.
37. ^ "DNDi Annual Report 2015" (PDF). Drugs for Neglected Diseases initiatives. Retrieved 2016-09-19.
38. ^ Sundar S, More DK, Singh MK, et al. (October 2000). "Failure of pentavalent antimony in visceral leishmaniasis in India: report from the center of the Indian epidemic". Clin. Infect. Dis. 31 (4): 1104–7. doi:10.1086/318121. PMID 11049798.
39. ^ Thakur CP, Narayan S, Ranjan A (September 2004). "Epidemiological, clinical & pharmacological study of antimony-resistant visceral leishmaniasis in Bihar, India" (PDF). Indian J. Med. Res. 120 (3): 166–72. PMID 15489554.
40. ^ Thakur CP, Singh RK, Hassan SM, Kumar R, Narain S, Kumar A (1999). "Amphotericin B deoxycholate treatment of visceral leishmaniasis with newer modes of administration and precautions: a study of 938 cases". Trans. R. Soc. Trop. Med. Hyg. 93 (3): 319–23. doi:10.1016/S0035-9203(99)90037-8. PMID 10492770.
41. ^ Thakur CP, Pandey AK, Sinha GP, Roy S, Behbehani K, Olliaro P (1996). "Comparison of three treatment regimens with liposomal amphotericin B (AmBisome) for visceral leishmaniasis in India: a randomized dose-finding study". Trans. R. Soc. Trop. Med. Hyg. 90 (3): 319–22. doi:10.1016/S0035-9203(96)90271-0. PMID 8758093.
42. ^ Sundar S, Mehta H, Chhabra A, et al. (March 2006). "Amphotericin B colloidal dispersion for the treatment of Indian visceral leishmaniasis". Clin. Infect. Dis. 42 (5): 608–13. doi:10.1086/500138. PMID 16447104.
43. ^ New treatment for kala azar, the most deadly parasitic disease after malaria. ScienceDaily, 23 September 2011
44. ^ FDA News Release (19 March 2014). "FDA approves Impavido to treat tropical disease leishmaniasis". FDA.
45. ^ Rijal, Suman; Ostyn, Bart; Uranw, Surendra; Rai, Keshav; Bhattarai, Narayan Raj; Dorlo, Thomas P. C.; Beijnen, Jos H.; Vanaerschot, Manu; Decuypere, Saskia; Dhakal, Subodh S.; Das, Murari Lal (2013-06-01). "Increasing Failure of Miltefosine in the Treatment of Kala-azar in Nepal and the Potential Role of Parasite Drug Resistance, Reinfection, or Noncompliance". Clinical Infectious Diseases. 56 (11): 1530–1538. doi:10.1093/cid/cit102. ISSN 1058-4838. PMID 23425958.
46. ^ A Small Charity Takes the Reins in Fighting a Neglected Disease, New York Times, July 31, 2006.
47. ^ NEW CURE FOR DEADLY VISCERAL LEISHMANIASIS (KALA-AZAR) APPROVED BY GOVERNMENT OF INDIA, Institute for OneWorld Health Press Release, Sept 8, 2006.
48. ^ Saha S, Mondal S, Banerjee, et al. (2006). "Immune Responses in Kala-azar". Indian J Med Res. 123 (3): 245–66. PMID 16778308.
49. ^ Manson-Bahr P (1961). "Immunity in Kala-azar". Trans. R. Soc. Trop. Med. Hyg. 55 (6): 550–55. doi:10.1016/0035-9203(61)90078-5. PMID 14469435.
50. ^ Manson-Bahr P (1967). "Cryptic Infections of Humans in an Endemic Kala-azar Area". E. African Med. J. 44 (4): 177–82. ISSN 0012-835X.
51. ^ a b Carvalho E, Teixeira R, Johnson W Jr (1981). "Cell Mediated Immunity in American Visceral Leishmaniasis: Reversible Immunosuppression during Acute Infection". Infect. Immun. 33 (2): 498–502. doi:10.1128/IAI.33.2.498-500.1981. PMC 350726. PMID 7275314.
52. ^ a b Carvalho E, Badaro R, Reed S, et al. (1985). "Absence of gamma interferon and interleukin 2 production during active visceral leishmaniasis". J. Clin. Invest. 76 (6): 2066–2069. doi:10.1172/JCI112209. PMC 424308. PMID 3935667.
53. ^ Carvalho E, Barral A, Pedral-Sampaio D, et al. (1992). "Immunologic Markers of Clinical Evolution in Children Recently Infected with Leishmania donovani chagasi". J. Infect. Dis. 165 (3): 535–40. doi:10.1093/infdis/165.3.535. PMID 1347057.
54. ^ a b Carvalho E, Bacellar O, Brownell C, et al. (1994). "Restoration of IFN-gamma Production and Lymphocyte Proliferation in Visceral Leishmaniasis". J. Immunol. 15 (12): 5949–56. PMID 8207220.
55. ^ a b Ghalib H, Whittle J, Kubin M, et al. (1995). "IL-12 Enhances Th-1 Type Responses in Human Leishmania donovani Infections". J. Immunol. 154 (9): 4623–9. PMID 7722314.
56. ^ Holaday B, Pompeu M, Evans T, et al. (1993). "Correlates of Leishmania-specific Immunity in the Clinical Spectrum of Infection with Leishmania chagasi". J. Infect. Dis. 167 (2): 411–17. doi:10.1093/infdis/167.2.411. PMID 8421174.
57. ^ Bacellar O, Brodskyn C, Guerreiro J, et al. (1996). "Interleukin-12 Restores Interferon-γ Production and Cytotoxic Responses in Visceral Leishmaniasis" (PDF). J. Infect. Dis. 173 (6): 1515–8. doi:10.1093/infdis/173.6.1515. PMID 8648233.
58. ^ a b c Holaday B (1999). "Immunotherapy for Visceral Leishmaniasis: Ability of Factors Produced during Anti-Leishmania Responses of Skin Test Positive Adults to Inhibit Peripheral Blood Mononuclear Cell Activities Associated with Visceral Leishmaniasis". Mem. Inst. Oswaldo Cruz. 94 (1): 55–66. doi:10.1590/S0074-02761999000100013. PMID 10029912.
59. ^ Bacellar O, D'oliveira A Jr, Jerônimo S, et al. (2000). "IL-10 and IL-12 Are the Main Regulatory Cytokines in Visceral Leishmaniasis". Cytokine. 12 (8): 1228–31. doi:10.1006/cyto.2000.0694. PMID 10930301.
60. ^ Kemp K, Kemp M, Kharazmi A, et al. (1999). "Leishmania-specific T Cells Expressing Interferon-gamma (IFN-γ) and IL-10 upon Activation Are Expanded in Individuals Cured of Visceral Leishmaniasis". Clin. Exp. Immunol. 116 (3): 500–4. doi:10.1046/j.1365-2249.1999.00918.x. PMC 1905302. PMID 10361241.
61. ^ a b Saha S, Mondal S, Ravindran R, et al. (2007). "IL-10- and TGF-B-Mediated Susceptibility in Kala-azar and Post-kala-azar Dermal Leishmaniasis: The Significance of Amphotericin B in the Control of Leishmania donovani Infection in India". J. Immunol. 179 (8): 5592–5603. doi:10.4049/jimmunol.179.8.5592. PMID 17911647.
62. ^ Kemp M, Kurtzhals J, Bendtzen K, et al. (1993). "Leishmania donovani-reactive TH1-like T Cell Clones from Individuals Who Have Recovered from Visceral Leishmaniasis". Infect. Immun. 61 (3): 1069–73. doi:10.1128/IAI.61.3.1069-1073.1993. PMC 302840. PMID 8432588.
63. ^ a b Mary C, Auriault V, Faugere B, et al. (1999). "Control of Leishmania infantum Infection Is Associated with CD8+ and Gamma-interferon and Interleukin-5 Producing CD4+ Antigen-specific T Cells". Infect. Immun. 67 (11): 5559–66. doi:10.1128/IAI.67.11.5559-5566.1999. PMC 96926. PMID 10531200.
64. ^ Ho M, Koech D, Iha D, et al. (1983). "Immune Suppression in Kenyan Visceral Leishmaniasis". Clin. Exp. Immunol. 51 (2): 207–14. PMC 1536899. PMID 6839538.
65. ^ Haldar J, Ghose S, Saha K, et al. (1983). "Cell-mediated Immune Response in Indian Kala-azar and Post-kala-azar Dermal Leishmaniasis". Infect. Immun. 42 (2): 702–7. doi:10.1128/IAI.42.2.702-707.1983. PMC 264486. PMID 6642649.
66. ^ a b Cillari E, Vitale G, Arcoleo F, et al. (1995). "In Vivo and In Vitro Cytokine and Mononuclear Cell Subsets in Sicilian Patients with Visceral Leishmaniasis". Cytokine. 7 (7): 740–5. doi:10.1006/cyto.1995.0088. PMID 8580385.
67. ^ Hailu A, van Baarle D, Knol G, et al. (2005). "T Cell and Cytokine Profiles in Human Visceral Leishmaniasis during Active and Asymptomatic or Sub-clinical Infection with Leishmania donovani". Clin. Immunol. 117 (2): 182–91. doi:10.1016/j.clim.2005.06.015. hdl:1874/380043. PMID 16125466.
68. ^ Karp C, el-Safi S, Wynn T, et al. (1993). "In vivo Cytokine Profiles in Patients with Kala-azar. Marked Elevation of Both Interleukin-10 and Interferon-gamma". J. Clin. Invest. 91 (4): 1664–8. doi:10.1172/JCI116372. PMC 288142. PMID 8097208.
69. ^ Ghalib H, Piuvezam M, Skeiky Y, et al. (1993). "Interleukin-10 Production Correlates with Pathology in Human Leishmania donovani Infections". J Clin Invest. 92 (1): 324–9. doi:10.1172/JCI116570. PMC 293600. PMID 8326000.
70. ^ Medeiros I, Castelo A, Salomão R (1998). "Presence of Circulating Levels of Interferon-gamma, Interleukin-10 and Tumor Necrosis Factor-alpha in Patients with Visceral Leishmaniasis". Rev Inst Med Trop Sao Paulo. 40 (1): 31–4. doi:10.1590/S0036-46651998000100007. PMID 9713135.
71. ^ Peruhype-Magalhaes V, Martins-Filho O, Prata A, et al. (2005). "Immune Response in Human Visceral Leishmaniasis: Analysis of the Correlation between Innate Immunity Cytokine Profile and Disease Outcome". Scand. J. Immunol. 62 (5): 487–495. doi:10.1111/j.1365-3083.2005.01686.x. PMID 16305646. S2CID 25506998.
72. ^ Gasim S, Elhassan A, Khalil E, et al. (1998). "High Levels of Plasma IL-10 and Expression of IL-10 by Keratinocytes during Visceral Leishmaniasis Predict Subsequent Development of Post-kala-azar Dermal Leishmanniasis". Clin. Exp. Immunol. 111 (1): 64–9. doi:10.1046/j.1365-2249.1998.00468.x. PMC 1904865. PMID 9472662.
73. ^ Elshafie A, Ahlin E, Mathsson L, et al. (2007). "Circulating Immune Complexes (IC) and IC-induced Levels of GM-CSF Are Increased in Sudanese Patients with Acute Visceral Leishmania donovani Infection Undergoing Sodium Stibogluconate Treatment: Implications for Disease Pathogenesis". J. Immunol. 178 (8): 5383–89. doi:10.4049/jimmunol.178.8.5383. PMID 17404324.
74. ^ a b Jean, Francois (1995). "Sudan: Speak no Evil, Do no Good". Life, Death and Aid: The Médecins Sans Frontières Report on World Crisis Intervention.
75. ^ "Mosby's Medical Dictionary, 8th edition. © 2009, Elsevier.". "kala-azar". Retrieved 2010-01-21.CS1 maint: multiple names: authors list (link)
76. ^ a b HarperCollins Publishers, 1991, 1994, 1998, 2000, 2003. "kala-azar". Retrieved 2010-01-21.CS1 maint: multiple names: authors list (link)
77. ^ Merriam-Webster's online dictionary. "kala-azar". Retrieved 2010-01-21.
78. ^ Taku, Thomas A. (1999). Framework for Industrialization in Africa. Greenwood Publishing Group. p. 77. ISBN 9780275964986. "Locally, the disease was called kala-azar or black fever, which is the meaning in the Hindustani language."
79. ^ Paniker, C.K. Jayaram (2013). Textbook of Medical Parasitology. Shorakhutte, Kathmandu, Nepal: Jaypee Brothers, Medical Publishers. p. 51. ISBN 978-93-5090-534-0.
80. ^ Dowell, William (1997). "Rescue in Sudan". Time.
81. ^ "As South Sudan implodes, America reconsiders its support for the regime". The Economist. 12 October 2017.
82. ^ Nobel Foundation (2008).The Nomination Database for the Nobel Prize in Physiology or Medicine, 1901-1951
83. ^ Upendra Nath Brahmachari: A Pioneer of Modern Medicine in India. Vigyan Prasar: Government of India
84. ^ Christensen, Erleen (2005). In War and Famine : Missionaries in China's Honan Province in the 1940s. MQUP. p. 195. ISBN 9780773572591.
85. ^ Figuring it out : science, gender, and visual culture. Shteir, Ann B., 1941-, Lightman, Bernard V., 1950- (1st ed.). Hanover, N.H.: Dartmouth College Press. 2006. ISBN 1-58465-602-6. OCLC 70673140.CS1 maint: others (link)
86. ^ "Dr. L. Everard Napier". Indian Medical Gazette. 78 (5): 252. May 1943. PMC 5158438. PMID 29012190.
87. ^ Gewurtz, Margo S. (2017-01-01). "Transnationalism in Missionary Medicine: The Case of Kala-azar in China and India, 1909–1946". Social Sciences and Missions. 30 (1–2): 30–43. doi:10.1163/18748945-03001001. ISSN 1874-8945.
88. ^ Olliaro, P., Darley, S., Laxminarayan, R.; et al. (2009). "Cost-effectiveness projections of single and combination therapies for visceral leishmaniasis in Bihar, India". Trop Med Int Health. 14 (8): 918–925. doi:10.1111/j.1365-3156.2009.02306.x. PMID 19563434. S2CID 29278489.CS1 maint: multiple names: authors list (link)
89. ^ Ansari MY, Dikhit MR, Sahoo GC, Das P (April 2012). "Comparative modeling of HGPRT enzyme of L. donovani and binding affinities of different analogs of GMP". Int. J. Biol. Macromol. 50 (3): 637–49. doi:10.1016/j.ijbiomac.2012.01.010. PMID 22327112.
90. ^ "Portfolio – DNDi". www.dndi.org. Retrieved 2020-02-13.
91. ^ den Boer, M.L., Alvar, J., Davidson, R.N.; et al. (2009). "Developments in the treatment of visceral leishmaniasis". Expert Opinion on Emerging Drugs. 14 (3): 395–410. doi:10.1517/14728210903153862. hdl:10144/127729. PMID 19708817. S2CID 32952275.CS1 maint: multiple names: authors list (link)
92. ^ Sundar, S., Chakravarty, J., Agarwal, D.; et al. (2010). "Single-dose liposomal amphotericin B for visceral leishmaniasis in India". N Engl J Med. 362 (6): 504–512. doi:10.1056/NEJMoa0903627. PMID 20147716. S2CID 7070133.CS1 maint: multiple names: authors list (link)
93. ^ Wasan, K. M., Wasan, E. K., Gershkovich, P.; et al. (2009). "Highly effective oral amphotericin B formulation against murine visceral leishmaniasis". J Infect Dis. 200 (3): 357–60. doi:10.1086/600105. PMID 19545212.CS1 maint: multiple names: authors list (link)
94. ^ Arzamani K, Fazeli R, Shirzadi MR, Raeghi S, Arzamani M, Alavinia SM. Visceral Leishmaniasis in North Khorasan Province, Iran.
95. ^ Wyllie, Susan; Thomas, Michael; Patterson, Stephen; Crouch, Sabrinia; De Rycker, Manu; Lowe, Rhiannon; Gresham, Stephanie; Urbaniak, Michael D.; Otto, Thomas D. (2018-07-25). "Cyclin-dependent kinase 12 is a drug target for visceral leishmaniasis". Nature. 560 (7717): 192–197. Bibcode:2018Natur.560..192W. doi:10.1038/s41586-018-0356-z. ISSN 0028-0836. PMC 6402543. PMID 30046105.
96. ^ Ratnapriya, S; Keerti; Sahasrabuddhe, AA; Dube, A (12 June 2019). "Visceral leishmaniasis: An overview of vaccine adjuvants and their applications". Vaccine. 37 (27): 3505–3519. doi:10.1016/j.vaccine.2019.04.092. PMID 31103364.
## External links[edit]
Classification
D
* ICD-10: B55.0
* ICD-9-CM: 085.0
* MeSH: D007898
* DiseasesDB: 7070
External resources
* eMedicine: emerg/296
* v
* t
* e
Parasitic disease caused by Excavata protozoa
Discicristata
Trypanosomatida
Trypanosomiasis
* T. brucei
* African trypanosomiasis
* T. cruzi
* Chagas disease
Leishmaniasis
* Leishmania major / L. mexicana / L. aethiopica / L. tropica
* Cutaneous leishmaniasis
* L. braziliensis
* Mucocutaneous leishmaniasis
* L. donovani / infantum
* Visceral leishmaniasis
Schizopyrenida
* Naegleria fowleri
* Primary amoebic meningoencephalitis
Trichozoa
Diplomonadida
* Giardia lamblia (Giardiasis)
Trichomonadida
* Trichomonas vaginalis
* Trichomoniasis
* Dientamoeba fragilis
* Dientamoebiasis
* v
* t
* e
Diseases of poverty
Diseases of poverty
* AIDS
* Malaria
* Tuberculosis
* Measles
* Pneumonia
* Diarrheal diseases
* Plague
Neglected diseases
* Cholera
* Chagas disease
* African sleeping sickness
* Schistosomiasis
* Dracunculiasis
* River blindness
* Leishmaniasis
* Trachoma
Miscellaneous
* Malnutrition
* Priority review voucher
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Visceral leishmaniasis
|
c0023290
| 28,163 |
wikipedia
|
https://en.wikipedia.org/wiki/Visceral_leishmaniasis
| 2021-01-18T18:52:49 |
{"mesh": ["D007898"], "umls": ["C0023290"], "icd-9": ["085.0"], "icd-10": ["B55.0"], "orphanet": ["507"], "wikidata": ["Q2046113"]}
|
Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Diffuse palmoplantar keratoderma with painful fissures
|
c2931122
| 28,164 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369999
| 2021-01-23T18:35:53 |
{"mesh": ["C536162"], "omim": ["148700"], "icd-10": ["Q82.8"]}
|
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
|
c4225170
| 28,165 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=495844
| 2021-01-23T19:05:11 |
{"omim": ["616881"], "icd-10": ["E75.2"], "synonyms": ["C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy", "Hypomyelinating leukodystrophy due to hikeshi deficiency"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Clostridial necrotizing enteritis" – news · newspapers · books · scholar · JSTOR (May 2008) (Learn how and when to remove this template message)
Clostridial necrotizing enteritis
Other namesEnteritis necroticans or Pigbel
SpecialtyInfectious disease, Gastroenterology
Clostridial necrotizing enteritis (CNE), is a potentially fatal type of food poisoning caused by a β-toxin of Clostridium perfringens,[1] Type C. It occurs in some developing countries, but was also documented in Germany following World War II, where it was called "Darmbrand" (meaning bowel necrosis). The toxin is normally inactivated by certain proteolytic enzymes and by normal cooking, but when these protections are impeded, and high protein is consumed, the disease emerges.
Sporadic and extremely rare cases occur in diabetics. In New Guinea, where inhabitants generally have low protein diets apart from at tribal feasts, a number of factors compound to result in pigbel.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Other clostridial toxemias
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
CNE is a necrotizing inflammation of the small bowel (especially the jejunum but also the ileum). Clinical results may vary from mild diarrhea to a life-threatening sequence of severe abdominal pain, vomiting (often bloody), bloody stool, ulceration of the small intestine with leakage (perforation) into the peritoneal cavity and possible death within a single day due to peritonitis. Many patients exhibit meteorism and a fever. Fluid can enter the peritoneum.
Sepsis can occur, with one case having 28,500 white blood cells per cubic milliliter.[3]
## Cause[edit]
All the factors collectively causing CNE are generally only present in the hinterlands of New Guinea and parts of Africa, Latin America, and Asia. These factors include protein deprivation (causing inadequate synthesis of the enzyme trypsin protease, to which the toxin is very sensitive), poor food hygiene, episodic meat feasting, staple diets containing trypsin inhibitors (sweet potatoes), and infection by Ascaris parasites which secrete a trypsin inhibitor. In New Guinea (origin of the term "pigbel"), the disease is usually spread through contaminated meat (especially pork) and perhaps by peanuts. (CNE was also diagnosed in post World War II Germany, where it was known as Darmbrand or "bowel fire").
## Diagnosis[edit]
An abdominal x-ray shows multiple dilated loops of small bowel and gas. The abdomen can be tender, distended, and soft. A differential diagnosis can be an intussusception.
## Treatment[edit]
Treatment involves suppressing the toxin-producing organisms with antibiotics such as penicillin G or metronidazole. About half of seriously ill patients require surgery for perforation, persistent intestinal obstruction, or failure to respond to the antibiotics. An investigational toxoid vaccine has been used successfully in some developing countries but is not available outside of research.
## Other clostridial toxemias[edit]
* Leukemia patients, cancer chemotherapy recipients and others suffering from suppressed white blood cells (neutropenia) can be afflicted by a similar syndrome, neutropenic enterocolitis, in which the cecum is targeted by Clostridium septicum in much the same way.
* In neonatal intensive-care units, the syndrome of neonatal necrotizing enterocolitis may be caused in a similar way by C. perfringens, C. butyricum, and C. difficile, but this has not been proved.
## See also[edit]
* Protein poisoning refers to a different diet-induced phenomenon.
## References[edit]
1. ^ "Clostridial Necrotizing Enteritis: Anaerobic Bacteria: Merck Manual Professional". Retrieved 2008-12-19.
2. ^ "Pigbel, Clostridial Enteritis Necrotans, Much Nastier than C diff Diarrhoea - Resus". Resus. 2014-09-04. Archived from the original on 2018-03-30. Retrieved 2018-03-30.
3. ^ "The Beast in the Belly | DiscoverMagazine.com". Discover Magazine. Retrieved 2018-04-12.
* Cooke RA (1979). "Pig Bel". Perspect Pediatr Pathol. 5: 137–52. PMID 575409.
* Murrell TG, Roth L, Egerton J, Samels J, Walker PD (January 1966). "Pig-bel: enteritis necroticans. A study in diagnosis and management". Lancet. 1 (7431): 217–22. doi:10.1016/s0140-6736(66)90048-1. PMID 4159182.
* Murrell TG, Egerton JR, Rampling A, Samels J, Walker PD (September 1966). "The ecology and epidemiology of the pig-bel syndrome in man in New Guinea". J Hyg (Lond). 64 (3): 375–96. doi:10.1017/S0022172400040663. PMC 2134745. PMID 4288244.
* Nuland, Sherwin B., “The Beast in the Belly”, Discover, Vol. 16 No. 02 (February 1995).
## External links[edit]
Classification
D
* ICD-10: A05.2
* ICD-9-CM: 005.2
* v
* t
* e
* Firmicutes (low-G+C) Infectious diseases
* Bacterial diseases: G+
Bacilli
Lactobacillales
(Cat-)
Streptococcus
α
optochin susceptible
* S. pneumoniae
* Pneumococcal infection
optochin resistant
* Viridans streptococci: S. mitis
* S. mutans
* S. oralis
* S. sanguinis
* S. sobrinus
* S. anginosus group
β
A
* bacitracin susceptible: S. pyogenes
* Group A streptococcal infection
* Streptococcal pharyngitis
* Scarlet fever
* Erysipelas
* Rheumatic fever
B
* bacitracin resistant, CAMP test+: S. agalactiae
* Group B streptococcal infection
ungrouped
* Streptococcus iniae
* Cutaneous Streptococcus iniae infection
γ
* D
* BEA+: Streptococcus bovis
Enterococcus
* BEA+: Enterococcus faecalis
* Urinary tract infection
* Enterococcus faecium
Bacillales
(Cat+)
Staphylococcus
Cg+
* S. aureus
* Staphylococcal scalded skin syndrome
* Toxic shock syndrome
* MRSA
Cg-
* novobiocin susceptible
* S. epidermidis
* novobiocin resistant
* S. saprophyticus
Bacillus
* Bacillus anthracis
* Anthrax
* Bacillus cereus
* Food poisoning
Listeria
* Listeria monocytogenes
* Listeriosis
Clostridia
Clostridium (spore-forming)
motile:
* Clostridium difficile
* Pseudomembranous colitis
* Clostridium botulinum
* Botulism
* Clostridium tetani
* Tetanus
nonmotile:
* Clostridium perfringens
* Gas gangrene
* Clostridial necrotizing enteritis
Finegoldia (non-spore forming)
* Finegoldia magna
Mollicutes
Mycoplasmataceae
* Ureaplasma urealyticum
* Ureaplasma infection
* Mycoplasma genitalium
* Mycoplasma pneumoniae
* Mycoplasma pneumonia
Anaeroplasmatales
* Erysipelothrix rhusiopathiae
* Erysipeloid
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Clostridial necrotizing enteritis
|
c0014336
| 28,166 |
wikipedia
|
https://en.wikipedia.org/wiki/Clostridial_necrotizing_enteritis
| 2021-01-18T18:58:46 |
{"umls": ["C0014336"], "icd-9": ["005.2"], "icd-10": ["A05.2"], "wikidata": ["Q2373700"]}
|
This article is about the medical condition. For the fly genus, see Dolichocolon (fly).
Dolichocolon
SpecialtyGeneral surgery
Dolichocolon is an abnormally long large intestine.[1] It should not be confused with an abnormally wide large intestine, which is called a megacolon.
Dolichocolon may predispose to abnormal rotation (see volvulus) and interposition between the diaphragm and the liver (see Chilaiditi syndrome). It is more commonly seen in the elderly, some psychiatric patients or in institutionalised individuals. It is not, however, a part of normal aging. The exact cause remains unknown.Dolichocolon is often an incidental finding on abdominal X-rays or colonoscopy. It is not by itself a disease and as such requires no treatment. The term is from ancient Greek dolichos, the long distance in running, and colon.[citation needed]
## References[edit]
1. ^ Dolichocolon \- definition from CancerWeb at Newcastle University.
## External links[edit]
Classification
D
* ICD-10: Q43.8
* ICD-9-CM: 751.5
* v
* t
* e
Congenital malformations and deformations of digestive system
Upper GI tract
Tongue, mouth and pharynx
* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia
Esophagus
* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)
Stomach
* Pyloric stenosis
* Hiatus hernia
Lower GI tract
Intestines
* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst
Rectum/anal canal
* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia
Accessory
Pancreas
* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum
Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Dolichocolon
|
c0266198
| 28,167 |
wikipedia
|
https://en.wikipedia.org/wiki/Dolichocolon
| 2021-01-18T19:07:56 |
{"umls": ["C0266198"], "icd-9": ["751.5"], "icd-10": ["Q43.8"], "wikidata": ["Q1235558"]}
|
Substance-related disorder
Other namesSubstance abuse, drug abuse
SpecialtyPsychiatry, clinical psychology
Substance-related disorders, including both substance dependence and substance abuse, can lead to large societal problems. It is found to be greatest in individuals ages 18–25, with a higher likelihood occurring in men compared to women, and urban residents compared to rural residents. On average, general medical facilities hold 20% of patients with substance-related disorders, possibly leading to psychiatric disorders later on. Over 50% of individuals with substance-related disorders will often have a "dual diagnosis," where they are diagnosed with the substance abuse, as well as a psychiatric diagnosis, the most common being major depression, personality disorder, anxiety disorders, and dysthymia.[1]
Substance abuse, also known as drug abuse, is a patterned use of a substance (drug) in which the user consumes the substance in amounts or with methods which are harmful to themselves or others. The drugs used are often associated with levels of intoxication that alter judgment, perception, attention and physical control, not related with medical effects. It is often thought that the main abused substances are illegal drugs and alcohol; however it is becoming more common that prescription drugs and tobacco are a prevalent problem.[2]
## Contents
* 1 Signs and symptoms
* 2 Classification and terminology
* 2.1 Substance-induced disorders
* 2.2 Substance use disorders
* 2.3 Changes in Classification
* 2.4 Complications
* 3 See also
* 4 References
* 5 External links
## Signs and symptoms[edit]
Common symptoms include:
* Sudden changes in behaviour – may engage in secretive or suspicious behaviour
* Mood changes – anger towards others, paranoia and little care shown about themselves or their future
* Problems with work or school – lack of attendance
* Changes in eating and sleeping habits
* Changes in friendship groups and poor family relationships
* A sudden unexplained change in financial needs – leading to borrowing/stealing money
There are many more symptoms such as physical and psychological changes, though this is often dependent on which drug is being abused. It is, however, common that abusers will experience unpleasant withdrawal symptoms if the drug is taken away from them.[3][4]
It is also reported that others have strong cravings even after they have not used the drug for a long period of time. This is called being "clean". To determine how the brain triggers these cravings, multiple tests have been done on mice.[5] It is also now thought that these cravings can be explained by substance-related disorders as a subcategory of personality disorders as classified by the DSM-5.[6]
## Classification and terminology[edit]
Substance-related disorders were originally subcategorized into "substance use disorders" (SUD) and "substance-induced disorders" (SID).[7][8] Though DSM-IV makes a firm distinction between the two, SIDs often occur in the context of SUDs.[9]
### Substance-induced disorders[edit]
Substance-induced disorders include medical conditions that can be directly attributed to the use of a substance.[10] These conditions include intoxication, withdrawal, substance-induced delirium, substance-induced psychosis, and substance-induced mood disorders.[11]
### Substance use disorders[edit]
Main article: Substance use disorder
Substance use disorders include substance abuse and substance dependence.[12] In DSM-IV, the conditions are formally diagnosed as one or the other, but it has been proposed that DSM-V combine the two into a single condition called "Substance-use disorder".[13]
### Changes in Classification[edit]
The more recently published DSM-5 combined substance abuse and substance dependence into a single continuum; this is simply known as substance use disorder and requires more presenting symptoms before a diagnosis is made. It also considers each different substance as its own separate disorder, based upon the same basic criteria. It also distinguishes the difference between dependence and addictions as two separate disorders, not to be confused.[14]
### Complications[edit]
There are many potential complications that can arise due to substance abuse such as severe physiological damage, psychological changes and social changes that are often not desirable.
Physiological damage is often the most obvious, observed as an abnormal condition affecting the body of an organism: For instance, there are several known alcohol-induced diseases (e.g. alcoholic hepatitis, alcoholic liver disease, alcoholic cardiomyopathy.) Substance abuse is also often associated with premature ageing, fertility complications, brain damage and a higher risk of infectious diseases due to a weakened immune system.[15][16]
Long term abuse has been linked to personality changes such as depression, paranoia, anxiety which can be related to psychological disorders. It is often reported that substance abuse coincides with personality disorders, such as borderline personality disorder. It has also now been linked to severe brain damage leading to an inability to control behaviours, which could explain why many people who abuse substances go on to develop addictions.[17][18][19]
Substance abuse is often regarded as negative in society and therefore those who engage in such behaviours can often be subject to social discrimination. The use of many drugs can lead to criminal convictions, whether the drug itself is illegal or abusers use unlawful methods to fund their substances. It is also more likely that someone will partake in criminal or anti-social behaviour when they are under the influence of a drug.[20]
## See also[edit]
* Anxiety
* Behavioural sciences
* Chemical dependency
* Major depressive disorder
* Psychological trauma
* Self-medication
* Shared care
* Substance abuse prevention
* Drug rehabilitation
* Dual diagnosis
## References[edit]
1. ^ Leikin, J.B. (2007). "Substance-Related Disorders in Adults". Disease-a-month. 53 (6): 313–335. doi:10.1016/j.disamonth.2007.04.001.
2. ^ "Substance Abuse and Addiction Health Center". 2014-04-22.
3. ^ "Drug Abuse and Dependence Symptoms". Retrieved April 17, 2015.
4. ^ "Drug Abuse and Addiction". Retrieved April 17, 2015.
5. ^ Aldhous, Peter (2008-04-09). "'Drug binge' mice reveal why cravings linger". Newscientist. Retrieved 2011-10-08.
6. ^ American Psychiatric Publishing (2013). "Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.)". Cite journal requires `|journal=` (help)
7. ^ "substance-related disorders" at Dorland's Medical Dictionary
8. ^ Marc Galanter; Herbert D. Kleber (2008). The American Psychiatric Publishing textbook of substance abuse treatment. American Psychiatric Pub. p. 59. ISBN 978-1-58562-276-4. Retrieved 23 April 2010.
9. ^ Michael B. First; Allen Frances; Harold Alan Pincus (2004). DSM-IV-TR guidebook. American Psychiatric Pub. pp. 123–. ISBN 978-1-58562-068-5. Retrieved 23 April 2010.
10. ^ "Substance-induced disorders" at Dorland's Medical Dictionary
11. ^ Roderick Shaner (1 April 2000). Psychiatry. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-683-30766-5. Retrieved 23 April 2010.
12. ^ "Substance use disorders" at Dorland's Medical Dictionary
13. ^ "Proposed Revision | APA DSM-5". Retrieved 2010-04-23.
14. ^ American Psychiatric Publishing (2013). "Diagnostic and Statistical Manual of Mental Disorders (Fifth ed. )" (PDF). Cite journal requires `|journal=` (help)
15. ^ Baignet, Michael. "Physical complications of substance abuse: what psychiatrists need to know". Current Opinion in Psychiatry. Retrieved April 17, 2015.
16. ^ "Drug Addictions: complications". Retrieved April 17, 2015.
17. ^ "Drug Abuse and Dependence Symptoms". Retrieved April 17, 2015.
18. ^ Trull; Sher; Minks Brown; Durbin; Burr (2000). "Borderline personality disorder and substance use disorder: A review and integration". Clinical Psychology Review. 20 (2): 235–253. doi:10.1016/s0272-7358(99)00028-8.
19. ^ Jentsch, J. D.; Taylor, J. R. (1999). "impulsivity resulting from frontostriatal dysfunction in drug abuse: implications for the control of behaviour by reward related stimuli". psychopharmacology. 146 (4): 373–390. doi:10.1007/pl00005483.
20. ^ "Drug Abuse and Dependence Symptoms". 2014-12-03.
## External links[edit]
Classification
D
* ICD-10: F10-F19
* ICD-9-CM: 291-292; 303–305
* MeSH: D019966
Wikimedia Commons has media related to Substance-related disorders.
* Substance-related disorder at Curlie
* National Institute on Drug Abuse: "NIDA for Teens: Brain and Addiction".
* v
* t
* e
Abuse
Types
* Anti-social behaviour
* Bullying
* Child abuse
* neglect
* sexual
* military
* marriage
* Cruelty to animals
* Disability abuse
* Domestic abuse
* Elder abuse
* Financial
* Marriage
* Gaslighting
* Harassment
* Humiliation
* Incivility
* Institutional abuse
* Intimidation
* Neglect
* Persecution
* Professional abuse
* Proxy abuse
* Psychological abuse
* Physical abuse
* Police brutality
* Religious abuse
* Sexual abuse
* Stalking
* Structural abuse
* Verbal abuse
* more...
Related topics
* Abuse of power
* Abusive power and control
* Child grooming
* Complex post-traumatic stress disorder
* Dehumanization
* Denial
* Destabilisation
* Exaggeration
* Isolation
* Just-world hypothesis
* Lying
* Manipulation
* Minimisation
* Narcissism
* Psychological projection
* Psychological trauma
* Psychopathy
* Rationalization
* Traumatic bonding
* Victim blaming
* Victim playing
* Victimisation
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
* v
* t
* e
Psychoactive substance-related disorder
General
* SID
* Substance intoxication / Drug overdose
* Substance-induced psychosis
* Withdrawal:
* Craving
* Neonatal withdrawal
* Post-acute-withdrawal syndrome (PAWS)
* SUD
* Substance abuse / Substance-related disorders
* Physical dependence / Psychological dependence / Substance dependence
Combined
substance use
* SUD
* Polysubstance dependence
* SID
* Combined drug intoxication (CDI)
Alcohol
SID
Cardiovascular diseases
* Alcoholic cardiomyopathy
* Alcohol flush reaction (AFR)
Gastrointestinal diseases
* Alcoholic liver disease (ALD):
* Alcoholic hepatitis
* Auto-brewery syndrome (ABS)
Endocrine diseases
* Alcoholic ketoacidosis (AKA)
Nervous
system diseases
* Alcohol-related dementia (ARD)
* Alcohol intoxication
* Hangover
Neurological
disorders
* Alcoholic hallucinosis
* Alcoholic polyneuropathy
* Alcohol-related brain damage
* Alcohol withdrawal syndrome (AWS):
* Alcoholic hallucinosis
* Delirium tremens (DTs)
* Fetal alcohol spectrum disorder (FASD)
* Fetal alcohol syndrome (FAS)
* Korsakoff syndrome
* Positional alcohol nystagmus (PAN)
* Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis)
* Wernicke encephalopathy (WE)
Respiratory tract diseases
* Alcohol-induced respiratory reactions
* Alcoholic lung disease
SUD
* Alcoholism (alcohol use disorder (AUD))
* Binge drinking
Caffeine
* SID
* Caffeine-induced anxiety disorder
* Caffeine-induced sleep disorder
* Caffeinism
* SUD
* Caffeine dependence
Cannabis
* SID
* Cannabis arteritis
* Cannabinoid hyperemesis syndrome (CHS)
* SUD
* Amotivational syndrome
* Cannabis use disorder (CUD)
* Synthetic cannabinoid use disorder
Cocaine
* SID
* Cocaine intoxication
* Prenatal cocaine exposure (PCE)
* SUD
* Cocaine dependence
Hallucinogen
* SID
* Acute intoxication from hallucinogens (bad trip)
* Hallucinogen persisting perception disorder (HPPD)
Nicotine
* SID
* Nicotine poisoning
* Nicotine withdrawal
* SUD
* Nicotine dependence
Opioids
* SID
* Opioid overdose
* SUD
* Opioid use disorder (OUD)
Sedative /
hypnotic
* SID
* Kindling (sedative–hypnotic withdrawal)
* benzodiazepine: SID
* Benzodiazepine overdose
* Benzodiazepine withdrawal
* SUD
* Benzodiazepine use disorder (BUD)
* Benzodiazepine dependence
* barbiturate: SID
* Barbiturate overdose
* SUD
* Barbiturate dependence
Stimulants
* SID
* Stimulant psychosis
* amphetamine: SUD
* Amphetamine dependence
Volatile
solvent
* SID
* Sudden sniffing death syndrome (SSDS)
* Toluene toxicity
* SUD
* Inhalant abuse
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Substance-related disorder
|
c0013146
| 28,168 |
wikipedia
|
https://en.wikipedia.org/wiki/Substance-related_disorder
| 2021-01-18T19:00:39 |
{"mesh": ["D019966"], "icd-9": ["303", "305", "304", "291", "292"], "icd-10": ["F18", "F12", "F11", "F14", "F17", "F16", "F15", "F13", "F10", "F19"], "wikidata": ["Q4134457"]}
|
## Clinical Features
Bradykinin (BK) is a nonapeptide hormone (RPPGFSPFR) that is an important mediator of the physiologic response to injury and trauma. The local release of BK causes pain, plasma extravasation, and vasodilation, as well as smooth muscle contraction. BK may play a role in the pathogenesis of asthma, since it appears to be a mediator of hyperallergenic bronchoconstriction in asthmatic patients. Kininogen (612358), in both of its isoforms in plasma, contains a bradykinin moiety.
Hyperbradykininism is a familial disorder characterized by orthostatic light-headedness or syncope, facial erythema, excessive orthostatic fall in pulse pressure and rise in pulse rate, ecchymoses, and purple discoloration of the legs after standing (Streeten et al., 1972). Plasma concentrations of bradykinin were elevated. Impaired destruction of circulating bradykinin was suggested, because of low concentrations of bradykininase-I. Clinical improvement occurred with administration of propranolol, fluorocortisone or cyproheptadine ('Periactin'). Three families were described: a woman and her daughter; a 23-year-old female student, her 50-year-old father and 16-year-old brother; and another woman and her daughter.
In a study of 3 of the families originally reported by Streeten et al. (1972), DeStefano et al. (1998) classified individuals as affected if a drop of standing blood pressure of more than 18 mm Hg and rise in heart rate were observed. A high-level athlete who experienced no symptoms was classified as affected on the basis of these criteria; her good physical condition probably enabled her to compensate for her blood pressure changes. A single nonpenetrant individual, with an affected parent and offspring, was observed. DeStefano et al. (1998) reported that in the quarter century after the initial report by Streeten et al. (1972) measurements of plasma bradykinin from these patients had given apparently conflicting results, which is consistent with the fact that plasma bradykininase concentration can be variable.
Orthostatic hypotension as observed in the families reported by Streeten et al. (1972) is a notorious feature of diabetic neuropathy with involvement of the autonomic nervous system. It occurs also in amyloid polyneuropathy due to mutations in the TTR gene (176300), in the neuropathy of Fabry disease (301500), in deficiency of dopamine beta-hydroxylase (223360), and as a striking feature of familial dysautonomia (DYS; 223900). Shy-Drager syndrome (146500) is a disorder of progressive autonomic failure with orthostatic hypotension as a leading feature. The syndrome is probably genetically heterogeneous.
Mapping
In 3 of the families originally reported by Streeten et al. (1972), DeStefano et al. (1998) conducted linkage analyses with DNA markers, which identified a locus for the disorder on chromosome 18q. A maximum multipoint lod score of 3.21 in the 3 families was observed at D18S1367, although the smallest family had negative lod scores in the entire region. There was significant evidence of linkage in the presence of heterogeneity at 18q, with a maximum lod score of 3.92 at D18S1367 in the 2 linked families. DeStefano et al. (1998) suggested that identification of the gene responsible for the orthostatic hypotensive disorder in these families may advance understanding of the general regulatory pathways involved in the continuum, from hypotension to hypertension, of blood pressure.
### Exclusion Studies
DeStefano et al. (1998) could find no evidence of linkage of orthostatic hypotension to regions containing hyperbradykininism candidate genes such as bradykinin receptors B1 (600337) and B2 (113503) (14q32.1-q32.2) and kallikrein (KLK1; 147910) (19q13.2-q13.4).
Molecular Genetics
Ranade et al. (2001) investigated whether nucleotide variation in the human renal urea transporter-2 (UT2; 601611) could be associated with variation in blood pressure. Seven single-nucleotide polymorphisms (SNPs) were identified, including val227 to ile and ala357 to thr. Over 1,000 hypertensive and low-normotensive individuals of Chinese origin were genotyped. The ile227 and ala357 alleles were associated with low diastolic blood pressure in men but not women, with odds ratios 2.1 (95% confidence interval 1.5-2.7, P less than 0.001) and 1.5 (95% confidence interval 1.2-1.8, P less than 0.001), respectively. There was a similar trend for systolic blood pressure, and odds ratios for the ile227 and ala357 alleles were 1.7 (95% confidence interval 1.2-2.3, P = 0.002) and 1.3 (95% confidence interval 1.1-1.6, P = 0.007), respectively, in men. The authors suggested that polymorphisms in UT2 may influence blood pressure, at least in men, and UT2 may be a candidate gene for OHDS.
Cardiac \- Orthostatic hypotension Inheritance \- Autosomal dominant Neuro \- Syncope Lab \- Hyperbradykininism Skin \- Facial erythema \- Ecchymoses, and purple leg discoloration after standing ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
|
c1840438
| 28,169 |
omim
|
https://www.omim.org/entry/143850
| 2019-09-22T16:40:04 |
{"mesh": ["C564174"], "omim": ["143850"], "synonyms": ["Alternative titles", "OHDS", "ORTHOSTATIC HYPOTENSIVE DISORDER", "HYPERBRADYKININISM"]}
|
Small pocket of fluid within the upper layers of the skin
For other uses, see Blister (disambiguation).
"Vesiculation" redirects here. For vesiculation in geology, see Vesicular texture.
Blister
Blister on foot caused by friction.
SpecialtyDermatology
CausesHeat, cold, electricity, chemicals, friction, radiation
A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled with a clear fluid, either serum or plasma.[1] However, blisters can be filled with blood (known as "blood blisters") or with pus (for instance, if they become infected).
The word "blister" entered English in the 14th century. It came from the Middle Dutch "bluyster" and was a modification of the Old French "blostre", which meant a leprous nodule—a rise in the skin due to leprosy. In dermatology today, the words vesicle and bulla refer to blisters of smaller or greater size, respectively.
To heal properly, a blister should not be popped unless medically necessary. If popped, the excess skin should not be removed because the skin underneath needs the top layer to heal properly.[2]
## Contents
* 1 Causes
* 1.1 Friction or rubbing
* 1.2 Extreme temperature
* 1.3 Chemical exposure
* 1.4 Crushing/pinching
* 1.5 Medical conditions
* 2 Pathophysiology
* 2.1 Friction blisters
* 3 Prevention
* 3.1 Friction blisters
* 3.2 Other
* 4 References
* 5 External links
## Causes[edit]
A blister may form when the skin has been damaged by friction or rubbing, heat, cold or chemical exposure. Fluid collects between the upper layers of skin (the epidermis) and the layers below (the dermis). This fluid cushions the tissue underneath, protecting it from further damage and allowing it to heal.
### Friction or rubbing[edit]
Various sized blisters on the sole of a foot due to friction
Intense rubbing can cause a blister, as can any friction on the skin if continued long enough. This kind of blister is most common after walking long distances or by wearing old or poorly fitting shoes.[3][4][5] Blisters are most common on the hands and feet, as these extremities are susceptible while walking, running, or performing repetitive motions, such as joystick manipulation whilst playing certain video games, digging with a shovel, playing guitar or bass, etc. Blisters form more easily on damp skin than on dry or soaked skin,[6] and are more common in warm conditions. Less-aggressive rubbing over long periods of time may cause calluses to form rather than a blister. Both blisters and calluses can lead to more serious complications, such as foot ulceration and infection, particularly when sensation or circulation is impaired, as in the case of diabetes, neuropathy or peripheral artery disease (PAD).
### Extreme temperature[edit]
A blister caused by burning.
This type of blistering is one of the tools used to determine the degree of burns sustained. First and second degree burns may result in blistered skin; however, it is characteristic of second degree burns to blister immediately, whereas first degree burns can have blisters after a couple of days. Blisters can also form on the hands and feet as a result of tissue damage incurred by frostbite.[7]
### Chemical exposure[edit]
Blisters caused by exposure to sulfur mustard agent.
Sometimes, the skin will blister when it comes into contact with a cosmetic, detergent, solvent, or other chemical such as nickel sulfate, Balsam of Peru,[8] or urushiol (poison ivy, poison oak, poison sumac).[9] This is known as contact dermatitis. Blisters can also develop as a result of an allergic reaction to an insect bite or sting. Some chemical warfare agents, known as blister agents or vesicants, cause large, painful blisters wherever they contact skin; an example is mustard gas.
### Crushing/pinching[edit]
A blood blister usually forms when a minute blood vessel close to the surface of the skin ruptures (breaks), and blood leaks into a tear between the layers of skin. This can happen if the skin is crushed, pinched or aggressively squeezed.
### Medical conditions[edit]
There are also a number of medical conditions that cause blisters. The most common are chickenpox, herpes, impetigo, and a form of eczema called dyshidrosis. Other, much rarer conditions that cause blisters include:
* Bullous pemphigoid: a skin disease that causes large, tightly filled blisters to develop, usually affecting people over the age of 60.
* Pemphigus: a serious skin disease in which blisters develop if pressure is applied to the skin; the blisters burst easily, leaving raw areas that can become infected.
* Dermatitis herpetiformis: a skin disease that causes intensely itchy blisters, usually on the elbows, knees, back and buttocks. The blisters usually develop in patches of the same shape and size on both sides of the body.
* Chronic bullous dermatosis: a disease that causes clusters of blisters on the face, mouth or genitals.
* Cutaneous radiation syndrome
* Epidermolysis bullosa[10]
## Pathophysiology[edit]
### Friction blisters[edit]
Friction blisters are caused by excess shear stress between the bottom and surface of the skin and the body. The strata of skin around the stratum spinosum are most susceptible to shear. As the stratum spinosum tears away from the connecting tissues below, plasma from the cells diffuses out. This plasma solution helps new cells divide and grow into new connective tissues and epidermal layers.
The clear fluid will be reabsorbed as new cells develop and the swollen appearance will subside. Painful blisters located on hands (palmar surface) and feet (plantar surface) are due to tissue shearing deeper in the epidermis, near nerve endings. Lower tissues are more susceptible to infection.
## Prevention[edit]
### Friction blisters[edit]
Friction blisters, caused by rubbing against the skin, can be prevented by reducing the friction to a level where blisters will not form.[3][4][5][11] This can be accomplished in a variety of ways.
Blisters on the feet can be prevented by wearing comfortable, well-fitting shoes and clean socks. Inherently ill-fitting or stiffer shoes, such as high heels and dress shoes, present a larger risk of blistering. Blisters are more likely to develop on skin that is moist, so socks that manage moisture or frequent sock changes will aid those with particularly sweaty feet. While exercising or playing sports, special sports socks can help keep feet drier and reduce the chance of blisters.[12] Before going for a long walk, it is also important to ensure that shoes or hiking boots have been properly broken in.
Even before a "hot" or irritated area on the foot is felt, taping a protective layer of padding or a friction-reducing interface between the affected area and the footwear can prevent the formation of a blister.[13] Bandages, moleskin and tapes generally must be applied to the foot daily, and most have a very high coefficient of friction (COF), but a friction-management patch applied to the shoe will remain in place much longer, throughout many changes of socks and insoles. This type of intervention may be used with footwear that is worn daily, with specialty shoes and boots like hockey skates, ice skates, inline skates, ski boots and cleats, or even with orthotic braces and splints. For periods of sustained use such as hiking and trail running, especially where water ingress or moisture build up in the shoe or boot can occur, moisture wicking liner socks can provide the required friction protection.
To avoid friction blisters on the hands, gloves should be worn when using tools such as a shovel or pickaxe, doing manual work such as gardening, or using sports equipment like golf clubs or baseball bats. Oars used for competitive rowing are known for causing frequent blisters on the hands of oarsmen. Weightlifters are also prone to blisters as are gymnasts from the friction developed by the rubbing against the bars. To further reduce the occurrence one can tape the hands, and there are also a number of products on the market that claim to reduce the occurrence of blisters. These are all intended to be worn as a liner underneath a glove. The majority of these offerings simply add padding and create a layer that reduces the coefficient of friction between the skin and the glove.
A lubricant, typically talcum powder, can be used to reduce friction between skin and apparel in the short term. People put talcum powder inside gloves or shoes for this purpose, although this type of lubricant can actually increase the friction in the long term as it absorbs moisture. Increased friction makes blisters more likely.
### Other[edit]
Sunscreen and protective clothing should also be used during the hottest part of the day to avoid blisters from sunburn. Avoiding sunlight during midday is the best way to avoid blisters from sunburn. Protective gloves should be worn when handling detergents, cleaning products, solvents and other chemicals.
## References[edit]
1. ^ Uchinuma, E; Koganei, Y; Shioya, N; Yoshizato, K (1988). "Biological evaluation of burn blister fluid". Annals of Plastic Surgery. 20 (3): 225–30. doi:10.1097/00000637-198803000-00005. PMID 3358612.
2. ^ "Blister Treatments and Prevention". WebMD. Retrieved 2017-03-04.
3. ^ a b [Naylor PFD. "The Skin Surface and Friction," British Journal of Dermatology. 1955;67:239–248.]
4. ^ a b [Naylor PFD. "Experimental Friction Blisters," British Journal of Dermatology. 1955;67:327–342.]
5. ^ a b [Sulzberger MB, Cortese TA, Fishman L, Wiley HS. "Studies on Blisters Produced by Friction," Journal of Investigative Dermatology. 1966;47:456–465.]
6. ^ [Carlson JM. "The Friction Factor," OrthoKinetic Review. Nov/Dec 2001;1(7):1–3.]
7. ^ "First Degree Burns". Uuhsc.utah.edu. Archived from the original on 2012-02-18. Retrieved 2012-02-21.
8. ^ "Conn's Current Therapy 2011". google.com.
9. ^ Commissioner, Office of the. "Consumer Updates - Outsmarting Poison Ivy and Other Poisonous Plants". www.fda.gov.
10. ^ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 1–27. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X.
11. ^ [Hanna T, Carlson JM. "Freedom from Friction," OrthoKinetic Review. Mar/Apr 2004;4(2):34–35.]
12. ^ "Treatment Skin Blisters – Blister On Bottom Of Foot – Blister On Foot". Goengo.com. Archived from the original on 2012-03-12. Retrieved 2012-02-21.
13. ^ "Adventure Medical Kit Blister Medic Gel - BackpackGearTest.org". backpackgeartest.org.
## External links[edit]
Classification
D
* ICD-10: T14.0
* ICD-9-CM: 919.2
* MeSH: D001768
* DiseasesDB: 1777
* SNOMED CT: 339008
External resources
* MedlinePlus: 003239
* Patient UK: Blister
* Media related to blisters at Wikimedia Commons
* The dictionary definition of blister at Wiktionary
* v
* t
* e
General wounds and injuries
Abrasions
* Abrasion
* Avulsion
Blisters
* Blood blister
* Coma blister
* Delayed blister
* Edema blister
* Fracture blister
* Friction blister
* Sucking blister
Bruises
* Hematoma/Ecchymosis
* Battle's sign
* Raccoon eyes
* Black eye
* Subungual hematoma
* Cullen's sign
* Grey Turner's sign
* Retroperitoneal hemorrhage
Animal bites
* Insect bite
* Spider bite
* Snakebite
Other:
* Ballistic trauma
* Stab wound
* Blunt trauma/superficial/closed
* Penetrating trauma/open
* Aerosol burn
* Burn/Corrosion/Chemical burn
* Frostbite
* Occupational injuries
* Traumatic amputation
By region
* Hand injury
* Head injury
* Chest trauma
* Abdominal trauma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Blister
|
c0005758
| 28,170 |
wikipedia
|
https://en.wikipedia.org/wiki/Blister
| 2021-01-18T18:47:14 |
{"mesh": ["D001768"], "icd-9": ["919.2"], "icd-10": ["T14.0"], "wikidata": ["Q276469"]}
|
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
## Epidemiology
Ten cases from seven families have been reported in the literature.
## Clinical description
The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities.
## Genetic counseling
The condition is transmitted as an autosomal recessive trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Van den Ende-Gupta syndrome
|
c1833136
| 28,171 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2460
| 2021-01-23T18:08:06 |
{"gard": ["3382"], "mesh": ["C535909"], "omim": ["600920"], "umls": ["C1833136"], "icd-10": ["Q87.0"], "synonyms": ["Marden-Walker-like syndrome", "VDEGS"]}
|
Dopamine dysregulation syndrome
Two-dimensional skeletal formula of the dopamine molecule. Dopamine receptor agonists mediate the development of DDS.
Dopamine dysregulation syndrome (DDS) is a dysfunction of the reward system observed in some individuals taking dopaminergic medications for an extended length of time. It typically occurs in people with Parkinson's disease (PD) who have taken dopamine agonist medications for an extended period of time. It is characterized by self-control problems such as addiction to medication, gambling, or sexual behavior.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Management
* 6 Epidemiology
* 7 History
* 8 Notes
## Signs and symptoms[edit]
Punding, a possible symptom of DDS, is the repetition of complex motor behaviors such as collecting or arranging objects.
A slot machine, commonly used for gambling.
The most common symptom is craving for dopaminergic medication. However other behavioral symptoms can appear independently of craving or co-occur with it.[2] Craving is an intense impulse of the subject to obtain medication even in the absence of symptoms that indicate its intake.[2] To fulfill this need the person will self-administer extra doses. When self-administration is not possible, aggressive outbursts or the use of strategies such as symptom simulation or bribery to access additional medication can also appear.[2]
Hypomania, manifesting with feelings of euphoria, omnipotence, or grandiosity, are prone to appear in those moments when medication effects are maximum; dysphoria, characterized by sadness, psychomotor slowing, fatigue or apathy are typical with dopamine replacement therapy (DRT) withdrawal.[2] Different impulse control disorders have been described including gambling, compulsive shopping, eating disorders and hypersexuality.[2] Behavioral disturbances, most commonly aggressive tendencies, are the norm. Psychosis is also common.[2]
## Causes[edit]
Parkinson's disease is a common neurological disorder characterized by a degeneration of dopamine neurons in the substantia nigra and a loss of dopamine in the putamen. It is described as a motor disease, but it also produces cognitive and behavioral symptoms. The most common treatment is dopamine replacement therapy, which consists in the administration of levodopa (L-Dopa) or dopamine agonists (such as pramipexole or ropinirole) to patients. Dopamine replacement therapy is well known to improve motor symptoms but its effects in cognitive and behavioral symptoms are more complex.[3] Dopamine has been related to the normal learning of stimuli with behavioral and motivational significance, attention, and most importantly the reward system.[4] In accordance with the role of dopamine in reward processing, addictive drugs stimulate dopamine release.[4] Although the exact mechanism has yet to be elucidated, the role of dopamine in the reward system and addiction has been proposed as the origin of DDS.[4] Models of addiction have been used to explain how dopamine replacement therapy produces DDS.[2] One of these models of addiction proposes that over the usage course of a drug there is a habituation to the rewarding that it produces at the initial stages. This habituation is thought to be dopamine mediated. With long-term administration of L-dopa the reward system gets used to it and needs higher quantities. As the user increases drug intake there is a loss of dopaminergic receptors in the striatum which acts in addition to an impairment in goal-direction mental functions to produce an enhancement of sensitization to dopamine therapy. The behavioral and mood symptoms of the syndrome are produced by the dopamine overdose.[4]
## Diagnosis[edit]
Diagnosis of the syndrome is clinical since there are no laboratory tests to confirm it. For diagnosis a person with documented responsiveness to medication has to increase medication intake beyond dosage needed to relieve their parkinsonian symptoms in a pathological addiction-like pattern. A current mood disorder (depression, anxiety, hypomanic state or euphoria), behavioral disorder (excessive gambling, shopping or sexual tendency, aggression, or social isolation) or an altered perception about the effect of medication also have to be present.[5] A questionnaire on the typical symptoms of DDS has also been developed and can help in the diagnosis process.[6]
## Prevention[edit]
The main prevention measure proposed is the prescription of the lowest possible dose of dopamine replacement therapy to individuals at risk.[4] The minimization of the use of dopamine agonists, and of short duration formulations of L-Dopa can also decrease risk of the syndrome.[4]
## Management[edit]
First choice management measure consists in the enforcement of a dopaminergic drug dosage reduction. If this decrease is maintained, dysregulation syndrome features soon decrease.[4] Cessation of dopamine agonists therapy may also be of use.[7] Some behavioral characteristics may respond to psychotherapy; and social support is important to control risk factors. In some cases antipsychotic drugs may also be of use in the presence of psychosis, aggression, gambling or hypersexuality.[4]
Based upon five case reports,[8][9] valproic acid may have efficacy in controlling the symptoms of levodopa-induced DDS that arise from the use of levodopa for the treatment of Parkinson's disease.[10][11][12]
## Epidemiology[edit]
DDS is not common among PD patients. Prevalence may be around 4%.[1][5] Its prevalence is higher among males with an early onset of the disease.[2] Previous substance abuse such as heavy drinking or drug intake seems to be the main risk factor along with a history of affective disorder.[2]
## History[edit]
PD was first formally described in 1817;[13] however, L-dopa did not enter clinical practice until almost 1970.[14][15] In these initial works there were already reports of neuropsychiatric complications.[15] During the following decades cases featuring DDS symptoms in relation to dopamine therapy such as hypersexuality, gambling or punding, appeared.[16][17][18] DDS was first described as a syndrome in the year 2000.[19] Three years later the first review articles on the syndrome were written, showing an increasing awareness of the DDS importance.[1][4][2] Diagnostic criteria were proposed in 2005.[5]
## Notes[edit]
1. ^ a b c Merims D, Giladi N (2008). "Dopamine dysregulation syndrome, addiction and behavioral changes in Parkinson's disease". Parkinsonism Relat. Disord. 14 (4): 273–80. doi:10.1016/j.parkreldis.2007.09.007. PMID 17988927.
2. ^ a b c d e f g h i j Lawrence AD, Evans AH, Lees AJ (October 2003). "Compulsive use of dopamine replacement therapy in Parkinson's disease: reward systems gone awry?". Lancet Neurol. 2 (10): 595–604. doi:10.1016/S1474-4422(03)00529-5. PMID 14505581.
3. ^ Cools R (2006). "Dopaminergic modulation of cognitive function-implications for L-DOPA treatment in Parkinson's disease". Neurosci Biobehav Rev. 30 (1): 1–23. doi:10.1016/j.neubiorev.2005.03.024. PMID 15935475.
4. ^ a b c d e f g h i Evans AH, Lees AJ (August 2004). "Dopamine dysregulation syndrome in Parkinson's disease". Curr. Opin. Neurol. 17 (4): 393–8. doi:10.1097/01.wco.0000137528.23126.41. PMID 15247533.
5. ^ a b c Pezzella FR, Colosimo C, Vanacore N, et al. (January 2005). "Prevalence and clinical features of hedonistic homeostatic dysregulation in Parkinson's disease". Mov. Disord. 20 (1): 77–81. doi:10.1002/mds.20288. PMID 15390130.
6. ^ Pezzella FR, Di Rezze S, Chianese M, et al. (October 2003). "Hedonistic homeostatic dysregulation in Parkinson's disease: a short screening questionnaire". Neurol. Sci. 24 (3): 205–6. doi:10.1007/s10072-003-0132-0. PMID 14598089.
7. ^ Kimber TE, Thompson PD, Kiley MA (February 2008). "Resolution of dopamine dysregulation syndrome following cessation of dopamine agonist therapy in Parkinson's disease". J Clin Neurosci. 15 (2): 205–8. doi:10.1016/j.jocn.2006.04.019. PMID 18068992.
8. ^ Sriram A, Ward HE, Hassan A, Iyer S, Foote KD, Rodriguez RL, McFarland NR, Okun MS (February 2013). "Valproate as a treatment for dopamine dysregulation syndrome (DDS) in Parkinson's disease". Journal of Neurology. 260 (2): 521–517. doi:10.1007/s00415-012-6669-1. PMID 23007193.
9. ^ Epstein J, Madiedo CJ, Lai L, Hayes MT (2014). "Successful treatment of dopamine dysregulation syndrome with valproic acid". The Journal of Neuropsychiatry and Clinical Neurosciences. 26 (3): E3. doi:10.1176/appi.neuropsych.13060126. PMID 25093777.
10. ^ Pirritano D, Plastino M, Bosco D, Gallelli L, Siniscalchi A, De Sarro G (2014). "Gambling disorder during dopamine replacement treatment in Parkinson's disease: a comprehensive review". Biomed Res Int. 2014: 1–9. doi:10.1155/2014/728038. PMC 4119624. PMID 25114917.
11. ^ Connolly B, Fox SH (2014). "Treatment of cognitive, psychiatric, and affective disorders associated with Parkinson's disease". Neurotherapeutics. 11 (1): 78–91. doi:10.1007/s13311-013-0238-x. PMC 3899484. PMID 24288035.
12. ^ Averbeck BB, O'Sullivan SS, Djamshidian A (2014). "Impulsive and compulsive behaviors in Parkinson's disease". Annu Rev Clin Psychol. 10: 553–80. doi:10.1146/annurev-clinpsy-032813-153705. PMC 4197852. PMID 24313567.
13. ^ Parkinson J (2002). "An essay on the shaking palsy". J Neuropsychiatry Clin Neurosci. 14 (2): 223–36, discussion 222. doi:10.1176/appi.neuropsych.14.2.223. PMID 11983801.
14. ^ Cotzias GC (March 1968). "L-Dopa for Parkinsonism". N. Engl. J. Med. 278 (11): 630. doi:10.1056/NEJM196803142781127. PMID 5637779.
15. ^ a b Yahr MD, Duvoisin RC, Schear MJ, Barrett RE, Hoehn MM (October 1969). "Treatment of parkinsonism with levodopa". Arch. Neurol. 21 (4): 343–54. doi:10.1001/archneur.1969.00480160015001. PMID 5820999.
16. ^ Fernandez HH, Friedman JH (September 1999). "Punding on L-dopa". Mov. Disord. 14 (5): 836–8. doi:10.1002/1531-8257(199909)14:5<836::AID-MDS1018>3.0.CO;2-0. PMID 10495047.
17. ^ Vogel HP, Schiffter R (July 1983). "Hypersexuality--a complication of dopaminergic therapy in Parkinson's disease". Pharmacopsychiatria. 16 (4): 107–10. doi:10.1055/s-2007-1017459. PMID 6685318.
18. ^ Seedat S, Kesler S, Niehaus DJ, Stein DJ (2000). "Pathological gambling behaviour: emergence secondary to treatment of Parkinson's disease with dopaminergic agents". Depress Anxiety. 11 (4): 185–6. doi:10.1002/1520-6394(2000)11:4<185::AID-DA8>3.0.CO;2-H. PMID 10945141.
19. ^ Giovannoni G, O'Sullivan JD, Turner K, Manson AJ, Lees AJ (April 2000). "Hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies". J. Neurol. Neurosurg. Psychiatry. 68 (4): 423–8. doi:10.1136/jnnp.68.4.423. PMC 1736875. PMID 10727476.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Dopamine dysregulation syndrome
|
c1963757
| 28,172 |
wikipedia
|
https://en.wikipedia.org/wiki/Dopamine_dysregulation_syndrome
| 2021-01-18T18:35:58 |
{"umls": ["C1963757"], "wikidata": ["Q3508719"]}
|
Essential fructosuria
Other namesKetohexokinase deficiency[1]
Fructose
SpecialtyMedical genetics
Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.[2] Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver.[3] This defective degradation does not cause any clinical symptoms, fructose is either excreted unchanged in the urine or metabolized to fructose-6-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle.[2]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Cause[edit]
Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner.[3] Mutations in the KHK gene, located on chromosome 2p23.3-23.2 are responsible. The incidence of essential fructosuria has been estimated at 1:130,000.[4] The actual incidence is likely higher, because those affected are asymptomatic.
## Diagnosis[edit]
A diagnosis of essential fructosuria is typically made after a positive routine test for reducing sugars in the urine. An additional test with glucose oxidase must also be carried out (with a negative result indicating essential fructosuria) as a positive test for reducing sugars is most often a result of glucosuria secondary to diabetes mellitus. The excretion of fructose in the urine is not constant, it depends largely on dietary intake.[5][2]
## Treatment[edit]
No treatment is indicated for essential fructosuria, while the degree of fructosuria depends on the dietary fructose intake, it does not have any clinical manifestations.[2] The amount of fructose routinely lost in urine is quite small.[6] Other errors in fructose metabolism have greater clinical significance. Hereditary fructose intolerance, or the presence of fructose in the blood (fructosemia), is caused by a deficiency of aldolase B, the second enzyme involved in the metabolism of fructose. This enzyme deficiency results in an accumulation of fructose-1-phosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate. Clinically, patients with hereditary fructose intolerance are much more severely affected than those with essential fructosuria, with elevated uric acid, growth abnormalities and can result in coma if untreated.[2]
## References[edit]
1. ^ "Essential fructosuria". Orphanet. Retrieved 11 April 2019.
2. ^ a b c d e Steinmann B, Santer R (2012). "Disorders of Fructose Metabolism". In Saudubray J, van den Berghe G, Walter JH (eds.). Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 157–165. ISBN 978-3-642-15719-6.
3. ^ a b Online Mendelian Inheritance in Man (OMIM): 229800
4. ^ Steinmann B, Santer R, van den Berghe G (2006). "9.1 Essential Fructosuria]" (PDF). In Berghe G, Fernandes J, Saudubray J, Walter JH (eds.). Inborn Metabolic Diseases. Diagnosis and Treatment (fourth ed.). Springer. p. 137. ISBN 978-3-540-28783-4.
5. ^ Tran C (April 2017). "Inborn Errors of Fructose Metabolism. What Can We Learn from Them?". Nutrients. 9 (4). doi:10.3390/nu9040356. PMC 5409695. PMID 28368361.
6. ^ Katz J, Benumof J, Kadis LB (1990). Anesthesia and Uncommon Diseases (third ed.). Philadelphia: Saunders. ISBN 978-0-7216-2367-2.
## External links[edit]
Classification
D
* ICD-10: E74.1
* ICD-9-CM: 271.2
* OMIM: 229800
* MeSH: C538068
* DiseasesDB: 5001
* v
* t
* e
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Disaccharide catabolism
* Congenital alactasia
* Sucrose intolerance
Monosaccharide transport
* Glucose-galactose malabsorption
* Inborn errors of renal tubular transport (Renal glycosuria)
* Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism
Fructose:
* Essential fructosuria
* Fructose intolerance
Galactose / galactosemia:
* GALK deficiency
* GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis
* GSD type 0 (glycogen synthase deficiency)
* GSD type IV (Andersen's disease, branching enzyme deficiency)
* Adult polyglucosan body disease (APBD)
Glycogenolysis
Extralysosomal:
* GSD type III (Cori's disease, debranching enzyme deficiency)
* GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
* GSD type V (McArdle's disease, myophosphorylase deficiency)
* GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
* GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
* MODY 2/HHF3
* GSD type VII (Tarui's disease, phosphofructokinase deficiency)
* Triosephosphate isomerase deficiency
* Pyruvate kinase deficiency
Gluconeogenesis
* PCD
* Fructose bisphosphatase deficiency
* GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)
Pentose phosphate pathway
* Glucose-6-phosphate dehydrogenase deficiency
* Transaldolase deficiency
* 6-phosphogluconate dehydrogenase deficiency
Other
* Hyperoxaluria
* Primary hyperoxaluria
* Pentosuria
* Aldolase A deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Essential fructosuria
|
c0268160
| 28,173 |
wikipedia
|
https://en.wikipedia.org/wiki/Essential_fructosuria
| 2021-01-18T18:32:25 |
{"gard": ["6471"], "mesh": ["C538068"], "umls": ["C0268160", "C1416630"], "icd-9": ["271.2"], "icd-10": ["E74.1"], "orphanet": ["2056"], "wikidata": ["Q2791374"]}
|
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Male genital disease" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message)
varicocole
SpecialtyUrology
A male genital disease is a condition that affects the male reproductive system. An example is orchitis.
## References[edit]
## External links[edit]
Classification
D
* ICD-10: N40-N51
* ICD-9-CM: 600-608
* MeSH: D005832
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
* Seminal vesiculitis
External
Penis
* Balanoposthitis / Balanitis
* Balanitis plasmacellularis
* Pseudoepitheliomatous keratotic and micaceous balanitis
* Phimosis
* Paraphimosis
* Priapism
* Sexual dysfunction
* Erectile dysfunction
* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness syndrome
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
non infection disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Male genital disease
|
c0236099
| 28,174 |
wikipedia
|
https://en.wikipedia.org/wiki/Male_genital_disease
| 2021-01-18T18:38:16 |
{"mesh": ["D005832"], "umls": ["C0236099"], "wikidata": ["Q6742925"]}
|
Actinomycetoma is a chronic bacterial subcutaneous infection caused by Actinomyces that affect the skin and connective tissue.[1] It is, therefore, a form of actinomycosis.[2] Mycetoma is a broad term which includes actinomycetoma and eumycetoma under it. However, eumycetoma is caused by fungal infection in contrast to actinomycetoma that is caused by bacteria mostly anaerobic. The predominant site of infection is the foot and leg. Both actinomycetoma and eumycetoma show very similar clinical and radiological presentations. And both chronic infections are endemic in tropical countries.
## Contents
* 1 Clinical presentation
* 2 Diagnosis
* 3 Differential diagnosis
* 4 References
## Clinical presentation[edit]
## Diagnosis[edit]
## Differential diagnosis[edit]
## References[edit]
1. ^ Viguier, Manuelle; Lafaurie, Matthieu (15 January 2015). "Actinomycetoma". New England Journal of Medicine. 372 (3): 264. doi:10.1056/NEJMicm1316013. PMID 25587950.
2. ^ Arenas, Roberto; Fernandez Martinez, Ramón F.; Torres-Guerrero, Edoardo; Garcia, Carlos (2017). "Actinomycetoma: an update on diagnosis and treatment". Cutis. 99 (2): –11–E15. ISSN 2326-6929. PMID 28319638.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Actinomycetoma
|
c1261283
| 28,175 |
wikipedia
|
https://en.wikipedia.org/wiki/Actinomycetoma
| 2021-01-18T19:09:49 |
{"mesh": ["D008271"], "umls": ["C1261283"], "icd-10": ["B47.1"], "wikidata": ["Q4676975"]}
|
A number sign (#) is used with this entry because glycogen storage disease IXc (GSD9C) is caused by homozygous and compound heterozygous mutation in the PHKG2 gene (172471), which encodes the hepatic and testis isoform of the gamma subunit of phosphorylase kinase, on chromosome 16p11.
For a general description and a discussion of genetic heterogeneity of GSD IX (GSD9), see GSD IXa (GSD9A; 306000).
Description
Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel et al., 1998).
Clinical Features
Lerner et al. (1982) described 3 sibs, a boy and 2 girls, with clinical, laboratory, and morphologic findings suggestive of glycogen storage disease IXa. However, the sibs in this study had an increased glycogen content not only in the liver but also in muscle, and reduced phosphorylase kinase activity in liver, muscle, erythrocytes, and leukocytes. Lerner et al. (1982) labeled this condition glycogen storage disease IXc.
Sovik et al. (1982) reported a Norwegian girl with autosomal recessive GSD9C who was followed-up by Maichele et al. (1996). The parents, who were fourth cousins, and a sister were unaffected. The proband presented at 5 months of age, and again at 3 years, with marked hepatomegaly, marked generalized muscular hypotonia, growth retardation, elevated serum transaminases, and massive liver glycogenosis. PHK activity was barely detectable in liver; in a muscle biopsy, PHK activity was moderately reduced (35% of controls) but muscle glycogen content was nevertheless low. No liver fibrosis was observed. During follow-up, she presented fasting hypoglycemia which gradually subsided. Her growth and development were markedly delayed, but she attained a normal height of 172 cm at age 18. Menarche was at age 17. The relative size of the liver gradually decreased, and at age 18 serum transaminase activities were approaching normal ranges. Serum cholesterol was normal and hypoglycemic symptoms were not noted.
Maichele et al. (1996) reported a French girl with the disorder, confirmed by genetic analysis (G189E; 172471.0002). She was hospitalized at 7 months of age because of hypoglycemic episodes and pronounced hepatomegaly. Mild muscle hypotonia and retardation of growth and motor development were also observed. Notable laboratory findings were persistent hypoglycemia with acidosis, and elevated triglycerides and transaminases. Liver histology revealed fine portal fibrosis.
Maichele et al. (1996) described a Pakistani girl, whose parents were first cousins, with glycogen storage disease IXc confirmed by genetic analysis (V106E; 172471.0003). The girl was admitted at the age of 15 months for investigation of a distended abdomen due to hepatomegaly with no other clinical symptoms except growth retardation. However, she had increased serum ALT and triglycerides, increased liver glycogen, and severe fibrosis and proliferation of bile ducts on liver biopsy.
Beauchamp et al. (2007) reported 2 unrelated Pakistani children with GSD IXc confirmed by genetic analysis. Age at diagnosis was about 2 years. Clinical features included hepatomegaly, splenomegaly, short stature in childhood, liver dysfunction, hypoglycemia, lactic acidosis, hyperlipidemia in 1, and fasting ketosis in the other. Muscle weakness and fatigue were also noted. The authors emphasized that molecular analysis results in accurate diagnosis for GSD9 when enzymology is uninformative, and thus allows for proper genetic counseling.
Bali et al. (2014) reported 5 patients, aged 5 to 16 years, with GSD IXc confirmed by genetic analysis. The patients presented between ages 4 months and 2 years. Symptoms included hepatomegaly, growth retardation, hypoglycemia, hypoglycemic seizures, hypotonia, and fasting ketosis. Laboratory studies showed elevated liver enzymes and increased triglycerides. The severity of the disorder was variable, but all patients showed improvement of biochemical abnormalities with age. All except 1 also showed growth improvement with age. All 4 patients who had had a liver biopsy showed portal fibrosis, but none had frank cirrhosis.
Roscher et al. (2014) reported on 21 patients (17 males and 4 females) from 17 unrelated families with GSD IXa (306000), GSD IXb (261750), GSD IXc, or GSD VI (232700), which are caused by phosphorylation deficiencies. Only 1 patient (with GSD IXc) had previously been reported (Burwinkel et al., 2003). The average age was 11.66 years, with a range of 3 to 18 years. Eleven patients (53%) had GSD IXa1; 3 (14%) had GSD IXb; 3 (14%) had GSD IXc; and 4 (19%) had GSD VI. The average age of initial presentation was 20 months (range 4-160 months). The GSD IXb patients presented earliest at the age of 5 months (range 4-6 months). Hepatomegaly was present in 95% of patients on physical examination and 100% on liver ultrasound. Four patients presented with failure to thrive, and 2 with short stature. None of the patients had intellectual disability or global developmental delay at most recent evaluation, although some had early developmental delay. Alanine transaminase (ALT) was elevated in 18 patients (86%), and aspartate transaminase (AST) was elevated in 19 (90%). Hypercholesterolemia was present in 14 of the 21 patients, and hypertriglyceridemia was present in 16. While previous reports noted hypoglycemia in 17 to 44% of patients with GSD VI or subtypes of GSD IX, hypoglycemia occurred in less than 5% of the patients in the cohort of Roscher et al. (2014). Two patients had developed likely liver adenomas at long-term follow-up, which had not been theretofore reported.
Molecular Genetics
In 3 patients with GSD IXc, born of consanguineous parentage, Maichele et al. (1996) found homozygous PHKG2 mutations (172471.0001-172471.0003). One of the patients had been reported by Sovik et al. (1982).
Burwinkel et al. (1998) identified homozygous translation-terminating mutations in the PHKG2 gene, R442X (172471.0004) and 277delC (172471.0005), in 2 patients with liver phosphorylase kinase deficiency who developed cirrhosis in childhood. As liver phosphorylase kinase deficiency is generally a benign condition and progression to cirrhosis is very rare, the findings suggested to the authors that PHKG2 mutations are particularly associated with an increased cirrhosis risk.
Burwinkel et al. (2000) reported compound heterozygosity for missense mutations in the PHKG2 gene (172471.0006; 172471.0007) in a child with GSD IXc.
Animal Model
Malthus et al. (1980) described deficiency of liver phosphorylase kinase in rats and concluded that it was an autosomal recessive trait. Apart from hepatomegaly, the affected rats appear healthy. Clark and Haynes (1988) described autosomal recessive glycogen storage disease in the rat (gsd/gsd). Maichele et al. (1996) identified a homozygous mutation in the rat Phkg2 gene (D215N) as responsible for the gsd phenotype in the rat.
INHERITANCE \- Autosomal recessive GROWTH Height \- Growth retardation in childhood \- Normal final adult height ABDOMEN Liver \- Hepatomegaly \- Fibrosis \- Bile duct proliferation \- Cirrhosis \- Hepatic glycogen accumulation Spleen \- Splenomegaly MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Mildly delayed motor development LABORATORY ABNORMALITIES \- Fasting hypoglycemia \- Lactic acidosis \- Fasting ketosis \- Abnormal liver enzymes \- Increased serum triglycerides \- Decreased PHK activity in liver \- Moderately decreased to normal PHK activity in skeletal muscle MISCELLANEOUS \- Onset in infancy or early childhood \- Clinical and biochemical abnormalities improve with age MOLECULAR BASIS \- Caused by mutation in the testis/liver gamma-2 subunit of phosphorylase kinase gene (PHKG2, 172471.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
GLYCOGEN STORAGE DISEASE IXc
|
c2751643
| 28,176 |
omim
|
https://www.omim.org/entry/613027
| 2019-09-22T15:59:56 |
{"doid": ["0111043"], "mesh": ["C567809"], "omim": ["613027"], "orphanet": ["264580"], "synonyms": ["Alternative titles", "GSD IXc"], "genereviews": ["NBK55061"]}
|
A rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.
## Epidemiology
The prevalence is unknown.
## Clinical description
Disease onset occurs in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia can occur due to calcium salt loss from the bones. Hypercalciuria, nephrolithiasis and nephrocalcinosis may result from long term chronic metabolic acidosis. Renal failure has not been described.
## Etiology
AD dRTA is due to mutations in the SLC4A1 gene (17q21.31) encoding the band 3 anion transport protein (AE1). This protein is found in the alpha-intercalated distal tubular cells and red blood cell membranes. Mutations in the SLC4A1 gene show a pleiotrophic effect that result in two distinct phenotypes: dRTA or red cell dysmorphologies (hereditary spherocytosis or Southeast Asian ovalocytosis) (see these terms).
## Genetic counseling
This disease is inherited in an autosomal dominant manner and genetic counseling is possible.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autosomal dominant distal renal tubular acidosis
|
c1704380
| 28,177 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93608
| 2021-01-23T18:26:32 |
{"gard": ["4668"], "mesh": ["C538565", "D000141"], "omim": ["179800"], "umls": ["C2931885"], "icd-10": ["N25.8"], "synonyms": ["AD dRTA"]}
|
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
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Autosomal dominant spastic paraplegia type 73
|
c4225387
| 28,178 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444099
| 2021-01-23T17:03:22 |
{"omim": ["616282"], "icd-10": ["G11.4"], "synonyms": ["SPG73"]}
|
A number sign (#) is used with this entry because susceptibility to familial breast-ovarian cancer-1 (BROVCA1) results from heterozygous germline mutations in the BRCA1 (113705) gene on chromosomes 17q21.
See also susceptibility to familial breast-ovarian cancer-2 (BROVCA2; 612555), which results from mutations in the BRCA2 gene (600185) on chromosome 13q12.3; and BROVCA3 (613399), caused by mutation in the RAD51C gene (602774) on chromosome 17q21-q24.
For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively.
Clinical Features
### Familial Breast Cancer
Features characteristic of familial, versus sporadic, breast cancer are younger age at diagnosis, frequent bilateral disease, and frequent occurrence of disease among men Hall et al. (1990).
According to the conclusions of the Breast Cancer Linkage Consortium (1997), the histology of breast cancers in women predisposed by reason of carrying BRCA1 and BRCA2 mutations differs from that in sporadic cases, and there are differences between breast cancers in carriers of BRCA1 and BRCA2 mutations. The findings were interpreted as suggesting that breast cancer due to BRCA1 has a different natural history from BRCA2 or apparently sporadic disease, which may have implications for screening and management.
### Proliferative Breast Disease (PBD)
In studies of 103 women from 20 kindreds that were selected for the presence of 2 first-degree relatives with breast cancer and of 31 control women, Skolnick et al. (1990) found, by 4-quadrant fine-needle breast aspirates, evidence of proliferative breast disease in 35% of clinically normal female first-degree relatives of breast cancer cases and in 13% of controls. Genetic analysis suggested that genetic susceptibility caused both PBD, a precursor lesion, and breast cancer in these kindreds. The study supported the hypothesis that this susceptibility is responsible for a considerable proportion of breast cancer, including unilateral and postmenopausal breast cancer.
### Ovarian Cancer
Fraumeni et al. (1975) reported 6 families with multiple cases of ovarian cancer, mainly serous cystadenocarcinoma. Breast cancer also aggregated in 3 of the 6. Prophylactic oophorectomy was performed in 14 asymptomatic women from 4 of the families. Review of the microscopic sections from 8 women showed that 3, representing 2 families, had abnormalities of ovarian surface epithelium and mesothelial tissue.
Nevo (1978) described 2 families with multiple cases of ovarian papillary adenocarcinoma. In 1 family the tumor was detected in 4 females, of whom 2 had had breast cancer before the development of ovarian cancer.
Among 28 women in 16 families at high risk of ovarian carcinoma, in whom prophylactic oophorectomy was performed, 3 subsequently developed disseminated intraabdominal malignancy (Tobacman et al., 1982). The primary site was uncertain despite extensive investigations, and the tumors were indistinguishable histopathologically from ovarian carcinoma. The authors concluded that in ovarian-cancer-prone families the susceptible tissue is not limited to the ovary, but includes other derivatives of the coelomic epithelium, from which primary peritoneal neoplasms may arise. Lynch et al. (1986) expanded on this hypothesis and postulated that patients with hereditary predisposition to ovarian carcinoma harbor the first germinal hit in both the epithelial cells of the ovary as well as their derivatives in the coelomic mesothelium. These patients may then be inordinately susceptible to carcinogenesis from the second, somatic, hit in these same tissues. Lynch et al. (1986) referred to the condition as 'familial peritoneal ovarian carcinomatosis.'
Schildkraut et al. (1989) found a significant genetic correlation between ovarian and breast cancer. On the other hand, evidence for a significant genetic overlap between endometrial cancer (608089) and either ovarian or breast cancer was not found. In a multicenter population-based case-control study of 493 women aged 20 to 54 who had been newly diagnosed with epithelial ovarian cancer, Schildkraut and Thompson (1988) found that the odds ratios for ovarian cancer in first- and second-degree relatives were 3.6 and 2.9, respectively, compared with women with no family history of ovarian cancer. The null hypothesis of no association was excluded on both the maternal and paternal sides of the families studied.
Among 310 Israeli Jewish women with ovarian cancer of epithelial origin, Menczer and Ben-Baruch (1991) found 24 distributed in 8 families with multiple cases. Of first-degree relatives of these probands, 5 underwent prophylactic oophorectomy, and early ovarian carcinoma was found in 1.
Evans et al. (1992) reported a woman with ovarian cancer who developed bilateral medullary carcinoma of the breast after oophrectomy, all by age 40 years. Family history revealed 7 additional family members with ovarian cancer, 1 of whom also developed breast cancer. The mode of transmission was consistent with autosomal dominant inheritance. Twelve female family members had underwent bilateral prophylactic oophorectomy and been given hormone replacement therapy.
To address whether or not there is an association between the presence of a BRCA1 mutation and the subtype of epithelial ovarian carcinoma, Narod et al. (1994) reviewed the histology of 49 ovarian cancers seen in 16 hereditary breast-ovarian cancer families shown to be linked to BRCA1 markers. Of the 49 cancers, 5 (10.2%) were mucinous. By haplotype analysis with 17q markers, they determined the BRCA1 carrier status of 40 of the cases; 36 occurred in women who were BRCA1 mutation carriers and 4 were sporadic in that they occurred in noncarriers. Only 2 of the 36 ovarian cancers found in BRCA1 carriers were mucinous, compared with 3 or 4 mucinous carcinomas observed in BRCA1 noncarriers.
Liede et al. (1998) raised the question of the existence of hereditary site-specific ovarian cancer as a genetic entity distinct from hereditary breast-ovarian cancer syndrome. They identified a large Ashkenazi Jewish kindred with 8 cases of ovarian carcinoma and no cases of breast cancer. However, in all but 1 of the ovarian cancer cases, 185delAG mutation of the BRCA1 gene (113705.0003) segregated with the cancer. Liede et al. (1998) concluded that site-specific ovarian cancer families probably represent a variant of the breast-ovarian cancer syndrome, attributable to mutation in either BRCA1 or BRCA2.
Patients with germline BRCA1 mutations may develop papillary serous carcinoma of the peritoneum (PSCP), a malignancy that diffusely involves peritoneal surfaces, sparing or only superficially involving the ovaries. PSCP is histologically indistinguishable from serous epithelial ovarian carcinoma, and it may develop years after oophorectomy. Schorge et al. (1998) used the androgen receptor (AR; 313700) gene locus to test the hypothesis that some cases of PSCP have a multifocal origin and to determine if patients with germline BRCA1 mutations develop multifocal PSCP. Specimens were studied from 22 women with PSCP. The AR gene locus was evaluated for patterns of loss of heterozygosity and X-chromosome inactivation. The methylation-sensitive HpaII restriction enzyme was used to differentiate the active and inactive X chromosomes. They found patterns of selective LOH at the AR locus in 5 (23%) of the 22 subjects, consistent with multifocal, polyclonal disease origin. Two patients with selective LOH also had alternating X-chromosome inactivation patterns. Patients with germline BRCA1 mutations were more likely to have evidence of multifocal disease.
Mapping
By linkage analysis of 26 families including 146 patients with early-onset breast cancer, Hall et al. (1990) identified a locus on chromosome 17q21 (lod score of 5.98 for linkage of breast cancer susceptibility to marker D17S74). There were negative lod scores at this locus for families with late-onset disease. The 329 participating relatives lived in 40 states of the United States, Puerto Rico, Canada, the United Kingdom, and Colombia. The families shared the epidemiologic features characteristic of familial, versus sporadic, breast cancer: younger age at diagnosis, frequent bilateral disease, and frequent occurrence of disease among men. Candidate genes in the region included HER2 (ERBB2; 164870), estradiol-17-beta-dehydrogenase (HSD17B1; 109684); a cluster of homeobox-2 genes (e.g., 142960); retinoic acid receptor alpha (180240); and INT4 (165330).
Linkage analyses in studies of 103 women from 20 kindreds failed to show linkage with D17S74 in either early- or late-age onset Skolnick et al. (1990).
Narod et al. (1991) investigated 5 large families with a hereditary predisposition to cancer of the breast and ovary. Three families showed linkage with the D17S74 marker used by Hall et al. (1990). For the largest family the lod score was 2.72 at a recombination fraction of 0.07. Narod et al. (1991) suggested that about 60% of breast cancer families have linkage of the susceptibility to the chromosome 17q locus. Lynch and Watson (1992) reported extension of the linkage work to 19 families, most of which showed the hereditary breast-ovarian cancer syndrome. In 70% of families, linkage to 17q was demonstrated.
Hall et al. (1992) found that the most closely linked marker in their repertoire was D17S579, a highly informative CA repeat polymorphism located at 17q21. There were no recombinants with inherited breast or ovarian cancer in 79 informative meioses in the 7 families with early-onset disease; lod score = 9.12 at 0 recombination. Goldgar et al. (1992) identified a Utah kindred in which the BRCA1 locus was linked to 17q markers with odds in excess of a million to one. The kindred included 170 descendants of 2 Utah pioneers of 1847, containing a total of 24 cancer cases (16 breast, 8 ovarian). The median age of onset was 48 for breast cancer and 53 for ovarian cancer. The penetrance of the BRCA1 gene was estimated to be 0.92 by age 70. Easton et al. (1993) reported the results of genetic linkage analysis in 214 families. In 15 accompanying papers, confirmatory evidence on the linkage was reported from Icelandic, Scottish, Dutch, Swedish, and other families including one African American family.
If the gene predisposing to breast cancer and ovarian cancer mapped to 17q12-q21 is a tumor suppressor gene, one would expect, based on the Knudson hypothesis, that tumors from affected family members would show loss of heterozygosity (LOH) affecting the wildtype chromosome. In 4 multiple-case breast-ovarian cancer families, Smith et al. (1992) indeed found that in each of 9 tumors that showed allele loss, the losses were from the wildtype chromosome. Kelsell et al. (1993) found the same for each of 7 breast tumors from a single multi-affected breast/ovarian cancer pedigree. In the same family, they generated linkage data which, in combination with previously published information, suggested that the BRCA1 gene is contained in a region estimated to be 1 to 1.5 Mb long.
Cornelis et al. (1995) performed linkage studies in 59 consecutively collected Dutch breast cancer families, including 16 families with at least 1 case of ovarian cancer. They used a family intake cutoff of at least 3 first-degree relatives with breast and/or ovarian cancer at any age. Significant evidence for linkage was found only among the 13 breast cancer families with a mean age at diagnosis of less than 45 years. An unexpectedly low proportion of breast-ovarian cancer families were estimated to be linked to BRCA1, which could have been due to a founder effect in the Dutch population.
Tonin et al. (1995) studied 26 Canadian families with hereditary breast or ovarian cancer for linkage to markers flanking BRCA1. Of the 15 families that contained cases of ovarian cancer, 94% were estimated to be linked to BRCA1. In contrast, there was no overall evidence of linkage in the group of 10 families with breast cancer without ovarian cancer.
Narod et al. (1995) reported the results of linkage analysis of 145 breast-ovarian families, each of which had 3 or more cases of early-onset breast cancer (age less than 60) or of ovarian cancer. All families had at least 1 case of ovarian cancer (there were 9 site-specific ovarian cancer families). Overall, they estimated that 76% of families were linked to the BRCA1 locus. At that time, the group stated that none of the 13 families with cases of male breast cancer appeared to be linked to BRCA1. In their letter, Narod et al. (1995) summarized their updated findings and reported a family with male breast cancer that showed a mutation (113705.0003) in BRCA1; Struewing et al. (1995) had also reported such a family. Their final results indicated that BRCA1 and BRCA2 account for the most breast-ovarian cancer families.
### Linkage Heterogeneity
Margaritte et al. (1992) found that when account is made for the higher relative probability of sporadic rather than inherited disease for late-onset cases of breast cancer, later-onset families are much less informative and linkage heterogeneity based on age at onset is no longer significant. Furthermore, for the sample of families as a whole, linkage is significant at a recombination fraction in the 17q21 region. Although there is probably more than one gene for inherited breast cancer, age at onset may not be a reflection of this heterogeneity. Sobol et al. (1992) also pointed to genetic heterogeneity of early-onset familial breast cancer; in an extensively affected family they found no evidence of linkage to markers on 17q.
Inheritance
Claus et al. (1991) presented evidence for the existence of a rare autosomal dominant allele (q = 0.0033) leading to increased susceptibility to breast cancer in a dataset based on 4,730 histologically confirmed breast cancer patients aged 20 to 54 years and 4,688 controls. The cumulative lifetime risk of breast cancer for women who carried the susceptibility allele was predicted to be approximately 92%, while the cumulative lifetime risk for noncarriers was estimated to be about 10%. Hall et al. (1992) indicated that the proportion of older-onset breast cancer attributable to BRCA1 was not yet determinable, because both inherited and sporadic cases occur in older-onset families.
Rebbeck et al. (1996) performed specific studies of 23 families identified through 2 high-risk breast cancer research programs. In 14 (61%) it was possible to attribute the pattern of hereditary cancer to BRCA1 by a combination of linkage and mutation analyses. No families were attributed to BRCA2. In 5 families (22%), evidence against linkage to both BRCA1 and BRCA2 was found; no BRCA1 or BRCA2 mutations were detected in these 5 families. The BRCA1 or BRCA2 status of the 4 remaining families (17%) could not be determined.
Ford et al. (1998) assessed the contribution of BRCA1 and BRCA2 to inherited breast cancer by linkage and mutation analysis in 237 families, each with at least 4 cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers. Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16%, suggesting other predisposition genes. The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2. Conversely, the majority (76%) of families with both male and female breast cancer were due to BRCA2. The largest proportion (67%) of families due to other genes were families with 4 or 5 cases of female breast cancer only. Among those families with disease due to BRCA1 that were tested by one of the standard screening methods, mutations were detected in the coding sequence or splice sites in an estimated 63%. The estimated sensitivity was identical for direct sequencing and other techniques.
To estimate the average magnitude of risks of breast and ovarian cancer associated with germline mutations in BRCA1 and BRCA2, Antoniou et al. (2003) pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (2%) breast cancer or epithelial ovarian cancer (12%), 500 of whom had been found to carry a germline mutation in BRCA1 or BRCA2. The average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% for breast cancer and 39% for ovarian cancer. The corresponding estimates for BRCA2 were 45% and 11%. Relative risks of breast cancer declined significantly with age for BRCA1-mutation carriers but not for BRCA2-mutation carriers. Risks in carriers were higher when based on index breast cancer cases diagnosed under the age of 35 years of age. They found some evidence for a reduction in risk in women from earlier birth cohorts and for variation in risk according to mutation position for both genes.
In a study of 515 women with invasive ovarian cancer in Ontario, Canada, Risch et al. (2001) found 39 mutations in the BRCA1 gene and 21 in the BRCA2 gene, for a total mutation frequency of 11.7%. Hereditary ovarian cancers diagnosed at less than 50 years of age were mostly (83%) due to BRCA1, whereas the majority (60%) of those diagnosed at more than 60 years of age were due to BRCA2. Mutations were found in 19% of women reporting first-degree relatives with breast or ovarian cancer and in 6.5% of women with no affected first-degree relatives. For carriers of BRCA1 mutations, the estimated penetrance by age 80 years was 36% for ovarian cancer and 68% for breast cancer. In breast cancer risk for first-degree relatives, there was a strong trend according to mutation location along the coding sequence of BRCA1, with little evidence of increased risk for mutations in the 5-prime fifth, but 8.8-fold increased risk for mutations in the 3-prime fifth, corresponding to a carrier penetrance of essentially 100%. Ovarian, colorectal, stomach, pancreatic, and prostate cancer occurred among first-degree relatives of carriers of BRCA2 mutations only when mutations were in the ovarian cancer-cluster region (OCCR) of exon 11, whereas an excess of breast cancer was seen when mutations were outside the OCCR. For cancers of all sites combined, the estimated penetrance of BRCA2 mutations was greater for males than for females, 53% versus 38%. Risch et al. (2001) suggested that the trend in breast cancer penetrance, according to mutation location along the BRCA1 coding sequence, may have an impact on management decisions for carriers of BRCA1 mutations.
Struewing et al. (1995) stated that more than 50 unique mutations had been detected in the BRCA1 gene in the germline of individuals with breast and ovarian cancer. In high-risk pedigrees, female carriers of a BRCA1 mutation had an 80 to 90% lifetime risk of breast cancer and a 40 to 50% risk of ovarian cancer. Couch et al. (1997) identified BRCA1 mutations in 16% of women with a family history of breast cancer. Only 76% of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations. They concluded that even in a referral clinic specializing in screening women from high-risk families, most tests for BRCA1 mutations will be negative and, therefore, uninformative.
Nathanson et al. (2001) reviewed breast cancer genetics. They stated that germline mutations in BRCA1 had been identified in 15 to 20% of women with a family history of breast cancer and 60 to 80% of women with a family history of both breast and ovarian cancer. They cited a lifetime breast cancer risk of 60 to 80% for female BRCA1 mutation carriers, although penetrance estimates as low as 36% had been reported in a series of Jewish breast cancer cases selected without regard to family history (Fodor et al., 1998). For carriers of BRCA2 mutations, they cited a lifetime breast cancer risk of 60 to 85% and a lifetime ovarian cancer risk of 10 to 20%. Men with germline mutations in BRCA2, unlike those with germline mutations in BRCA1, had an estimated 6% lifetime risk of breast cancer, a 100-fold increase over the male population risk.
### Genetic Counseling
Lynch and Watson (1992) reported the first experience with genetic counseling and targeted management of patients demonstrated to be at risk for hereditary breast-ovarian cancer by use of multipoint linkage analysis in the largest and most informative of the kindreds studied to date. The single family provided a lod score of 3.03. In those persons shown by linkage to be at risk, they recommended completing their families before the age of 35 so that prophylactic oophorectomy could be performed at an early age. Cornelis et al. (1995) proposed that, during an interim period, BRCA1 mutation testing be offered only to families with a strong positive family history for early-onset breast and/or ovarian cancer.
Friedman et al. (1998) suggested that identification of additional carriers of more than one mutation will increase our understanding between various mutations and will improve genetic counseling.
Meijers-Heijboer et al. (2000) studied a large cohort of Dutch individuals at 50% or 25% risk of BRCA1 or BRCA2 mutation. Presymptomatic DNA testing was requested by 48% (198 of 411) of women and 22% (59 of 271) of men. In women, DNA testing was significantly more frequent at young age, in those who had children, and at high pretest genetic risk for a mutation. Of the unaffected women with an identified mutation who were eligible for prophylactic surgery, 51% (35 of 68) opted for bilateral mastectomy and 64% (29 of 45) for oophorectomy. Age was significantly associated with prophylactic oophorectomy, but not with prophylactic mastectomy, although there was a tendency toward mastectomy at younger ages.
Watson et al. (2003) studied the change in distribution of carrier risk status resulting from molecular testing in 75 families with hereditary breast-ovarian cancer and 47 families with hereditary nonpolyposis colorectal cancer (HNPCC; 120435). Carrier risk status changes from uncertainty to certainty (i.e., to carrier or to noncarrier) accounted for 89% of risk changes resulting from testing. These risk changes affect cancer prevention recommendations, most commonly reducing their burden. Watson et al. (2003) found that 60% of persons with a carrier risk status change were not themselves tested; their risk status changed because of a relative's test result. They noted that practices in use at the time did not ensure that untested family members were informed about changes in their carrier risk status resulting from mutation testing of their relatives.
Women in familial BRCA1/BRCA2 breast cancer kindreds who test negative for the family mutation are usually reassured and additional breast cancer surveillance is discontinued. However, Smith et al. (2007) postulated that in high-risk families, such as those seen in clinical genetic centers, the risk of breast cancer may be influenced not only by the BRCA1/BRCA2 mutation but also by modifier genes. One manifestation of this would be the presence of phenocopies in BRCA1/BRCA2 kindreds. They reviewed 277 families with pathogenic BRCA1/BRCA2 mutations and identified 28 breast cancer phenocopies. Phenocopies constituted up to 24% of tests on women with breast cancer after the identification of the mutation in the proband. The standardized incidence ratio for women who tested negative for the BRCA1/BRCA2 family mutation was 5.3 for all relatives, 5.0 for all first-degree relatives, and 3.2 (95% confidence interval 2.0-4.9) for first-degree relatives in whose family all other cases of breast and ovarian cancer could be explained by the identified mutation. Thirteen of 107 (12.1%) first-degree relatives with breast cancer and no unexplained family history tested negative. Thus, in high-risk families, women who test negative for the familial BRCA1/BRCA2 mutation have an increased risk of breast cancer consistent with genetic modifiers. In light of this, Smith et al. (2007) suggested that such women should be considered for continued surveillance.
Molecular Genetics
In affected members of 5 of 8 kindreds with hereditary breast-ovarian cancer syndrome, Miki et al. (1994) identified 5 different heterozygous pathogenic mutations in the BRCA1 gene (see, e.g., 113705.0035). The mutations included an 11-bp deletion, a 1-bp insertion, a stop codon, a missense substitution, and an inferred regulatory mutation.
Castilla et al. (1994) found 8 putative disease-causing mutations in the BRCA1 gene (see, e.g., 113705.0001; 113705.0006; 113705.0013; 113705.0014) in 50 probands with a family history of breast and/or ovarian cancer. The authors used single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. The data were considered consistent with a tumor suppressor model. The heterogeneity of mutations, coupled with the large size of the gene, indicated that clinical application of BRCA1 mutation testing would be technically challenging.
In 10 families with breast-ovarian cancer, Friedman et al. (1994) used SSCP analysis and direct sequencing to identify 9 different heterozygous BRCA1 mutations (see, e.g., 113705.0004; 113705.0007-113705.0009). The mutations in 7 instances led to protein truncation at sites throughout the gene. A missense mutation, which occurred independently in 2 families, led to loss of a cysteine in the zinc-binding domain. An intronic single basepair substitution destroyed an acceptor site and activated a cryptic splice site, leading to a 59-bp insertion and chain termination. In 4 families with both breast and ovarian cancer, chain termination mutations were found in the N-terminal half of the protein.
In a population-based series of 54 breast cancer cases from southern California, Friedman et al. (1997) found no instance of germline mutation in the BRCA1 gene but found 2 male breast cancer patients who carried novel truncating mutations in the BRCA2 gene. Only 1 of the 2 had a family history of cancer, namely, ovarian cancer in a first-degree relative.
### Modifier Genes
Women who carry a mutation in the BRCA1 gene have an 80% risk of breast cancer and a 40% risk of ovarian cancer by the age of 70 years. Phelan et al. (1996) demonstrated that a modifier of this risk is the HRAS1 (190020) variable number of tandem repeats (VNTR) polymorphism, located 1 kb downstream of the HRAS1 oncogene. Individuals who have rare alleles of this VNTR had been found to have an increased risk of certain types of cancer, including breast cancer. Phelan et al. (1996) claimed that this was the first study to show the effect of a modifying gene on the penetrance of an inherited cancer syndrome.
Nathanson et al. (2002) used nonparametric linkage analysis to determine whether allele sharing of chromosomes 4p, 4q, and 5q was observed preferentially within 16 BRCA1 mutation families in women with BRCA1 mutations and breast cancer. No significant linkage on chromosome 4p or 4q was observed associated with breast cancer risk in BRCA1 mutation carriers. However, the authors observed a significant linkage signal at D5S1471 on chromosome 5q (P = 0.009) in all the families analyzed together. The significance of this observation increased in the subset of families with an average of breast cancer diagnosis less than 45 years (P = 0.003). The authors suggested that one or more genes on chromosome 5q33-q34 modify breast cancer risk in BRCA1 mutation carriers.
In a sample of 10,358 carriers of BRCA1 or BRCA2 gene mutations from 23 studies, Antoniou et al. (2008) observed an association between breast cancer and a SNP (rs3803662) in the TNRC9 gene (TOX3; 611416) (per allele hazard ratio of 1.13, p(trend) = 5 x 10(-5)). The authors postulated a multiplicative effect for the SNP on breast cancer risk.
Clinical Management
The risk of ovarian cancer is reduced by 50% or more in unselected women with long-term use of oral contraceptives (Franceschi et al., 1991; Whittemore et al., 1992). To evaluate the potential benefit of oral contraceptive use in women at high risk for ovarian cancer, Narod et al. (1998) studied 207 patients with BRCA1 or BRCA2 mutations and ovarian cancer and 161 of their sisters, who served as controls. Their findings suggested that oral contraceptive use protects against ovarian cancer in carriers of either the BRCA1 or BRCA2 mutation.
Meijers-Heijboer et al. (2001) conducted a prospective study of 139 women with pathogenic BRCA1 or BRCA2 mutations without a history of breast cancer; 76 underwent prophylactic mastectomy and 63 remained under regular surveillance. They found that prophylactic bilateral total mastectomy reduced the incidence of breast cancer at 3 years of follow-up. Eisen and Weber (2001) stated that prophylactic mastectomy is 'clearly the right choice for some women. For the remainder, oophorectomy and tamoxifen in conjunction with intensive screening that includes breast MRI is a viable alternative.' They noted the need for underlying and novel prospective studies to define the role of prophylactic surgery, new chemopreventive agents, and optimal screening strategies.
Kauff et al. (2002) and Rebbeck et al. (2002) reported the results of studies indicating that prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations can decrease the risk of breast cancer and BRCA-related gynecologic cancer. In the study of Kauff et al. (2002), of 98 women who had salpingo-oophorectomy, 3 developed breast cancer and 1 developed peritoneal cancer. Among the 72 women who chose surveillance alone, breast cancer was diagnosed in 8, ovarian cancer in 4, and peritoneal cancer in 1. In the study of Rebbeck et al. (2002), 6 of 259 women who underwent prophylactic oophorectomy (2.3%) received a diagnosis of stage I ovarian cancer at the time of the procedure; 2 women (0.8%) received a diagnosis of papillary serous peritoneal carcinoma 3.8 and 8.6 years after bilateral prophylactic oophorectomy. Among the controls, 58 women (19.9%) received a diagnosis of ovarian cancer, after a mean follow-up of 8.8 years. With the exclusion of the 6 women whose cancer was diagnosed at surgery, prophylactic oophorectomy significantly reduced the risk of coelomic epithelial cancer.
'Synthetic lethality' as a treatment for cancer refers to an event in which tumor cell death results from lethal synergy of 2 otherwise nonlethal events. Fong et al. (2009) used this model to treat breast cancer cells that have homozygous loss of the tumor suppressor genes BRCA1 or BRCA2 with a PARP (173870) inhibitor, resulting in the induction of selective tumor cytotoxicity and the sparing of normal cells. The method aims at inhibiting PARP-mediated single-strand DNA repair in cells with deficient homologous-recombination double-strand DNA repair, which leads to unrepaired DNA breaks, the accumulation of DNA defects, and cell death. Heterozygous BRCA mutant cells retain homologous-recombination function and are not affected by PARP inhibition. In vitro, BRCA1-deficient and BRCA2-deficient cells were up to 1,000-fold more sensitive to PARP inhibition than wildtype cells, and tumor growth inhibition was also demonstrated in BRCA2-deficient xenografts. Fong et al. (2009) reported a phase 1 clinical trial of an orally active PARP inhibitor olaparib (AZD2281 or KU-0059436) in 60 patients with mainly breast or ovarian cancer, including 22 BRCA mutation carriers and 1 who was likely a mutation carrier but declined genetic testing. Durable objective antitumor activity was observed only in confirmed carriers of a BRCA1 or BRCA2 mutation; no objective antitumor responses were observed in patients without known BRCA mutations. Twelve (63%) of 19 BRCA carriers with ovarian, breast, or prostate cancers showed a clinical benefit from treatment with olaparib, with radiologic or tumor-marker responses or meaningful disease stabilization. The drug had an acceptable side-effect profile and did not have the toxic effects commonly associated with conventional chemotherapy. Fong et al. (2009) concluded that PARP inhibition has antitumor activity in BRCA mutation carriers.
Litton et al. (2018) conducted a randomized, open-label, phase 3 trial in which patients with advanced breast cancer and a germline BRCA1/2 mutation were assigned, in a 2:1 ratio, to receive talazoparib (1 mg once daily) or standard single-agent therapy of the physician's choice. Of the 431 patients who underwent randomization, 287 were assigned to receive talazoparib and 144 were assigned to receive standard therapy. Median progression-free survival was significantly longer in the talazoparib group than in the standard-therapy group (8.6 months vs 5.6 months; hazard ratio for disease progression or death, 0.54; 95% CI, 0.41 to 0.71; p less than 0.001). The interim median hazard ratio for death was 0.76 (95% CI, 0.55 to 1.06; p = 0.11; 57% of projected events). The objective response rate was higher in the talazoparib group than in the standard-therapy group (62.6% vs 27.2%; OR, 5.0; 95% CI, 2.9 to 8.8; p less than 0.001). Hematologic grade 3-4 adverse events, primarily anemia, occurred in 55% of the patients who received talazoparib and in 38% of the patients who received standard therapy; nonhematologic grade 3 adverse events were not different in the 2 groups. Patient-reported outcomes favored talazoparib.
Pathogenesis
Using immunohistochemical staining of human breast specimens, Wilson et al. (1999) demonstrated discrete nuclear foci of BRCA1 proteins in benign breast, invasive lobular cancers, and low-grade ductal carcinomas. Conversely, BRCA1 expression was reduced or undetectable in the majority of high-grade, ductal carcinomas, suggesting that absence of BRCA1 may contribute to the pathogenesis of a significant percentage of sporadic breast cancers.
Welcsh and King (2001) reviewed the mutagenicity of BRCA1 and BRCA2 and listed their interacting, modifying, and regulatory proteins, in order to explain why mutations in these 2 genes lead specifically to breast and ovarian cancer.
Germline mutations in the BRCA1 gene are associated with a higher risk of developing basal-like breast cancer. Using immunohistochemical studies, Lim et al. (2009) identified 3 different epithelial cell subsets within mammary tissue: basal stem/progenitor, luminal progenitor, and mature luminal cells. Breast cancer from BRCA1 carriers showed an expanded luminal progenitor population that displayed factor-independent growth in vitro. Gene expression profiling showed that breast tissue heterozygous for a BRCA1 mutation and basal breast tumors were more similar to normal luminal progenitor cells than to any other subset. The findings suggested that an aberrant luminal progenitor population is a target for transformation in BRCA1-associated basal tumors.
Population Genetics
### Ashkenazi Jewish Population
In a study of 37 families with 4 or more cases of breast cancer or breast and ovarian cancer, Friedman et al. (1995) found that 5 families of Ashkenazi Jewish descent carried the BRCA1 185delAG mutation (113705.0003) and shared the same haplotype at 8 polymorphic markers spanning approximately 850 kb. Expressivity of 185delAG in these families varied from early-onset bilateral breast cancer and ovarian cancer to late-onset breast cancer without ovarian cancer. Overall, BRCA1 mutations were detected in 26 of the families: 16 with positive BRCA1 linkage lod scores, 7 with negative lod scores (reflecting multiple sporadic breast cancers), and 3 not tested for linkage.
Following the finding of a 185delAG frameshift mutation in several Ashkenazi Jewish breast/ovarian families, Struewing et al. (1995) determined the frequency of this mutation in 858 Ashkenazim seeking genetic testing for conditions unrelated to cancer, and in 815 reference persons not selected for ethnic origin. They found the 185delAG mutation in 0.9% of Ashkenazim (95% confidence limit, 0.4%-1.8%) and in none of the reference samples. The results suggested that 1 in 100 women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer.
In an editorial, Goldgar and Reilly (1995) raised the possibility that a high frequency of mortality from breast cancer in Nassau County, New York, in the previous 2 decades might be related to the high proportion of Ashkenazim (roughly 16%) in that population; the pathogenetic collaboration of exposure to an environmental pollutant was raised. Ethical, legal, and social issues raised by these findings were also discussed.
Among 5,318 Jewish subjects, Struewing et al. (1997) found 120 carriers of a BRCA1 or BRCA2 mutation. The BRCA1 mutations studied were 185delAG and 5382insC (113705.0018); the BRCA2 mutation studied was 6174delT (600185.0009). By the age of 70, the estimated risk of breast cancer among carriers was 56%; of ovarian cancer, 16%; and of prostate cancer, 16%. There were no significant differences in the risk of breast cancer between carriers of BRCA1 mutations and carriers of BRCA2 mutations, and the incidence of colon cancer among the relatives of carriers was not elevated. They concluded that over 2% of Ashkenazi Jews carried mutations in BRCA1 or BRCA2 that conferred increased risks of breast, ovarian, and prostate cancer. Krainer et al. (1997) found definite BRCA2 mutations in 2 of 73 women with early onset (by age 32) breast cancer, suggesting that BRCA2 is associated with fewer cases than BRCA1 (P = 0.03).
In a series of 268 Ashkenazi Jewish women with breast cancer, regardless of family history or age at onset, Fodor et al. (1998) determined the frequency of the common BRCA1 and BRCA2 mutations: 185delAG, 5382insC, and 6174delT. DNA was analyzed for the 3 mutations by allele-specific oligonucleotide (ASO) hybridization. Eight patients (3%) were heterozygous for the 185delAG mutation, 2 (0.75%) for the 5382insC mutation, and 8 (3%) for the 6174delT mutation. The lifetime risk for breast cancer in Ashkenazi Jewish carriers of the BRCA1 185delAG or BRCA2 6174delT mutations was estimated to be 36%, approximately 3 times the overall risk for the general population (relative risk 2.9). The results differed markedly from previous estimates based on high-risk breast cancer families.
Friedman et al. (1998) pooled results from 4 cancer/genetic centers in Israel to analyze approximately 1,500 breast-ovarian cancer Ashkenazi patients for the presence of double heterozygosity as well as homozygosity for any of these mutations. Although the small number of cases precluded definite conclusions, the results suggested that the phenotypic effects of double heterozygosity for BRCA1 and BRCA2 germline mutations were not cumulative. This was in agreement with the observation that the phenotype of mice that are homozygous knockouts for the BRCA1 and BRCA2 genes is similar to that of mice that were BRCA1 knockouts. This suggests that the BRCA1 mutation is epistatic over the BRCA2 mutation. Two of the double heterozygotes described had had reproductive problems: one with primary sterility and irregular menses and another with premature menopause at the age of 37 years.
In Australia, Bahar et al. (2001) found in Ashkenazi Jews the same high prevalence of 4 founder mutations as found in Ashkenazi Jews in the United States and Israel. The 4 mutations analyzed were 185delAG and 5382insC in BRCA1; 6174delT in BRCA2; and I1307K (611731.0029) in APC.
King et al. (2003) determined the risks of breast and ovarian cancer for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2. They selected 1,008 index cases, regardless of family history of cancer, and carried out molecular analysis across entire families. The lifetime risk of breast cancer among female mutation carriers was 82%, similar to risks in families with many cases. Risks appeared to be increasing with time: breast cancer risk by age 50 years among mutation carriers born before 1940 was 24%, but among those born after 1940 it was 67%. Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset. Easton et al. (2004) and Wacholder et al. (2004) disputed the conclusions of the report by King et al. (2003) estimating a breast cancer risk by age 70 to be 71%, irrespective of mutation. Both groups suggested bias of ascertainment. King (2004) rebutted these comments, suggesting that their penetrance estimates, at least to age 60, were comparable to those of other reported studies and that only the risk above age 70 was higher in their study, which may reflect a small sample size in that age group.
Among 1,098 Ashkenazi Jewish women with breast and/or ovarian cancer, Kadouri et al. (2007) found that those with BRCA1 or BRCA2 founder mutations (329 patients) had a 2.5-fold increased risk of other cancers compared to those without BRCA1/2 mutations. Among specific cancers, BRCA1 carriers had a 3.9-fold increased risk for colon cancer and BRCA2 carriers had an 11.9-fold increased risk for lymphoma, the latter of which may have been related to treatment.
### Other Populations
Johannsson et al. (1996) identified 9 different germline mutations in the BRCA1 gene in 15 of 47 kindreds from southern Sweden, by use of SSCP and heteroduplex analysis of all exons and flanking intron region and by a protein-truncation test for exon 11, followed by direct sequencing. All but one of the mutations were predicted to give rise to premature translation termination and included 7 frameshift insertions or deletions, a nonsense mutation, and a splice acceptor site mutation. The remaining mutation was a missense mutation (cys61-to-gly) in the zinc-binding motif. They also identified 4 novel Swedish founding mutations: deletion of 2595A in 5 families, the C-to-T nonsense mutation of nt1806 in 3 families, the insertion of TGAGA after nt3166 in 3 families, and the deletion of 11 nucleotides after nt1201 in 2 families. Analysis of the intragenic polymorphism D17S855 supported common origins of the mutations. Eleven of the 15 kindreds manifesting BRCA1 mutations were breast-ovarian cancer families, several of which had a predominant ovarian cancer phenotype. Among the 32 families in which no BRCA1 alteration was detected, there was 1 breast-ovarian cancer kindred showing clear linkage to the BRCA1 region and loss of the wildtype chromosome in associated tumors. Other tumor types found in BRCA1 mutation or haplotype carriers included prostatic, pancreas, skin, and lung cancer, a malignant melanoma, an oligodendroglioma, and a carcinosarcoma. In all, 12 of the 16 kindreds manifesting BRCA1 mutation or linkage contained ovarian cancer, as compared with only 6 of the remaining 31 families.
Gayther et al. (1997) found that the 5382insC and 4153delA (113705.0030) mutations in the BRCA1 gene may account for 86% of cases of familial ovarian cancer in Russia.
Hamann et al. (1997) studied 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. They identified 4 germline mutations in 3 breast cancer families and in 1 breast/ovarian cancer family. One of these, a missense mutation, was also found in 2.8% of the general population, suggesting that this was not disease associated. Hamann et al. (1997) concluded that the low incidence of BRCA1 germline mutations in these families suggests the involvement of other susceptibility genes.
Szabo and King (1997) collated information on the population genetics of BRCA1 and BRCA2 in populations from many countries of Europe as well as the U.S., Canada, and Japan.
Tonin et al. (1998) noted that 4 mutations in BRCA1 and 4 mutations in BRCA2 had been identified in French Canadian breast cancer and breast/ovarian cancer families from Quebec. To identify founder effects, they examined independently ascertained French Canadian cancer families for the distribution of these 8 mutations. Mutations were found in 41 of 97 families. Six of 8 mutations were observed at least twice. The 4446C-T mutation (arg1443 to ter; 113705.0016) was the most common mutation found, followed by the BRCA2 8765delAG mutation (600185.0012). Together, these mutations were found in 28 of 41 families identified as having the mutation. The odds of detection of any of the 4 BRCA1 mutations was 18.7 times greater if one or more cases of ovarian cancer were also present in the family. The odds of detection of any of the 4 BRCA2 mutations was 5.3 times greater if there were at least 5 cases of breast cancer in the family. Interestingly, the presence of a breast cancer case less than 36 years of age was strongly predictive of the presence of any of the 8 mutations screened. Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population. The identification of common BRCA1 and BRCA2 mutations could facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families.
Gorski et al. (2000) studied 66 Polish families in each of which at least 3 related females had breast or ovarian cancer and at least 1 of these 3 had been diagnosed with cancer before the age of 50 years. A total of 26 families had both breast and ovarian cancers, 4 had ovarian cancers only, and 36 families had breast cancers only. Using SSCP followed by direct sequencing of observed variants, they screened the entire coding region of BRCA1 and BRCA2 for germline mutations. Mutations were found in 35 (53%) of the 66 families. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all 4 families with ovarian cancer only, and 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; 5 of these occurred in 2 or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Gorski et al. (2000) found that 3 BRCA1 abnormalities, 5382insC, cys61 to gly (113705.0002), and 4153delA, accounted for 51%, 20%, and 11% of the identified mutations, respectively.
De Los Rios et al. (2001) reported findings in Canadian families suggesting that most of the mutation-carrying families of Polish ancestry have the BRCA1 5382insC mutation.
Sarantaus et al. (2001) studied 233 unselected Finnish ovarian carcinoma patients treated at the Helsinki University Central Hospital during the years 1989 to 1998. The patients were screened for 12 BRCA1 and 8 BRCA2 mutations identified previously in the Finnish population. Germline mutations of BRCA1/BRCA2 were detected in 13 of the patients (11 in BRCA1 and 2 in BRCA2) and 7 recurrent founder mutations accounted for 12 of the 13 mutations detected. All mutation-positive patients but one had serous or poorly differentiated carcinoma. The presence of breast and ovarian cancer in the same woman and/or early onset (under 50 years of age) breast cancer was characteristic of the majority (77%) of the mutation carriers.
The population of Pakistan has been reported to have the highest rate of breast cancer of any Asian population (excluding Jews in Israel) and one of the highest rates of ovarian cancer worldwide. To explore the contribution of genetic factors to these high rates, Liede et al. (2002) conducted a case-control study of 341 case subjects with breast cancer, 120 case subjects with ovarian cancer, and 200 female control subjects from 2 major cities of Pakistan (Karachi and Lahore). The prevalence of BRCA1 or BRCA2 mutations among case subjects with breast cancer was 6.7%, and that among case subjects with ovarian cancer was 15.8%. Mutations of the BRCA1 gene accounted for 84% of the mutations among case subjects with ovarian cancer and 65% of mutations among case subjects with breast cancer. Most of the detected mutations were unique to Pakistan. Five BRCA1 mutations and 1 BRCA2 mutation were found in multiple case subjects and may represent candidate founder mutations. The penetrance of deleterious mutations in BRCA1 and BRCA2 was comparable to that of Western populations. The cumulative risk of cancer to age 85 years in female first-degree relatives of BRCA1 mutation-positive case subjects was 48%, and it was 37% for first-degree relatives of the BRCA2 mutation-positive case subjects. A higher proportion of case subjects with breast cancer than of control subjects were the progeny of first-cousin marriages (odds ratio = 2.1). The effects of consanguinity were significant for case subjects with early-onset breast cancer (age less than 40 years) (odds ratio = 2.7) and case subjects with ovarian cancer (odds ratio = 2.4). These results suggested that recessively inherited genes may contribute to breast and ovarian cancer risk in Pakistan.
Diez et al. (2003) screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germline mutations in the BRCA1 and BRCA2 genes. They identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 distinct mutations observed, 11 were novel and 12 had been reported only in Spanish families (41.5%); the prevalence of mutations in this set of families was 26.3%. The percentage was higher in families with breast and ovarian cancer (52.1%). Of the families with male breast cancer cases, 59.1% presented mutations in the BRCA2 gene. They found a higher frequency of ovarian cancer associated with mutations localized in the 5-prime end of the BRCA1 gene, but there was no association between the prevalence of this type of cancer and mutations situated in the OCCR of exon 11 of the BRCA2 gene. Five mutations accounted for 46.6% of BRCA1 detected mutations, whereas 4 mutations accounted for 56.6% of the BRCA2 mutations. The BRCA1 330A-G substitution (113705.0034) had a Galician origin (northwest Spain).
Hartikainen et al. (2007) identified 5 different mutations in the BRCA1 or BRCA2 genes in 7 (19.4%) of 36 families with breast/ovarian cancer from eastern Finland.
Hall et al. (2009) examined a comprehensive database of BRCA1/BRCA2 testing in the United States compiled over about 10 years (1996 to 2006). Full-sequence testing of the genes was performed in 46,276 women who met eligibility criteria. The largest ethnic subgroup was of Western or Central European ancestry (87.1%), followed by Latin American (4.2%), African (3.8%), Asian (2.6%), Native American (1.3%), and Middle Eastern (1.1%) ancestry. Individuals of Ashkenazi Jewish origin were excluded. Women of non-European descent were younger (mean age of 45.9 years) than European women (mean age of 50 years) at age of testing. Mutations were identified in 12.5% of women overall, but those of African and Latin American ancestries had significantly higher prevalences of deleterious BRCA1 and BRCA2 mutations (15.6% and 14.8%, respectively) compared with women of Western European ancestry (12.1%), primarily because of an increased prevalence of BRCA1 mutations in the former 2 groups. Overall, BRCA1 mutations were more common than BRCA2 mutations for every ethnicity except Asian, in which the frequency was equal (about 6.3% for each gene). The most common recurrent mutations per group were 5385insC (also known as 5382insC; 113705.0018) in BRCA1, accounting for 5.2% of all mutations among Western Europeans and 14.9% of all mutations among Central Europeans; 943ins10 (113705.0029) in BRCA1, accounting for 10% of all mutations among Africans; and 187delAG (also known as 185delAG; 113705.0003) in BRCA1, accounting for 6.7% of all mutations among Native Americans, 12.2% of all mutations among Latin Americans, and 15.2% of all mutations among Middle Eastern women.
History
### Exclusion Studies
Simard et al. (1993) were able to exclude the RARA gene (180240) as a candidate disease gene by genetic recombination. Although BRCA1 and the gene for estradiol 17-beta-hydroxysteroid dehydrogenase II (HSD17B2; 109685) map to a 6-cM interval and no recombination was observed between the 2 genes, direct sequencing of overlapping PCR products containing the entire EDH17B2 gene in 4 unrelated affected woman did not uncover any pathogenic sequence variations, thus excluding the EDH17B2 gene.
Kelsell et al. (1993) did not identify pathogenic variations in the EDH17B1 or EDH17B2 gene in 4 affected members of a family with breast cancer.
INHERITANCE \- Autosomal dominant \- Multifactorial NEOPLASIA \- Breast cancer \- Ovarian cancer MISCELLANEOUS \- Mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age \- Lifetime risk of breast cancer in mutation carriers is 80 to 90% \- Lifetime risk of ovarian cancer in mutation carriers is 40 to 50% \- Increased risk of bilateral breast cancer MOLECULAR BASIS \- Susceptibility conferred by mutation in the breast cancer 1 gene (BRCA1, 113705.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
c0677776
| 28,179 |
omim
|
https://www.omim.org/entry/604370
| 2019-09-22T16:12:06 |
{"mesh": ["D061325"], "omim": ["604370"], "orphanet": ["145", "227535"], "genereviews": ["NBK1247"]}
|
Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ullrich congenital muscular dystrophy
|
c0410179
| 28,180 |
gard
|
https://rarediseases.info.nih.gov/diseases/4769/ullrich-congenital-muscular-dystrophy
| 2021-01-18T17:57:15 |
{"mesh": ["C537521"], "omim": ["254090"], "umls": ["C0410179"], "orphanet": ["75840"], "synonyms": ["Ullrich disease", "Ullrich scleroatonic muscular dystrophy", "UCMD", "Late onset scleroatonic familial myopathy (subtype)", "Scleroatonic muscular dystrophy"]}
|
Winter et al. (1987) described 2 sibs of opposite sex, the offspring of consanguineous Pakistani parents, with an apparently 'new' syndrome. The main features were short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. The second sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance was presumably autosomal recessive. The first-born sib died at age 18 months from respiratory failure. The pregnancy was terminated in the case of the second sib.
Resp \- Respiratory failure Neuro \- Communicating hydrocephalus \- Developmental delay Limbs \- Mild limb shortening Thorax \- Thoracic dysplasia \- Short ribs \- Narrow chest Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME
|
c1848864
| 28,181 |
omim
|
https://www.omim.org/entry/273730
| 2019-09-22T16:21:46 |
{"mesh": ["C564774"], "omim": ["273730"], "orphanet": ["1861"]}
|
Range of neurodevelopmental disorders
Autism spectrum
Other namesAutism spectrum disorder, autistic spectrum disorder,[1] autism spectrum conditions[2]
Repetitively stacking or lining up objects is associated with the autism spectrum
SpecialtyClinical psychology, psychiatry, pediatrics, occupational medicine
SymptomsProblems with communication, social interaction, restricted interests, repetitive behavior[3]
ComplicationsSocial isolation, employment problems, family stress, bullying, self-harm,[4] suicide[5]
Usual onsetBy the age of 3 years[6]
DurationLifelong or long-term[7]
CausesUncertain[7]
Risk factorsAdvanced parental age, exposure to valproate during pregnancy, low birth weight[3]
Diagnostic methodBased on symptoms[7]
Differential diagnosisIntellectual disability, Rett syndrome, ADHD, selective mutism, childhood-onset schizophrenia[3]
TreatmentBehavioral therapy,[8] psychotropic medication[9]
Frequency1% of people[3] (62.2 million 2015)[10]
The autism spectrum encompasses a range of neurodevelopmental conditions, including autism and Asperger syndrome, generally known as autism spectrum disorders (ASD). Individuals on the autistic spectrum experience difficulties with social communication and interaction and also exhibit restricted, repetitive patterns of behavior, interests, or activities. Symptoms are typically recognized between one and two years of age in boys.[3] However, a lot of children are not finally diagnosed until they are older. Final diagnosis could still be given as an adolescent or even as an adult.[11] The term "spectrum" refers to the variation in the type and severity of symptoms.[12] Those in the mild range may function independently, while those with moderate to severe symptoms may require more substantial support in their daily lives.[3][13] Long-term problems may include difficulties in performing daily tasks, creating and keeping relationships, and maintaining a job.[14]
The cause of autism spectrum conditions is uncertain.[7] Risk factors include having an older parent, a family history of autism, and certain genetic conditions.[7] It is estimated that between 64% and 91% of risk is due to family history.[15] Diagnosis is based on symptoms.[7] In 2013, the Diagnostic and Statistical Manual of Mental Disorders version 5 (DSM-5) replaced the previous subgroups of autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), and childhood disintegrative disorder with the single term "autism spectrum disorder".[16][12]
Treatment efforts are generally individualized and can include behavioural therapy and the teaching of coping skills.[7] Medications may be used to try to help improve symptoms.[7] Evidence to support the use of medications, however, is not very strong.[9]
An estimated 1% of the population (62.2 million globally) are on the autism spectrum as of 2015[update].[3][10] In the United States it is estimated to affect more than 2% of children (about 1.5 million) as of 2016.[17] Males are diagnosed four times more often than females.[14][18] The autism rights movement promotes the concept of neurodiversity, which views autism as a natural variation of the brain rather than a disorder to be cured.[19]
## Contents
* 1 Classification
* 1.1 DSM IV (2000)
* 1.2 DSM V (2013)
* 2 Signs and symptoms
* 2.1 Developmental course
* 2.2 Social skills
* 2.3 Communication skills
* 2.4 Behavioral characteristics
* 2.4.1 Self-injury
* 3 Causes
* 3.1 Genetics
* 3.2 Early life
* 3.3 Disproven vaccine hypothesis
* 4 Pathophysiology
* 4.1 Brain connectivity
* 4.2 Neuropathology
* 4.3 Gut-immune-brain axis
* 4.4 Mirror neuron system
* 4.5 "Social brain" interconnectivity
* 4.6 Temporal lobe
* 4.7 Mitochondria
* 4.8 Serotonin
* 5 Diagnosis
* 5.1 Screening
* 5.2 Misdiagnosis
* 5.3 Prognosis
* 5.4 Comorbidity
* 6 Management
* 6.1 Non-pharmacological interventions
* 6.2 Pharmacological interventions
* 7 Epidemiology
* 7.1 United States
* 8 History
* 9 Society and culture
* 9.1 Caregivers
* 9.2 Autism rights movement
* 9.3 Academic performance
* 9.4 Employment
* 10 See also
* 11 References
* 12 External links
## Classification[edit]
Further information: Autism § Classification
DSM-IV diagnoses that fall under the umbrella of autism spectrum disorder in DSM-V
### DSM IV (2000)[edit]
Autism forms the core of the autism spectrum disorders. Asperger syndrome is closest to autism in signs and likely causes;[20] unlike autism, people with Asperger syndrome have no significant delay in language development or cognitive development, according to the older DSM-IV criteria.[21] PDD-NOS is diagnosed when the criteria are not met for a more specific disorder. Some sources also include Rett syndrome and childhood disintegrative disorder, which share several signs with autism but may have unrelated causes; other sources differentiate them from ASD, but group all of the above conditions into the pervasive developmental disorders.[20][22]
Autism, Asperger syndrome, and PDD-NOS are sometimes called the autistic disorders instead of ASD,[23] whereas autism itself is often called autistic disorder, childhood autism, or infantile autism.[24] Although the older term pervasive developmental disorder and the newer term autism spectrum disorder largely or entirely overlap,[22] the earlier was intended to describe a specific set of diagnostic labels, whereas the latter refers to a postulated spectrum disorder linking various conditions.[25] ASD is a subset of the broader autism phenotype (BAP), which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact.[24]
### DSM V (2013)[edit]
A revision to autism spectrum disorder (ASD) was presented in the Diagnostic and Statistical Manual of Mental Disorders version 5 (DSM-5), released in May 2013.[26] The new diagnosis encompasses previous diagnoses of autistic disorder, Asperger syndrome, childhood disintegrative disorder, and PDD-NOS. Slightly different diagnostic definitions are used in other countries. Rather than categorizing these diagnoses, the DSM-5 has adopted a dimensional approach to diagnosing disorders that fall underneath the autism spectrum umbrella. Some have proposed that individuals on the autism spectrum may be better represented as a single diagnostic category. Within this category, the DSM-5 has proposed a framework of differentiating each individual by dimensions of severity, as well as associated features (i.e., known genetic disorders, and intellectual disability).
Another change to the DSM includes collapsing social and communication deficits into one domain.[27] Thus, an individual with an ASD diagnosis will be described in terms of severity of social communication symptoms, severity of fixated or restricted behaviors or interests, hyper- or hyposensitivity to sensory stimuli, and associated features.
The restricting of onset age has also been loosened from 3 years of age to "early developmental period", with a note that symptoms may manifest later when social demands exceed capabilities.[28]
## Signs and symptoms[edit]
Autism spectrum disorder (ASD) is characterized by persistent challenges with social communication and social interaction, and by the presence of restricted, repetitive patterns of behavior, interests, or activities.[29] These symptoms begin in early childhood, and can impact function.[30] There is also a unique disorder called savant syndrome that can co-occur with autism.[31] As many as one in 10 children with autism and savant syndrome can have outstanding skills in music, art, and mathematics.[31] Self-injurious behavior (SIB) is more common and has been found to correlate with intellectual disability.[32][4] Approximately 50% of those with ASD take part in some type of SIB (head-banging, self-biting).[33]
Other characteristics of ASD include restricted and repetitive behaviors (RRBs). These include a range of gestures and behaviors as defined in the Diagnostic and Statistic Manual for Mental Disorders.[34]
Asperger syndrome was distinguished from autism in the DSM-IV by the lack of delay or deviance in early language development.[35] Additionally, individuals diagnosed with Asperger syndrome did not have significant cognitive delays.[36] PDD-NOS was considered "subthreshold autism" and "atypical autism" because it was often characterized by milder symptoms of autism or symptoms in only one domain (such as social difficulties).[37] The DSM-5 eliminated four separate diagnoses—Asperger syndrome; pervasive developmental disorder, not otherwise specified (PDD-NOS); childhood disintegrative disorder; and autistic disorder—and combined them under the diagnosis of autism spectrum disorder.[30]
### Developmental course[edit]
Most parents report that the onset of autism symptoms occur within the first year of life.[38][39] There are two possible developmental courses of autism spectrum disorder. One course of development is more gradual in nature, in which parents report concerns in development over the first two years of life and diagnosis is made around 3–4 years of age. Some of the early signs of ASDs in this course include decreased looking at faces, failure to turn when name is called, failure to show interests by showing or pointing, and delayed imaginative play.[40]
A second course of development is characterized by normal or near-normal development in the first 15 months to 3 years before onset of regression or loss of skills. Regression may occur in a variety of domains, including communication, social, cognitive, and self-help skills; however, the most common regression is loss of language.[41][42] Childhood disintegrative disorder, a DSM-IV diagnosis now included under ASD in DSM-V, is characterized by regression after normal development in the first 3 to 4 years of life.[43]
There continues to be a debate over the differential outcomes based on these two developmental courses. Some studies suggest that regression is associated with poorer outcomes and others report no differences between those with early gradual onset and those who experience a regression period.[44] While there is conflicting evidence surrounding language outcomes in ASD, some studies have shown that cognitive and language abilities at age 2 1⁄2 may help predict language proficiency and production after age 5.[45] Overall, the literature stresses the importance of early intervention in achieving positive longitudinal outcomes.[46]
### Social skills[edit]
Impairments in social skills present many challenges for individuals with ASD. Deficits in social skills may lead to problems with friendships, romantic relationships, daily living, and vocational success.[47] One study that examined the outcomes of adults with ASD found that, compared to the general population, those with ASD were less likely to be married, but it is unclear whether this outcome was due to deficits in social skills or intellectual impairment.[48]
Prior to 2013, deficits in social function and communication were considered two separate symptoms of autism.[49] The current criteria for autism diagnosis require individuals to have deficits in three social skills: social-emotional reciprocity, nonverbal communication, and developing and sustaining relationships.[3]
Some of the symptoms related to social reciprocity include:
* Lack of mutual sharing of interests: many children with autism prefer not to play or interact with others.
* Lack of awareness or understanding of other people's thoughts or feelings: a child may get too close to peers without noticing that this makes them uncomfortable.
* Atypical behaviors for attention: a child may push a peer to gain attention before starting a conversation.[50]
People with autism spectrum usually display atypical nonverbal behaviors:
* Poor eye contact: a child with autism may fail to make eye contact when called by name, or they may avoid making eye contact with an observer. Aversion of gaze can also be seen in anxiety disorders, however poor eye contact in autistic children is not due to shyness or anxiety; rather, it is overall diminished in quantity.
* Facial expressions: they often do not know how to recognize emotions from others' facial expressions, or they may not respond with the appropriate facial expressions.
* Unusual speech: at least half of children with autism speak in a flat, monotone voice or they may not recognize the need to control the volume of their voice in different social settings. For example, they may speak loudly in libraries or movie theaters.[51]
### Communication skills[edit]
Communication deficits are due to problems with social-emotional skills like joint attention and social reciprocity. Difficulties with nonverbal communication skills such as poor eye contact, and impaired use of proper facial expressions and gestures are common.[52][53] Some of the linguistic behaviors in individuals with autism include repetitive or rigid language, and restricted interests in conversation. For example, a child might repeat words or insist on always talking about the same subject.[50] ASD can present with impairments in pragmatic communication skills, such as difficulty initiating a conversation or failure to consider the interests of the listener to sustain a conversation.[50] Language impairment is also common in children with autism, but it is not necessary for the diagnosis.[50] Many children with ASD develop language skills at an uneven pace where they easily acquire some aspects of communication, while never fully developing others.[53] In some cases, individuals remain completely nonverbal throughout their lives, although the accompanying levels of literacy and nonverbal communication skills vary.
They may not pick up on body language or social cues such as eye contact and facial expressions if they provide more information than the person can process at that time. Similarly, they have trouble recognizing subtle expressions of emotion and identifying what various emotions mean for the conversation. They struggle with understanding the context and subtext of conversational or printed situations, and have trouble forming resulting conclusions about the content. This also results in a lack of social awareness and atypical language expression.[54] How emotional processing and facial expressions differ between those on the autism spectrum, and others is not clear, but emotions are processed differently between different partners.[55]
It is also common for individuals with ASD to communicate strong interest in a specific topic, speaking in lesson-like monologues about their passion instead of enabling reciprocal communication with whomever they are speaking to.[53] What looks like self-involvement or indifference toward others stems from a struggle to recognize or remember that other people have their own personalities, perspectives, and interests.[54] The ability to be focused in on one topic in communication is known as monotropism, and can be compared to "tunnel vision" in the mind for those individuals with ASD.[56] Language expression by those on the autism spectrum is often characterized by repetitive and rigid language. Often children with ASD repeat certain words, numbers, or phrases during an interaction, words unrelated to the topic of conversation. They can also exhibit a condition called echolalia, in which they respond to a question by repeating the inquiry instead of answering.[53]
### Behavioral characteristics[edit]
Autism spectrum disorders include a wide variety of characteristics. Some of these include behavioral characteristics which widely range from slow development of social and learning skills to difficulties creating connections with other people. They may develop these difficulties of creating connections due to anxiety or depression, which people with autism are more likely to experience, and as a result isolate themselves.[57] Other behavioral characteristics include abnormal responses to sensations including sights, sounds, touch, and smell, and problems keeping a consistent speech rhythm. The latter problem influences an individual's social skills, leading to potential problems in how they are understood by communication partners. Behavioral characteristics displayed by those with autism spectrum disorder typically influence development, language, and social competence. Behavioral characteristics of those with autism spectrum disorder can be observed as perceptual disturbances, disturbances of development rate, relating, speech and language, and motility.[58]
The second core symptom of Autism spectrum is a pattern of restricted and repetitive behaviors, activities, and interests. In order to be diagnosed with ASD, a child must have at least two of the following behaviors:[3][29]
* Stereotyped behaviors – Most children with autism perform repetitive behaviors such as rocking, hand flapping, finger flicking, head banging, or repeating phrases or sounds.[50] These behaviors may occur constantly or only when the child gets stressed, anxious or upset.
* Resistance to change – Children with autism spectrum also tend to have routines and rituals that they must follow, like eating certain foods in a specific order, or taking the same path to school every day.[50] The child may have a meltdown if there is any change or disruption to his routine.
* Restricted interests – Children may become excessively interested in a particular thing or topic, and devote all their attention to it. For example, young children might completely focus on things that spin and ignore everything else. Older children might try to learn everything about a single topic, such as the weather or sports, and talk about it constantly.[50]
* Sensory Processing Disorder – Many people with Autism have difficulty processing complex combinations of emotional and sensory stimuli. Their inability to process this information in a timely manner produces an information pile up which will trigger a stress reaction. They must be able to escape the environment causing this information pile up or their stress reaction may escalate to a severe anxiety reaction or panic attack. This will ultimately result in an autistic meltdown.
* Oversensitivity – Many people with autism are overly sensitive to loud sounds, bright lights, strong smells, or being touched.
#### Self-injury[edit]
Self-injurious behaviors (SIB) are common in ASD and include head-banging, self-cutting, self-biting, and hair-pulling.[33] These behaviors can result in serious injury or death.[33] Following are theories about the cause of self-injurious behavior in autistic individuals:[4]
* Frequency and/or continuation of self-injurious behavior can be influenced by environmental factors e.g. reward in return for halting self-injurious behavior. However this theory is not applicable to younger children with autism. There is some evidence that frequency of self-injurious behavior can be reduced by removing or modifying environmental factors that reinforce this behavior.
* Higher rates of self-injury are also noted in socially isolated individuals with autism
* Self-injury could be a response to modulate pain perception when chronic pain or other health problems that cause pain are present
* An abnormal basal ganglia connectivity may predispose to self-injurious behavior
## Causes[edit]
Main article: Causes of autism
While specific causes of autism spectrum disorders have yet to be found, many risk factors identified in the research literature may contribute to their development. These risk factors include genetics, prenatal and perinatal factors, neuroanatomical abnormalities, and environmental factors. It is possible to identify general risk factors, but much more difficult to pinpoint specific factors. Given the current state of knowledge, prediction can only be of a global nature and therefore requires the use of general markers.[59]
### Genetics[edit]
Hundreds of different genes are implicated in susceptibility to developing autism, most of which alter the brain structure in a similar way
As of 2018, it appeared that somewhere between 74% and 93% of ASD risk is heritable.[29] After an older child is diagnosed with ASD, 7–20% of subsequent children are likely to be as well.[29] If parents have a child with ASD they have a 2% to 8% chance of having a second child with ASD. If the child with ASD is an identical twin the other will be affected 36 to 95 percent of the time. If they are fraternal twins the other will only be affected up to 31 percent of the time.[60]
As of 2018, understanding of genetic risk factors had shifted from a focus on a few alleles to an understanding that genetic involvement in ASD is probably diffuse, depending on a large number of variants, some of which are common and have a small effect, and some of which are rare and have a large effect. The most common gene disrupted with large effect rare variants appeared to be CHD8, but less than 0.5% of people with ASD have such a mutation. Some ASD is associated with clearly genetic conditions, like fragile X syndrome; however only around 2% of people with ASD have fragile X.[29]
Current research suggests that genes that increase susceptibility to ASD are ones that control protein synthesis in neuronal cells in response to cell needs, activity and adhesion of neuronal cells, synapse formation and remodeling, and excitatory to inhibitory neurotransmitter balance. Therefore despite up to 1000 different genes thought to contribute to increased risk of ASD, all of them eventually affect normal neural development and connectivity between different functional areas of the brain in a similar manner that is characteristic of an ASD brain. Some of these genes are known to modulate production of the GABA neurotransmitter which is the main inhibitory neurotransmitter in the nervous system. These GABA-related genes are underexpressed in an ASD brain. On the other hand, genes controlling expression of glial and immune cells in the brain e.g. astrocytes and microglia, respectively, are overexpressed which correlates with increased number of glial and immune cells found in postmortem ASD brains. Some genes under investigation in ASD pathophysiology are those that affect the mTOR signaling pathway which supports cell growth and survival.[61]
All these genetic variants contribute to the development of the autistic spectrum, however, it can not be guaranteed that they are determinants for the development.[62]
### Early life[edit]
Several prenatal and perinatal complications have been reported as possible risk factors for autism. These risk factors include maternal gestational diabetes, maternal and paternal age over 30, bleeding after first trimester, use of prescription medication (e.g. valproate) during pregnancy, and meconium in the amniotic fluid. While research is not conclusive on the relation of these factors to autism, each of these factors has been identified more frequently in children with autism, compared to their siblings who do not have autism, and other typically developing youth.[63] While it is unclear if any single factors during the prenatal phase affect the risk of autism,[64] complications during pregnancy may be a risk.[64]
Low vitamin D levels in early development has been hypothesized as a risk factor for autism.[65]
### Disproven vaccine hypothesis[edit]
Main article: MMR vaccine and autism
In 1998 Andrew Wakefield led a fraudulent study that suggested that the MMR vaccine may cause autism.[66][67][68][69][70] This conjecture suggested that autism results from brain damage caused either by the MMR vaccine itself, or by thimerosal, a vaccine preservative.[71] No convincing scientific evidence supports these claims, and further evidence continues to refute them, including the observation that the rate of autism continues to climb despite elimination of thimerosal from routine childhood vaccines.[72] A 2014 meta-analysis examined ten major studies on autism and vaccines involving 1.25 million children worldwide; it concluded that neither the MMR vaccine, which has never contained thimerosal,[73] nor the vaccine components thimerosal or mercury, lead to the development of ASDs.[74]
## Pathophysiology[edit]
Main article: Autism § Mechanism
In general, neuroanatomical studies support the concept that autism may involve a combination of brain enlargement in some areas and reduction in others.[75] These studies suggest that autism may be caused by abnormal neuronal growth and pruning during the early stages of prenatal and postnatal brain development, leaving some areas of the brain with too many neurons and other areas with too few neurons.[76] Some research has reported an overall brain enlargement in autism, while others suggest abnormalities in several areas of the brain, including the frontal lobe, the mirror neuron system, the limbic system, the temporal lobe, and the corpus callosum.[77][78]
In functional neuroimaging studies, when performing theory of mind and facial emotion response tasks, the median person on the autism spectrum exhibits less activation in the primary and secondary somatosensory cortices of the brain than the median member of a properly sampled control population. This finding coincides with reports demonstrating abnormal patterns of cortical thickness and grey matter volume in those regions of autistic persons' brains.[79]
### Brain connectivity[edit]
Brains of autistic individuals have been observed to have abnormal connectivity and the degree of these abnormalities directly correlates with the severity of autism. Following are some observed abnormal connectivity patterns in autistic individuals:[80][61]
* Decreased connectivity between different specialized regions of the brain (e.g. lower neuron density in corpus callosum) and relative overconnectivity within specialized regions of the brain by adulthood. Connectivity between different regions of the brain ('long-range' connectivity) is important for integration and global processing of information and comparing incoming sensory information with the existing model of the world within the brain. Connections within each specialized regions ('short-range' connections) are important for processing individual details and modifying the existing model of the world within the brain to more closely reflect incoming sensory information. In infancy, children at high risk for autism that were later diagnosed with autism were observed to have abnormally high long-range connectivity which then decreased through childhood to eventual long-range underconnectivity by adulthood.[80]
* Abnormal preferential processing of information by the left hemisphere of the brain vs. preferential processing of information by right hemisphere in neurotypical individuals. The left hemisphere is associated with processing information related to details whereas the right hemisphere is associated with processing information in a more global and integrated sense that is essential for pattern recognition. For example, visual information like face recognition is normally processed by the right hemisphere which tends to integrate all information from an incoming sensory signal, whereas an ASD brain preferentially processes visual information in the left hemisphere where information tends to be processed for local details of the face rather than the overall configuration of the face. This left lateralization negatively impacts both facial recognition and spatial skills.[80]
* Increased functional connectivity within the left hemisphere which directly correlates with severity of autism. This observation also supports preferential processing of details of individual components of sensory information over global processing of sensory information in an ASD brain.[80]
* Prominent abnormal connectivity in the frontal and occipital regions. In autistic individuals low connectivity in the frontal cortex was observed from infancy through adulthood. This is in contrast to long-range connectivity which is high in infancy and low in adulthood in ASD.[80] Abnormal neural organization is also observed in the Broca's area which is important for speech production.[61]
### Neuropathology[edit]
Listed below are some characteristic findings in ASD brains on molecular and cellular levels regardless of the specific genetic variation or mutation contributing to autism in a particular individual:
* Limbic system with smaller neurons that are more densely packed together. Given that the limbic system is the main center of emotions and memory in the human brain, this observation may explain social impairment in ASD.[61]
* Fewer and smaller Purkinje neurons in the cerebellum. New research suggest a role of the cerebellum in emotional processing and language.[61]
* Increased number of astrocytes and microglia in the cerebral cortex. These cells provide metabolic and functional support to neurons and act as immune cells in the nervous system, respectively.[61]
* Increased brain size in early childhood causing macrocephaly in 15–20% of ASD individuals. The brain size however normalizes by mid-childhood. This variation in brain size in not uniform in the ASD brain with some parts like the frontal and temporal lobes being larger, some like the parietal and occipital lobes being normal sized, and some like cerebellar vermis, corpus callosum, and basal ganglia being smaller than neurotypical individuals.[61]
* Cell-adhesion molecules (CAMs) that are essential to formation and maintenance of connections between neurons, neuroligins found on postsynaptic neurons that bind presynaptic CAMs, and proteins that anchor CAMs to neurons are all found to be mutated in ASD.[61]
### Gut-immune-brain axis[edit]
Role of gut-immune-brain axis in autism; BBB – blood brain barrier
Up to 70% of autistic individuals have GI related problems like reflux, diarrhea, constipation, inflammatory bowel disease, and food allergies. The severity of GI symptoms is directly proportional to the severity of autism. It has also been shown that the makeup of gut bacteria in ASD patients is different than that of neurotypical individuals. This has raised the question of influence of gut bacteria on ASD development via inducing an inflammatory state.[81]
Listed below are some research findings on the influence of gut bacteria and abnormal immune responses on brain development:[81]
* Some studies on rodents have shown gut bacteria influencing emotional functions and neurotransmitter balance in the brain, both of which are impacted in ASD.[61]
* The immune system is thought to be the intermediary that modulates the influence of gut bacteria on the brain. Some ASD individuals have a dysfunctional immune system with higher numbers of some types of immune cells, biochemical messengers and modulators, and autoimmune antibodies. Increased inflammatory biomarkers correlate with increased severity of ASD symptoms and there is evidence to support a state of chronic brain inflammation in ASD.[81]
* More pronounced inflammatory responses to bacteria were found in ASD individuals with an abnormal gut microbiota. Additionally IgA antibodies that are central to gut immunity were also found in elevated levels in ASD populations. Some of these antibodies may also attack proteins that support myelination of the brain, a process that is important for robust transmission of neural signal in many nerves.[81]
* Activation of the maternal immune system during pregnancy (by gut bacteria, bacterial toxins, an infection, or non-infectious causes) and gut bacteria in the mother that induce increased levels of Th17, a proinflammatory immune cell, have been associated with an increased risk of autism. Some maternal IgG antibodies that cross the placenta to provide passive immunity to the fetus can also attack the fetal brain. One study found that 12% of mothers of autistic children have IgG that are active against the fetal brain.[81]
* Inflammation within the gut itself does not directly affect brain development. Rather it is the inflammation within the brain promoted by inflammatory responses to harmful gut microbiome that impact brain development.[81]
* Proinflammatory biomessengers IFN-γ, IFN-α, TNF-α, IL-6 and IL-17 have been shown to promote autistic behaviors in animal models. Giving anti-IL-6 and anti-IL-17 along with IL-6 and IL-17, respectively, have been shown to negate this effect in the same animal models.[81]
* Some gut proteins and microbial products can cross the blood–brain barrier (BBB) and activate mast cells in the brain. Mast cells release proinflammatory factors and histamine which further increase BBB permeability and help set up a cycle of chronic inflammation.[81]
### Mirror neuron system[edit]
Further information: Mirror neuron § Autism
The mirror neuron system (MNS) consists of a network of brain areas that have been associated with empathy processes in humans.[82] In humans, the MNS has been identified in the inferior frontal gyrus (IFG) and the inferior parietal lobule (IPL) and is thought to be activated during imitation or observation of behaviors.[83] The connection between mirror neuron dysfunction and autism is tentative, and it remains to be seen how mirror neurons may be related to many of the important characteristics of autism.[84][85]
### "Social brain" interconnectivity[edit]
A number of discrete brain regions and networks among regions that are involved in dealing with other people have been discussed together under the rubric of the "social brain". As of 2012[update], there is a consensus that autism spectrum is likely related to problems with interconnectivity among these regions and networks, rather than problems with any specific region or network.[86]
### Temporal lobe[edit]
Functions of the temporal lobe are related to many of the deficits observed in individuals with ASDs, such as receptive language, social cognition, joint attention, action observation, and empathy. The temporal lobe also contains the superior temporal sulcus (STS) and the fusiform face area (FFA), which may mediate facial processing. It has been argued that dysfunction in the STS underlies the social deficits that characterize autism. Compared to typically developing individuals, one fMRI study found that individuals with high-functioning autism had reduced activity in the FFA when viewing pictures of faces.[87]
### Mitochondria[edit]
This article needs to be updated. Please update this article to reflect recent events or newly available information. (July 2020)
ASD could be linked to mitochondrial disease (MD), a basic cellular abnormality with the potential to cause disturbances in a wide range of body systems.[88] A 2012 meta-analysis study, as well as other population studies have shown that approximately 5% of children with ASD meet the criteria for classical MD.[89] It is unclear why the MD occurs considering that only 23% of children with both ASD and MD present with mitochondrial DNA (mtDNA) abnormalities.[89]
### Serotonin[edit]
Serotonin is a major neurotransmitter in the nervous system and contributes to formation of new neurons (neurogenesis), formation of new connections between neurons (synaptogenesis), remodeling of synapses, and survival and migration of neurons, processes that are necessary for a developing brain and some also necessary for learning in the adult brain. 45% of ASD individuals have been found to have increased blood serotonin levels.[61] It has been hypothesized that increased activity of serotonin in the developing brain may facilitate the onset of autism spectrum disorder, with an association found in six out of eight studies between the use of selective serotonin reuptake inhibitors (SSRIs) by the pregnant mother and the development of ASD in the child exposed to SSRI in the antenatal environment. The study could not definitively conclude SSRIs caused the increased risk for ASDs due to the biases found in those studies, and the authors called for more definitive, better conducted studies.[90] Confounding by indication has since then been shown to be likely.[91] However, it is also hypothesized that SSRIs may help reduce symptoms of ASD and even positively affect brain development in some ASD patients.[61]
## Diagnosis[edit]
Process for screening and diagnosing Autism Spectrum Disorder; ASD – Autism Spectrum Disorder; M-CHAT – Modified Checklist for Autism in Toddlers; (+) – positive test result; (-) – negative test result
ASD can be detected as early as 18 months or even younger in some cases.[92] A reliable diagnosis can usually be made by the age of two years, however, because of delays in seeking and administering assessments, diagnoses often occur much later.[93] The diverse expressions of ASD behavioral and observational symptoms and absence of one specific genetic or molecular marker for the disease pose diagnostic challenges to clinicians who use assessment methods based on symptoms alone. Individuals with an ASD may present at various times of development (e.g., toddler, child, or adolescent), and symptom expression may vary over the course of development.[94] Furthermore, clinicians who use those methods must differentiate among pervasive developmental disorders, and may also consider similar conditions, including intellectual disability not associated with a pervasive developmental disorder, specific language disorders, ADHD, anxiety, and psychotic disorders.[95] Ideally the diagnosis of ASD should be given by a team of professionals from different disciplines (e.g. child psychiatrists, child neurologists, psychologists) and only after the child has been observed in many different settings.[96]
Considering the unique challenges in diagnosing ASD using behavioral and observational assessment, specific practice parameters for its assessment were published by the American Academy of Neurology in the year 2000,[97] the American Academy of Child and Adolescent Psychiatry in 1999,[94] and a consensus panel with representation from various professional societies in 1999.[98] The practice parameters outlined by these societies include an initial screening of children by general practitioners (i.e., "Level 1 screening") and for children who fail the initial screening, a comprehensive diagnostic assessment by experienced clinicians (i.e. "Level 2 evaluation"). Furthermore, it has been suggested that assessments of children with suspected ASD be evaluated within a developmental framework, include multiple informants (e.g., parents and teachers) from diverse contexts (e.g., home and school), and employ a multidisciplinary team of professionals (e.g., clinical psychologists, neuropsychologists, and psychiatrists).[99]
As of 2019[update], psychologists would wait until a child showed initial evidence of ASD tendencies, then administer various psychological assessment tools to assess for ASD.[99] Among these measurements, the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) are considered the "gold standards" for assessing autistic children.[100][101] The ADI-R is a semi-structured parent interview that probes for symptoms of autism by evaluating a child's current behavior and developmental history. The ADOS is a semistructured interactive evaluation of ASD symptoms that is used to measure social and communication abilities by eliciting several opportunities (or "presses") for spontaneous behaviors (e.g., eye contact) in standardized context. Various other questionnaires (e.g., The Childhood Autism Rating Scale, Autism Treatment Evaluation Checklist) and tests of cognitive functioning (e.g., The Peabody Picture Vocabulary Test) are typically included in an ASD assessment battery.
### Screening[edit]
Screening recommendations for autism in children younger than 3 years are:[102]
* US Preventive Services Task Force (USPSTF) does not recommend universal screen of young children for autism due to poor evidence of benefits of this screening when parents and clinicians have no concerns about ASD. The major concern is a false-positive diagnosis that would burden a family with very time consuming and financially demanding treatment interventions when it is not truly required. USPSTF also did not find any robust studies showing effectiveness of behavioral therapies in reducing ASD symptom severity[102]
* American Academy of Pediatrics recommends ASD screening of all children between the ages if 18 and 24 months.[102] The AAP also recommends that children who screen positive for ASD be referred to ASD treatment services without waiting for a comprehensive diagnostic workup.[103]
* The American Academy of Family Physicians did not find sufficient evidence of benefit of universal early screening for ASD[102]
* The American Academy of Neurology and Child Neurology Society recommends general routine screening for delayed or abnormal development in children followed by screening for ASD only if indicated by the general developmental screening[102]
* Thee American Academy of Child and Adolescent Psychiatry recommend routinely screening autism symptoms in young children[102]
* The UK National Screening Committee does not recommend universal ASD screening in young children. Their main concerns includes higher chances of misdiagnosis at younger ages and lack of evidence of effectiveness of early interventions[102]
### Misdiagnosis[edit]
There is a concern about significant levels of misdiagnosis of autism in neurodevelopmentally normal children. This is because 18–37% of children diagnosed with ASD eventually lose their diagnosis and this high rate of lost diagnosis cannot be accounted for by successful ASD treatment alone. The common reasons parents understood as the cause of lost ASD diagnosis were new information about child (73.5%), diagnosis given so child could receive ASD treatment services (24.2%) to treat another developmental disorder, ASD treatment success (21%), and incorrect diagnosis (1.9%).[103]
Many of the children who were later found not to meet ASD diagnosis criteria then received diagnosis for another developmental disorder like ADHD (most common), sensory disorders, anxiety, personality disorder, or learning disability.[103] Neurodevelopment and psychiatric disorders that are commonly misdiagnosed as ASD include specific language impairment, social communication disorder, anxiety disorder, reactive attachment disorder, cognitive impairment, visual impairment, hearing impairment and normal behavioral variations.[104] Some normal behavioral variations that resemble autistic traits are repetitive behaviors, sensitivity to change in daily routines, focused interests, and toe-walking. These are considered normal behavioral variations when they do not cause impaired function. Boys are more likely to exhibit repetitive behaviors especially when excited, tired, bored, or stressed. Some ways of distinguishing normal behavioral variations from abnormal behaviors are the ability of the child to suppress these behaviors and the absence of these behaviors during sleep.[96]
Listed below are some risk factors for ASD misdiagnosis:
* Children diagnosed with PDD-NOS or a mild form of ASD which may be harder to distinguish from other developmental delays[103]
* Children diagnosed with ASD whose parents had no concerns about abnormal development in their child[103]
* Initial ASD diagnosis given by generalists (e.g. pediatricians, family physicians etc.), mental health providers, and schools rather than specialists in child neurodevelopmental disorders e.g. child psychiatrists or child neurologists[103]
### Prognosis[edit]
Few children who are correctly diagnosed with ASD are thought to lose this diagnosis due to treatment or outgrowing their symptoms. Children with poor treatment outcomes also tend to be ones that had moderate to severe forms of ASD, whereas children who appear to have responded to treatment are the ones with milder forms of ASD.[103]
### Comorbidity[edit]
Main article: Conditions comorbid to autism spectrum disorders
Autism spectrum disorders tend to be highly comorbid with other disorders. Comorbidity may increase with age and may worsen the course of youth with ASDs and make intervention/treatment more difficult. Distinguishing between ASDs and other diagnoses can be challenging, because the traits of ASDs often overlap with symptoms of other disorders, and the characteristics of ASDs make traditional diagnostic procedures difficult.[105][106]
* The most common medical condition occurring in individuals with autism spectrum disorders is seizure disorder or epilepsy, which occurs in 11–39% of individuals with ASD.[107]
* Tuberous sclerosis, an autosomal dominant genetic condition in which non-malignant tumors grow in the brain and on other vital organs, is present in 1–4% of individuals with ASDs.[108]
* Intellectual disabilities are some of the most common comorbid disorders with ASDs. Recent estimates suggest that 40–69% of individuals with ASD have some degree of an intellectual disability,[44] more likely to be severe for females. A number of genetic syndromes causing intellectual disability may also be comorbid with ASD, including fragile X, Down, Prader-Willi, Angelman, Williams syndrome[109] and SYNGAP1-related intellectual disability.[medical citation needed][110][111]
* Learning disabilities are also highly comorbid in individuals with an ASD. Approximately 25–75% of individuals with an ASD also have some degree of a learning disability.[112]
* Various anxiety disorders tend to co-occur with autism spectrum disorders, with overall comorbidity rates of 7–84%.[44] Rates of comorbid depression in individuals with an ASD range from 4–58%.[113] The relationship between ASD and schizophrenia remains a controversial subject under continued investigation, and recent meta-analyses have examined genetic, environmental, infectious, and immune risk factors that may be shared between the two conditions.[114][115][116]
* Deficits in ASD are often linked to behavior problems, such as difficulties following directions, being cooperative, and doing things on other people's terms.[117] Symptoms similar to those of attention deficit hyperactivity disorder (ADHD) can be part of an ASD diagnosis.[118]
* Sensory processing disorder is also comorbid with ASD, with comorbidity rates of 42–88%.[119]
* Starting in adolescence, some people with Asperger syndrome (26% in one sample)[120] fall under the criteria for the similar condition schizoid personality disorder, which is characterised by a lack of interest in social relationships, a tendency towards a solitary or sheltered lifestyle, secretiveness, emotional coldness, detachment and apathy.[120][121][122] Asperger syndrome was traditionally called "schizoid disorder of childhood".
## Management[edit]
Main article: Autism therapies
There is no known cure for autism, although those with Asperger syndrome and those who have autism and require little-to-no support are more likely to experience a lessening of symptoms over time.[123][124][125] Several interventions can help children with autism.[18] The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. In general, higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes.[126][127] Although evidence-based interventions for autistic children vary in their methods, many adopt a psychoeducational approach to enhancing cognitive, communication, and social skills while minimizing problem behaviors. It has been argued that no single treatment is best and treatment is typically tailored to the child's needs.[128]
### Non-pharmacological interventions[edit]
Intensive, sustained special education or remedial education programs and behavior therapy early in life can help children acquire self-care, social, and job skills. Available approaches include applied behavior analysis, developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy.[128] Among these approaches, interventions either treat autistic features comprehensively, or focus treatment on a specific area of deficit.[127] Generally, when educating those with autism, specific tactics may be used to effectively relay information to these individuals. Using as much social interaction as possible is key in targeting the inhibition autistic individuals experience concerning person-to-person contact. Additionally, research has shown that employing semantic groupings, which involves assigning words to typical conceptual categories, can be beneficial in fostering learning.[129]
There has been increasing attention to the development of evidence-based interventions for young children with ASD. Two theoretical frameworks outlined for early childhood intervention include applied behavioral analysis (ABA) and the developmental social-pragmatic model (DSP).[127] Although ABA therapy has a strong evidence base, particularly in regard to early intensive home-based therapy, ABA's effectiveness may be limited by diagnostic severity and IQ of the person affected by ASD.[130] The Journal of Clinical Child and Adolescent Psychology has deemed two early childhood interventions as "well-established": individual comprehensive ABA, and focused teacher-implemented ABA combined with DSP.[127]
Another evidence-based intervention that has demonstrated efficacy is a parent training model, which teaches parents how to implement various ABA and DSP techniques themselves.[127] Various DSP programs have been developed to explicitly deliver intervention systems through at-home parent implementation.
A multitude of unresearched alternative therapies have also been implemented. Many have resulted in harm to autistic people and should not be employed unless proven to be safe.[128] However, a recent systematic review on adults with autism has provided emerging evidence for decreasing stress, anxiety, ruminating thoughts, anger, and aggression through mindfulness-based interventions for improving mental health.[131]
In October 2015, the American Academy of Pediatrics (AAP) proposed new evidence-based recommendations for early interventions in ASD for children under 3.[132] These recommendations emphasize early involvement with both developmental and behavioral methods, support by and for parents and caregivers, and a focus on both the core and associated symptoms of ASD.[132] However, a Cochrane review found no evidence that early intensive behavioral intervention (EIBI) is effective in reducing behavioral problems associated with autism in most children with ASD but did help improve IQ and language skills. The Cochrane review did acknowledge that this may be due to the low quality of studies currently available on EIBI and therefore providers should recommend EIBI based on their clinical judgement and the family's preferences. No adverse effects of EIBI treatment were found.[133] Studies on pet therapy have shown positive effects.[134]
Generally speaking, treatment of ASD focuses on behavioral and educational interventions to target its two core symptoms: social communication deficits and restricted, repetitive behaviors.[135] If symptoms continue after behavioral strategies have been implemented, some medications can be recommended to target specific symptoms or co-existing problems such as restricted and repetitive behaviors (RRBs), anxiety, depression, hyperactivity/inattention and sleep disturbance.[135] Melatonin for example can be used for sleep problems.[136]
While there are a number of parent-mediated behavioral therapies to target social communication deficits in children with autism, there is uncertainty regarding the efficacy of interventions to treat RRBs.[137][138]
### Pharmacological interventions[edit]
There is some emerging data that show positive effects of risperidone on restricted and repetitive behaviors (i.e., stimming; e.g., flapping, twisting, complex whole-body movements), but due to the small sample size of these studies and the concerns about its side effects, antipsychotics are not recommended as primary treatment of RRBs.[139]
## Epidemiology[edit]
Main article: Epidemiology of autism
While rates of autism spectrum disorders are consistent across cultures, they vary greatly by gender, with boys diagnosed far more frequently than girls. The average male-to-female diagnosis ratio for ASDs is 4.2:1,[140] with 1 in 70 boys, but only 1 in 315 girls.[141] Girls, however, are more likely to have associated cognitive impairment. Among those with an ASD and intellectual disability, the sex ratio may be closer to 2:1.[142] Prevalence differences may be a result of gender differences in expression of clinical symptoms, with women and girls with autism showing less atypical behaviors and, therefore, less likely to receive an ASD diagnosis.[143]
Autism prevalence has been estimated at 1–2 per 1,000, Asperger syndrome at roughly 0.6 per 1,000, childhood disintegrative disorder at 0.02 per 1,000, and PDD-NOS at 3.7 per 1,000.[144] These rates are consistent across cultures and ethnic groups, as autism is considered a universal disorder.[44]
Using DSM-V criteria 92% of the children diagnosed with a autism spectrum disorder per DSM-IV still meet the diagnostic criteria of an autism spectrum disorder. However if both Autism Spectrum Disorder and Social Communication Disorder categories of DSM-V are combined, the prevalence of autism is mostly unchanged from the prevalence per the DSM-IV criteria. The best estimate for prevalence of ASD is 0.7% or 1 child in 143 children.[145] Relatively mild forms of autism, such as Aspergers as well as other developmental disorders were included in the recent DSM-5 diagnostic criteria.[146] ASD rates were constant between 2014 and 2016 but twice the rate compared to the time period between 2011 and 2014 (1.25 vs 2.47%). A Canadian meta-analysis from 2019 confirmed these effects as the profiles of people diagnosed with autism became less and less different from the profiles of the general population.[147] In the US, the rates for diagnosed ASD have been steadily increasing since 2000 when records began being kept.[148] While it remains unclear whether this trend represents a true rise in incidence, it likely reflects changes in ASD diagnostic criteria, improved detection, and increased public awareness of autism.[149]
### United States[edit]
In the United States it is estimated to affect more than 2% of children (about 1.5 million) as of 2016.[150] According to the latest CDC prevalence reports, 1 in 59 children (1.7%) in the United States had a diagnosis of ASD in 2014, reflecting a 2.5-fold increase from the prevalence rate in 2000.[146] Prevalence is estimated at 6 per 1,000 for autism spectrum disorders as a whole,[144] although prevalence rates vary for each of the developmental disorders in the spectrum.
## History[edit]
Further information: Autism § History
The word autism comes from the greek word "autos" whose meaning was first established by Eugen Bleuler.[151] Autism as it is known today can be drawn back to the late 1930's. Two separate psychiatrists used the word autism to describe the patients they were studying in their own clinical research. Victor, the Wild Boy of Aveyron, was found deep in the woods of Central France. He was non-verbal amongst his teenage years, and his case was widely popular among society for its time. Such cases brought awareness to Autism, and more research was conducted on the natural dimensions of human behavior. The discussion of Autism prior to the twentieth century is one that brings about much controversy. Without researchers being able to meet a consensus on the varying forms around the condition, there was a lack of research being conducted on the disorder. Discussing the syndrome and its complexity frustrated researchers. Controversies have surrounded various claims regarding the etiology of autism spectrum disorders. In the 1950s, the "refrigerator mother theory" emerged as an explanation for autism. The hypothesis was based on the idea that autistic behaviors stem from the emotional frigidity, lack of warmth, and cold, distant, rejecting demeanor of a child's mother.[152] Naturally, parents of children with an autism spectrum disorder suffered from blame, guilt, and self-doubt, especially as the theory was embraced by the medical establishment and went largely unchallenged into the mid-1960s. The "refrigerator mother" theory has since continued to be refuted in scientific literature, including a 2015 systematic review which showed no association between caregiver interaction and language outcomes in ASD.[153]
Leo Kanner, a child psychiatrist, was the first person to describe ASD as a neurodevelopmental disorder in 1943 by calling it 'infantile autism' and therefore rejected the 'refrigerator mother' theory.[154]
Another controversial claim suggests that watching extensive amounts of television may cause autism. This hypothesis was largely based on research suggesting that the increasing rates of autism in the 1970s and 1980s were linked to the growth of cable television at this time.[72]
## Society and culture[edit]
Further information: Societal and cultural aspects of autism
### Caregivers[edit]
Families who care for an autistic child face added stress from a number of different causes. Parents may struggle to understand the diagnosis and to find appropriate care options. Parents often take a negative view of the diagnosis, and may struggle emotionally. In the words of one parent whose two children were both diagnosed with autism, "In the moment of diagnosis, it feels like the death of your hopes and dreams."[155] More than half of parents over the age of 50 are still living with their child as about 85% of people with ASD have difficulties living independently.[156]
### Autism rights movement[edit]
The autism rights movement is a social movement within the context of disability rights that emphasizes the concept of neurodiversity, viewing the autism spectrum as a result of natural variations in the human brain rather than a disorder to be cured.[19] The autism rights movement advocates for including greater acceptance of autistic behaviors; therapies that focus on coping skills rather than imitating the behaviors of those without autism;[157] and the recognition of the autistic community as a minority group.[157][158] Autism rights or neurodiversity advocates believe that the autism spectrum is genetic and should be accepted as a natural expression of the human genome. This perspective is distinct from two other likewise distinct views: the medical perspective, that autism is caused by a genetic defect and should be addressed by targeting the autism gene(s), and fringe theories that autism is caused by environmental factors such as vaccines.[19] A common criticism against autistic activists is that the majority of them are "high-functioning" or have Asperger syndrome and do not represent the views of "low-functioning" autistic people.[158]
### Academic performance[edit]
The number of students identified and served as eligible for autism services in the United States has increased from 5,413 children in 1991–1992 to 370,011 children in the 2010–2011 academic school year.[159] The United States Department of Health and Human Services reported approximately 1 in 68 children at age 8 are diagnosed with autism spectrum disorder (ASD) although onset is typically between ages 2 and 4.[159]
The increasing number of students with ASD in the schools presents significant challenges to teachers, school psychologists, and other school professionals.[159] These challenges include developing a consistent practice that best support the social and cognitive development of the increasing number of students with ASD.[159] Although there is considerable research addressing assessment, identification, and support services for children with ASD, there is a need for further research focused on these topics within the school context.[159] Further research on appropriate support services for students with ASD will provide school psychologists and other education professionals with specific directions for advocacy and service delivery that aim to enhance school outcomes for students with ASD.[159]
Attempts to identify and use best intervention practices for students with autism also pose a challenge due to overdependence on popular or well-known interventions and curricula.[159] Some evidence suggests that although these interventions work for some students, there remains a lack of specificity for which type of student, under what environmental conditions (one-on-one, specialized instruction or general education) and for which targeted deficits they work best.[159] More research is needed to identify what assessment methods are most effective for identifying the level of educational needs for students with ASD.
A difficulty for academic performance in students with ASD, is the tendency to generalize learning.[56] Learning is different for each student, which is the same for students with ASD. To assist in learning, accommodations are commonly put into place for students with differing abilities. The existing schema of these students works in different ways and can be adjusted to best support the educational development for each student.[160]
The cost of educating a student with ASD in the US is about $8,600 a year more than the cost of educating an average student, which is about $12,000.[161]
### Employment[edit]
About half of people in their 20s with autism are unemployed, and one third of those with graduate degrees may be unemployed.[162] Among those on the autism spectrum who find work, most are employed in sheltered settings working for wages below the national minimum.[163] While employers state hiring concerns about productivity and supervision, experienced employers of autistics give positive reports of above average memory and detail orientation as well as a high regard for rules and procedure in autistic employees.[162] A majority of the economic burden of autism is caused by lost productivity in the job market.[164] Some studies also find decreased earning among parents who care for autistic children.[165][166] Adding content related to autism in existing diversity training can clarify misconceptions, support employees, and help provide new opportunities for autistics.[citation needed]
## See also[edit]
* Social narrative
* Love on the Spectrum, Australian Netflix TV series
* Atypical, 2017 TV series
## References[edit]
1. ^ Keen, Daphne; Ward, Stephanie (30 June 2016). "Autistic Spectrum Disorder: A Child Population Profile". Autism. 8 (1): 39–48. doi:10.1177/1362361304040637. PMID 15070546. S2CID 40238783.
2. ^ Wright, Barry; Spikins, Penny; Pearson, Hannah (13 May 2020). "Should Autism Spectrum Conditions Be Characterised in a More Positive Way in Our Modern World?". Medicina. 56 (5): 233. doi:10.3390/medicina56050233. ISSN 1010-660X. PMC 7279498. PMID 32413984.
3. ^ a b c d e f g h i American Psychiatric Association (2013). "Autism Spectrum Disorder. 299.00 (F84.0)". Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Arlington, VA: American Psychiatric Publishing. pp. 50–59. doi:10.1176/appi.books.9780890425596. hdl:2027.42/138395. ISBN 978-0-89042-559-6.
4. ^ a b c Oliver C, Richards C (October 2015). "Practitioner Review: Self-injurious behaviour in children with developmental delay" (PDF). J Child Psychol Psychiatry (Review). 56 (10): 1042–54. doi:10.1111/jcpp.12425. PMID 25916173.
5. ^ Ruggieri V (2020). "Autism, depression and risk of suicide". Medicina. 80 (Suppl 2): 12–16. PMID 32150706.
6. ^ "F84.0 Childhood autism" (PDF). The ICD-10 Classification of Mental and Behavioural Disorders – Clinical descriptions and diagnostic guidelines. Geneva: World Health Organization. p. 198.
7. ^ a b c d e f g h "Autism Spectrum Disorder". NIMH. October 2016. Retrieved 22 January 2018.
8. ^ Case-Smith J, Arbesman M (2008). "Evidence-based review of interventions for autism used in or of relevance to occupational therapy". The American Journal of Occupational Therapy. 62 (4): 416–29. doi:10.5014/ajot.62.4.416. PMID 18712004.
9. ^ a b Accordino RE, Kidd C, Politte LC, Henry CA, McDougle CJ (2016). "Psychopharmacological interventions in autism spectrum disorder". Expert Opinion on Pharmacotherapy. 17 (7): 937–52. doi:10.1517/14656566.2016.1154536. PMID 26891879. S2CID 6255194.
10. ^ a b Vos T, Allen C, Arora M, Barber RM, Bhutta ZA, Brown A, et al. (GBD 2015 Disease and Injury Incidence and Prevalence Collaborators) (October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
11. ^ CDC (13 March 2020). "Screening and Diagnosis | Autism Spectrum Disorder (ASD) | NCBDDD". Centers for Disease Control and Prevention. Retrieved 21 September 2020.
12. ^ a b Lai MC, Lombardo MV, Chakrabarti B, Baron-Cohen S (23 April 2013). "Subgrouping the autism "spectrum": reflections on DSM-5". PLOS Biology. 11 (4): e1001544. doi:10.1371/journal.pbio.1001544. PMC 3635864. PMID 23630456.
13. ^ Weitlauf AS, Gotham KO, Vehorn AC, Warren ZE (February 2014). "Brief report: DSM-5 "levels of support:" a comment on discrepant conceptualizations of severity in ASD". Journal of Autism and Developmental Disorders. 44 (2): 471–6. doi:10.1007/s10803-013-1882-z. PMC 3989992. PMID 23812664.
14. ^ a b Comer RJ (2016). Fundamentals of Abnormal Psychology. New York: Worth /Macmillan Learning. p. 457.
15. ^ Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F (May 2016). "Heritability of autism spectrum disorders: a meta-analysis of twin studies". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 57 (5): 585–95. doi:10.1111/jcpp.12499. PMC 4996332. PMID 26709141.
16. ^ "Autism spectrum disorder fact sheet" (PDF). DSM5.org. American Psychiatric Publishing. 2013. Archived from the original (PDF) on 6 October 2013. Retrieved 13 October 2013.
17. ^ "HRSA-led study estimates 1 in 40 U.S. children has diagnosed autism". hrsa.gov. 19 November 2018. Retrieved 17 October 2019.
18. ^ a b "10 Facts about Autism Spectrum Disorder (ASD)". Early Childhood Development | ACF. Retrieved 6 November 2019.
19. ^ a b c Solomon A (25 May 2008). "The autism rights movement". New York. Archived from the original on 27 May 2008. Retrieved 27 May 2008.
20. ^ a b Lord C, Cook EH, Leventhal BL, Amaral DG (November 2000). "Autism spectrum disorders". Neuron. 28 (2): 355–63. doi:10.1016/S0896-6273(00)00115-X. PMID 11144346. S2CID 7100507.
21. ^ American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed., text revision (DSM-IV-TR). 2000. ISBN 0890420254. Diagnostic criteria for 299.80 Asperger's Disorder (AD).
22. ^ a b National Institute of Mental Health. Autism spectrum disorders (pervasive developmental disorders); 2009 [archived 29 April 2009].
23. ^ Freitag CM (January 2007). "The genetics of autistic disorders and its clinical relevance: a review of the literature". Molecular Psychiatry. 12 (1): 2–22. doi:10.1038/sj.mp.4001896. PMID 17033636. S2CID 205678822.
24. ^ a b Piven J, Palmer P, Jacobi D, Childress D, Arndt S (February 1997). "Broader autism phenotype: evidence from a family history study of multiple-incidence autism families". The American Journal of Psychiatry. 154 (2): 185–90. doi:10.1176/ajp.154.2.185. PMID 9016266.
25. ^ Klin A (May 2006). "[Autism and Asperger syndrome: an overview]". Revista Brasileira de Psiquiatria. 28 (suppl 1): S3-11. doi:10.1590/S1516-44462006000500002. PMID 16791390.
26. ^ "Home | APA DSM-5". Dsm5.org. Archived from the original on 19 November 2008. Retrieved 21 February 2012.
27. ^ Kulage KM, Smaldone AM, Cohn EG (August 2014). "How will DSM-5 affect autism diagnosis? A systematic literature review and meta-analysis". Journal of Autism and Developmental Disorders. 44 (8): 1918–32. doi:10.1007/s10803-014-2065-2. PMID 24531932. S2CID 18865395.
28. ^ "DSM-5 Diagnostic Criteria". U.S. Department of Health & Human Services Interagency Autism Coordinating Committee. Retrieved 17 May 2017.
29. ^ a b c d e Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J (August 2018). "Autism spectrum disorder". Lancet. 392 (10146): 508–520. doi:10.1016/S0140-6736(18)31129-2. PMC 7398158. PMID 30078460. S2CID 51922565.
30. ^ a b American Psychiatric Association, ed. (2013). "Autism Spectrum Disorder, 299.00 (F84.0)". Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. American Psychiatric Publishing. pp. 50–59.
31. ^ a b Treffert DA (May 2009). "The savant syndrome: an extraordinary condition. A synopsis: past, present, future". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 364 (1522): 1351–7. doi:10.1098/rstb.2008.0326. PMC 2677584. PMID 19528017.
32. ^ Minshawi NF, Hurwitz S, Fodstad JC, Biebl S, Morriss DH, McDougle CJ (2014). "The association between self-injurious behaviors and autism spectrum disorders". Psychology Research and Behavior Management. 7: 125–36. doi:10.2147/PRBM.S44635. PMC 3990505. PMID 24748827.
33. ^ a b c Minshawi NF, Hurwitz S, Fodstad JC, Biebl S, Morriss DH, McDougle CJ (April 2014). "The association between self-injurious behaviors and autism spectrum disorders". Psychology Research and Behavior Management. 7: 125–36. doi:10.2147/PRBM.S44635. PMC 3990505. PMID 24748827.
34. ^ Richler J, Huerta M, Bishop SL, Lord C (1 January 2010). "Developmental trajectories of restricted and repetitive behaviors and interests in children with autism spectrum disorders". Development and Psychopathology. 22 (1): 55–69. doi:10.1017/S0954579409990265. PMC 2893549. PMID 20102647.
35. ^ Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). Washington, D.C.: American Psychiatric Association. 2000.
36. ^ "NINDS Asperger Syndrome Information Page". National Institute of Neurological Disorders and Stroke.
37. ^ Mesibov GB (1997). "Ask the Editor: What is PDD-NOS and how is it diagnosed?". Journal of Autism and Developmental Disorders. 27 (4).
38. ^ Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, et al. (May 2009). "Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants". Pediatrics. 123 (5): 1383–91. doi:10.1542/peds.2008-1606. PMC 2833286. PMID 19403506.
39. ^ Lord C (November 1995). "Follow-up of two-year-olds referred for possible autism". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 36 (8): 1365–82. doi:10.1111/j.1469-7610.1995.tb01669.x. PMID 8988272.
40. ^ Zwaigenbaum L (October 2001). "Autistic spectrum disorders in preschool children". Canadian Family Physician. 47 (10): 2037–42. PMC 2018435. PMID 11723598.
41. ^ Martínez-Pedraza F, Carter AS (July 2009). "Autism spectrum disorders in young children". Child and Adolescent Psychiatric Clinics of North America. 18 (3): 645–63. doi:10.1016/j.chc.2009.02.002. PMC 3166636. PMID 19486843.
42. ^ Werner E, Dawson G, Munson J, Osterling J (June 2005). "Variation in early developmental course in autism and its relation with behavioral outcome at 3-4 years of age". Journal of Autism and Developmental Disorders. 35 (3): 337–50. doi:10.1007/s10803-005-3301-6. PMID 16119475. S2CID 22485657.
43. ^ "Autism spectrum disorder – childhood disintegrative disorder: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 8 May 2020.
44. ^ a b c d Mash EJ, Barkley RA (2003). Child Psychopathology. New York: The Guilford Press. pp. 409–454.
45. ^ Ellis Weismer S, Kover ST (December 2015). "Preschool language variation, growth, and predictors in children on the autism spectrum". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 56 (12): 1327–37. doi:10.1111/jcpp.12406. PMC 4565784. PMID 25753577.
46. ^ Dawson G, Osterling J (1997). "Early Intervention in Autism". In Guralnick MJ (ed.). The effectiveness of early intervention. Baltimore: Brookes. pp. 307–326.
47. ^ Barnhill GP (2007). "Outcomes in adults with Asperger syndrome". Focus on Autism and Other Developmental Disabilities. 22 (2): 116–126. doi:10.1177/10883576070220020301. S2CID 1355689.
48. ^ Howlin P, Moss P (May 2012). "Adults with autism spectrum disorders". Canadian Journal of Psychiatry. 57 (5): 275–83. doi:10.1177/070674371205700502. PMID 22546059. S2CID 44544407.
49. ^ Frye RE (August 2018). "Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents". CNS Drugs. 32 (8): 713–734. doi:10.1007/s40263-018-0556-y. PMC 6105175. PMID 30105528.
50. ^ a b c d e f g Augustyn M. "Autism spectrum disorder: Clinical features". UpToDate. Retrieved 22 March 2020.
51. ^ Fusaroli R, Lambrechts A, Bang D, Bowler DM, Gaigg SB (March 2017). "Is voice a marker for Autism spectrum disorder? A systematic review and meta-analysis" (PDF). Autism Research. 10 (3): 384–407. doi:10.1002/aur.1678. PMID 27501063. S2CID 13772771.
52. ^ "Autism: Overview". American Speech-Language-Hearing Association. Retrieved 17 December 2017.
53. ^ a b c d "Autism Spectrum Disorder: Communication Problems in Children". NIDCD. 18 August 2015. Retrieved 17 December 2017.
54. ^ a b Vicker B. "Social communication and language characteristics associated with high-functioning, verbal children and adults with autism spectrum disorder". Indiana Resource Center for Autism. Retrieved 17 December 2017.
55. ^ Keating CT, Cook JL (July 2020). "Facial expression production and recognition in autism spectrum disorders: a shifting landscape". Child Adolesc Psychiatr Clin N Am (Review). 29 (3): 557–571. doi:10.1016/j.chc.2020.02.006. PMID 32471602.
56. ^ a b Lawson W (2001). Understanding and Working With the Spectrum of Autism An Insider's View. Philadelphia, PA: Jessica Kingsley Publishers London and Philadelphia. pp. 33. ISBN 978-1853029714.
57. ^ "Engaging people on the autism spectrum". Autism Spectrum Australia. 7 October 2013.
58. ^ Shaughnessy Hinerman P (1983). Teaching Autistic Children to Communicate. Rockville, Maryland: Aspens System Corporation. p. 180. ISBN 978-0-89443-884-4.
59. ^ Tager-Flusberg H (2010). "The origins of social impairments in autism spectrum disorder: studies of infants at risk". Neural Networks. 23 (8–9): 1072–6. doi:10.1016/j.neunet.2010.07.008. PMC 2956843. PMID 20800990.
60. ^ "Signs & Symptoms – Autism Spectrum Disorder (ASD) – NCBDDD – CDC". Centers for Disease Control and Prevention. 26 February 2015.
61. ^ a b c d e f g h i j k Chen JA, Peñagarikano O, Belgard TG, Swarup V, Geschwind DH (2015). "The emerging picture of autism spectrum disorder: genetics and pathology". Annu Rev Pathol (Review). 10: 111–44. doi:10.1146/annurev-pathol-012414-040405. PMID 25621659.
62. ^ Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, et al. (April 2018). "An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder". Nature Genetics. 50 (5): 727–736. doi:10.1038/s41588-018-0107-y. PMC 5961723. PMID 29700473.
63. ^ Gardener H, Spiegelman D, Buka SL (August 2011). "Perinatal and neonatal risk factors for autism: a comprehensive meta-analysis". Pediatrics. 128 (2): 344–55. doi:10.1542/peds.2010-1036. PMC 3387855. PMID 21746727.
64. ^ a b Gardener H, Spiegelman D, Buka SL (July 2009). "Prenatal risk factors for autism: comprehensive meta-analysis". The British Journal of Psychiatry. 195 (1): 7–14. doi:10.1192/bjp.bp.108.051672. PMC 3712619. PMID 19567888.
65. ^ Mazahery H, Camargo CA, Conlon C, Beck KL, Kruger MC, von Hurst PR (April 2016). "Vitamin D and Autism Spectrum Disorder: A Literature Review". Nutrients. 8 (4): 236. doi:10.3390/nu8040236. PMC 4848704. PMID 27110819.
66. ^ Deer B (8 February 2009). "MMR doctor Andrew Wakefield fixed data on autism". The Sunday Times.
67. ^ Boseley S (2 February 2010). "Lancet retracts 'utterly false' MMR paper". The Guardian – via theguardian.com.
68. ^ Committee to Review Adverse Effects of Vaccines, Institute Of M, Stratton K, Ford A, Rusch E, Clayton EW, et al. (Committee to Review Adverse Effects of Vaccines; Board on Population Health and Public Health Practice; Institute of Medicine) (August 2011). "Chapter: 6 Influenza Vaccine". In Stratton K, Ford A, Rusch E, Clayton EW (eds.). Adverse Effects of Vaccines: Evidence and Causality. Washington (DC): National Academies Press (US). doi:10.17226/13164. ISBN 978-0-309-21435-3. PMID 24624471.
69. ^ Flaherty DK (October 2011). "The vaccine-autism connection: a public health crisis caused by unethical medical practices and fraudulent science". The Annals of Pharmacotherapy. 45 (10): 1302–4. doi:10.1345/aph.1Q318. PMID 21917556. S2CID 39479569.
70. ^ Godlee F, Smith J, Marcovitch H (January 2011). "Wakefield's article linking MMR vaccine and autism was fraudulent". BMJ. 342: c7452. doi:10.1136/bmj.c7452. PMID 21209060. S2CID 43640126.
71. ^ Tan M, Parkin JE (November 2000). "Route of decomposition of thiomersal (thimerosal)". International Journal of Pharmaceutics. 208 (1–2): 23–34. doi:10.1016/S0378-5173(00)00514-7. PMID 11064208.
72. ^ a b Waterhouse L (December 2008). "Autism overflows: increasing prevalence and proliferating theories". Neuropsychology Review. 18 (4): 273–86. doi:10.1007/s11065-008-9074-x. PMID 19015994. S2CID 8863638.
73. ^ "Frequently Asked Questions about Thimerosal". Centers for Disease Control and Prevention. Retrieved 21 February 2017.
74. ^ Taylor LE, Swerdfeger AL, Eslick GD (June 2014). "Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies". Vaccine. 32 (29): 3623–9. doi:10.1016/j.vaccine.2014.04.085. PMID 24814559. Lay summary – news.com.au.
75. ^ Koenig K, Tsatsanis KD, Volkmar FR (2001). "Neurobiology and Genetics of Autism : A Developmental Perspective". In Burack JA, Charman T, Yirmiya N, Zelazo PR (eds.). The development of autism: perspectives from theory and research. Mahwah, N.J.: L. Erlbaum. pp. 73–92. ISBN 9780805832457. OCLC 806185029.
76. ^ Minshew NJ (April 1996). "Brief report: brain mechanisms in autism: functional and structural abnormalities". Journal of Autism and Developmental Disorders. 26 (2): 205–9. doi:10.1007/BF02172013. PMID 8744486. S2CID 8134205.
77. ^ Stanfield AC, McIntosh AM, Spencer MD, Philip R, Gaur S, Lawrie SM (June 2008). "Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies". European Psychiatry. 23 (4): 289–99. doi:10.1016/j.eurpsy.2007.05.006. PMID 17765485.
78. ^ Lefebvre A, Beggiato A, Bourgeron T, Toro R (July 2015). "Neuroanatomical Diversity of Corpus Callosum and Brain Volume in Autism: Meta-analysis, Analysis of the Autism Brain Imaging Data Exchange Project, and Simulation". Biological Psychiatry. 78 (2): 126–34. doi:10.1016/j.biopsych.2015.02.010. PMID 25850620. S2CID 8794474.
79. ^ Sugranyes G, Kyriakopoulos M, Corrigall R, Taylor E, Frangou S (2011). "Autism spectrum disorders and schizophrenia: meta-analysis of the neural correlates of social cognition". PLOS ONE. 6 (10): e25322. Bibcode:2011PLoSO...625322S. doi:10.1371/journal.pone.0025322. PMC 3187762. PMID 21998649.
80. ^ a b c d e O'Reilly C, Lewis JD, Elsabbagh M (2017). "Is functional brain connectivity atypical in autism? A systematic review of EEG and MEG studies". PLOS ONE (Review). 12 (5): e0175870. Bibcode:2017PLoSO..1275870O. doi:10.1371/journal.pone.0175870. PMC 5414938. PMID 28467487.
81. ^ a b c d e f g h Azhari, Atiqah; Azizan, Farouq; Esposito, Gianluca (July 2019). "A systematic review of gut-immune-brain mechanisms in Autism Spectrum Disorder". Developmental Psychobiology. 61 (5): 752–771. doi:10.1002/dev.21803. ISSN 1098-2302. PMID 30523646.
82. ^ Fadiga L, Craighero L, Olivier E (April 2005). "Human motor cortex excitability during the perception of others' action". Current Opinion in Neurobiology. 15 (2): 213–8. doi:10.1016/j.conb.2005.03.013. PMID 15831405. S2CID 10511430.
83. ^ Shamay-Tsoory SG (February 2011). "The neural bases for empathy". The Neuroscientist. 17 (1): 18–24. doi:10.1177/1073858410379268. PMID 21071616. S2CID 2646438.
84. ^ Dinstein I, Thomas C, Behrmann M, Heeger DJ (January 2008). "A mirror up to nature". Current Biology. 18 (1): R13-8. doi:10.1016/j.cub.2007.11.004. PMC 2517574. PMID 18177704.
85. ^ Kalat J (2009). Biological Psychology (Tenth ed.). pp. 237–8. ISBN 978-0-495-60300-9.
86. ^ Kennedy DP, Adolphs R (November 2012). "The social brain in psychiatric and neurological disorders". Trends in Cognitive Sciences. 16 (11): 559–72. doi:10.1016/j.tics.2012.09.006. PMC 3606817. PMID 23047070.
87. ^ Schultz RT (2005). "Developmental deficits in social perception in autism: the role of the amygdala and fusiform face area". International Journal of Developmental Neuroscience. 23 (2–3): 125–41. doi:10.1016/j.ijdevneu.2004.12.012. PMID 15749240. S2CID 17078137.
88. ^ Haas RH, Parikh S, Falk MJ, et al. (December 2007). "Mitochondrial disease: a practical approach for primary care physicians". Pediatrics. 120 (6): 1326–33. doi:10.1542/peds.2007-0391. PMID 18055683. S2CID 4939996.
89. ^ a b Rossignol DA, Frye RE (March 2012). "Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis". Molecular Psychiatry. 17 (3): 290–314. doi:10.1038/mp.2010.136. PMC 3285768. PMID 21263444.
90. ^ Gentile S (August 2015). "Prenatal antidepressant exposure and the risk of autism spectrum disorders in children. Are we looking at the fall of Gods?". Journal of Affective Disorders. 182: 132–7. doi:10.1016/j.jad.2015.04.048. PMID 25985383.
91. ^ Dragioti E, Solmi M, Favaro A, Fusar-Poli P, Dazzan P, Thompson T, et al. (October 2019). "Association of Antidepressant Use With Adverse Health Outcomes: A Systematic Umbrella Review". JAMA Psychiatry. 76 (12): 1241–1255. doi:10.1001/jamapsychiatry.2019.2859. PMC 6777224. PMID 31577342.
92. ^ "Autism Spectrum Disorder (ASD): Screening and Diagnosis". Centers for Disease Control and Prevention. 26 February 2015.
93. ^ Lord C, Risi S, DiLavore PS, Shulman C, Thurm A, Pickles A (June 2006). "Autism from 2 to 9 years of age". Archives of General Psychiatry. 63 (6): 694–701. doi:10.1001/archpsyc.63.6.694. PMID 16754843.
94. ^ a b Volkmar F, Cook EH, Pomeroy J, Realmuto G, Tanguay P (December 1999). "Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. American Academy of Child and Adolescent Psychiatry Working Group on Quality Issues". Journal of the American Academy of Child and Adolescent Psychiatry. 38 (12 Suppl): 32S–54S. doi:10.1016/s0890-8567(99)80003-3. PMID 10624084.
95. ^ Constantino JN, Charman T (March 2016). "Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression" (PDF). The Lancet. Neurology. 15 (3): 279–91. doi:10.1016/s1474-4422(15)00151-9. PMID 26497771. S2CID 206162618.
96. ^ a b Simms, Mark D. (February 2017). "When Autistic Behavior Suggests a Disease Other than Classic Autism". Pediatric Clinics of North America. 64 (1): 127–138. doi:10.1016/j.pcl.2016.08.009. ISSN 1557-8240. PMID 27894440.
97. ^ Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH, Dawson G, et al. (August 2000). "Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society". Neurology. 55 (4): 468–79. doi:10.1212/wnl.55.4.468. PMID 10953176.
98. ^ Filipek PA, Accardo PJ, Baranek GT, Cook EH, Dawson G, Gordon B, et al. (December 1999). "The screening and diagnosis of autistic spectrum disorders". Journal of Autism and Developmental Disorders. 29 (6): 439–84. doi:10.1023/A:1021943802493. PMID 10638459. S2CID 145113684.
99. ^ a b Ozonoff S, Goodlin-Jones BL, Solomon M (September 2005). "Evidence-based assessment of autism spectrum disorders in children and adolescents" (PDF). Journal of Clinical Child and Adolescent Psychology. 34 (3): 523–40. doi:10.1207/s15374424jccp3403_8. PMID 16083393. S2CID 14322690.
100. ^ Corsello C, Hus V, Pickles A, Risi S, Cook EH, Leventhal BL, Lord C (September 2007). "Between a ROC and a hard place: decision making and making decisions about using the SCQ". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 48 (9): 932–40. doi:10.1111/j.1469-7610.2007.01762.x. hdl:2027.42/74877. PMID 17714378.
101. ^ Huerta M, Lord C (February 2012). "Diagnostic evaluation of autism spectrum disorders". Pediatric Clinics of North America. 59 (1): 103–11, xi. doi:10.1016/j.pcl.2011.10.018. PMC 3269006. PMID 22284796.
102. ^ a b c d e f g Siu, Albert L.; US Preventive Services Task Force (USPSTF); Bibbins-Domingo, Kirsten; Grossman, David C.; Baumann, Linda Ciofu; Davidson, Karina W.; Ebell, Mark; García, Francisco A. R.; Gillman, Matthew; Herzstein, Jessica; Kemper, Alex R. (16 February 2016). "Screening for Autism Spectrum Disorder in Young Children: US Preventive Services Task Force Recommendation Statement". JAMA. 315 (7): 691–696. doi:10.1001/jama.2016.0018. ISSN 1538-3598. PMID 26881372.
103. ^ a b c d e f g Blumberg, Stephen J.; Zablotsky, Benjamin; Avila, Rosa M.; Colpe, Lisa J.; Pringle, Beverly A.; Kogan, Michael D. (October 2016). "Diagnosis lost: Differences between children who had and who currently have an autism spectrum disorder diagnosis". Autism: The International Journal of Research and Practice. 20 (7): 783–795. doi:10.1177/1362361315607724. ISSN 1461-7005. PMC 4838550. PMID 26489772.
104. ^ "Conditions That May Look Like Autism, but Aren't". WebMD. Retrieved 10 May 2020.
105. ^ Helverschou SB, Bakken TL, Martinsen H (2011). Matson JL, Sturmey P (eds.). Psychiatric Disorders in People with Autism Spectrum Disorders: Phenomenology and Recognition. International handbook of autism and pervasive developmental disorders. New York: Springer. pp. 53–74. ISBN 9781441980649. OCLC 746203105.
106. ^ Underwood L, McCarthy J, Tsakanikos E (September 2010). "Mental health of adults with autism spectrum disorders and intellectual disability". Current Opinion in Psychiatry. 23 (5): 421–6. doi:10.1097/YCO.0b013e32833cfc18. PMID 20613532. S2CID 13735841.
107. ^ Ballaban-Gil K, Tuchman R (2000). "Epilepsy and epileptiform EEG: association with autism and language disorders". Mental Retardation and Developmental Disabilities Research Reviews. 6 (4): 300–8. doi:10.1002/1098-2779(2000)6:4<300::AID-MRDD9>3.0.CO;2-R. PMID 11107195.
108. ^ Wiznitzer M (September 2004). "Autism and tuberous sclerosis". Journal of Child Neurology. 19 (9): 675–9. doi:10.1177/08830738040190090701. PMID 15563013. S2CID 38157900.
109. ^ Zafeiriou DI, Ververi A, Vargiami E (June 2007). "Childhood autism and associated comorbidities". Brain & Development. 29 (5): 257–72. doi:10.1016/j.braindev.2006.09.003. PMID 17084999. S2CID 16386209.
110. ^ [medical citation needed]Satterstrom FK, Kosmicki JA, Wang J, et al. (February 2020). "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism". Cell. 180 (3): 568–584.e23. doi:10.1016/j.cell.2019.12.036. PMC 7250485. PMID 31981491.
111. ^ Adam MP, Ardinger HH, Pagon RA, et al. (2019). "SYNGAP1-Related Intellectual Disability". Gene Reviews (Review). PMID 30789692.
112. ^ O'Brien G, Pearson J (June 2004). "Autism and learning disability". Autism. 8 (2): 125–40. doi:10.1177/1362361304042718. PMID 15165430. S2CID 17372893.
113. ^ Lainhart J (1999). "Psychiatric problems in individuals with autism, their parents and siblings". International Review of Psychiatry. 11 (4): 278–298. doi:10.1080/09540269974177.
114. ^ Chisholm K, Lin A, Abu-Akel A, Wood SJ (August 2015). "The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrence" (PDF). Neuroscience and Biobehavioral Reviews. 55: 173–83. doi:10.1016/j.neubiorev.2015.04.012. PMID 25956249. S2CID 21450062.
115. ^ Hamlyn J, Duhig M, McGrath J, Scott J (May 2013). "Modifiable risk factors for schizophrenia and autism—shared risk factors impacting on brain development". Neurobiology of Disease. 53: 3–9. doi:10.1016/j.nbd.2012.10.023. PMID 23123588. S2CID 207067275.
116. ^ Crespi BJ, Thiselton DL (October 2011). "Comparative immunogenetics of autism and schizophrenia". Genes, Brain, and Behavior. 10 (7): 689–701. doi:10.1111/j.1601-183X.2011.00710.x. PMID 21649858. S2CID 851655.
117. ^ Tsakanikos E, Costello H, Holt G, Sturmey P, Bouras N (July 2007). "Behaviour management problems as predictors of psychotropic medication and use of psychiatric services in adults with autism" (PDF). Journal of Autism and Developmental Disorders. 37 (6): 1080–5. doi:10.1007/s10803-006-0248-1. PMID 17053989. S2CID 14272598.
118. ^ Rommelse NN, Franke B, Geurts HM, Hartman CA, Buitelaar JK (March 2010). "Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder". European Child & Adolescent Psychiatry. 19 (3): 281–95. doi:10.1007/s00787-010-0092-x. PMC 2839489. PMID 20148275.
119. ^ Baranek GT (October 2002). "Efficacy of sensory and motor interventions for children with autism". Journal of Autism and Developmental Disorders. 32 (5): 397–422. doi:10.1023/A:1020541906063. PMID 12463517. S2CID 16449130.
120. ^ a b Lugnegård T, Hallerbäck MU, Gillberg C (May 2012). "Personality disorders and autism spectrum disorders: what are the connections?". Comprehensive Psychiatry. 53 (4): 333–40. doi:10.1016/j.comppsych.2011.05.014. PMID 21821235.
121. ^ Tantam D (December 1988). "Lifelong eccentricity and social isolation. II: Asperger's syndrome or schizoid personality disorder?". The British Journal of Psychiatry. 153: 783–91. doi:10.1192/bjp.153.6.783. PMID 3256377.
122. ^ Sharon C. Ekleberry (2008). "Cluster A - Schizoid Personality Disorder and Substance Use Disorders". Integrated Treatment for Co-Occurring Disorders: Personality Disorders and Addiction. Routledge. pp. 31–32. ISBN 978-0789036933.
123. ^ McPartland J, Klin A (October 2006). "Asperger's syndrome". Adolescent Medicine Clinics. 17 (3): 771–88, abstract xiii. doi:10.1016/j.admecli.2006.06.010 (inactive 18 January 2021). PMID 17030291.CS1 maint: DOI inactive as of January 2021 (link)
124. ^ Woodbury-Smith MR, Volkmar FR (January 2009). "Asperger syndrome". European Child & Adolescent Psychiatry (Submitted manuscript). 18 (1): 2–11. doi:10.1007/s00787-008-0701-0. PMID 18563474. S2CID 12808995.
125. ^ Coplan J, Jawad AF (July 2005). "Modeling clinical outcome of children with autistic spectrum disorders". Pediatrics. 116 (1): 117–22. doi:10.1542/peds.2004-1118. PMID 15995041. S2CID 8440775. Lay summary – press release (5 July 2005).
126. ^ Eldevik S, Hastings RP, Hughes JC, Jahr E, Eikeseth S, Cross S (May 2009). "Meta-analysis of Early Intensive Behavioral Intervention for children with autism". Journal of Clinical Child and Adolescent Psychology. 38 (3): 439–50. CiteSeerX 10.1.1.607.9620. doi:10.1080/15374410902851739. PMID 19437303. S2CID 205873629.
127. ^ a b c d e Smith T, Iadarola S (2015). "Evidence Base Update for Autism Spectrum Disorder". Journal of Clinical Child and Adolescent Psychology. 44 (6): 897–922. doi:10.1080/15374416.2015.1077448. PMID 26430947.
128. ^ a b c Myers SM, Johnson CP (November 2007). "Management of children with autism spectrum disorders". Pediatrics. 120 (5): 1162–82. doi:10.1542/peds.2007-2362. PMID 17967921. S2CID 1656920. Lay summary – AAP (29 October 2007).
129. ^ Sigman M, Capps L (2002). Children with Autism: A Developmental Perspective. Cambridge: Harvard University Press. pp. 178–179. ISBN 978-0-674-05313-7.
130. ^ Rogers SJ, Vismara LA (January 2008). "Evidence-based comprehensive treatments for early autism". Journal of Clinical Child and Adolescent Psychology. 37 (1): 8–38. doi:10.1080/15374410701817808. PMC 2943764. PMID 18444052.
131. ^ Benevides, Teal W; Shore, Stephen M; Andresen, May-Lynn; Caplan, Reid; Cook, Barb; Gassner, Dena L; Erves, Jasmine M; Hazlewood, Taylor M; King, M Caroline; Morgan, Lisa; Murphy, Lauren E (11 May 2020). "Interventions to address health outcomes among autistic adults: A systematic review". Autism. 24 (6): 1345–1359. doi:10.1177/1362361320913664. ISSN 1362-3613. PMID 32390461.
132. ^ a b Zwaigenbaum L, Bauman ML, Choueiri R, Kasari C, Carter A, Granpeesheh D, et al. (October 2015). "Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research". Pediatrics. 136 (Supplement 1): S60-81. doi:10.1542/peds.2014-3667E. PMID 26430170.
133. ^ Reichow, Brian; Hume, Kara; Barton, Erin E.; Boyd, Brian A. (9 May 2018). "Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD)". The Cochrane Database of Systematic Reviews. 5: CD009260. doi:10.1002/14651858.CD009260.pub3. ISSN 1469-493X. PMC 6494600. PMID 29742275.
134. ^ Siewertsen CM, French ED, Teramoto M (2015). "Autism spectrum disorder and pet therapy". Advances in Mind-Body Medicine. 29 (2): 22–5. PMID 25831431.
135. ^ a b Weissman L (March 2020). "Autism spectrum disorder in children and adolescents: Pharmacologic interventions". Retrieved 17 March 2020.
136. ^ Williams Buckley A, Hirtz D, Oskoui M, et al. (March 2020). "Practice guideline: Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology". Neurology. 94 (9): 392–404. doi:10.1212/WNL.0000000000009033. PMC 7238942. PMID 32051244.
137. ^ Harrop C (August 2015). "Evidence-based, parent-mediated interventions for young children with autism spectrum disorder: The case of restricted and repetitive behaviors". Autism. 19 (6): 662–72. doi:10.1177/1362361314545685. PMID 25186943. S2CID 32326472.
138. ^ Harrop C (August 2015). "Evidence-based, parent-mediated interventions for young children with autism spectrum disorder: The case of restricted and repetitive behaviors". Autism. 19 (6): 662–72. doi:10.1177/1362361314545685. PMID 25186943. S2CID 32326472.
139. ^ Ameis SH, Kassee C, Corbett-Dick P, et al. (November 2018). "Systematic review and guide to management of core and psychiatric symptoms in youth with autism". Acta Psychiatrica Scandinavica. 138 (5): 379–400. doi:10.1111/acps.12918. PMID 29904907. S2CID 49209337.
140. ^ Fombonne E (June 2009). "Epidemiology of pervasive developmental disorders". Pediatric Research. 65 (6): 591–8. doi:10.1203/PDR.0b013e31819e7203. PMID 19218885.
141. ^ (ADDM) Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators (2009). "Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network". MMWR Surveillance Summaries. 58: 1–20.
142. ^ Volkmar FR, Lord C, Bailey A, Schultz RT, Klin A (January 2004). "Autism and pervasive developmental disorders". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 45 (1): 135–70. doi:10.1046/j.0021-9630.2003.00317.x. PMID 14959806.
143. ^ Tsakanikos E, Underwood L, Kravariti E, Bouras N, McCarthy J (2011). "Gender differences in co-morbid psychopathology and clinical management in adults with autism spectrum disorders". Research in Autism Spectrum Disorders. 5 (2): 803–808. doi:10.1016/j.rasd.2010.09.009. ISSN 1750-9467.
144. ^ a b Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, et al. (2007). "The epidemiology of autism spectrum disorders". Annual Review of Public Health. 28: 235–58. doi:10.1146/annurev.publhealth.28.021406.144007. PMID 17367287.
145. ^ Hollander, Eric; Hagerman, Randi Jenssen; Fein, Deborah (30 April 2018). Autism spectrum disorders (First ed.). Washington, DC: American Psychiatric Association Publishing. ISBN 978-1-61537-192-1. OCLC 1022084798.
146. ^ a b Baio J, Wiggins L, Christensen DL, et al. (April 2018). "Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014". Morbidity and Mortality Weekly Report. Surveillance Summaries. 67 (6): 1–23. doi:10.15585/mmwr.ss6706a1. PMC 5919599. PMID 29701730.
147. ^ Rødgaard EM, Jensen K, Vergnes JN, Soulières I, Mottron L (August 2019). "Temporal Changes in Effect Sizes of Studies Comparing Individuals With and Without Autism: A Meta-analysis". JAMA Psychiatry. 76 (11): 1124–1132. doi:10.1001/jamapsychiatry.2019.1956. PMC 6704749. PMID 31433441.
148. ^ "CDC Press Releases". CDC. 1 January 2016. Retrieved 31 December 2019.
149. ^ Hill AP (2014). Volkmar FR (ed.). Epidemiology of autism spectrum disorders. Handbook of Autism and Pervasive Developmental Disorders. Diagnosis, Development, and Brain Mechanisms. 1. New York: Wiley. pp. 57–96. doi:10.1002/9781118911389. ISBN 9781118911389.
150. ^ "HRSA-led study estimates 1 in 40 U.S. children has diagnosed autism". HRSA News Room. U.S. Department of Health & Human Services, Health Resources and Services Administration. 19 November 2018. Retrieved 17 October 2019.
151. ^ Murray, S. (2011). Autism. ProQuest Ebook Central https://ebookcentral.proquest.com
152. ^ Kanner L (July 1949). "Problems of nosology and psychodynamics of early infantile autism". The American Journal of Orthopsychiatry. 19 (3): 416–26. doi:10.1111/j.1939-0025.1949.tb05441.x. PMID 18146742.
153. ^ Tager-Flusberg H (February 2016). "Risk Factors Associated With Language in Autism Spectrum Disorder: Clues to Underlying Mechanisms". Journal of Speech, Language, and Hearing Research. 59 (1): 143–54. doi:10.1044/2015_jslhr-l-15-0146. PMC 4867927. PMID 26502110.
154. ^ Harris, James (February 2018). "Leo Kanner and autism: a 75-year perspective". International Review of Psychiatry (Abingdon, England). 30 (1): 3–17. doi:10.1080/09540261.2018.1455646. ISSN 1369-1627. PMID 29667863. S2CID 4978549.
155. ^ Levinovitz A. "An Alternative-Medicine Believer's Journey Back to Science". WIRED. Retrieved 13 February 2017. "The entire diagnosis and explanation took no more than 45 minutes. 'In the moment of diagnosis, it feels like the death of your hopes and dreams,' Louise [Laidler] says. There's a quiet grief in her voice, even though two decades have passed. 'In a way, it's even harder than a death, because you can't mourn and go on,' she says. 'You have to figure out how to care for your new child.'"
156. ^ Karst JS, Van Hecke AV (September 2012). "Parent and family impact of autism spectrum disorders: a review and proposed model for intervention evaluation". Clinical Child and Family Psychology Review. 15 (3): 247–77. doi:10.1007/s10567-012-0119-6. PMID 22869324. S2CID 19170894.
157. ^ a b Ratner P (10 July 2016). "Should Autism Be Cured or Is "Curing" Offensive?". Big Think. Retrieved 16 June 2019.
158. ^ a b Jaarsma P, Welin S (March 2012). "Autism as a natural human variation: reflections on the claims of the neurodiversity movement". Health Care Analysis. 20 (1): 20–30. doi:10.1007/s10728-011-0169-9. PMID 21311979. S2CID 18618887.
159. ^ a b c d e f g h Stichter JP, Riley-Tillman TC, Jimerson SR (December 2016). "Assessing, understanding, and supporting students with autism at school: Contemporary science, practice, and policy". School Psychology Quarterly. 31 (4): 443–449. doi:10.1037/spq0000184. PMID 27929316.
160. ^ "Jean Piaget's Theory of Cognitive Development | Simply Psychology". simplypsychology.org. Retrieved 19 February 2019.
161. ^ "Facts and Statistics". Autism Society. Retrieved 6 November 2019.
162. ^ a b Ohl A, Grice Sheff M, Small S, Nguyen J, Paskor K, Zanjirian A (2017). "Predictors of employment status among adults with Autism Spectrum Disorder". Work. 56 (2): 345–355. doi:10.3233/WOR-172492. PMID 28211841.
163. ^ DePillis L (12 February 2016). "Disabled people are allowed to work for pennies per hour – but maybe not for much longer". The Washington Post. Retrieved 31 December 2018.
164. ^ Ganz ML (April 2007). "The lifetime distribution of the incremental societal costs of autism". Archives of Pediatrics & Adolescent Medicine. 161 (4): 343–9. doi:10.1001/archpedi.161.4.343. PMID 17404130. Lay summary – Harvard School of Public Health (25 April 2006).
165. ^ Montes G, Halterman JS (April 2008). "Association of childhood autism spectrum disorders and loss of family income". Pediatrics. 121 (4): e821-6. doi:10.1542/peds.2007-1594. PMID 18381511. S2CID 55179. Archived from the original on 4 March 2010.
166. ^ Montes G, Halterman JS (July 2008). "Child care problems and employment among families with preschool-aged children with autism in the United States". Pediatrics. 122 (1): e202-8. doi:10.1542/peds.2007-3037. PMID 18595965. S2CID 22686553. Archived from the original on 6 December 2009.
## External links[edit]
* Autism spectrum at Curlie
Classification
D
* ICD-9-CM: 299.00
* MeSH: D000067877
External resources
* MedlinePlus: 001526
* GeneReviews: Autism Spectrum Disorders
* v
* t
* e
Pervasive developmental disorders and autism spectrum
Main
* Causes
* Comorbid conditions
* Epidemiology
* Heritability
* Societal and cultural aspects
* Medical model
* Therapies
Diagnoses
* Autism spectrum (High-functioning autism
* Classic autism
* Asperger syndrome
* Pervasive developmental disorder not otherwise specified
* Childhood disintegrative disorder
* Rett syndrome)
Related conditions
* Alexithymia
* Attention deficit hyperactivity disorder
* Anxiety disorder (obsessive–compulsive disorder)
* Late talker
* Epilepsy
* Fragile X syndrome
* Hyperlexia
* Savant syndrome
* Sensory processing disorder
* Intellectual disability
* Developmental coordination disorder
* Multiple complex developmental disorder
Controversies
* Autism rights movement
* Autistic enterocolitis
* Facilitated communication
* MMR vaccine
* Rapid prompting method
* Thiomersal (Chelation)
Diagnostic scales
* Gilliam Asperger's disorder scale
* Autism Diagnostic Observation Schedule
* Autism Diagnostic Interview
* Autism-spectrum quotient
* Childhood Autism Rating Scale
Lists
* Autism-related topics
* Fictional characters
* Schools
* v
* t
* e
Autism resources
* Autism
* outline
* spectrum
Awareness
* Autism friendly
* Autism Sunday
* Communication Shutdown
* World Autism Awareness Day
Culture
* Autistic art
* Autism spectrum disorders in the media
* Fictional characters
* Films about autism
* Circle of Friends
* Neurodiversity
* Medical model of autism
* Societal and cultural aspects of autism
Therapies
Psychotropic medication (antipsychotics)
* Aripiprazole
* Risperidone
Behavioral
* Applied behavior analysis (ABA)
* Discrete trial training (Lovaas)
* Picture exchange communication system (PECS)
* Pivotal response treatment
* Positive behavior support
* Cognitive behavior therapy (CBT)
* Social skills training
Developmental
* Early start denver model
* Floortime (The PLAY Project)
Controversial
* Auditory integration training
* Aversive therapy/Electric shocks (Judge Rotenberg Educational Center)
* Chelation of mercury
* Ethical challenges to autism treatment
* Facilitated communication
* Gluten-free casein-free diet
* Hug machine
* Hyperbaric oxygen therapy
* Holding therapy
* Relationship development intervention
* Secretin
* Sensory integration therapy
* Son-Rise
* Vitamin B12
Related
* ADHD medication (Clonidine · Guanfacine · Methylphenidate)
* Melatonin
* Occupational therapy
* Social Stories
* Speech therapy
* SSRI antidepressants (Fluoxetine · Paroxetine · Sertraline)
* Structured teaching (TEACCH)
Centers
Research
United States
* Association for Science in Autism Treatment
* Autism Research Institute
* Autism Science Foundation
* Kennedy Krieger Institute
* National Alliance for Autism Research
* Simons Foundation Autism Research Initiative
* Yale Child Study Center
United Kingdom
* Autism Research Centre (UK)
other / see also
* Conditions and research areas
* Researchers
Therapy
United States
* Center for Autism and Related Disorders (CARD)
* MIND Institute
Schools
* Alpine Learning Group
* Eden II School for Autistic Children
* ELIJA School
* ESPA College (UK)
* Exceptional Minds (USA)
* New England Center for Children
* Pathlight School (Singapore)
* Rebecca School
* Sunfield Children's Home (UK)
* TreeHouse School (UK)
* Western Autistic School (Australia)
* List of schools
Organizations
Americas
United States
* Autism National Committee
* Autism Network International
* Autism Science Foundation
* Autistic Self Advocacy Network
* Autism Society of America
* Autism Speaks
* Centro Ponceño de Autismo
* Daniel Jordan Fiddle Foundation
* Generation Rescue
* Interactive Autism Network
* Interagency Autism Coordinating Committee
* LENA Foundation
* National Alliance for Autism Research
* National Council on Severe Autism
* Talk About Curing Autism
other
* Centro Ann Sullivan (Peru)
* Domus Instituto de Autismo (Mexico)
* Filipino-Canadian Autism Parent Support Group (Canada)
* Geneva Centre for Autism (Canada)
Asia
* Action for Autism (India)
* Autism Resource Centre (Singapore)
Caribbean
* Autistic Society (Trinidad and Tobago)
* Maia Chung Autism and Disabilities Foundation (Jamaica)
Europe
UK
* Autism Anglia
* The Autism Directory
* Autism Awareness Campaign UK
* Autism Cymru
* Autism Plus
* Autistica
* National Autistic Society
* Sacar
other
* Specialisterne (Denmark)
* Aspies For Freedom
* Alliance Autiste
Oceania
* Luke Priddis Foundation (Australia)
International
* Autism rights movement
* Wrong Planet
Literature
Non-fiction
* The Accidental Teacher: Life Lessons from My Silent Son
* Animals in Translation
* Aspergirls: Empowering Females with Asperger's Syndrome
* Autism's False Prophets
* Extreme Love: Autism
* Fall Down 7 Times Get Up 8
* Freaks, Geeks, and Asperger Syndrome: A User Guide to Adolescence
* In a Different Key
* Life Animated
* Like Colour to the Blind
* Look Me in the Eye
* Mother Warriors
* My Autobiography
* NeuroTribes
* Nobody Nowhere
* Overcoming Autism
* The Reason I Jump
* Somebody Somewhere
* Son-Rise: The Miracle Continues
* Strange Son
* Switched On
* Unstrange Minds
Fiction
* The Curious Incident of the Dog in the Night-Time
* Dear John
* House Rules
* Mockingbird
* Saving Max
* Speed of Dark
* The Winter Journey
* With the Light
For younger people
* Everybody Is Different: A Book for Young People Who Have Brothers or Sisters With Autism
* Ian's Walk: A Story about Autism
* Marcelo in the Real World
* Rage: A Love Story
* Rules
Journals
* Autism
* Journal of Autism and Developmental Disorders
* Molecular Autism
* Research in Autism Spectrum Disorders
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autism spectrum
|
c1510586
| 28,182 |
wikipedia
|
https://en.wikipedia.org/wiki/Autism_spectrum
| 2021-01-18T18:53:20 |
{"gard": ["10248"], "mesh": ["D000067877"], "umls": ["C1510586", "C0856975"], "wikidata": ["Q1436063"]}
|
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Congenital pulmonary airway malformation type 1
|
None
| 28,183 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280832
| 2021-01-23T18:43:15 |
{"icd-10": ["Q33.0"], "synonyms": ["CCAM type 1", "CPAM type 1", "Congenital cystic adenomatoid malformation of the lung type 1", "Congenital cystic adenomatous malformation of the lung type 1", "Congenital cystic disease of the lung type 1"]}
|
## Clinical Features
Figuera et al. (1993) reported a 10-month-old girl with facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula), and digital (oligodactyly, preaxial polydactyly) features supporting the diagnosis of OFD I syndrome (311200). However, the child also had remarkable radial shortening, fibular agenesis and coalescence of tarsal bones not previously described in OFD syndromes. The patient was the third child of healthy unrelated parents, aged 35 (father) and 31 (mother) at the time of her birth. Laboratory examinations and karyotype analysis gave normal results.
Taybi and Lachman (1996) described this condition with mesomelic limb shortening as orofaciodigital syndrome type X.
Limbs \- Fibular aplasia \- Oligodactyly \- Preaxial polydactyly \- Radial shortening \- Coalescence of tarsal bones Inheritance \- Autosomal dominant Mouth \- Retrognathia \- Cleft palate \- Vestibular frenula Facies \- Telecanthus Nose \- Flat nasal bridge ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
OROFACIODIGITAL SYNDROME X
|
c1833796
| 28,184 |
omim
|
https://www.omim.org/entry/165590
| 2019-09-22T16:37:05 |
{"doid": ["0060380"], "mesh": ["C563491"], "omim": ["165590"], "orphanet": ["2756"], "synonyms": ["Alternative titles", "OFDS X", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE X", "OROFACIODIGITAL SYNDROME WITH FIBULAR APLASIA", "ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA"]}
|
A number sign (#) is used with this entry because of evidence that primary pulmonary hypertension-1 (PPH1) is caused by heterozygous mutation in the BMPR2 gene (600799) on chromosome 2q33.
Description
Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).
Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013).
### Genetic Heterogeneity of Primary Pulmonary Hypertension
PPH2 (615342) is caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; and PPH4 (615344) is caused by mutation in the KCNK3 gene (603220) on chromosome 2p23.
See 265400 for a possible autosomal recessive form of PPH.
Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284).
Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).
Clinical Features
Melmon and Braunwald (1963) observed 2 proved cases and 3 presumptive cases of primary pulmonary hypertension (PPH) in 3 generations of a family. Parry and Verel (1966) described the disorder in a mother and her 2 daughters and referred to at least 2 other reports of 2 generations being affected. Kingdon et al. (1966) described the condition in brother and sister and their father.
Morse et al. (1992) described a kindred in which 7 members had primary pulmonary hypertension and 2 others had this probable diagnosis. The proband was an 11-year-old girl who had an affected 8-year-old sister. The paternal grandmother died at the age of 21 in severe right heart failure, 3 days after delivering her third child. Three other remarkable families were reported. In affected members of a family with pulmonary hypertension, Inglesby et al. (1973) found elevated levels of antiplasmin (613168).
### Pulmonary Hypertension with Hereditary Hemorrhagic Telangiectasia
Rigelsky et al. (2008) reported a woman diagnosed with pulmonary hypertension at age 24 years. She developed massive hemoptysis at age 35, prompting the discovery of multiple pulmonary arteriovenous malformations consistent with a diagnosis of hereditary hemorrhagic telangiectasia. She also had recurrent epistaxis and nasal telangiectasia. The patient was adopted, and there was no family history available. Genetic analysis revealed a heterozygous mutation in the BMPR2 gene (Q433X; 600799.0026). Mutations in the ACVRL1, ENG (131195), and SMAD4 (600993) genes were excluded. Rigelsky et al. (2008) noted that, although PAH with HHT had usually only been associated with mutations in the ACVRL1 gene, their patient was the first report of PAH and HHT associated with a mutation in the BMPR2 gene. The findings indicated a common molecular pathogenesis in PAH and HHT, most likely dysregulated BMP9 (GDF2; 605120) signaling.
Clinical Management
Gaine and Rubin (1998) reviewed progress in treatment of PPH. The prognosis of untreated PPH is poor. Treatment with oral calcium channel blockers is helpful for a very small percentage of PPH patients, and oral anticoagulation therapy was standard care at the time of the report. Treatment with continuous intravenous epoprostenol had been shown in randomized trials to prolong life and improve clinical function, but it is complicated (requires a chronic indwelling central venous catheter) and expensive. Lung transplantation is a final alternative therapy for patients who do not improve with medical therapies.
Inheritance
Familial PPH is rare and has an incidence of approximately 1 in 100,000 to 1 in 1,000,000. Familial PPH has an autosomal dominant mode of inheritance, reduced penetrance, affects more females than males, and exhibits genetic anticipation (Deng et al., 2000; the International PPH Consortium et al., 2000). Quoting Rich et al. (1987), Rubin (1997) stated that 'familial primary pulmonary hypertension accounted for 6 percent of the 187 cases in the NIH registry.' Incomplete penetrance and a 2-5:1 female predilection is evident in the analysis of published cases. X-linked inheritance is excluded by rare instances of male-to-male transmission and, in one case, of transmission from grandfather to grandson through an unaffected son (Newman, 1981).
Loyd et al. (1984) presented compelling evidence of autosomal dominant inheritance with female preference. They observed 6 deaths from PPH in 2 generations: 4 sisters and 1 daughter of each of 2 of the sisters. In a survey of 9 of the 13 families with PPH reported from North America, they found 8 new cases of PPH in 5 of the 9. There was a 2 to 1 female-to-male ratio, but in one instance male-to-male transmission was observed. In one family, the gene was apparently transmitted from an affected male through 2 generations of unaffected females to a male who died of the disease at age 6.
Loyd et al. (1995) found a pattern of autosomal dominant inheritance with anticipation, a worsening of the disease in successive generations.
Mapping
Morse et al. (1997) used linkage analysis to map the PPH1 gene to chromosome 2q31-q32 in 2 ethnically distinct families.
Following a genomewide search using a set of highly polymorphic short tandem repeat (STR) markers and 19 affected individuals from 6 families, Nichols et al. (1997) obtained initial evidence for linkage with 2 chromosome 2q markers. They subsequently genotyped patients and all available family members for 19 additional markers spanning approximately 40 cM on the long arm of chromosome 2. In this way they obtained a maximum 2-point lod score of 6.97 at theta = 0.0 with marker D2S389. Multipoint linkage analysis yielded a maximum lod score of 7.86 with the marker D2S311. Haplotype analysis established a minimum candidate interval of approximately 25 cM.
### Heterogeneity
Morse et al. (1992) suggested that a familial form of primary pulmonary hypertension may have a susceptibility factor located within or near the MHC locus on chromosome 6p.
Molecular Genetics
Members of the TGF-beta superfamily (see, e.g. 190180), including TGFB, BMPs, and activin, transduce signals by binding to heteromeric complexes of type I and II serine/threonine kinase receptors, leading to transcriptional regulation by phosphorylated Smads (e.g., 601366). The BMPR2 and ACVRL1 genes encode type II and type I serine/threonine kinase receptors, respectively. Mutation in the SMAD9 gene (also known as SMAD8) suggests that downregulation of the downstream TGFB/BMP signaling pathway may play a role in primary pulmonary hypertension (International PPH Consortium et al., 2000; Shintani et al., 2009).
The International PPH Consortium et al. (2000) and Deng et al. (2000) showed that PPH1 is caused by mutations in the BMPR2 gene (600799). These BMPR2 mutations were found in 7 of 8 families exhibiting linkage to markers adjacent to BMPR2 by the International PPH Consortium et al. (2000) and in 9 of 19 of the families exhibiting linkage and/or haplotype sharing with markers adjacent to BMPR2 by Deng et al. (2000). Both groups found that the BMPR2 mutations are heterogeneous and include termination, frameshift, and nonconservative missense changes in amino acid sequence. By comparison with in vitro studies, the International PPH Consortium et al. (2000) predicted that the identified BMPR2 mutations would disrupt ligand binding, kinase activity, and heteromeric dimer formation.
Eddahibi et al. (2001) reported that pulmonary artery smooth muscle cells (SMCs) from patients with PPH grew faster than those from controls when stimulated with serum or serotonin, due to increased expression of 5-HTT (182138). Inhibitors of 5-HTT attenuated the growth-stimulatory effects of serum and serotonin. Expression of 5-HTT was increased in cultured pulmonary artery SMCs as well as in platelets and lungs from patients with PPH, where it predominated in the media of thickened pulmonary arteries and in onion bulb lesions. The L allele variant of the 5-HTT promoter (182138.0001), which is associated with 5-HTT overexpression and increased pulmonary artery SMC growth, was present in homozygous form in 65% of PPH patients but in only 27% of controls (p less than 0.001). Eddahibi et al. (2001) concluded that 5-HTT activity plays a key role in the pathogenesis of pulmonary artery SMC proliferation in PPH and that a 5-HTT polymorphism confers susceptibility to PPH.
Thomson et al. (2000) analyzed the BMPR2 gene in 50 unrelated patients with sporadic PPH and identified 11 different heterozygous mutations in 13 of the 50 PPH patients, including 3 missense, 3 nonsense (see, e.g., 600799.0019), and 5 frameshift mutations. Analysis of parental DNA was possible in 5 cases and showed 3 occurrences of paternal transmission and 2 of de novo mutation of the BMPR2 gene. Thomson et al. (2000) noted that because of low penetrance, in the absence of detailed genealogic data, familial cases may be overlooked.
Humbert et al. (2002) analyzed the BMPR2 gene in 33 unrelated patients with sporadic PPH and 2 sisters with PPH, all of whom had taken fenfluramine derivatives. Three BMPR2 mutations (see, e.g., 600799.0020) were identified in 3 (9%) of the 33 unrelated patients, and a fourth mutation (R211X; 600799.0019) was identified in the 2 sisters. Mutation-positive patients had similar clinical and hemodynamic characteristics when compared to mutation-negative patients, except for a shorter duration of exposure to fenfluramine derivatives before illness (median exposure, 1 month and 4 months, respectively). Humbert et al. (2002) concluded that BMPR2 mutations may combine with exposure to fenfluramine derivatives to greatly increase the risk of developing severe pulmonary arterial hypertension.
In 25 families with PPH and 106 patients with sporadic PPH, all of whom were negative for mutations in the BMPR2 gene by DHPLC analysis or direct sequencing, Aldred et al. (2006) performed multiplex ligation-dependent probe amplification (MLPA) analysis to detect gross BMPR2 rearrangements. Ten different deletions were identified in 7 families and 6 sporadic cases (see, e.g., 600799.0023-600799.0025). One patient with familial PPH had histologic features of pulmonary venoocclusive disease (PVOD; 265450) and was found to have a deletion of exon 2 of the BMPR2 gene (600799.0023); the exon 2 deletion was also identified in an unrelated family with PPH and no known evidence of PVOD. Aldred et al. (2006) noted that 2 large deletions were predicted to result in null alleles (see 600799.0025), providing support for the hypothesis that the predominant molecular mechanism for disease predisposition is haploinsufficiency.
Shintani et al. (2009) identified a heterozygous truncating mutation in the SMAD9 gene (603295.0001) in a patient with PPH. The mutant protein resulted in downregulation of the downstream TGFB/BMP signaling pathway.
Phillips et al. (2008) studied SNP genotypes of TGF-beta (190180) in BMPR2 mutation carriers with pulmonary hypertension and examined the age of diagnosis and penetrance of the pulmonary hypertension phenotype. BMPR2 heterozygotes with least active -509 or codon 10 TGFB1 SNPs had later mean age at diagnosis of familial pulmonary arterial hypertension (39.5 and 43.2 years, respectively) than those with more active genotypes (31.6 and 33.1 years, P = 0.03 and 0.02, respectively). Kaplan-Meier analysis showed that those with less active SNPs had later age at diagnosis. BMPR2 mutation heterozygotes with nonsense-mediated decay-resistant BMPR2 mutations and the least, intermediate, and most active -509 TGFB1 SNP phenotypes had penetrances of 33%, 72%, and 80%, respectively (P = 0.003), whereas those with 0-1, 2, or 3-4 active SNP alleles had penetrances of 33%, 72%, and 75% (P = 0.005). Phillips et al. (2008) concluded that the TGFB1 SNPs studied modulate age at diagnosis and penetrance of familial pulmonary arterial hypertension in BMPR2 mutation heterozygotes, likely by affecting TGFB/BMP signaling imbalance. The authors considered this modulation an example of synergistic heterozygosity.
### Heterogeneity
Grunig et al. (2004) analyzed the BMPR2 gene in 13 unrelated children with PPH diagnosed between the ages of 6 months and 13 years and invasively confirmed, but found no mutations or deletions. Linkage to chromosomes 2 or 12 could not be confirmed in any of 6 families studied. Evaluation of 57 members of 6 families revealed that both parents of the index patient and/or members of both branches had an abnormal pulmonary artery systolic pressure response to exercise. Grunig et al. (2004) concluded that PPH in children may have a different genetic background than in adults, and postulated a recessive mode of inheritance in a proportion of infantile cases.
### Associations Pending Confirmation
Germain et al. (2013) conducted a genomewide association study based on 2 independent case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. Germain et al. (2013) detected a significant association at the CBLN2 locus (600433) mapping to chromosome 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; p = 7.47 x 10(-10)). CBLN2 is expressed in the lung, and its expression was higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs than in control samples.
Population Genetics
In the Finnish population, Sankelo et al. (2005) reported that prevalence of PPH was 5.8 cases per million and annual incidence was 0.2 to 1.3 cases per million. Detailed molecular analysis of 26 sporadic patients and 4 familial cases failed to identify a common founder BMPR2 mutation in this genetically homogeneous population, suggesting that pathogenic BMPR2 mutations are relatively young.
Pathogenesis
Recurrent pulmonary microembolization with impaired fibrinolysis had been postulated but not proved as the basis of this disorder. Herve et al. (1990) suggested that inherited platelet storage deficiency with a high level of 5-hydroxytryptamine in plasma can be a cause of 'primary' pulmonary hypertension. In 3 Caucasian kindreds with familial primary pulmonary hypertension, Morse et al. (1992) found that each family had 1 affected person with an IgA or IgG immunoglobulin deficiency and a specific HLA (142800) typing (HLA-DR3, DRw52,DQw2). Some affected members of a fourth family had autoantibodies and different HLA associations. The authors suggested a susceptibility factor within or near the MHC locus.
Plexiform lesions composed of proliferating endothelial cells occur in 20 to 80% of cases of primary pulmonary hypertension. Lee et al. (1998) studied the question of whether the endothelial cell proliferation in these lesions in PPH is monoclonal or polyclonal by means of the methylation pattern of the androgen receptor gene (313700) by PCR, in proliferating endothelial cells in plexiform lesions from female 4 PPH patients compared with 4 secondary pulmonary hypertension patients. In PPH, 17 of 22 lesions (77%) were monoclonal; however, in secondary PH, all 19 lesions examined were polyclonal. Smooth muscle cell hyperplasia in 11 pulmonary vessels in PPH and secondary PH was polyclonal in all but 1 of the examined vessels. The findings of frequent monoclonal endothelial cell proliferation in PPH suggested that a somatic genetic alteration similar to that present in neoplastic processes may be responsible for the pathogenesis of PPH.
Loyd et al. (1988) analyzed the findings in lung specimens from 23 affected members from 13 families. They found marked heterogeneity in the pathologic lesions within and among families, including frequent coexistence of thrombotic and plexiform lesions. They concluded that the proposed existence of 2 pathologic types of primary pulmonary hypertension, plexogenic and thromboembolic, is probably not valid. They noted that the lesions found in this disorder are not specific but represent different manifestations of the same pathologic process.
Loscalzo (2001) noted that a subset of patients with hereditary hemorrhagic telangiectasia have lung disease that is similar to PPH. The pathologic features of the blood vessels of these patients consist of vascular dilatations and arteriovenous fistulas characteristic of HHT (see 600376), as well as the occlusive arteriopathy of PPH. Loscalzo (2001) presented a hypothetical model of the role of mutations in the BMPR2 and ALK1 (ACVRL1; 601284) genes in the development of primary pulmonary hypertension and PPH with hereditary hemorrhagic telangiectasia, respectively.
The spectrum of trigger factors and molecular mechanisms leading to severe pulmonary hypertension and the formation of plexiform lesions is wide, including both genetic and epigenetic factors. Cool et al. (2003) suggested that infection with the vasculotropic virus HHV-8, the etiologic agent of Kaposi sarcoma (148000), may have a pathogenetic role in primary pulmonary hypertension.
Machado et al. (2003) determined that TCTEL1 (601544), a light chain of the motor complex dynein, interacted with the cytoplasmic domain of BMPR2 and was also phosphorylated by BMPR2, a function disrupted by PPH1-causing mutations within exon 12 (e.g., 600799.0002). BMPR2 and TCTEL1 colocalized to endothelium and smooth muscle within the media of pulmonary arterioles, key sites of vascular remodeling in PPH. The authors proposed that loss of interaction and lack of phosphorylation of TCTEL1 by BMPR2 may contribute to the pathogenesis of PPH.
Li et al. (2009) demonstrated that PAH is characterized by overexpression of NOTCH3 (600276) in small pulmonary artery smooth muscle cells (SMCs) and that the severity of disease in humans and rodents correlates with the amount of NOTCH3 protein in the lung. Notch3 -/- mice did not develop pulmonary hypertension in response to hypoxic stimulation, and both pulmonary hypertension and right ventricular hypertrophy were ameliorated in mice by treatment with DAPT, a gamma-secretase (see 104311) inhibitor that blocks activation of NOTCH3 in SMCs. The authors demonstrated a mechanistic link from NOTCH3 receptor signaling through the HES5 protein (607348) to SMC proliferation and a shift to an undifferentiated SMC phenotype. Li et al. (2009) suggested that the NOTCH3-HES5 signaling pathway is crucial for the development of PAH.
In pulmonary endothelial cells derived from 2 of 3 PPH1 patients with BMPR2 mutations, Drake et al. (2011) found loss of miR21 (611020) induction in response to BMP9 (605120). These cells also showed greater proliferation compared to controls; overexpression of miR21 induced growth suppression. However, canonical BMP signaling was only mildly attenuated in these cells. The findings suggested that disruption of the noncanonical BMP-mediated pathway resulting in aberrant miR processing may play an important role in the pathogenesis of PPH.
Animal Model
See 178400 for discussion of pulmonary hypertension in cattle at high altitude.
Noting that vasoactive intestinal peptide (VIP; 192320) had been reported absent in pulmonary arteries from patients with idiopathic pulmonary arterial hypertension, Said et al. (2007) generated Vip -/- mice and examined them for evidence of PAH. Vip -/- mice exhibited moderate right ventricular (RV) hypertension, RV hypertrophy confirmed by increased ratio of RV to left ventricle plus septum weight, and an enlarged, thickened pulmonary artery and smaller branches with increased muscularization and narrowed lumens compared to wildtype mice. Lung sections also showed perivascular inflammatory cell infiltrates. There was no systemic hypertension or arterial hypoxemia to explain the PAH. The condition was associated with increased mortality. Both the vascular remodeling and RV remodeling were attenuated after a 4-week treatment with VIP. Said et al. (2007) concluded that the Vip -/- mouse was not an exact model of PAH but would be useful for studying molecular mechanisms of PAH and evaluating potential therapeutic agents.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Decreased cardiac output \- Right ventricular hypertrophy \- Right ventricular failure \- Elevated right atrial pressure Vascular \- Increased pulmonary artery pressure (mean greater than 25 mm Hg at rest and 30 mm Hg during exercise) \- Increased pulmonary vascular resistance \- Pulmonary artery vasoconstriction \- Arterial vascular wall remodeling \- Arteries show medial hypertrophy \- Arteries show intimal fibrosis \- Plexiform vascular lesions \- Thrombosis in situ RESPIRATORY Lung \- Dyspnea \- Pulmonary function tests may show restrictive pattern HEMATOLOGY \- Thrombosis LABORATORY ABNORMALITIES \- Arterial hypoxemia MISCELLANEOUS \- Usually presents in third to fourth decade (but onset can range from childhood to elderly) \- Female to male ratio ranges from 2:1 to 4:1 \- Prevalence in the Finnish population of 5.8 per million \- Incidence in the Finnish population of 0.2-1.3 cases per million per year \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the type 2 bone morphogenetic protein receptor gene (BMPR2, 600799.0001 ) ▲ Close
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PULMONARY HYPERTENSION, PRIMARY, 1
|
c0340543
| 28,185 |
omim
|
https://www.omim.org/entry/178600
| 2019-09-22T16:35:24 |
{"doid": ["14557"], "mesh": ["D065627"], "omim": ["178600"], "icd-10": ["I27.0"], "orphanet": ["275777", "422"], "synonyms": ["Alternative titles", "PHT", "PULMONARY ARTERIAL HYPERTENSION"], "genereviews": ["NBK1485"]}
|
A number sign (#) is used with this entry because leukoencephalopathy with vanishing white matter (VWM) can be caused by homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 (606686) on chromosome 12q24, EIF2B2 (606454) on chromosome 14q24, EIF2B3 (606273) on chromosome 1p34, EIF2B4 (606687) on chromosome 2p23, or EIF2B5 (603945) on chromosome 3q27.
Description
Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).
Clinical Features
Van der Knaap et al. (1997) identified 9 children with a 'new' leukoencephalopathy with vanishing white matter. The 9 patients included 3 affected sib pairs; the age range was 3 to 19 years. The onset of the disease was in childhood and the course was chronic, progressive, and episodic. Episodes of deterioration followed infections and minor head traumas, and these could result in unexplained coma. In 8 patients with advanced disease, magnetic resonance imaging (MRI) revealed a diffuse cerebral hemispheric leukoencephalopathy in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In 1 patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate compatible with the presence of mainly CSF and little brain tissue. Autopsy in 1 patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. The disease has an autosomal recessive mode of inheritance. One of the 9 patients who was not part of an affected sib pair had consanguineous parents.
Van der Knaap et al. (1998) reported on phenotypic variation in leukoencephalopathy with vanishing white matter in 5 additional patients who met the diagnostic criteria for the disorder except for the age at onset. Four of the patients had onset in late childhood or adolescence, and one was presymptomatic in his early twenties. The course of the disease tended to be milder than in the patients with early childhood onset. Van der Knaap et al. (1998) concluded that later onset does occur in the disease of vanishing white matter and that both MRS and histopathology are compatible with a primary axonopathy rather than primary demyelination. Extensive metabolic investigation in these 5 patients and the 9 previously reported patients failed to determine an underlying cause.
Schiffmann et al. (1994) described 4 unrelated girls with progressive ataxic diplegia who had normal development until the ages of 1.5 to 5 years. A diffuse confluent abnormality of the white matter of the central nervous system was present on computed tomography and magnetic resonance scans obtained early in the course of the illness. Light and electron microscopy of open-brain biopsy specimens from 2 girls showed selective white matter abnormalities including hypomyelination, demyelination, and gliosis. Myelin-specific proteins in the subcortical white matter were of normal molecular size but were markedly reduced in quantity in both patients compared to control subjects. Lipid analysis revealed decreased levels of characteristic myelin lipids. When examined by magnetic resonance spectroscopic imaging, all patients showed a marked decrease of N-acetylaspartic acid, choline, and creatine in white matter only. The authors concluded that the magnetic resonance spectroscopic imaging profile was a unique diagnostic feature of this group of patients.
Rodriguez et al. (1999) reported neuropathologic, biochemical, and molecular studies of 2 patients, ages 6 and 10 years, who had died of complications of childhood ataxia with diffuse central nervous system hypomyelination. At autopsy, both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter. The severity of white matter lesions contrasted with the paucity of myelin breakdown products and astroglial and microglial reactions. Within the white matter, there was an increase in oligodendrocytes. Myelin protein and lipid content were reduced. In 1 case, there was a decreased amount of proteolipid protein (PLP1; 300401) demonstrated by Western blot, but Southern blot analysis of the PLP1 gene, as well as sequencing of the coding region of the PLP1 gene, were unremarkable.
Cree leukoencephalopathy, or CLE, is a rapidly fatal leukodystrophy described first by Black et al. (1988) in the native Cree and Chippewayan indigenous population of northern Quebec and Manitoba. The onset of CLE is between 3 and 9 months of age, with death in 100% by 21 months of age. Hypotonia often is noted in early infancy followed by relatively sudden onset of seizures, spasticity, hyperventilation, vomiting, and diarrhea, often in a setting of a febrile illness. Onset is followed by developmental regression, lethargy, blindness, and cessation of head growth seen as flattening of the head circumference curve. Computerized tomography of the head shows symmetrically hypodense white matter. Gross neuropathologic examination has shown that white matter is grayish white with translucent zones and subcortical cavitation. Microscopic examination has shown diffuse white matter vacuolation in some cases and astrogliosis with presence of oligodendrocytes and cells described as lipid-laden macrophages (Alorainy et al., 1999). Parents of affected children are normal, and because of a high level of consanguinity in this population, CLE is considered autosomal recessive. Fogli et al. (2002) investigated microscopically 3 brains of CLE patients and found the same typical foamy oligodendrocytes observed in patients with childhood ataxia with diffuse central hypomyelination (CACH), also called myelinopathia centralis diffusa or vanishing white matter disease (VWM).
Black et al. (1988) described an early-onset, progressive encephalopathy in an inbred Canadian Aboriginal community. They termed this disorder Cree encephalitis (225750) and distinguished it clinically from Cree leukoencephalopathy.
Vermeulen et al. (2005) reported 2 unrelated patients with VWM disease, confirmed by genetic analysis, who experienced episodes of rapid neurologic decline after being frightened. At age 4 years, the first patient witnessed his mother falling down the stairs. He lost consciousness immediately after that and remained in a coma for 10 days. He showed partial recovery afterwards, but permanently lost the ability to walk. At age 18 years, he was severely handicapped, wheelchair-bound, and unable to speak. The second patient was frightened by a dog at age 4 years. He had instantaneous neurologic decline with stupor and spastic hemiparesis. Vermeulen et al. (2005) emphasized the rapid onset of neurologic deterioration in these 2 cases compared to the neurologic decline after infection, which usually occurs over the course of a few days.
Federico et al. (2006) reported a Romanian boy who developed VWM disease at age 3 years. He had spasticity, hypotonia, and distal muscle weakness. In addition, he had a peripheral demyelinating neuropathy with decreased sensory and motor nerve conduction velocities. Sural nerve biopsy showed a moderate decrease in the myelinated fibers.
Passemard et al. (2007) reported 4 patients from 2 unrelated families with early-onset VWM disease due to compound heterozygous mutations in the EIF2B5 gene (603945.0009-603945.0011). In the first family, 2 sibs had acute neurologic deterioration in infancy following viral infections. Brain MRIs showed severe white matter abnormalities and complete disappearance of hemispheric white matter, respectively. Both developed progressive severe macrocephaly after age 3 years. In the second family, 1 of 2 sisters who survived beyond age 3 years developed macrocephaly. Passemard et al. (2007) suggested that altered brain water balance may result in swelling of the diseased white matter and macrocephaly in some patients with VWM disease.
### Adult-Onset
Biancheri et al. (2003) reported adult onset of VWM in a 27-year-old woman, confirmed by mutation in the EIF2B5 gene (603945.0004). At the age of 25 years, an MRI study was performed to evaluate the pituitary gland because of elevated prolactin levels. A diffuse leukoencephalopathy was depicted in the absence of any clinical neurologic signs. Two years later, she developed progressive gait abnormalities consistent with spastic paraparesis and speech difficulties. A second MRI showed worsening of the white matter abnormalities with some cystic degeneration. Biancheri et al. (2003) emphasized the clinical variability of the disorder and the importance of a high level of suspicion for VWM even in cases of adult onset.
Ohtake et al. (2004) reported a Japanese woman, born of consanguineous parents, with adult-onset VWM caused by a homozygous mutation in the EIF2B5 gene (603945.0008). The patient had been well until a traffic accident at age 40 years, after which she became progressively disorganized, forgetful, delusional, and emotionally unstable. By age 52 years, she had developed spastic gait, hyperreflexia, and frank dementia with defective planning and confabulation. T2-weighted MRI showed diffuse hyperintense lesions in the cerebral white matter, most prominent in the frontal lobe. Other findings indicated focal rarefaction and cystic degeneration of the white matter, consistent with VWM. Ohtake et al. (2004) suggested that patients with adult-onset VWM may present with presenile dementia or psychiatric symptoms.
Labauge et al. (2009) reviewed the phenotypes of 16 patients from 14 families with adult-onset VWM, defined as onset after age 16 years. The mean age of onset was 31.1 years (range, 16 to 62 years), and there was a decreased male:female ratio (3:13). Initial symptoms were neurologic in 11 patients, psychiatric in 2, and ovarian failure in 2, and 1 patient was initially asymptomatic but diagnosed on brain MRI. Onset of the symptoms was linked to a precipitating factor in 13% of cases, including minor head trauma and delivery. Two (12.5%) patients died during a mean follow-up period of 11.2 years after a stress-induced deterioration. Of the 14 survivors, 62% showed a decline in their cognitive functions, and 79% were severely handicapped or bedridden. One individual remained asymptomatic. Stress worsened clinical symptoms in 38% of the patients. MRI findings included cerebral atrophy (75%), extensive cystic cavitating leukoencephalopathy (81%), corpus callosum (69%) and cerebellar (38%) T2-weighted hyperintensities. Thirteen of the families had mutations in the EIF2B5 gene, including the common R113H mutation (603945.0004), which was found in 11 (79%) of the 14 families. The last family had a mutation in the EIF2B2 gene (E213G; 606454.0001). Labauge et al. (2009) concluded that VWM may be underestimated as an adult-onset inherited leukoencephalopathy.
### Ovarioleukodystrophy
Ovarian failure can be expressed as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years. Schiffmann et al. (1997) described 4 patients with the unusual association of ovarian failure with white matter abnormalities observed on cerebral magnetic resonance imaging (MRI), a condition they termed ovarioleukodystrophy.
Fogli et al. (2003) reported 8 patients from 7 families with ovarioleukodystrophy. The cerebral abnormalities in patients with ovarioleukodystrophy were similar to those in patients with vanishing white matter leukodystrophy. The diagnosis of ovarian failure was confirmed by findings of high basal gonadotropin levels and low estrogen and progesterone levels. All the patients had a normal karyotype, and only 1 patient had consanguineous parents. In 3 patients with primary amenorrhea, school difficulties, together with poor fine motor performance, were present prior to the development of a slowly progressive neurologic disease in adolescence. Only 1 patient presented with rapid cognitive decline, including a frontal lobe syndrome. The age at menarche was normal in the 5 patients with secondary amenorrhea. The age at onset of neurologic deterioration correlated positively with the severity of ovarian dysfunction. In at least 1 case ovarian failure preceded neurologic decline.
Fogli et al. (2003) noted that 2 indigenous North American populations, the Cree and the Chippewa, have a particularly severe form of leukodystrophy and are homozygous for an arg195-to-his (R195H; 603945.0005) mutation in the EIF2B5 gene. Patients with this severe EIF2B mutation, as well as patients with the classical form of VWM, do not survive to puberty and therefore do not express ovarian failure. However, Fogli et al. (2003) pointed out that several reports had suggested that ovarian dysgenesis may be present in these patients. Two children with neuropathologic abnormalities suggestive of VWM were also found at autopsy to have 'ovarian dysgenesis' (Boltshauser et al., 2002) or 'bilateral streak ovaries' (van der Knaap et al., 1997). Furthermore, Verghese et al. (2002) reported 2 sisters who presented with primary amenorrhea and behavior problems at ages greater than 30 years, with subsequent neurologic deterioration, white matter abnormalities detected during cerebral MRI, and pigmented orthochromatic leukodystrophy (POLD) observed at autopsy.
Pathogenesis
Tedeschi et al. (1995) studied a group of 6 patients (4 unrelated girls and 2 brothers from 5 families) with CACH by proton magnetic resonance spectroscopic imaging. Relative to controls, there was a decrease in the signal intensity of N-acetylaspartate, choline, and creatine throughout the white matter in all 6 patients. Tedeschi et al. (1995) identified lactate signals in white matter in 3 of the children with advanced disease. The degree of white matter involvement was not homogeneous over the entire patient group, but did correlate with clinical presentation. No abnormalities were detected in the gray matter. Tedeschi et al. (1995) concluded that this syndrome is secondary to a metabolic defect causing hypomyelination, axonal degeneration, and, in the most compromised cases, accumulation of lactate.
Fogli et al. (2004) measured the guanine nucleotide exchange factor (GEF) activity of EIF2B in transformed lymphocytes from 30 patients with leukoencephalopathies with homozygous or compound heterozygous mutations in EIF2B2, EIF2B3, EIF2B4, and EIF2B5 compared to 10 unaffected heterozygotes and 22 controls with no EIF2B mutation. A significant decrease of 20 to 70% in GEF activity was observed in all mutated cells, and the extent of the decrease correlated with age at onset of disease. Fogli et al. (2004) suggested that a deficiency in GEF activity underlies the encephalopathy in EIF2B-related disease.
In cell cultures from the brain of an individual with VWM who had compound heterozygosity for mutations in EIF2B5 (T91A, 603945.0001 and W628R, 603945.0002), Dietrich et al. (2005) observed prompt development of normal-appearing oligodendrocytes despite the extensive demyelination seen in the patient. However, few glial fibrillary acidic protein (GFAP; 137780)-expressing astrocytes were present in primary cultures, induction of astrocytes was severely compromised, and the few astrocytes generated showed abnormal morphologies and antigenic phenotypes. Lesions in vivo also lacked GFAP-expressing astrocytes, and RNA-interference targeting of EIF2B5 severely compromised the induction of GFAP-expressing cells from normal human glial progenitors. Dietrich et al. (2005) suggested that a deficiency in astrocyte function may contribute to the loss of white matter in VWM leukodystrophy.
Diagnosis
Van der Knaap et al. (1998) proposed the following diagnostic criteria for vanishing white matter: (1) initial motor and mental development is normal or mildly delayed; (2) neurologic deterioration has a chronic progressive and episodic course, and episodes of deterioration may follow minor infection and minor head trauma and may lead to lethargy or coma; (3) neurologic signs consist mainly of cerebellar ataxia and spasticity; optic atrophy may develop, but is not obligatory; epilepsy may occur, but is not the predominant sign of the disease; mental abilities may also be affected, but not to the same degree as the motor functions; and (4) MRI may indicate symmetric involvement of the cerebral hemispheric white matter, and part or all of the white matter has a signal intensity close to or the same as CSF on proton-density, T2-weighted, T1-weighted, and FLAIR images, and cerebellar atrophy varies from mild to severe and primarily involves the vermis. Magnetic resonance spectroscopy can be used to obtain additional evidence for the diagnosis. White matter spectra show a serious decrease or almost complete disappearance of all normal signals and presence of some lactate and glucose. The initial report of vanishing white matter leukoencephalopathy was a report by Hanefeld et al. (1993) of 3 cases with unique features on MRI and proton MRS.
Mapping
Family data indicate that leukoencephalopathy with vanishing white matter has an autosomal recessive inheritance with age-dependent penetrance. Leegwater et al. (1999) performed a genomewide linkage screening in 19 families with different ethnic origins. Significant linkage to 3q27 was observed in a 7-cM interval between markers D3S3730 and D3S3592, with a maximum multipoint lod score of 5.1 calculated from the entire data set. Genealogic studies had suggested that 7 parents in 4 Dutch families with VWM had inherited an allele for the disease from a common ancestor who lived at least 8 generations ago. Analysis of these families provided further evidence for the localization of the gene for VWM to 3q27. The patients shared a haplotype spanning 5 cM between markers D3S1618 and D3S3592. In 1 family of a different ethnic background, the patient had, in the same region, homozygosity for 13 consecutive markers spanning at least 12 cM, suggesting consanguinity between the parents. A healthy sib of this patient had the same homozygous haplotype which suggested that the healthy sib was presymptomatic for the disease. Because of ethical considerations, Leegwater et al. (1999) could not evaluate the apparently healthy sib by MRI and MRS. Both the patient and the asymptomatic sib were adults. Van der Knaap et al. (1998) had described similar phenotypic variation in an affected individual and in the individual's presymptomatic adult sib who had MRI findings typical for VWM.
Molecular Genetics
By a genealogic study and haplotyping, Leegwater et al. (2001) showed that single founder was involved for 12 people with VWM in 9 families. This permitted narrowing of the location of the gene to a critical region containing a total of 25 genes and STSs. One of these genes, EIF2B5 (603945), contained 16 different mutations in 29 patients from 23 families. In addition, they found 2 distantly related individuals who were homozygous for a missense mutation in EIF2B2 (606454), affecting a conserved amino acid. Three other patients also had mutations in EIF2B2. As eIF2B has an essential role in the regulation of translation under different conditions, including stress, this may explain the rapid deterioration in persons with VWM under stress. Mutant translation initiation factors had not theretofore been implicated in disease.
Leegwater et al. (2001) and van der Knaap et al. (2002) showed that leukoencephalopathy with vanishing white matter may be caused by mutation in any of the 5 subunits of translation initiation factor eIF2B.
Fogli et al. (2002) identified a homozygous missense mutation in the EIF2B5 gene (R195H; 603945.0005) in 3 patients with CLE from 2 Cree families. They speculated on the phenotypic differences between CLE and CACH/VWM. A long presymptomatic phase, despite the presence of severe white matter abnormalities on MRI, has been observed in CACH/VWM, in contrast to the early onset and death by 21 months of age in all cases of CLE. Basal ganglia and thalamic abnormalities described in CLE have not been observed in CACH/VWM. Fogli et al. (2002) suggested that the indigenous population of northern Quebec may have evolved an adaptation to an extremely cold environment, rendering them particularly susceptible to dysregulation of protective mechanisms that respond to temperature elevation, such as eIF2B. They concluded that CLE may represent the most severe observed form of eIF2-related disorders, possibly because of an exaggerated response to heat stress induced by a common infectious illness.
van der Knaap et al. (2003) analyzed the eIF2B genes in 9 patients with antenatal- or early infantile-onset encephalopathy and an early demise. Mutations were found in 8 of the patients, with a total count of 7 different mutations: 2 in EIF2B2, 2 in EIF2B4, and 3 in EIF2B5. In addition to signs of serious encephalopathy, they found oligohydramnios, intrauterine growth retardation, cataracts, pancreatitis, hepatosplenomegaly, hypoplasia of the kidneys, and ovarian dysgenesis. Three of the patients were sisters; 2 other patients were brother and sister. The consistently severe phenotype in affected sibs and in Cree encephalopathy patients suggested an influence of the genotype on the phenotype.
Among 11 unrelated Chinese patients with VWM disease, Wu et al. (2009) found that 6 had mutations in the EIF2B5 gene and 5 had mutations in the EIF2B3 gene. Four of the patients had the same novel mutation in EIF2B3 (I346T; 606273.0004). The phenotype was similar to that reported in other populations.
In a patient with VWM, van der Knaap et al. (2002) found compound heterozygosity for 2 mutations in the EIF2B1 gene (606686.0001 and 606686.0002). In 2 sisters with a moderate form of VWM, Ohlenbusch et al. (2005) identified a homozygous missense mutation in the EIF2B1 gene (V183F; 606686.0003). In a patient with leukoencephalopathy with vanishing white matter, Maletkovic et al. (2008) identified compound heterozygous mutations in the EIF2B1 gene (606686.0005 and 606686.0006). The patient was 1 of 15 VWM patients with mutations in 1 of the EIF2B genes. The authors noted that mutations in the EIF2B1 gene account for only approximately 4% of all reported mutations and are found in approximately 1% of patients with EIF2B-related disorders in previous studies.
### Ovarioleukodystrophy
Because of the similarity of cerebral abnormalities in patients with ovarioleukodystrophy to those in patients with VWM, Fogli et al. (2003) tested 8 patients with ovarioleukodystrophy for mutations in the 5 EIF2B genes. In 7 of the patients, they identified mutations in the EIF2B2, EIF2B4, and EIF2B5 genes, including 5 novel mutations. The only patient without identified EIF2B mutations had a distinctive neurologic presentation.
### Associations Pending Confirmation
For discussion of a possible association between a lethal infantile leukoencephalopathy reminiscent of VWM and variation in the NAXE gene, see 608862.0001.
Genotype/Phenotype Correlations
Fogli et al. (2004) found that 68 (87%) of 78 families with MRI criteria of leukodystrophy had a mutation in 4 of the EIF2B genes. Forty-two families (62%) had a mutation in the EIF2B5 gene, and 71% had the arg113-to-his mutation (R113H; 603945.0004). Thirteen families (19%), 10 families (15%), and 3 families (4%) had mutations in the EIF2B2, EIF2B4, and EIF2B3 genes, respectively. No mutations were identified in the EIF2B1 gene. Disease onset ranged from 4 months to 30 years of age, with a mean of 3.9 years, and disease severity ranged from no neurologic signs in 2 to death in 24 individuals; there was no correlation between type of mutated gene and the age at onset or disease severity. However, the EIF2B5 R113H mutation and the EIF2B2 glu213-to-gly mutation (E213G; 606454.0001) were significantly associated with milder phenotypes.
Van der Lei et al. (2010) identified mutations in the EIF2B5 gene in 126 (68%) of 184 patients from a large database of patients with VWM disease. A subset of these patients were chosen for study, including 23 with a homozygous R113H mutation (603945.0004), 49 who had R113H in the compound heterozygous state, 8 with a homozygous T91A mutation (603945.0001), 9 with R113H/R339any, and 7 with T91A/R339any. Patients homozygous for R113H had a milder disease than patients who were compound heterozygous for R113H and patients homozygous for T91A. Patients with R113H/R339any had a milder phenotype than patients with T91A/R339any. Finally, females tended to have a milder disease than males. Van der Lei et al. (2010) concluded that the clinical phenotype in VWM is influenced by the combination of both mutations.
Matsukawa et al. (2011) reported 3 unrelated Japanese patients, each born of consanguineous parents, with adult-onset VWM. Each carried a homozygous mutation in the EIF2B2 (V85E; 606454.0006), EIF2B5 (D270H; 603945.0012), or EIF2B3 (L27Q; 606273.0005) gene, respectively. The 2 affected women also had evidence of ovarian failure. In vitro functional expression studies showed that the GDP/GTP exchange activity of eIF2B containing the mutant subunits was significantly decreased (20-40% decrease) compared to wildtype, although the decrease was not as much as observed in mutations associated with childhood-onset VWM. The findings suggested that mutations that result in residual eIF2B activity may be associated with a later age at disease onset.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Cessation of head growth in affected infants \- Macrocephaly may develop in those who survive past age 2 years Eyes \- Optic atrophy \- Blindness may occur in affected infants GENITOURINARY Internal Genitalia (Female) \- Ovarian failure, in a subset of affected patients (ovarioleukodystrophy) \- Primary gonadal insufficiency NEUROLOGIC Central Nervous System \- Deterioration of motor development \- Unsteady gait \- Loss of coordination \- Chronic-progressive course with episodes of rapid deterioration following fever or head trauma \- Rapid, instantaneous neurologic decline may occur after fright \- Developmental regression in affected children \- Gait difficulties \- Hypotonia \- Lethargy \- Seizures \- Spasticity \- Mild mental decline \- Memory loss \- Cognitive deficits \- Dysarthria \- Leukoencephalopathy, severe \- Cavitating leukoencephalopathy \- Cystic degeneration of cerebral white matter with preserved cortex \- Over time, white matter vanishes and is replaced by CSF \- MRI shows symmetric, diffuse lesions with CSF-like signal intensity \- Biopsy shows white matter hypomyelination, demyelination, gliosis \- Biopsy shows foamy lipid-laden macrophages \- White matter rarefaction and cystic degeneration \- Decreased amount of myelin-specific proteins \- Decreased amount of myelin-specific lipids \- Magnetic resonance spectroscopy (MRS) shows decreased N-acetylaspartic acid in unaffected white matter \- MRS shows decreased choline in affected white matter \- MRS shows decreased creatine in white matter Behavioral Psychiatric Manifestations \- Personality changes \- Delusions \- Indifference \- Emotional lability \- Psychiatric manifestations more common with adult-onset of disease ENDOCRINE FEATURES \- Subset of patients with ovarioleukodystrophy have primary amenorrhea \- Secondary amenorrhea \- Increased serum gonadotropins \- Decreased serum estrogen \- Decreased serum progesterone MISCELLANEOUS \- Onset usually in late infancy or childhood (1 to 6 years) \- Onset may also occur in early infancy, adolescence, or adulthood \- Early death occurs in affected infants (days to months after disease onset) MOLECULAR BASIS \- Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 1 gene (EIF2B1, 606686.0001 ) \- Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 2 gene (EIF2B2, 606454.0001 ) \- Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 3 gene (EIF2B3, 606273.0001 ) \- Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 4 gene (EIF2B4, 606687.0001 ) \- Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 5 gene (EIF2B5, 603945.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
|
c1858991
| 28,186 |
omim
|
https://www.omim.org/entry/603896
| 2019-09-22T16:12:34 |
{"doid": ["0060868"], "mesh": ["D056784"], "omim": ["603896"], "orphanet": ["99854", "157716", "99853", "157719", "157713", "135"], "synonyms": ["Alternative titles", "CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION", "VANISHING WHITE MATTER LEUKODYSTROPHY", "CREE LEUKOENCEPHALOPATHY"], "genereviews": ["NBK1258"]}
|
Kidney cancer
Other namesRenal cancer
Micrograph showing the most common type of kidney cancer (clear cell renal cell carcinoma). H&E stain.
SpecialtyOncology nephrology Urology
SymptomsBlood in the urine, lump in the abdomen, back pain[1][2][3]
Usual onsetAfter the age of 45[4]
TypesRenal cell carcinoma (RCC), transitional cell carcinoma (TCC), Wilms tumor[4]
Risk factorsSmoking, certain pain medications, previous bladder cancer, being overweight, high blood pressure, certain chemicals, family history[1][2]
Diagnostic methodTissue biopsy[1][2][3]
TreatmentSurgery, radiation therapy, chemotherapy, immunotherapy, targeted therapy[1][2][3]
PrognosisFive-year survival ~75% (US 2015)[4]
Frequency403,300 (2018)[5]
Deaths175,000[5]
Kidney cancer, also known as renal cancer, is a group of cancers that starts in the kidney.[4] Symptoms may include blood in the urine, lump in the abdomen, or back pain.[1][2][3] Fever, weight loss, and tiredness may also occur.[1][2][3] Complications can include spread to the lungs or brain.[6]
The main types of kidney cancer are renal cell cancer (RCC), transitional cell cancer (TCC), and Wilms tumor.[7] RCC makes up approximately 80% of kidney cancers, and TCC accounts for most of the rest.[8] Risk factors for RCC and TCC include smoking, certain pain medications, previous bladder cancer, being overweight, high blood pressure, certain chemicals, and a family history.[1][2] Risk factors for Wilms tumor include a family history and certain genetic disorders such as WAGR syndrome.[3] Diagnosis maybe suspected based on symptoms, urine testing, and medical imaging.[1][2][3] It is confirmed by tissue biopsy.[1][2][3]
Treatment may include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy.[1][2][3] Kidney cancer newly affected about 403,300 people and resulted in 175,000 deaths globally in 2018.[5] Onset is usually after the age of 45.[4] Males are affected more often than females.[4] The overall five-year survival rate is 75% in the United States, 71% in Canada, 70% in China, and 60% in Europe.[4][9][10][11] For cancers that are confined to the kidney, the five-year survival rate is 93%, if it has spread to the surrounding lymph nodes it is 70%, and if it has spread widely, it is 12%.[4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Medical imaging
* 3.2 Classification
* 3.3 Laboratory studies
* 3.4 Biopsy
* 3.5 Staging
* 4 Treatment
* 4.1 Children
* 5 Epidemiology
* 5.1 United States
* 5.2 Europe
* 6 History
* 7 References
* 8 External links
## Signs and symptoms[edit]
Early on kidney masses do not typically cause any symptoms and are undetectable on physical examination.[12] As kidney cancer becomes more advanced it classically results in blood in the urine, flank or back pain, and a mass.[12] Other symptoms that are consistent with advanced disease include weight loss, fever, night sweats, palpable swollen lymph nodes in the neck, non-reducing varicocele, bone pain, continuous cough. and bilateral lower leg swelling.[12][13][14]
The classic triad of visible blood in the urine (hematuria), flank pain and palpable abdominal mass occurs in less than 15% of the cases. RCC may present with signs and symptoms caused by the substances the cancer cell produce (i.e. paraneoplastic syndromes).
Paraneoplastic syndromes caused by kidney cancer can be broadly classified as endocrine and non-endocrine. Endocrine dysfunctions include increase in blood calcium levels (hypercalcemia), high blood pressure (hypertension), increased red bloods (polycythemia), liver dysfunction, milky nipple discharge unrelated normal breast-feeding (galactorrhea), and cushings syndrome. Non-endocrine dysfunctions include deposition of protein in tissue (amyloidosis), decrease in hemoglobin or red blood cells (anemia), disorders of nerves, muscles (neuromyopathies), blood vessels (vasculopathy) and blood clotting mechanisms (coagulopathy).[15]
## Causes[edit]
Factors that increase the risk of kidney cancer include smoking, high blood pressure, obesity, faulty genes, a family history of kidney cancer, having kidney disease that needs dialysis, being infected with hepatitis C, and previous treatment for testicular cancer or cervical cancer.[16][17]
There are also other possible risk factors such as kidney stones being investigated.[18][19] Some studies have linked regular use of NSAIDs such as ibuprofen and naproxen to increases of kidney cancer risk by up to 51%.
About 25-30% of the kidney cancer are attributed to smoking.[17] Smokers have a 1.3 times higher risk of developing kidney cancer compared to non-smokers. Moreover, there is a dose-dependent increased risk of cancer development. Men who smoke more than 20 cigarettes per day have twice the risk. Likewise, women who smoke more than 20 cigarettes per day have 1.5 times the risk of non-smokers. After 10 years of smoking cessation a substantial reduction is seen in the risk of developing kidney cancer.[20]
## Diagnosis[edit]
Due to the increase in ultrasound and CT imaging for nonspecific abdominal complaints, kidney masses are frequently incidentally diagnosed on medical imaging.[12][21][22] More than 60% of renal cell carcinoma (the most common type of kidney cancer), are diagnosed incidentally by abdominal imaging for nonspecific abdominal complaints.[12][23]
### Medical imaging[edit]
Since there is a large differential diagnosis for a kidney tumor, the first step is to characterize the mass with medical imaging to assess its likelihood of being benign or malignant. Ultrasonography is sometimes used to evaluate a suspected kidney mass, as it can characterize cystic and solid kidney masses without radiation exposure and at relative low cost.[12] Radiologically tumors are grouped based on appearance into simple cystic, complex cystic, or solid.[12] The most important differentiating feature of a cancerous and non-cancerous tumor on imaging is enhancement.[24] Simple cysts, which are defined by strict criteria[25] are safe to be monitored if the person does not have any symptoms.[12] However, all masses that are not clearly simple cysts should be further evaluated and confirmed by alternate imaging techniques.[26][12]
Computed tomography (CT) of the abdomen administered with and without IV contrast is the ideal imaging to diagnose and stage kidney cancer.[27][26][12] There is tentative evidence that iodinated contrast agents may cause worsening of kidney function in people with chronic kidney disease (CKD) with a glomerular filtration rate (GFR) less than 45ml/min/1.73m2 and should therefore be given cautiously in this group.[28]
Abdominal magnetic resonance imaging (MRI) is an alternative imaging method that can be used to characterize and stage a kidney mass.[29][26][12] It may be suggested if contrast material cannot be given.[29] MRI can also evaluate the inferior vena cava if the mass is suspected to extend outside the kidney.[29]
Since the lungs are the most common organ for kidney cancer to spread to, a chest X-ray or CT scan may be ordered based on the person's risk for metastatic disease.[12][26]
### Classification[edit]
Micrograph of a kidney cancer (chromophobe renal cell carcinoma, oncocytic variant), that may be challenging to differentiate from a benign kidney tumour (renal oncocytoma). H&E stain.
Micrograph of papillary renal cell carcinoma, a form of kidney cancer. H&E stain.
Kidney masses can be classified by the nature of the cells in the growth, or by its appearance on radiography.[12] The term cancer refers to a malignant tumor, which is an uncontrolled growth of abnormal cells.[30] However, kidney masses can be due to growth of normal tissue (benign), inflammatory (a reaction of the immune system), or vascular (cells of the blood vessels).
The most common type of kidney malignancy is renal cell carcinoma,[31] which is thought to originate from cells in the proximal convoluted tubule of the nephron.[12][32] Another type of kidney cancer although less common, is transitional cell cancer (TCC) or urothelial carcinoma of the renal pelvis.[33] The renal pelvis is the part of the kidney that collects urine and drains it into a tube called the ureter.[33] The cells that line the renal pelvis are called transitional cells, and are also sometimes called urothelial cells. The transitional/urothelial cells in the renal pelvis are the same type of cells that line the ureter and bladder. For this reason TCC of the renal pelvis is distinct from RCC and is thought to behave more like bladder cancer.[33] Other rare types of kidney cancers that can arise from the urothelial cells of the renal pelvis are squamous cell carcinoma and adenocarcinoma.[12]
Other causes of kidney cancer include the following:[12]
* Sarcoma\- for example leiomyosarcoma, liposarcoma, angiosarcoma, clear-cell sarcoma and rhabdomyosarcoma are types of sarcomas that have occurred in the kidney
* Metastatic tumor from distant organ
* Lymphoma
* Wilms tumor\- an embryonic tumor that is the most common type of kidney cancer in children
* Carcinoid tumor of the renal pelvis[34]
* Carcinosarcoma[35]
* Inverted urothelial papilloma\- was traditionally regarded as a benign growth. However, there may be an increased risk for recurrence and transformation to TCC.[36]
In children, Wilms tumor is the most common type of kidney cancer.[12] Mesoblastic nephroma, although rare, also typically presents in childhood.
Renal cell carcinoma has been further divided into sub-types based on histological features and genetic abnormalities. The 2004 WHO Classification of the Renal Tumors of the Adults describes these categories:[37]
* Clear cell RCC
* Multilocular clear cell RCC
* Papillary RCC
* Chromophobe RCC
* Carcinoma of the collecting ducts of Bellini
* Renal medullary carcinoma
* Xp11 translocation carcinomas
* Carcinoma associated with neuroblastoma
* Mucinous tubular and spindle cell carcinoma
* Mixed epithelial stromal tumor[38]
Tumors that are considered benign include angiomyolipoma, oncocytoma, reninoma (juxtaglomerular cell tumor), and renal adenoma.[12]
### Laboratory studies[edit]
People with suspected kidney cancer should also have their kidney function evaluated to help determine treatment options. Blood tests to determine kidney function include a comprehensive metabolic panel (CMP), a complete blood count (CBC).[39][26] In addition, these tests help understand the overall health of the person, which can be affected by metastatic disease (disease that is outside of the kidney). For example, liver or bone involvement could result in abnormal liver enzymes, electrolyte abnormalities, or anemia. A urine sample should also be collected for urinalysis.[26][12]
### Biopsy[edit]
The utility of renal mass biopsy (RMB) lies in that it can confirm malignancy with reliability, can direct therapy based on diagnosis, and can provide drainage.[26]
Once imaging has been completed, renal mass biopsy should be considered if there is a high likelihood that the mass is hematologic, metastatic, inflammatory, or infectious.[26] These types of lesions would not be managed surgically, differing from cancer originating from the kidney. Cancer originating outside the kidney and lymphoma are managed systemically.[12][26]
RMB can accurately diagnose malignancy, however, it cannot reliably diagnose benign disease. In other words, if the biopsy shows cancer, there is a 99.8% chance that kidney cancer is present (Positive Predictive Value= 99.8%). A negative biopsy does not rule out a diagnosis of cancer.[40]
### Staging[edit]
Staging is the process that helps determine the extent and spread of the disease.[41] Renal cell carcinoma is the only type of kidney cancer that can be staged. The first step of staging follows the TNM staging system proposed by the Union International Contre le Cancer that is widely used among cancers in other organs.[12] The TNM staging system classifies the primary tumor (T), lymph nodes (N) and distant metastasis (M) of the disease. The American Joint Committee on Cancer (AJCC) published a Cancer Staging Manual revision in 2010 that describes the values of TMN for renal cell carcinoma.[42][12]
Lymph node involvement is classified as either regional lymph node metastasis (N1), or no involvement (N0).[42] Similarly, M1 describes distant metastasis, while M0 describes no distant metastasis.[42]
The primary tumor of renal cell carcinoma is categorized in the table below, as according to the AJCC 8th Edition Cancer Staging Manual:[43][44]
Stage TNM Description
Tx, N0, M0 Tumor cannot be assessed
T0, N0, M0 No evidence of primary tumor
I T1, N0, M0 Tumor ≤7 cm; limited to kidney
T1a, N0, M0 Tumor ≤4 cm; limited to kidney
T1b, N0, M0 Tumor 4-≤7 cm; limited to kidney
II T2, N0, M0 Tumor >7 cm; limited to kidney
T2a, N0, M0 Tumor 7-≤10 cm; limited to kidney
T2b, N0, M0 Tumor >10 cm; limited to kidney
III T3, N0, M0 Tumor extends to major veins or perinephric tissue but not into ipsilateral adrenal gland nor beyond Gerota's fascia
T3a, N0, M0 Tumor grossly extends into renal vein or its segmental branches, or tumor invades the pelvicalyceal system, or tumor invades perirenal and/or renal sinus fat but not beyond Gerota's fascia
T3b, N0, M0 Tumor grossly extends into vena cava below the diaphragm
T3c, N0, M0 Tumor grossly extends into vena cava above the diaphragm or invades the wall of the vena cava
T1-T3, N1, M0 The main tumor can be any size and may be outside the kidney, but it has not spread beyond Gerota’s fascia. The cancer has spread to regional lymph nodes (N1) but has not spread to distant lymph nodes or other organs (M0).
IV T4, any N, M0 Tumor invades beyond Gerota's fascia
Any T, any N, M1 Tumor has spread to distant lymph nodes and/or other organs.
The lungs are the most common site for metastasis, [26] with other common sites including bone, brain, liver, adrenal gland and distant lymph nodes.[45][46][42]
* Stage 1 kidney cancer
* Stage 2 kidney cancer
* Stage 3 kidney cancer
* Stage 4 kidney cancer
## Treatment[edit]
Treatment for kidney cancer depends on the type and stage of the disease. Surgery is the most common treatment as kidney cancer does not often respond to chemotherapy and radiotherapy. Surgical complexity can be estimated by the RENAL Nephrometry Scoring System. If the cancer has not spread it will usually be removed by surgery. In some cases this involves removing the whole kidney however most tumors are amenable to partial removal to eradicate the tumor and preserve the remaining normal portion of the kidney. Surgery is not always possible – for example the patient may have other medical conditions that prevent it, or the cancer may have spread around the body and doctors may not be able to remove it.[47] There is currently no evidence that body-wide medical therapy after surgery where there is no known residual disease, that is, adjuvant therapy, helps to improve survival in kidney cancer. If the cancer cannot be treated with surgery other techniques such as freezing the tumour or treating it with high temperatures may be used. However these are not yet used as standard treatments for kidney cancer.[48]
Other treatment options include biological therapies such as everolimus, torisel, nexavar, sutent, and axitinib, the use of immunotherapy including interferon and interleukin-2.[49][50][51] Immunotherapy is successful in 10 to 15% of people.[52] Sunitinib is the current standard of care in the adjuvant setting along with pazopanib; these treatments are often followed by everolimus, axitinib, and sorafenib. Immune checkpoint inhibitors are also in trials for kidney cancer, and some have gained approval for medical use.[53]
In the second line setting, nivolumab demonstrated an overall survival advantage in advanced clear renal cell carcinoma over everolimus in 2015 and was approved by the FDA.[53][54] Cabozantinib also demonstrated an overall survival benefit over everolimus and was approved by the FDA as a second-line treatment in 2016.[55][56][57] Lenvatinib in combination with everolimus was approved in 2016 for patients who have had exactly one prior line of angiogenic therapy.[58]
In Wilms' tumor, chemotherapy, radiotherapy and surgery are the accepted treatments, depending on the stage of the disease when it is diagnosed.[59]
### Children[edit]
The majority of kidney cancers reported in children are Wilms' tumors. These tumors can begin to grow when a fetus is still developing in the uterus, and may not cause problems until the child is a few years old. Wilms' tumor is most common in children under the age of 5, but can rarely be diagnosed in older children or in adults. It is still not clear what causes most Wilms' tumors. The most common symptoms are swelling of the abdomen and blood in the urine.[59]
## Epidemiology[edit]
Around 208,500 new cases of kidney cancer are diagnosed in the world each year, accounting for just under 2% of all cancers.[60] The highest rates are recorded in North America and the lowest rates in Asia and Africa.[61]
### United States[edit]
The United States' NIH estimates for 2013 around 64,770 new cases of kidney cancer and 13,570 deaths from the disease.[62]
The incidence of kidney cancer is also increasing in the United States. This is thought to be a real increase, not only due to changes in the way the disease is diagnosed.[63]
### Europe[edit]
The most recent estimates of incidence of kidney cancer suggest that there are 63,300 new cases annually in the EU25. In Europe, kidney cancer accounts for nearly 3% of all cancer cases.[64] Kidney cancer is the eighth most common cancer in the UK (around 10,100 people were diagnosed with the disease in 2011), and it is the fourteenth most common cause of cancer death (around 4,300 people died in 2012).[65]
## History[edit]
See also: Timeline of kidney cancer
## References[edit]
1. ^ a b c d e f g h i j "Renal Cell Cancer Treatment". National Cancer Institute. 2019. Retrieved 8 June 2019.
2. ^ a b c d e f g h i j "Transitional Cell Cancer (Kidney/Ureter) Treatment". National Cancer Institute. 2019. Retrieved 8 June 2019.
3. ^ a b c d e f g h i "Wilms Tumor and Other Childhood Kidney Tumors Treatment". National Cancer Institute. 2019. Retrieved 8 June 2019.
4. ^ a b c d e f g h "Cancer of the Kidney and Renal Pelvis - Cancer Stat Facts". SEER. Retrieved 30 May 2019.
5. ^ a b c "Cancer today". IARC. Retrieved 30 May 2019.
6. ^ Sommers, Marilyn S.; Fannin, Ehriel (2014). Diseases and Disorders: A Nursing Therapeutics Manual. F.A. Davis. p. 657. ISBN 9780803644878.
7. ^ "Kidney Cancer". National Cancer Institute. 2019. Retrieved 8 June 2019.
8. ^ Mulders PF, Brouwers AH, Hulsbergen-van der Kaa CA, van Lin EN, Osanto S, de Mulder PH (February 2008). "[Guideline 'Renal cell carcinoma']". Ned Tijdschr Geneeskd (in Dutch). 152 (7): 376–80. PMID 18380384.
9. ^ "Survival statistics for kidney cancer - Canadian Cancer Society". www.cancer.ca. Retrieved 2019-12-02.
10. ^ "European Network of Cancer Registeries" (PDF).
11. ^ Zeng, Hongmei; Chen, Wanqing; Zheng, Rongshou; Zhang, Siwei; Ji, John S; Zou, Xiaonong; Xia, Changfa; Sun, Kexin; Yang, Zhixun; Li, He; Wang, Ning (2018). "Changing cancer survival in China during 2003–15: a pooled analysis of 17 population-based cancer registries". The Lancet Global Health. 6 (5): e555–e567. doi:10.1016/S2214-109X(18)30127-X. PMID 29653628.
12. ^ a b c d e f g h i j k l m n o p q r s t u v Campbell MD, Ph.D, Steven C.; Lane MD, Ph.D, Brian R. (2012). "Malignant Renal Tumors". In Wein MD, Ph.D, Alan J.; Kavoussi MD, MBA, Louis R. (eds.). Campbell-Walsh Urology. Elselvier. ISBN 978-1455775675.
13. ^ Hidayat, K; Du, X; Zou, SY; Shi, BM (July 2017). "Blood pressure and kidney cancer risk: meta-analysis of prospective studies". Journal of Hypertension. 35 (7): 1333–1344. doi:10.1097/HJH.0000000000001286. PMID 28157813. S2CID 3454741.
14. ^ Professionals, Sumedia-Online. "EAU Guidelines: Renal Cell Carcinoma". Uroweb. Retrieved 2019-12-03.
15. ^ Palapattu, Ganesh S.; Kristo, Blaine; Rajfer, Jacob (2002). "Paraneoplastic syndromes in urologic malignancy: the many faces of renal cell carcinoma". Reviews in Urology. 4 (4): 163–170. ISSN 1523-6161. PMC 1475999. PMID 16985675.
16. ^ Tahbaz, Rana; Schmid, Marianne; Merseburger, Axel S. (2018). "Prevention of kidney cancer incidence and recurrence: lifestyle, medication and nutrition". Current Opinion in Urology. 28 (1): 62–79. doi:10.1097/MOU.0000000000000454. ISSN 1473-6586. PMID 29059103. S2CID 25998957.
17. ^ a b "Kidney Cancer - Risk Factors and Prevention". Cancer.Net. 2012-06-25. Retrieved 2019-12-02.
18. ^ Cheungpasitporn, W; Thongprayoon C; O'Corragain OA; Edmonds PJ; Ungprasert P; Kittanamongkolchai W; Erickson SB (9 September 2014). "The Risk of Kidney Cancer in Patients with Kidney Stones: A Systematic Review and Meta-analysis". QJM. 108 (3): 205–12. doi:10.1093/qjmed/hcu195. PMID 25208892.
19. ^ "Risks and causes of kidney cancer". 2017-08-30.
20. ^ Hunt, Jay D.; van der Hel, Olga L.; McMillan, Garnett P.; Boffetta, Paolo; Brennan, Paul (2005-03-10). "Renal cell carcinoma in relation to cigarette smoking: meta-analysis of 24 studies". International Journal of Cancer. 114 (1): 101–108. doi:10.1002/ijc.20618. ISSN 0020-7136. PMID 15523697. S2CID 10136386.
21. ^ Sánchez-Martín, F. M.; Millán-Rodríguez, F.; Urdaneta-Pignalosa, G.; Rubio-Briones, J.; Villavicencio-Mavrich, H. (2008). "Small Renal Masses: Incidental Diagnosis, Clinical Symptoms, and Prognostic Factors". Advances in Urology. 2008: 310694. doi:10.1155/2008/310694. ISSN 1687-6369. PMC 2629071. PMID 19165347.
22. ^ Motzer, Robert J.; Jonasch, Eric; Agarwal, Neeraj; Bhayani, Sam; Bro, William P.; Chang, Sam S.; Toni Choueiri; Costello, Brian A.; Derweesh, Ithaar H.; Fishman, Mayer; Gallagher, Thomas H. (2017-06-01). "Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology". Journal of the National Comprehensive Cancer Network. 15 (6): 804–834. doi:10.6004/jnccn.2017.0100. ISSN 1540-1405. PMID 28596261.
23. ^ Silverman, Stuart G.; Israel, Gary M.; Herts, Brian R.; Richie, Jerome P. (October 2008). "Management of the incidental renal mass". Radiology. 249 (1): 16–31. doi:10.1148/radiol.2491070783. ISSN 1527-1315. PMID 18796665. S2CID 23327389.
24. ^ Israel, Gary M.; Bosniak, Morton A. (2005). "How I Do It: Evaluating Renal Masses". Radiology. 236 (2): 441–450. doi:10.1148/radiol.2362040218. ISSN 0033-8419. PMID 16040900. S2CID 1916092.
25. ^ Silverman, Stuart G.; Pedrosa, Ivan; Ellis, James H.; Hindman, Nicole M.; Schieda, Nicola; Smith, Andrew D.; Remer, Erick M.; Shinagare, Atul B.; Curci, Nicole E.; Raman, Steven S.; Wells, Shane A. (2019-06-18). "Bosniak Classification of Cystic Renal Masses, Version 2019: An Update Proposal and Needs Assessment". Radiology. 292 (2): 475–488. doi:10.1148/radiol.2019182646. ISSN 0033-8419. PMC 6677285. PMID 31210616.
26. ^ a b c d e f g h i j "Renal Cancer: Renal Mass & Localized Renal Cancer Guideline - American Urological Association". www.auanet.org. Retrieved 2019-10-29.
27. ^ Motzer, Robert J.; Jonasch, Eric; Agarwal, Neeraj; Bhayani, Sam; Bro, William P.; Chang, Sam S.; Choueiri, Toni K.; Costello, Brian A.; Derweesh, Ithaar H.; Fishman, Mayer; Gallagher, Thomas H. (2017-06-01). "Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology". Journal of the National Comprehensive Cancer Network. 15 (6): 804–834. doi:10.6004/jnccn.2017.0100. ISSN 1540-1405. PMID 28596261.
28. ^ Subramaniam, Rathan M.; Wilson, Renee F.; Turban, Sharon; Suarez-Cuervo, Catalina; Zhang, Allen; Sherrod, Cheryl; Aboagye, Jonathan; Eng, John; Choi, Michael J. (2016). Contrast-Induced Nephropathy: Comparative Effectiveness of Preventive Measures. AHRQ Comparative Effectiveness Reviews. Rockville (MD): Agency for Healthcare Research and Quality (US). PMID 26866209.
29. ^ a b c Motzer, Robert J.; Jonasch, Eric; Agarwal, Neeraj; Bhayani, Sam; Bro, William P.; Chang, Sam S.; Choueiri, Toni K.; Costello, Brian A.; Derweesh, Ithaar H.; Fishman, Mayer; Gallagher, Thomas H. (2017-06-01). "Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology". Journal of the National Comprehensive Cancer Network. 15 (6): 804–834. doi:10.6004/jnccn.2017.0100. ISSN 1540-1405. PMID 28596261.
30. ^ "Cancer | Definition of Cancer by Lexico". Lexico Dictionaries | English. Retrieved 2019-11-12.
31. ^ "Kidney Cancer | CDC". www.cdc.gov. 2019-07-09. Retrieved 2019-11-12.
32. ^ "Renal Cell Cancer Treatment (PDQ®)–Patient Version". National Cancer Institute. 2004-02-20. Retrieved 2019-11-12.
33. ^ a b c "Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment (PDQ®)–Patient Version". National Cancer Institute. 2004-02-20. Retrieved 2019-11-12.
34. ^ Kuroda N, Katto K, Tamura M, Shiotsu T, Hes O, Michal M, Nagashima Y, Ohara M, Hirouchi T, Mizuno K, Hayashi Y, Lee GH (January 2008). "Carcinoid tumor of the renal pelvis: consideration on the histogenesis". Pathol. Int. 58 (1): 51–4. doi:10.1111/j.1440-1827.2007.02188.x. PMID 18067641.
35. ^ Chiu, KC; Lin, MC; Liang, YC; Chen, CY (2008). "Renal carcinosarcoma: case report and review of literature". Renal Failure. 30 (10): 1034–9. doi:10.1080/08860220802403192. PMID 19016157.
36. ^ Picozzi, Stefano; Casellato, Stefano; Bozzini, Giorgio; Ratti, Dario; Macchi, Alberto; Rubino, Barbara; Pace, Gianna; Carmignani, Luca (November 2013). "Inverted papilloma of the bladder: a review and an analysis of the recent literature of 365 patients". Urologic Oncology. 31 (8): 1584–1590. doi:10.1016/j.urolonc.2012.03.009. ISSN 1873-2496. PMID 22520573.
37. ^ Lopez-Beltran, Antonio; Scarpelli, Marina; Montironi, Rodolfo; Kirkali, Ziya (May 2006). "2004 WHO classification of the renal tumors of the adults". European Urology. 49 (5): 798–805. doi:10.1016/j.eururo.2005.11.035. ISSN 0302-2838. PMID 16442207.
38. ^ Thyavihally YB, Tongaonkar HB, Desai SB (September 2005). "Benign mixed epithelial stromal tumor of the renal pelvis with exophytic growth: case report". Int Semin Surg Oncol. 2: 18. doi:10.1186/1477-7800-2-18. PMC 1215508. PMID 16150156.
39. ^ Motzer, Robert J.; Jonasch, Eric; Agarwal, Neeraj; Bhayani, Sam; Bro, William P.; Chang, Sam S.; Choueiri, Toni K.; Costello, Brian A.; Derweesh, Ithaar H.; Fishman, Mayer; Gallagher, Thomas H. (2017-06-01). "Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology". Journal of the National Comprehensive Cancer Network. 15 (6): 804–834. doi:10.6004/jnccn.2017.0100. ISSN 1540-1405. PMID 28596261.
40. ^ Patel, Hiten D.; Johnson, Michael H.; Pierorazio, Phillip M.; Sozio, Stephen M.; Sharma, Ritu; Iyoha, Emmanuel; Bass, Eric B.; Allaf, Mohamad E. (May 2016). "Diagnostic Accuracy and Risks of Biopsy in the Diagnosis of a Renal Mass Suspicious for Localized Renal Cell Carcinoma: Systematic Review of the Literature". The Journal of Urology. 195 (5): 1340–1347. doi:10.1016/j.juro.2015.11.029. ISSN 1527-3792. PMC 5609078. PMID 26901507.
41. ^ "Kidney Cancer Stages | Renal Cell Carcinoma Staging". www.cancer.org. Retrieved 2019-11-12.
42. ^ a b c d AJCC cancer staging manual. Edge, Stephen B., American Joint Committee on Cancer. (7th ed.). New York: Springer. 2010. ISBN 9780387884400. OCLC 316431417.CS1 maint: others (link)
43. ^ "Kidney Cancer Stages". cancer.org. Last Revised: February 1, 2020
44. ^ Swami, Umang; Nussenzveig, Roberto H.; Haaland, Benjamin; Agarwal, Neeraj (2019). "Revisiting AJCC TNM staging for renal cell carcinoma: quest for improvement". Annals of Translational Medicine. 7 (S1): S18–S18. doi:10.21037/atm.2019.01.50. ISSN 2305-5839.
45. ^ Motzer, Robert J.; Jonasch, Eric; Agarwal, Neeraj; Bhayani, Sam; Bro, William P.; Chang, Sam S.; Choueiri, Toni K.; Costello, Brian A.; Derweesh, Ithaar H.; Fishman, Mayer; Gallagher, Thomas H. (2017-06-01). "Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology". Journal of the National Comprehensive Cancer Network. 15 (6): 804–834. doi:10.6004/jnccn.2017.0100. ISSN 1540-1405. PMID 28596261.
46. ^ "Kidney Cancer (Adult) – Renal Cell Carcinoma" (PDF). American Cancer Society. Archived from the original (PDF) on 2017-02-22. Last Revised: May 16, 2016
47. ^ "Early stage and locally advanced kidney cancer treatment". 2017-08-30.
48. ^ "Advanced kidney cancer". 2017-08-30.
49. ^ "Renal cancer".
50. ^ "National Comprehensive Cancer Network" (PDF).
51. ^ "Biological therapy for kidney cancer". 2017-08-30.
52. ^ Jonasch, Eric; Messner, Carolyn (August 2012). "CancerCare Connect – Treatment Update: Kidney Cancer" (PDF). Cancer Care, Inc. Archived from the original (PDF) on 2011-09-25. Retrieved 2012-08-29.
53. ^ a b Syn, Nicholas L; Teng, Michele W L; Mok, Tony S K; Soo, Ross A (2017). "De-novo and acquired resistance to immune checkpoint targeting". The Lancet Oncology. 18 (12): e731–e741. doi:10.1016/s1470-2045(17)30607-1. PMID 29208439.
54. ^ "FDA approves Opdivo to treat advanced form of kidney cancer".
55. ^ Philips, GK; Atkins, MB (2014). "New agents and new targets for renal cell carcinoma". American Society of Clinical Oncology Educational Book / ASCO. American Society of Clinical Oncology. Meeting. 34 (34): e222-7. doi:10.14694/EdBook_AM.2014.34.e222. PMID 24857106.
56. ^ "Drugs@FDA: FDA Approved Drug Products".
57. ^ http://www.accessdata.fda.gov/drugsatfda_docs/label/2016/208692s000lbl.pdf
58. ^ http://www.accessdata.fda.gov/drugsatfda_docs/label/2015/206947s000lbl.pdf
59. ^ a b "Wilms' tumour (kidney cancer in children)". 2017-08-30. Archived from the original on 2012-04-06.
60. ^ Lindblad, P. and Adami H.O, Kidney Cancer, in Textbook of Cancer.
61. ^ GLOBOCAN 2002, Cancer Incidence, Mortality and Prevalence Worldwide 2002 estimates. 2006.
62. ^ "Cancer of the Kidney and Renal Pelvis – SEER Stat Fact Sheets". National Cancer Institute, U.S. National Institutes of Health. Retrieved 2013-02-07.
63. ^ Lynch, Charles F.; West, Michele M.; Davila, Jessica A.; Platz, Charles E. (2007). "Chapter 24: Cancers of the Kidney and Renal Pelvic". In Ries, LAG; Young, JL; Keel, GE; Eisner, MP; Horner, M-J (eds.). SEER Survival Monograph: Cancer Survival Among Adults: US SEER Program, 1988–2001, Patient and Tumor Characteristics. SEER Program. NIH Pub. No. 07-6215. Bethesda, MD: National Cancer Institute. pp. 193–202. Archived from the original on 2013-10-10.
64. ^ Ferlay J, et al. (2007). "Estimates of the cancer incidence and mortality in Europe in 2006". Annals of Oncology. 18 (3): 581–92. doi:10.1093/annonc/mdl498. PMID 17287242.
65. ^ "Kidney cancer statistics". Cancer Research UK. Retrieved 27 October 2014.
## External links[edit]
Classification
D
* ICD-10: C64 to C66
* ICD-9-CM: 189
* ICD-O: M8070/3
* MeSH: D007680
External resources
* Patient UK: Kidney cancer
* v
* t
* e
Tumors of the urinary and genital systems
Kidney
Glandular and epithelial neoplasm
* Renal cell carcinoma
* Renal oncocytoma
Mixed tumor
* Wilms' tumor
* Mesoblastic nephroma
* Clear-cell sarcoma of the kidney
* Angiomyolipoma
* Cystic nephroma
* Metanephric adenoma
by location
* Renal medullary carcinoma
* Juxtaglomerular cell tumor
* Renal medullary fibroma
Ureter
* Ureteral neoplasm
Bladder
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Inverted papilloma
Urethra
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma
* Melanoma
Other
* Malignant fibrous histiocytoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Kidney cancer
|
c0022665
| 28,187 |
wikipedia
|
https://en.wikipedia.org/wiki/Kidney_cancer
| 2021-01-18T19:08:26 |
{"mesh": ["D007680"], "umls": ["C1378703", "C0740457", "C0494158", "C0022665"], "wikidata": ["Q3242950"]}
|
Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate and body temperature (hyperthermia), abnormally fast breathing, muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). Without prompt treatment and cessation of the drugs, the body's reaction can cause multiple organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be life-threatening. (In medicine, the term malignant refers to conditions that are dangerous to one's health.)
People at increased risk of this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they have a severe reaction to anesthesia during a surgical procedure or they undergo testing (for instance, if susceptibility is suspected because a family member had a severe reaction). Malignant hyperthermia may not occur every time anesthesia is used. Many individuals who develop a severe reaction have previously been exposed to a triggering drug and not had a reaction.
Affected individuals may be at increased risk for "awake" malignant hyperthermia, in which the severe reaction occurs in response to physical activity, often while sick, rather than in reaction to exposure to a triggering drug.
While malignant hyperthermia often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with malignant hyperthermia susceptibility.
## Frequency
Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that would trigger a reaction and bring them to medical attention.
## Causes
Certain variations of the RYR1 and CACNA1S genes increase the risk of developing malignant hyperthermia. Mutations in the RYR1 gene account for most cases of malignant hyperthermia susceptibility, while mutations in the CACNA1S gene cause less than 1 percent of all cases of malignant hyperthermia susceptibility.
The RYR1 and CACNA1S genes provide instructions for making proteins that play essential roles in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain charged atoms (ions) in muscle cells. The proteins produced from the RYR1 and CACNA1S genes are involved in the movement of calcium ions within muscle cells. In response to certain signals, the CACNA1S protein helps turn on (activate) the RYR1 channel. When the RYR1 channel is active, it releases calcium ions from storage into the fluid-filled space inside muscle cells. The resulting increase in calcium ion concentration inside the cells stimulates muscles to contract.
Mutations in the RYR1 or CACNA1S gene cause the RYR1 channel to open more easily and close more slowly in response to certain drugs. As a result, abnormally large amounts of calcium ions are released from storage within muscle cells. The abnormal increase in calcium ion concentration within muscle cells activates processes that generate heat (leading to increased body temperature) and produce excess acid (leading to acidosis). An overabundance of calcium ions also causes skeletal muscles to contract, which leads to muscle rigidity.
Up to half of people with malignant hyperthermia susceptibility do not have a mutation in one of the known genes. The causes of these cases are still under study.
### Learn more about the genes associated with Malignant hyperthermia
* CACNA1S
* RYR1
## Inheritance Pattern
Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also at risk for the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Malignant hyperthermia
|
c2930980
| 28,188 |
medlineplus
|
https://medlineplus.gov/genetics/condition/malignant-hyperthermia/
| 2021-01-27T08:25:05 |
{"gard": ["8433", "6964"], "mesh": ["C535694"], "omim": ["145600", "154275", "154276", "600467", "601887", "601888"], "synonyms": []}
|
Absent adrenal gland
This condition indicates absence of a adrenal gland
SpecialtyMedical genetics
Absent adrenal gland is a rare condition where the adrenal gland is absent at birth.[1] It should not be confused with adrenal insufficiency or congenital adrenal hyperplasia, where the gland is present but may not be functioning adequately.
Due to the absence of adrenal cortex, the condition causes extreme symptoms of adrenal insufficiency at birth due to very low levels of aldosterone and cortisol. The adrenal medulla can be normally present, poorly formed, or absent, however even so the effects of circulatory catecholamine deficiency are generally mild (due to sympathetic nervous system compensation), except in episodes of hypoglycemia.[2]
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Genetics[edit]
SF-1 plays a role in the development of adrenal gland. Single gene polymorphism involving SF-1 gene may have a role in adrenal gland agenesis.[1] Various other factors have also been identified.[3][4][5][6]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (November 2017)
## References[edit]
1. ^ a b Vachharajani A, Bethin K, Mouillet JF, Sadovsky Y, Saunders S (February 2006). "The rare occurrence of absent adrenals in a term infant: a case report and review of the literature". Am J Perinatol. 23 (2): 111–4. doi:10.1055/s-2006-931911. PMID 16506117.
2. ^ Fung, M. M.; Viveros, O. H.; O’Connor, D. T. (16 November 2007). "Diseases of the adrenal medulla". Acta Physiologica. 192 (2): 325–335. doi:10.1111/j.1748-1716.2007.01809.x. PMC 2576282. PMID 18021328.
3. ^ Else, T; Hammer, GD (December 2005). "Genetic analysis of adrenal absence: agenesis and aplasia". Trends in Endocrinology and Metabolism. 16 (10): 458–468. doi:10.1016/j.tem.2005.10.004. PMID 16275119. S2CID 32644554.
4. ^ Sethuraman, C; Parker, MJ; Quarrel, O; Rutter, S; de Krijger, RR; Drut, R; Cohen, MC (2011). "Bilateral absence of adrenal glands: a case series that expands the spectrum of associations and highlights the difficulties in prenatal diagnosis". Fetal and Pediatric Pathology. 30 (2): 137–43. doi:10.3109/15513815.2010.519573. PMID 21391755. S2CID 19435202.
5. ^ Cohen MM, Jr (January 2010). "Hedgehog signaling: endocrine gland development and function". American Journal of Medical Genetics Part A. 152A (1): 238–44. doi:10.1002/ajmg.a.32917. PMID 20013843. S2CID 878642.
6. ^ Pakravan, P; Kenny, FM; Depp, R; Allen, AC (January 1974). "Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period". The Journal of Pediatrics. 84 (1): 74–8. doi:10.1016/S0022-3476(74)80556-1. PMID 12119960.
## External links[edit]
Classification
D
* ICD-10: Q89.1
* ICD-9-CM: 759.1
* v
* t
* e
Congenital endocrine disorders
Pituitary
* Congenital hypopituitarism
Thyroid
* Thyroid disease
* Persistent thyroglossal duct
* Thyroglossal cyst
* Congenital hypothyroidism
* Thyroid dysgenesis
* Thyroid dyshormonogenesis
* Pendred syndrome
Parathyroid
* Congenital absence of parathyroid
Adrenal
* Absent adrenal gland
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Absent adrenal gland
|
c0266273
| 28,189 |
wikipedia
|
https://en.wikipedia.org/wiki/Absent_adrenal_gland
| 2021-01-18T19:09:46 |
{"umls": ["C0266273"], "icd-9": ["759.1"], "icd-10": ["Q89.1"], "wikidata": ["Q4669713"]}
|
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Paternal uniparental disomy of chromosome 1
|
c4707800
| 28,190 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251004
| 2021-01-23T17:41:46 |
{"icd-10": ["Q99.8"], "synonyms": ["UPD(1)pat"]}
|
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
|
c4015067
| 28,191 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436166
| 2021-01-23T17:52:30 |
{"omim": ["616050"], "icd-10": ["E85.0"], "synonyms": ["NLRC4-related MAS", "NLRC4-related autoinflammatory syndrome with MAS", "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome", "NLRC4-related infantile enterocolitis-autoinflammatory syndrome", "NLRC4-related macrophage activation syndrome"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.
Mapping
### Association with Major Histocompatibility Locus on Chromosome 6p21
In linkage disequilibrium mapping of the MHC region in 80 British parent-offspring trios, Wei and Hemmings (2000) found that NOTCH4 (164951) was highly associated with schizophrenia. The A-to-G substitution in the promoter region and the (CTG)n repeat in exon 1 of NOTCH4 were considered possible candidate sites conferring susceptibility to schizophrenia.
Using all markers of NOTCH4 previously shown to be associated with schizophrenia, Sklar et al. (2001) found no evidence for an association in 3 independent family-based samples totaling 519 parent-offspring trios, and in a case-control sample derived from the same ethnic background as the original observation. Similarly, McGinnis et al. (2001) failed to replicate the reported association in a large sample of unrelated Scottish schizophrenics and controls, finding instead that each putative schizophrenia-associated allele in the study of Wei and Hemmings (2000) had a somewhat lower frequency in schizophrenics than in controls.
Stefansson et al. (2009) combined SNP data from several large genomewide scans and followed up the most significant association signals. They found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p22.1-p21.3. Stefansson et al. (2009) concluded that their findings implicating the MHC region are consistent with an immune component to schizophrenia risk. The T allele of the SNP rs6932590 in the MHC region achieved a P value of 1.4 x 10(-12).
The International Schizophrenia Consortium (2009) performed a genomewide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Using 2 analytic approaches, the consortium showed the extent to which common genetic variation underlies the risk of schizophrenia. The MHC complex was implicated, as noted by Stefansson et al. (2009), and the authors provided molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. They showed that this component also contributes to the risk of bipolar disorder, but not to several nonpsychiatric diseases.
Shi et al. (2009) demonstrated that schizophrenia is significantly associated with SNPs in the extended MHC complex region on chromosome 6. Shi et al. (2009) carried out a genomewide association study of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample of 2,681 cases and 2,653 controls of European ancestry, and then a metaanalysis of data from MGS, International Schizophrenia Consortium, and SGENE data sets. No MGS finding achieved genomewide statistical significance. In the metaanalysis of subjects of European ancestry (8,008 cases, 19,077 controls), significant association with schizophrenia was observed in a region of linkage disequilibrium on chromosome 6p22.1 at rs13194053 with a p = 9.54 x 10(-9). This region includes a histone gene cluster and several immunity-related genes.
For discussion of the contribution of the C4 locus on chromosome 6p21 to schizophrenia risk, see MOLECULAR GENETICS.
### Association with Variation in the DTNBP1 gene on Chromosome 6p22.3
Straub et al. (2002) performed family-based association analysis of 36 simple sequence length polymorphism markers and 17 SNP markers implicating 2 regions, separated by approximately 7 Mb, in the 6p24-p21 region. Straub et al. (2002) focused on one of these regions, 6p22.3, and found that SNPs within the DTNBP1 gene (607145) were strongly associated with schizophrenia.
Kendler et al. (1996) gave a detailed description of the Irish Study of High Density Schizophrenia Families (ISHDSF). Straub et al. (1995, 2002) presented evidence in support of linkage of SCZD to the region 6p24-p21 in the ISHDSF. Straub et al. (2002) described the results of family-based association analysis of simple sequence-length polymorphism (SSLP) markers on chromosome 6p and additional analysis of SNP markers in 6p22.3 and of SNP haplotypes. They reported finding genetic variation in the DTNBP1 gene, encoding dysbindin, that was associated with schizophrenia and related phenotypes.
Van Den Bogaert et al. (2003) investigated the DTNBP1 gene in 3 samples of subjects with schizophrenia and unaffected control subjects of German, Polish, and Swedish descent. They identified significant evidence of association of a 5-marker haplotype (ACATT) in the Swedish sample but not in those from Germany or Poland. The results in the Swedish sample became even more significant after a separate analysis of those cases with a positive family history of schizophrenia (p = 0.00009).
Schwab et al. (2003) tested 6 of the most positive DNA polymorphisms in the DTNBP1 gene identified in a sib-pair sample and in an independently ascertained sample of triads (both parents and 1 child) with schizophrenia comprising 203 families, including families for which linkage on chromosome 6p was detected. Evidence of association was observed in the 2 samples separately as well as in the combined sample. Multilocus haplotype analysis increased the significance further. Estimation of frequencies for 6-locus haplotypes revealed 1 common haplotype with a frequency of 73.4% in transmitted, and only 57.6% in nontransmitted, parental haplotypes. All other 6-locus haplotypes occurring at a frequency of more than 1% were less often transmitted than nontransmitted.
To investigate the association between DTNBP1 and schizophrenia, Williams et al. (2004) performed a case-control association study using a sample from Cardiff, Wales, comprising 708 subjects meeting DSM-IV criteria for schizophrenia who were individually matched for age, sex, and ethnicity to 711 controls and a second sample from Dublin, Ireland, comprising 219 subjects meeting DSM-III-R criteria for schizophrenia or schizoaffective disorder and 231 controls. In the Cardiff sample, Williams et al. (2004) found no association between schizophrenia and previously implicated haplotypes (Straub et al., 2002; Schwab et al., 2003), but strong evidence for association with multiple novel haplotypes with maximum evidence for a novel 3-marker haplotype (SNPs P1655, P1635, and 'A') (global p less than 0.001), composed of 1 risk haplotype (p = 0.01) and 2 protective haplotypes (p = 0.006 and p less than 0.001, respectively). These risk and protective haplotypes were replicated in the Dublin sample with p = 0.02, 0.047, and 0.006, respectively.
Bray et al. (2005) reanalyzed the data reported by Williams et al. (2004) and showed that a defined schizophrenia risk haplotype consisting of 1 or more cis-acting variants resulted in a relative reduction in DTNBP1 mRNA expression in human cerebral cortex. Subsidiary analyses suggested that risk haplotypes identified in other sample groups of white European ancestry also may index lower DTNBP1 expression, whereas putative 'protective' haplotypes index high DTNBP1 expression. The authors concluded that variation in the DTNBP1 gene may confer susceptibility to schizophrenia through reduced expression.
Funke et al. (2004) analyzed 7 DTNBP1 SNPs initially described by Straub et al. (2002) in a cohort of 524 individuals with schizophrenia or schizoaffective disorder and 573 control subjects. The minor alleles of 3 SNPs, P1578 (1578C/T, rs1018381), P1763 (1763A/C, rs2619522), and P1765 (1765G/A, rs2619528), were positively associated with the diagnosis of schizophrenia or schizoaffective disorder in the white subset of the study cohort, with P1578 showing the most significant association. The same 3 SNPs were also associated in a smaller Hispanic subset. No association was observed in the African American subset.
In a Japanese sample of 670 patients with schizophrenia and 588 controls, Numakawa et al. (2004) found strong evidence for association in a 2-marker haplotype in DTNBP1 (SNPs P1635 and P1325; P = 0.00028).
Li et al. (2005) studied 638 nuclear families from the Han Chinese population of Sichuan Province with at least 1 member with schizophrenia as well as 580 Scottish schizophrenia patients and 620 controls. The samples were genotyped for 10 SNPs in DTNBP1 plus rs2619538 (SNP 'A') located in the promoter region of the gene. In the Chinese trios, 2 SNPs, P1635 and P1765, were significantly overtransmitted, but these alleles were opposite of those reported in other studies. SNPs P1757 and P1765 formed a common haplotype which also showed significant overtransmission. In the Scottish patients and controls, no individual markers were significantly associated with schizophrenia. A single haplotype, which included rs2619538 and P1583, and 1 rare haplotype, composed of P1320 and P1757, were significantly associated with schizophrenia, but no previously reported haplotypes were associated. Thus, the data from the Chinese population support a role for DTNBP1 as a susceptibility gene for schizophrenia, but with haplotypes different from those previously observed. The lack of replication in the Scottish samples also indicates that caution is warranted when evaluating the robustness for evidence of DTNBP1 as a genetic risk factor for schizophrenia.
DeRosse et al. (2006) studied 181 Caucasian patients with schizophrenia for association of negative symptoms with risk haplotypes of DTNBP1 (607145). They found a significant association between lifetime severity of negative symptoms of schizophrenia and the CTCTAC haplotype overrepresented in the sample described by Funke et al. (2004). The authors speculated that given evidence that the dysbindin genotype influences glutamatergic function, this genotype may exert its effects on negative symptoms through a glutamate receptor-related mechanism.
Kohn et al. (2004) used identity by descent haplotype sharing analysis in a study of 52 patients with major psychiatric disorders from a genetically isolated village in Israel. Analysis of 8 Y chromosome markers confirmed that this isolate had a common paternal origin. Analysis of 359 microsatellite markers on 9 candidate chromosomes identified 2 significant peaks of haplotype sharing (p less than 0.0001): one for psychotic patients with any diagnosis located in the region of the dysbindin gene (DTNBP1) and the other for patients with schizophrenia on chromosome 1p32.
Mutsuddi et al. (2006) noted that since the original association study in Irish pedigrees implicating DTNBP1 as a schizophrenia susceptibility gene (Straub et al., 2002), several replication studies reported confirmation of the association in independent European samples; however, reported risk alleles and haplotypes appeared to differ between studies, and comparison among studies was confounded because different marker sets were employed by each group. To facilitate evaluation of existing evidence of association and further work, Mutsuddi et al. (2006) supplemented the extensive genotype data, available through the International HapMap Project, about DTNBP1 by specifically typing all associated SNPs reported in each of the studies of the CEPH-derived HapMap sample (CEU). Using this high-density reference map, they compared the putative disease-associated haplotype from each study and found that the association studies are inconsistent with regard to the identity of the disease-associated haplotype at DTNBP1. Specifically, all 5 'replication' studies defined a positively associated haplotype that is different from the association originally reported. Mutsuddi et al. (2006) further demonstrated that, in all 6 studies, the European-derived populations studied have haplotype patterns and frequencies that are consistent with HapMap CEU samples (and each other). Thus, they considered it unlikely that population differences are creating the inconsistency of the association studies. They concluded that the evidence of association was equivocal and unsatisfactory.
Allen et al. (2008) performed a metaanalysis comparing 2,696 Caucasian patients with schizophrenia with 2,849 controls and found that the P1325 allele (rs1011313) in the DTNBP1 gene was associated with susceptibility to schizophrenia (OR, 1.23; 95% CI, 1.07-1.40; p = 0.003). According to the Venice guidelines for the assessment of cumulative evidence in genetic association studies (Ioannidis et al., 2008), the DTNBP1 association showed a 'strong' degree of epidemiologic credibility.
### Association with Other Regions of Chromosome 6
Wang et al. (1995) presented evidence for a schizophrenia susceptibility locus (SSL) on 6pter-p22. They performed linkage analysis in 186 multiplex families. Assuming locus homogeneity and using a model with partially dominant inheritance and moderately broad disease definition, they obtained a lod score of 3.2 for D6S260 on 6p23. A multipoint lod score of 3.9 was obtained when the F13A1 and D6S260 loci were analyzed, allowing for locus heterogeneity. The nonparametric affected pedigree test provided results that also supported the 6p23 assignment. In general, Wang et al. (1995) concluded that the data supported a model of locus heterogeneity.
Straub et al. (1995) presented the results of linkage analysis in 265 pedigrees using 16 6p markers; the 186 pedigrees tested with 7 markers by Wang et al. (1995) were a subset of the pedigrees reported by Straub et al. (1995). The full data supported the presence of a vulnerability locus for schizophrenia on 6p24-p22. The greatest lod score, assuming locus heterogeneity, was 3.51 with D6S296. This locus appeared to influence vulnerability to schizophrenia in 15 to 30% of the pedigrees. Schwab et al. (1995) performed multipoint affected sib-pair linkage analysis scanning 6p in 54 families ascertained in 2 regions of Germany (43 families) and in Israel (11 Sephardic Jewish families). Positive lod scores were obtained over a wide region with a maximum lod score of 2.2 occurring near D6S274 where a positive lod score had been reported also by Straub et al. (1995). A combined total lod for the 2 studies of 3.6 to 4.0 supported the presence of a susceptibility locus in this region.
In a follow-up study of 10 of 26 loci previously found to be suggestive of linkage in an Icelandic population, Moises et al. (1995) found evidence of linkage to markers in 6p, 9, and 20 in a second group of schizophrenic patients drawn from Austria, Canada, Germany, Italy, Scotland, Sweden, Taiwan, and the US. Evidence of linkage to markers distal to the HLA region on 6p was found in a third population of Chinese schizophrenics.
In a follow-up of previously positive results at the Johns Hopkins Hospital and at the University of Virginia, a consortium of 14 research centers assembled a new sample of some 500 informative pedigrees in which they found supportive, but inconclusive evidence for a schizophrenia susceptibility locus on chromosome 6, with an affected sib-pair maximum lod score of 2.19 (nominal p = 0.001) (Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6, and 8, 1996).
In a sample of 211 families ascertained on the basis of having an affected sib-pair diagnosed with schizophrenia or schizoaffective disorder, Garner et al. (1996) found no evidence for linkage to markers spanning 37 cM around 6p24.
Wang et al. (1996) reported evidence for linkage disequilibrium between schizophrenia and the ATXN1 (601556) CAG repeat. The study was undertaken because of the report by several groups of linkage between a schizophrenia-susceptibility gene and markers on 6p. The authors suggested that, if the evidence of linkage disequilibrium with the ATXN1 gene is valid, this narrows substantially the region containing the gene, since linkage disequilibrium may be detectable over regions much smaller than those implicated by linkage analyses. In the second place, given the known biologic function of the ATXN1 gene in the brain and the possible relevance of anticipation and CAG repeat expansion in some rare cases of schizophrenia, ATXN1 may become a promising candidate for schizophrenia.
Using 9 microsatellite markers spanning 40 cM around 6p24-p22, Daniels et al. (1997) found no evidence of allele sharing identity by descent in a sample of 102 sib pairs from 86 families.
In 1 of 18 pedigrees studied, Maziade et al. (1997) found lod scores of 2.49 and 2.15, respectively, at the D6S296 and D6S277 loci under a dominant model when schizophrenia, schizoaffective disorder, and bipolar disease were used as criteria of affected status. This provides further evidence that these 3 disorders may share some susceptibility loci. (See possibly related susceptibility loci for both schizophrenia and bipolar spectrum disorders on 18p (125480; 603206) and 22q11 (192430).) In a study of 10 Canadian kindreds of Celtic origin, Brzustowicz et al. (1997) found no evidence of linkage of 6p markers to an either narrowly or broadly defined schizophrenia phenotype under a dominant or a recessive model. However, they found significant association with D6S1960 (p = 1.2 x 10(-5) under 2-point and p = 5.4 x 10(-6) under multipoint analyses) and quantitative scores on a scale for positive (psychotic) symptoms. This suggested that a locus on 6p may be associated with severity of psychotic symptoms.
In a multicenter study of 42 sib pairs with either schizophrenia or schizoaffective disorder drawn from 30 nuclear African American nuclear families, Kaufmann et al. (1998) found that several regions, including chromosomes 6q16-q24, 8pter-q12, 9q32-q34, and 15p13-q12, showed evidence consistent with linkage (p = 0.01-0.05). However, neither these nor any of the other 459 short-tandem repeat markers in this genomewide scan showed evidence of significant linkage by the criteria of Lander and Kruglyak (1995).
To facilitate the identification of candidate genes for schizophrenia, celiac disease (see 212750), and orofacial clefting (see 119530) previously assigned to the 6p25-p23 region, Olavesen et al. (1997) sublocalized and ordered 39 ESTs that had been assigned to this interval by radiation hybrid mapping. Most of the ESTs (31 of 39) were positioned in the 6p24-p23 interval, and of these, 8 were located within a single PAC clone.
By a novel phenotyping strategy in schizophrenia, targeting different neurocognitive domains, neurobehavioral features, and selected personality traits, Hallmayer et al. (2005) succeeded in identifying a homogeneous familial subtype of the disease characterized by pervasive neurocognitive deficit. Their genome scan data indicated that this subtype, which accounted for up to 50% of their sample, had a distinct genetic basis and explained linkage to 6p24 previously reported. If representative of other samples, the ratio of schizophrenia subtypes observed in their families could have a profound impact on sample heterogeneity and on the power of genetic studies to detect linkage and association. They proposed an abbreviated battery of tests to facilitate phenotype characterization for genetic analyses and allow a focus on a crisply defined schizophrenia subtype, thus promoting a more informed search for susceptibility genes. In the study of Hallmayer et al. (2005), 2 pure types, referred to as 'cognitive deficit' (CD) and 'cognitively spared' (CS), displayed markedly contrasting test profiles. The CD pure type was characterized by a high probability of poor performance on the majority of cognitive tasks, an increase of prevalence of nonlocalizing ('soft') neurologic signs, and non-right-handedness. The CS pure type exhibited high scores for psychometric schizotypy and for traits associated with psychosis proneness.
In studies of cultured fibroblasts from patients with schizophrenia, Gysin et al. (2007) found 26% decreased GCL activity, and 29% GCLC protein expression under stressed conditions compared to control cells. GSH content was not significantly different between the 2 groups. Two independent studies of 66 Swiss patients and 322 Danish patients showed an association between schizophrenia and a trinucleotide GAG repeat polymorphism, with 7, 8 or 9 repeats, located 10 bp upstream from the start codon. The most common genotype 7/7 was more frequent in controls, whereas the rarest genotype 8/8 was up to 3 times more frequent in patients. Patients with disease-associated genotypes, including 7/8, 8/8, 8/9, and 9/9, had decreased GCL activity, GCLC protein, and GSH content compared to individuals with the protective genotypes 7/7 and 7/9. There was no correlation between genotype and GCLC gene expression at the mRNA level, suggesting that the trinucleotide repeat polymorphism may affect mRNA transport or translation.
Molecular Genetics
The functionally distinct C4A (120810) and C4B (120820) genes, located on chromosome 6p21.3 in the MHC locus, vary in structure and copy number, and segregate in both long (L) and short (S) genomic forms distinguished by the presence or absence of a HERV insertion in intron 9 that does not change the protein sequence. In postmortem human adult brain samples, Sekar et al. (2016) found that C4 RNA expression was directly proportional to C4 copy number; that expression levels of C4A were 2 to 3 times greater than levels for C4B, even after controlling for relative copy number; and that copy number of the C4-HERV sequence increased the ratio of C4A to C4B expression. Sekar et al. (2016) characterized the structural variation of human C4 genes (C4A and C4B) and evaluated association to over 7,000 SNPs across the extended MHC locus (chr6:25-34 Mb), C4 structural alleles, and HLA sequence polymorphisms in 28,799 schizophrenia cases and 35,986 controls. They found an association of schizophrenia with a large set of similarly associating SNPs in the distal 2 Mb of the MHC, the most strongly associated being rs13194504 (p = 5.5 X 10(-28)). The other peak of association centered at the C4 locus, where schizophrenia associated most strongly with the genetic predictor of C4A expression levels (p = 3.6 X 10(-24)). These peaks had little correlation with each other, suggesting they reflect distinct genetic influences. The more strongly a SNP correlated with predicted C4A expression, the more strongly it associated with schizophrenia. Sekar et al. (2016) compared C4A RNA expression levels in brain tissue from 35 patients with schizophrenia and 70 individuals without schizophrenia, and found that median C4A expression in patient tissue was 1.4-fold greater (p = 2 x 10(-5)) and was elevated in each of 5 brain regions assayed. The relationship remained significant after controlling for higher average C4A copy number among patients. Studies in mice demonstrated defects in synaptic remodeling in C4-deficient mice. Sekar et al. (2016) concluded that association of schizophrenia with the MHC locus on chromosome 6p21.3 involves many common, structurally distinct C4 alleles that affect expression of C4A and C4B in the brain, with each allele associated with schizophrenia risk in proportion to its effect on C4A expression.
History
Marshall (1995) suggested that the report by Wang et al. (1995) 'may say as much about problems of scientific collaboration as about the biology of the disease.' Scott R. Diehl, the senior author of Wang et al. (1995) (who in accordance with the tradition of the times was listed last), had a falling out with collaborators in Virginia who had previously initiated the studies of inherited schizophrenia in Ireland. Diehl had obtained DNA and diagnostic information from psychiatrists in Ireland who were not included in the authorship.
Neuro \- Schizophrenia Inheritance \- Autosomal dominant susceptibility (6p23) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SCHIZOPHRENIA 3
|
c1838069
| 28,192 |
omim
|
https://www.omim.org/entry/600511
| 2019-09-22T16:16:06 |
{"omim": ["600511"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA 3 WITH OR WITHOUT AN AFFECTIVE DISORDER", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED"]}
|
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
|
None
| 28,193 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85172
| 2021-01-23T17:33:20 |
{"omim": ["618150"], "icd-10": ["Q78.8"]}
|
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cap myopathy
|
c3710589
| 28,194 |
gard
|
https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy
| 2021-01-18T18:01:38 |
{"mesh": ["C579969"], "orphanet": ["171881"], "synonyms": ["Cap disease", "Congenital myopathy with caps"]}
|
A number sign (#) is used with this entry because this form of autosomal dominant ALS is caused by mutation in the FIG4 gene (609390).
Autosomal recessive Charcot-Marie Tooth disease type 4J (CMT4J; 611228) is an allelic disorder with a much more severe phenotype.
For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Clinical Features
Chow et al. (2009) reported 5 unrelated patients diagnosed with probable or definite ALS. Two had a family history of the disorder. All had adult onset and showed prominent corticospinal tract findings. Nerve conduction velocity studies were normal, but EMG studies showed some denervation.
Molecular Genetics
In 5 unrelated patients with amyotrophic lateral sclerosis, Chow et al. (2009) identified heterozygosity for a missense, 2 splice site, and 2 truncating mutations in the FIG4 gene (see, e.g., 609390.0006-609390.0008). The mutations were shown to result in complete or highly significant loss of protein function. Five different missense FIG4 mutations were identified in 5 patients with a diagnosis of ALS or adult-onset primary lateral sclerosis (PLSA1; 611637), but these mutations were not clearly shown to be pathogenic.
INHERITANCE \- Autosomal dominant MUSCLE, SOFT TISSUES \- Atrophic fibers seen on biopsy (in 1 patient) NEUROLOGIC Central Nervous System \- Bulbar signs \- Prominent corticospinal tract pathology \- Denervation seen on EMG \- Pseudobulbar affect MISCELLANEOUS \- Average age of onset 56 years \- Median disease duration 2.6 years (two patients had disease duration greater than 20 years) MOLECULAR BASIS \- Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
AMYOTROPHIC LATERAL SCLEROSIS 11
|
c0002736
| 28,195 |
omim
|
https://www.omim.org/entry/612577
| 2019-09-22T16:01:06 |
{"doid": ["0060202"], "mesh": ["D000690"], "omim": ["612577"], "orphanet": ["803"], "genereviews": ["NBK1450"]}
|
A number sign (#) is used with this entry because of evidence that mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (MC5DN2) can be caused by homozygous or compound heterozygous mutation in the TMEM70 gene (612418) on chromosome 8q21.
For a general phenotypic description of the nuclear type of mitochondrial complex V deficiency and a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see 604273.
Clinical Features
Cizkova et al. (2008) reported 8 children from 6 Romani Gypsy families with neonatal mitochondrial encephalocardiomyopathy associated with ATP synthase deficiency. Clinical features included psychomotor retardation, microcephaly, hypotonia, growth retardation, hypertrophic cardiomyopathy, dysmorphism, hypospadias, lactic acidosis, and 3-methylglutaconic aciduria.
Spiegel et al. (2011) reported 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2. All patients presented either in utero or in the first days of life. Early features included oligohydramnios, early delivery, intrauterine growth retardation, and neonatal hypotonia. Other prominent features included hypertrophic cardiomyopathy, psychomotor retardation, lactic acidosis, and increased urinary 3-methylglutaconic aciduria. Most had dysmorphic facial features, including flat occiput, long philtrum, and low-set ears. Some had respiratory insufficiency in the neonatal period. Three patients had a severe neonatal course marked by lactic acidosis, encephalopathy, and multiorgan failure leading to death in the first week of life. One patient died at age 3 years. Five patients had gastrointestinal abnormalities, including delayed gastric emptying and pseudoobstruction. Two brothers had cataracts. Skeletal muscle complex V deficiency was reduced to less than 30% of control values.
Catteruccia et al. (2014) reported 9 children from 8 families with MC5DN2 confirmed by genetic analysis. Five of the families were of Roma origin. All patients presented at birth with severe hypotonia associated with lactic acidosis, hyperammonemia, and increased urinary 3-MGA. Five of the children developed persistent pulmonary arterial hypertension in the neonatal period, requiring intubation and mechanical respiration. Eight patients had hypertrophic cardiomyopathy, which was apparent in the neonatal period or within the first 8 months of life, and 5 developed cardiac arrhythmias. All had delayed psychomotor development and poor overall growth. Only 2 had a seizure disorder. More variable features included facial dysmorphism, cryptorchidism, leukoencephalopathy on brain imaging, and cerebellar atrophy.
Molecular Genetics
In affected individuals from 6 Romani Gypsy families with neonatal mitochondrial encephalocardiomyopathy associated with ATP synthase deficiency, Cizkova et al. (2008) identified a homozygous splice site mutation in the TMEM70 gene (c.317-2A-G; 612418.0001).
The same homozygous mutation was identified in 23 additional patients. Cooccurrence of cases with severe and milder phenotypes with the same mutation was thought to represent varying quality and functionality of individual nonsense-mediated RNA decay systems.
In 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2, Spiegel et al. (2011) identified 4 different homozygous mutations in the TMEM70 gene (see, e.g., 612418.0003-612418.0005).
In 9 children from 8 families with MC5DN2, Catteruccia et al. (2014) identified homozygous or compound heterozygous mutations in the TMEM70 gene. Six patients were homozygous for the common c.317-2A-G splice site mutation.
INHERITANCE \- Autosomal recessive GROWTH Weight \- Low birth weight Other \- Intrauterine growth retardation (IUGR) \- Failure to thrive \- Poor growth HEAD & NECK Head \- Flat occiput Face \- Long philtrum \- Microretrognathia \- Flat face Ears \- Low-set ears Eyes \- Cataract (in 2 brothers) Nose \- Broad nasal bridge \- Upturned nares Mouth \- Thin, flat upper lip CARDIOVASCULAR Heart \- Hypertrophic cardiomyopathy \- Arrhythmias RESPIRATORY \- Persistent pulmonary hypertension of the newborn \- Respiratory insufficiency at birth ABDOMEN External Features \- Umbilical hernia \- Inguinal hernia Gastrointestinal \- Delayed gastric emptying \- Pseudoobstruction GENITOURINARY External Genitalia (Male) \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism MUSCLE, SOFT TISSUES \- Decreased mitochondrial complex V activity NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Psychomotor retardation \- Encephalopathy, episodic, associated with febrile illnesses \- Hypotonia \- Seizures (uncommon) \- Ataxia in those who survive \- Intention tremor in those who survive \- Leukoencephalopathy METABOLIC FEATURES \- Lactic acidosis PRENATAL MANIFESTATIONS Amniotic Fluid \- Oligohydramnios Delivery \- Premature delivery LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased serum alanine \- Hyperammonemia \- 3-methylglutaconic aciduria MISCELLANEOUS \- Onset at birth or in utero \- Early death may occur \- Variable features and severity MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 70 (TMEM70, 612418.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
|
c3279699
| 28,196 |
omim
|
https://www.omim.org/entry/614052
| 2019-09-22T15:56:41 |
{"doid": ["0060331"], "mesh": ["C567528"], "omim": ["614052"], "orphanet": ["1194"], "synonyms": ["Alternative titles", "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE", "ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY"]}
|
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Lethal recessive chondrodysplasia
|
c4304745
| 28,197 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1423
| 2021-01-23T18:07:53 |
{"gard": ["3399"], "icd-10": ["Q78.8"], "synonyms": ["Maroteaux-Stanescu-Cousin syndrome"]}
|
Lecithin cholesterol acyltransferase deficiency
Other namesLCAT deficiency
SpecialtyMedical genetics
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism.[1] The disease has two forms:[2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency.[3]
Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Types
* 3.2 Familial LCAT Deficiency Lab Findings
* 3.3 Fish-eye Disease Lab Findings
* 3.4 Genetic Findings in Fish-eye Disease
* 4 Treatment
* 5 Prognosis
* 6 References
* 7 External links
## Signs and symptoms[edit]
Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and kidney failure. Less common symptoms include atherosclerosis, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and enlarged lymph nodes.[4]
Fish-eye disease is less severe and most commonly presents with impaired vision due to corneal opacification. It rarely presents with other findings, although, atherosclerosis, hepatomegaly, splenomegaly, and lymphadenopathy can occur.[4] Carlson and Philipson found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish.[5]
If an individual only carries one copy of the mutated gene, they typically do not show symptoms.[6]
## Pathophysiology[edit]
A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Cholesterol effluxes from cells as free cholesterol and is transported in HDL as esterified cholesterol. LCAT is the enzyme that esterifies the free cholesterol on HDL to cholesterol ester and allows the maturation of HDL. LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apolipoprotein A1 and apolipoprotein A2. The remaining form of HDL resembles nascent HDL.
The LCAT glycoprotein produces lysophosphatidylcholine and cholesterol ester and binds to lipoproteins after being secreted by the liver.[5] Usually the enzyme produced is responsible for cholesterol ester formation and high density lipoprotein (HDL) metabolism, but in fish-eye disease the enzyme cannot esterify, or make the acid into an alkyl, cholesterol in HDL particles.[7] However, there is only a partial deficiency because the enzyme remains active on the cholesterol particles in very low density lipoproteins (VLDL) and low density lipoproteins (LDL).[7] The opaqueness of the eye is caused by the deposit of lipids onto the cornea.[7]
## Diagnosis[edit]
Definitive diagnosis requires LCAT gene analysis for mutation and functional activity. However, numerous lab tests may help with making a diagnosis such as complete blood count (CBC), urinalysis, blood chemistries, lipid panels, and plasma LCAT activity.[8]
Fish-eye disease is characterized by abnormalities like visual impairment, plaques of fatty material, and dense opacification.[5][7]
### Types[edit]
Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1.[7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency[9] and ~30 cases of fish-eye disease.[10]
### Familial LCAT Deficiency Lab Findings[edit]
* CBC: normochromic normocytic anemia
* Urinalysis: proteinuria in young adults (suggestive of kidney failure)
* Blood Chemistries: elevated blood urea nitrogen (BUN) and creatinine (suggestive of kidney failure)
* Lipid Panel: low high-density lipoprotein (HDL) < 10 mg/dL, elevated very low-density lipoprotein (VLDL) and triglycerides, high plasma unesterified cholesterol, and low plasma cholesterol ester
* Plasma LCAT activity: decreased (determined by decreased ability to esterify radioactive cholesterol in exogenous lipoproteins)
### Fish-eye Disease Lab Findings[edit]
* CBC: no anemia
* Urinalysis: no protein in the urine
* Blood Chemistries: normal blood urea nitrogen (BUN) and creatinine (no signs of kidney failure)
* Lipid Panel: low high-density lipoprotein (HDL) < 10 mg/dL, elevated very low-density lipoprotein (VLDL) and triglycerides, high plasma unesterified cholesterol in HDL particles, and low cholesterol ester in HDL particles but normal levels in low-density lipoprotein (LDL) and VLDL particles
* Plasma LCAT activity: decreased only in HDL particles but not LDL
### Genetic Findings in Fish-eye Disease[edit]
Mutations in the LCAT gene, which is localized in the q21–22 region of chromosome 16, cause fish-eye disease.[3] The mutation in the LCAT gene is homozygous for a Thr123→Ile mutation or Pro10→Leu mutation.[11] New mutations have been identified as homozygosity for an A2205→G nucleotide substitution in exon 4 of the LCAT gene which is predicted to be the cause of an Asp131→Asn substitution.[7]
## Treatment[edit]
Currently, there is no specific treatment to correct the LCAT deficiency so therapy is focused on symptom relief.[12] Corneal transplant may be considered for patients presenting with severely impaired vision caused by cholesterol corneal opacities. Dialysis may be required for patients presenting with kidney failure, and kidney transplant may be considered.
## Prognosis[edit]
Kidney failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity. These patients have low HDL cholesterol but surprisingly premature atherosclerosis is not seen. However, there are some reported cases.
## References[edit]
1. ^ Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (February 1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes". J. Lipid Res. 38 (2): 191–205. PMID 9162740.
2. ^ Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasc G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G (Sep 2005). "The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families". Arteriosclerosis, Thrombosis, and Vascular Biology. 25 (9): 1972–1978. doi:10.1161/01.ATV.0000175751.30616.13. ISSN 1079-5642. PMID 15994445.
3. ^ a b Koster, H; Savoldelli, M; Dumon, M. F.; Dubourg, L; Clerc, M; Pouliquen, Y (1992). "A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features". Cornea. 11 (5): 452–64. doi:10.1097/00003226-199209000-00016. PMID 1424675.
4. ^ a b "Lecithin-Cholesterol Acyltransferase Deficiency: Overview, Presentation, Differential Diagnosis". 2016-08-08. Cite journal requires `|journal=` (help)
5. ^ a b c Kuivenhoven, J. A.; Pritchard, H; Hill, J; Frohlich, J; Assmann, G; Kastelein, J (1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes". Journal of Lipid Research. 38 (2): 191–205. PMID 9162740.
6. ^ Kaneshiro, N.K. (2014). "Autosomal Recessive". National Institutes of Health, Medline Plus.
7. ^ a b c d e f Kuivenhoven, J. A.; van Voorst tot Voorst EJ; Wiebusch, H; Marcovina, S. M.; Funke, H; Assmann, G; Pritchard, P. H.; Kastelein, J. J. (1995). "A unique genetic and biochemical presentation of fish-eye disease". Journal of Clinical Investigation. 96 (6): 2783–91. doi:10.1172/JCI118348. PMC 185988. PMID 8675648.
8. ^ "Lecithin-Cholesterol Acyltransferase Deficiency: Overview, Presentation, Differential Diagnosis". 2016-08-08. Cite journal requires `|journal=` (help)
9. ^ Reference, Genetics Home. "complete LCAT deficiency". Genetics Home Reference. Retrieved 2016-12-11.
10. ^ Reference, Genetics Home. "fish-eye disease". Genetics Home Reference. Retrieved 2016-12-11.
11. ^ Contacos, C; Sullivan, D. R.; Rye, K. A.; Funke, H; Assmann, G (1996). "A new molecular defect in the lecithin: Cholesterol acyltransferase (LCAT) gene associated with fish eye disease". Journal of Lipid Research. 37 (1): 35–44. PMID 8820100.
12. ^ "Fish-eye disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17.
## External links[edit]
Classification
D
* ICD-10: E78.6
* ICD-9-CM: 272.5
* OMIM: 245900 136120
* MeSH: D007863
* DiseasesDB: 7343
* SNOMED CT: 238091006
External resources
* eMedicine: med/1270
* v
* t
* e
Inborn error of lipid metabolism: dyslipidemia
Hyperlipidemia
* Hypercholesterolemia/Hypertriglyceridemia
* Lipoprotein lipase deficiency/Type Ia
* Familial apoprotein CII deficiency/Type Ib
* Familial hypercholesterolemia/Type IIa
* Combined hyperlipidemia/Type IIb
* Familial dysbetalipoproteinemia/Type III
* Familial hypertriglyceridemia/Type IV
* Xanthoma/Xanthomatosis
Hypolipoproteinemia
Hypoalphalipoproteinemia/HDL
* Lecithin cholesterol acyltransferase deficiency
* Tangier disease
Hypobetalipoproteinemia/LDL
* Abetalipoproteinemia
* Apolipoprotein B deficiency
* Chylomicron retention disease
Lipodystrophy
* Barraquer–Simons syndrome
Other
* Lipomatosis
* Adiposis dolorosa
* Lipoid proteinosis
* APOA1 familial renal amyloidosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Lecithin cholesterol acyltransferase deficiency
|
c0023195
| 28,198 |
wikipedia
|
https://en.wikipedia.org/wiki/Lecithin_cholesterol_acyltransferase_deficiency
| 2021-01-18T18:53:40 |
{"mesh": ["D007863"], "umls": ["C0023195"], "icd-9": ["272.5"], "orphanet": ["79293"], "wikidata": ["Q3441028"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (September 2009) (Learn how and when to remove this template message)
Pellegrini–Stieda syndrome
Pellegrini-Stieda syndrome. Also visible is a fracture of the patella.
Pellegrine–Stieda syndrome (also called Stieda disease and Köhler–Pellegrine–Stieda disease) refers to the ossification of the superior part of the medial collateral ligament of the knee. It is a common incidental finding on knee radiographs. It is named for the Italian surgeon A. Pellegrini (b. 1877) and the German surgeon A. Stieda (1869–1945).[1]
## References[edit]
1. ^ Mohammad Diab (1999). Lexicon of Orthopaedic Etymology. Taylor & Francis. p. 380. ISBN 9789057025976.
## Further reading[edit]
* Altschuler, Eric L.; Bryce, Thomas N. (December 2006). "Images in clinical medicine. Pellegrini-Stieda syndrome". The New England Journal of Medicine. 354 (1): e1. doi:10.1056/NEJMicm040406. PMID 16394294.
* Wang, JC; Shapiro, MS (1995). "Pellegrini-Stieda syndrome". American Journal of Orthopedics. 24 (6): 493–7. PMID 7670873.
## External links[edit]
* Whonamedit.com
This human musculoskeletal system article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Pellegrini–Stieda syndrome
|
c0263930
| 28,199 |
wikipedia
|
https://en.wikipedia.org/wiki/Pellegrini%E2%80%93Stieda_syndrome
| 2021-01-18T18:40:04 |
{"umls": ["C0263930"], "wikidata": ["Q1625660"]}
|
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