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A malignant mixed müllerian tumor (MMMT), also called a carcinosarcoma, is a type of cancer that contains two types of cancer cells - carcinoma and sarcoma cells. These tumors usually develop in tissues of the female genital tract and are associated with a poor outcome. The majority of these tumors arise in the uterus, though they can also occur in the ovaries, fallopian tubes, and cervix. Very rarely, MMMTs can develop in the female peritoneum (lining of the abdominal wall).
*[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 mixed Mullerian tumor | c0206627 | 29,500 | gard | https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor | 2021-01-18T17:59:15 | {"mesh": ["D018200"], "synonyms": ["Mixed tumor, Mullerian", "Mixed Mullerian tumor", "Carcinosarcoma", "MMMT"]} |
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.
Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood.
Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age.
Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood.
Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.
## Frequency
Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals.
## Causes
Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. When digestion is complete and trypsin is no longer needed, the enzyme is broken down.
Some PRSS1 gene mutations that cause hereditary pancreatitis result in the production of a cationic trypsinogen enzyme that is prematurely converted to trypsin while it is still in the pancreas. Other mutations prevent trypsin from being broken down. These changes result in elevated levels of trypsin in the pancreas. Trypsin activity in the pancreas can damage pancreatic tissue and can also trigger an immune response, causing inflammation in the pancreas.
It is estimated that 65 to 80 percent of people with hereditary pancreatitis have mutations in the PRSS1 gene. The remaining cases are caused by mutations in other genes, some of which have not been identified.
### Learn more about the genes associated with Hereditary pancreatitis
* CFTR
* PRSS1
Additional Information from NCBI Gene:
* CTRC
* SPINK1
## Inheritance Pattern
When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
It is estimated that 20 percent of people who have the altered PRSS1 gene never have an episode of pancreatitis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene never develop signs and symptoms of the 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
| Hereditary pancreatitis | c0238339 | 29,501 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-pancreatitis/ | 2021-01-27T08:25:04 | {"gard": ["6632"], "mesh": ["C537262"], "omim": ["167800"], "synonyms": []} |
Facial onset sensory and motor neuronopathy (FOSMN) is a rare and slowly progressive motor neuron disorder. Affected people initially experience facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities are later followed by the onset of motor symptoms such as cramps, muscle twitches, difficulty swallowing, dysarthria, muscle weakness and atrophy. The hallmark of FOSMN is a reduced or absent corneal reflex (the reflex to blink when something touches the eye). The underlying cause is currently unknown. Most cases appear to occur sporadically in people with no family history of the condition. Although there is no consensus regarding the best treatment options for FOSMN, some affected people have temporary improvement in response to intravenous immunoglobulin or plasmapheresis.
*[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
| Facial onset sensory and motor neuronopathy | c4509818 | 29,502 | gard | https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy | 2021-01-18T18:00:37 | {"orphanet": ["85162"], "synonyms": ["FOSMN syndrome", "Facial onset sensorimotor neuronopathy syndrome", "Facial onset sensory and motor neuronopathy syndrome"]} |
Zaspopathy
Other namesLate-onset distal myopathy, Markesbery-Griggs type
Zaspopathy has an autosomal dominant pattern of inheritance.
Zaspopathy,[1] also called ZASP-related myofibril myopathy,[2] is a novel autosomal dominant[3] form of progressive muscular dystrophy, first described in 2005.
## Contents
* 1 Cause
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Cause[edit]
The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred to as ZASP.[3]
## Pathophysiology[edit]
The ZASP gene is located at chromosome 10, and encodes also-called Z-disk-associated protein.Mutation in this protein causes disintegration of the Z-disk of contractile elements (myofibrils) in muscle cells.[citation needed]
Mutations of several other Z-disk related proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy.[citation needed]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (August 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (August 2017)
## References[edit]
1. ^ Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B (Jun 2007). "Zaspopathy in a large classic late-onset distal myopathy family" (Free full text). Brain : A Journal of Neurology. 130 (Pt 6): 1477–1484. doi:10.1093/brain/awm006. PMID 17337483.
2. ^ Online Mendelian Inheritance in Man (OMIM): 609452
3. ^ a b Selcen D, Engel AG (Feb 2005). "Mutations in ZASP define a novel form of muscular dystrophy in humans". Annals of Neurology. 57 (2): 269–276. doi:10.1002/ana.20376. PMID 15668942. S2CID 25733755. Archived from the original on 2012-12-17.
## External links[edit]
* Online Mendelian Inheritance in Man (OMIM): LIM DOMAIN-BINDING 3; LDB3 - 605906 (gene)
Classification
D
* ICD-10: G71.8
* OMIM: 609452
* MeSH: C563718
External resources
* Orphanet: 98912
* v
* t
* e
Diseases of muscle, neuromuscular junction, and neuromuscular disease
Neuromuscular-
junction disease
* autoimmune
* Myasthenia gravis
* Lambert–Eaton myasthenic syndrome
* Neuromyotonia
Myopathy
Muscular dystrophy
(DAPC)
AD
* Limb-girdle muscular dystrophy 1
* Oculopharyngeal
* Facioscapulohumeral
* Myotonic
* Distal (most)
AR
* Calpainopathy
* Limb-girdle muscular dystrophy 2
* Congenital
* Fukuyama
* Ullrich
* Walker–Warburg
XR
* dystrophin
* Becker's
* Duchenne
* Emery–Dreifuss
Other structural
* collagen disease
* Bethlem myopathy
* PTP disease
* X-linked MTM
* adaptor protein disease
* BIN1-linked centronuclear myopathy
* cytoskeleton disease
* Nemaline myopathy
* Zaspopathy
Channelopathy
Myotonia
* Myotonia congenita
* Thomsen disease
* Neuromyotonia/Isaacs syndrome
* Paramyotonia congenita
Periodic paralysis
* Hypokalemic
* Thyrotoxic
* Hyperkalemic
Other
* Central core disease
Mitochondrial myopathy
* MELAS
* MERRF
* KSS
* PEO
General
* Inflammatory myopathy
* Congenital myopathy
This article about a disease of musculoskeletal and connective tissue 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
| Zaspopathy | c1836155 | 29,503 | wikipedia | https://en.wikipedia.org/wiki/Zaspopathy | 2021-01-18T18:32:08 | {"gard": ["1886"], "mesh": ["C563718"], "umls": ["C1836155"], "orphanet": ["98912"], "wikidata": ["Q8067052"]} |
Colles' fracture
Other namesColles fracture, Pouteau fracture[1]
An X-ray showing a Colles' fracture
SpecialtyEmergency medicine, orthopedics
SymptomsPain, swelling, deformity, bruising[2]
Usual onsetSudden[2]
CausesFall on an outstretched hand[2]
Risk factorsOsteoporosis[2]
Diagnostic methodX-rays[2]
TreatmentCast, surgery[3]
PrognosisRecovery over 1 to 2 years[2]
Frequency~15% lifetime risk[3]
A Colles' fracture is a type of fracture of the distal forearm in which the broken end of the radius is bent backwards.[2] Symptoms may include pain, swelling, deformity, and bruising.[2] Complications may include damage to the median nerve.[1]
It typically occurs as a result of a fall on an outstretched hand.[2] Risk factors include osteoporosis.[2] The diagnosis may be confirmed with X-rays.[2] The tip of the ulna may also be broken.[4]
Treatment may include casting or surgery.[3] Surgical reduction and casting is possible in the majority of cases in people over the age of 50.[5] Pain management can be achieved during the reduction with procedural sedation and analgesia or a hematoma block.[5] A year or two may be required for healing to occur.[2]
About 15% of people have a Colles' fracture at some point in time.[3] They occur more commonly in young adults and older people than in children and middle-aged adults.[3] Women are more frequently affected than men.[3] The fracture is named after Abraham Colles who described it in 1814.[3]
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Prognosis
* 5 Epidemiology
* 6 History
* 7 See also
* 8 References
* 9 External links
## Causes[edit]
The fracture is most commonly caused by people falling onto a hard surface and breaking their fall with outstretched hand (FOOSH)–falling with wrists flexed would lead to a Smith's fracture. Originally it was described in elderly and/or post-menopausal women. It usually occurs about three to five centimetres proximal to the radio-carpal joint with posterior and lateral displacement of the distal fragment resulting in the characteristic "dinner fork" or "bayonet" like deformity. Colles fracture is a common fracture in people with osteoporosis, second only to vertebral fractures.[citation needed]
## Diagnosis[edit]
Colles fracture of the left hand, with posterior displacement clearly visible.
Diagnosis can be made upon interpretation of anteroposterior and lateral views alone.[6]
The classic Colles fracture has the following characteristics:[7]
* Transverse fracture of the radius
* 2.5 cm (0.98 inches) proximal to the radio-carpal joint
* dorsal displacement and dorsal angulation, together with radial tilt[8]
Other characteristics:[9][6]
* Radial shortening
* Loss of ulnar inclination≤
* Radial angulation of the wrist
* Comminution at the fracture site
* Associated fracture of the ulnar styloid process in more than 60% of cases.
### Classification[edit]
The term Colles fracture is classically used to describe a fracture at the distal end of the radius, at its cortico-cancellous junction. However, the term now tends to be used loosely to describe any fracture of the distal radius, with or without involvement of the ulna, that has dorsal displacement of the fracture fragments. Colles himself described it as a fracture that “takes place at about an inch and a half (38mm) above the carpal extremity of the radius” and “the carpus and the base of metacarpus appears to be thrown backward”.[10] The fracture is sometimes referred to as a "dinner fork" or "bayonet" deformity due to the shape of the resultant forearm.[citation needed]
Colles' fractures can be categorized according to several systems including Frykman, Gartland & Werley, Lidström, Nissen-Lie and the Older's classifications.
## Treatment[edit]
Management depends on the severity of the fracture. An undisplaced fracture may be treated with a cast alone. The cast is applied with the distal fragment in palmar flexion and ulnar deviation. A fracture with mild angulation and displacement may require closed reduction. There is some evidence that immobilization with the wrist in dorsiflexion as opposed to palmarflexion results in less redisplacement and better functional status.[11] Significant angulation and deformity may require an open reduction and internal fixation or external fixation. The volar forearm splint is best for temporary immobilization of forearm, wrist and hand fractures, including Colles fracture.[citation needed] There are several established instability criteria: dorsal tilt >20°, comminuted fracture, abruption of the ulnar styloid process, intraarticular displacement >1mm, loss of radial height >2mm.
A higher amount of instability criteria increases the likelihood of operative treatment.
Treatment modalities differ in the elderly.[12]
Repeat Xrays are recommended at one, two, and six weeks to verify proper healing.[4]
## Prognosis[edit]
Recovery time depends on the degree of bone displacement, the number of bone fragments, whether or not the break is "intra-articular" (involves the wrist joint), as well as the person's age, gender, and medical history, and may range from two months to a year or more for complete recovery.[2]
## Epidemiology[edit]
Colles fractures occur in all age groups, although certain patterns follow an age distribution.[citation needed]
* In the elderly, because of the weaker cortex, the fracture is more often extra-articular.
* Younger individuals tend to require a higher energy force to cause the fracture and tend to have more complex intra-articular fractures. In children with open epiphyses, an equivalent fracture is the "epiphyseal slip", as can be seen in other joints, such as a slipped capital femoral epiphysis in the hip. This is a Salter I or II fracture with the deforming forces directed through the weaker epiphyseal plate.
* More common in women because of post-menopausal osteoporosis.
## History[edit]
The Colles fracture is named after Abraham Colles (1773–1843), an Irish surgeon, from Kilkenny who first described it in 1814 by simply looking at the classical deformity before the advent of X-rays.[13] Ernest Amory Codman was the first to study it using X-rays. His article, published in the Boston Medical and Surgical Journal, now known as The New England Journal of Medicine, also developed the classification system.[14][15]
## See also[edit]
* Smith's fracture
## References[edit]
1. ^ a b "Distal forearm 23-A2.2 CRIF". www2.aofoundation.org. Archived from the original on 13 October 2017. Retrieved 13 October 2017.
2. ^ a b c d e f g h i j k l m "Distal Radius Fractures (Broken Wrist)". orthoinfo.aaos.org. March 2013. Archived from the original on 2 July 2017. Retrieved 12 October 2017.
3. ^ a b c d e f g Blakeney, WG (18 November 2010). "Stabilization and treatment of Colles' fractures in elderly patients". Clinical Interventions in Aging. 5: 337–44. doi:10.2147/CIA.S10042. PMC 3010169. PMID 21228899.
4. ^ a b Pfenninger, John L.; Fowler, Grant C. (2010). Pfenninger and Fowler's Procedures for Primary Care E-Book: Expert Consult. Elsevier Health Sciences. p. 1292. ISBN 978-1455700929. Archived from the original on 2017-10-13.
5. ^ a b Oussedik, S; Haddad, F (September 2005). "Manipulation and immobilization of Colles' fractures". British Journal of Hospital Medicine. 66 (9): M34-5. doi:10.12968/hmed.2005.66.Sup2.19718. PMID 16200794.
6. ^ a b Adam, Greenspan (2015). Orthopedic imaging : a practical approach. Beltran, Javier (Professor of radiology) (Sixth ed.). Philadelphia. ISBN 978-1451191301. OCLC 876669045.
7. ^ GP Notebook. "Colles' fracture". Archived from the original on 2011-06-13. Retrieved 2009-02-21.
8. ^ Solomon et al., Apley's system of orthopaedics and fractures, 9th ed., p.772
9. ^ Essentials of musculoskeletal care. Sarwark, John F. Rosemont, Ill.: American Academy of Orthopaedic Surgeons. 2010. ISBN 9780892035793. OCLC 706805938.CS1 maint: others (link)
10. ^ Colles A 2006 On the fracture of the carpal extremity of the radius. Edinb Med Surg J. 1814;10:181. Clin Orthop Relat Res 445:5-7.
11. ^ "Adult Distal Radius Frx: Non Operative Treatment - Wheeless' Textbook of Orthopaedics". Archived from the original on 2011-04-23.
12. ^ Blakeney, William (November 2010). "Stabilization and treatment of Colles' fractures in elderly patients". Clinical Interventions in Aging. 5: 337–44. doi:10.2147/CIA.S10042. PMC 3010169. PMID 21228899.
13. ^ synd/2152 at Who Named It?
14. ^ Mallon, Bill (2000). Ernest Amory Codman : the end result of a life in medicine. Philadelphia: Saunders. ISBN 978-0-7216-8461-1.
15. ^ CODMAN, E. A. (1900). "A Study of the X-Ray Plates of One Hundred and Forty Cases of Fracture of the Lower End of the Radius". The Boston Medical and Surgical Journal. 143 (13): 305–308. doi:10.1056/NEJM190009271431301. ISSN 0096-6762. S2CID 57812302.
## External links[edit]
* 00913 at CHORUS
* Colles Fracture Wheeless' Textbook
Classification
D
* ICD-10: S52.5
* MeSH: D003100
External resources
* AO Foundation: 23-A2.2
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
*[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
| Colles' fracture | c0009353 | 29,504 | wikipedia | https://en.wikipedia.org/wiki/Colles%27_fracture | 2021-01-18T18:39:25 | {"mesh": ["D003100"], "icd-9": ["813.41"], "icd-10": ["S52.5"], "wikidata": ["Q2290085"]} |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
## Epidemiology
Less than 20 cases have been described in the literature so far.
## Clinical description
Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).
## Etiology
Mutations in the RAB3GAP2 gene have been identified in some patients.
## 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
| Cataract-intellectual disability-hypogonadism syndrome | c0796037 | 29,505 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1387 | 2021-01-23T18:43:48 | {"gard": ["3406"], "mesh": ["C536028"], "omim": ["212720"], "umls": ["C0796037"], "icd-10": ["Q87.8"], "synonyms": ["Martsolf syndrome"]} |
An identity disturbance is a deficiency or inability to maintain one or more major components of identity. These components include a sense of continuity over time; emotional commitment to representations of self, role relationships, core values and self-standards; development of a meaningful world view; and recognition of one's place in the world.[1][2]
It appears to be linked to emotional dysregulation, which has been shown to be a significant predictor of identity disturbance in psychiatric patients even when controlling for borderline personality disorder diagnosis, depression, and anxiety.[3] Although some researchers posit that it is the lack of consistent goals, values, world views, and relationships that lead to a sense of emptiness,[4] it is not entirely clear whether the link between emotional dysregulation and identity disturbance is because a disturbed identity creates a negative affect that is hard to regulate, because emotional dysregulation disturbs identity, because a third variable causes both (confounding), or some combination of the above.
## Correlation with BPD[edit]
Main article: Borderline personality disorder
There are many theories about why borderline personality disorder often includes identity disturbances. One is that patients with BPD inhibit emotions, which causes numbness and emptiness. Another theory is that patients with BPD identify fully with the affective state of each moment, leaping from one moment to the next without the continuity of a narrative identity. Meeting criteria for major depressive disorder predicts identity disturbance in BPD patients, and identity disturbance is also correlated with a heightened risk for substance use disorders and high anxiety in adolescents. The syndrome of identity disturbance is encountered in all personality disorder types.[5]
## Neural substrate[edit]
To understand the development of self-identity, researchers investigating the neural basis of self have examined the neural systems involved in distinguishing one's own thoughts and actions from the thoughts and actions of others.[6][7]
One critical system implicated in this line of research involves the cortical midline structures (CMS), which include the orbital and medial prefrontal cortex, the anterior cingulate cortex, dorsomedial prefrontal cortex, and the posterior cingulate cortex including the adjacent precuneus (see insert).[8] Greater activation in these structures has been found when people made trait judgements about themselves as opposed to others,[9][10] as well as during a resting state (see Default mode network) or self-referential activity compared to when involved in a non-self-referential task.[11][12] In addition to this correlational evidence linking these regions to our self-identity, one study using transcranial magnetic stimulation to transiently disturb neural activity in the medial parietal region of cortex found that this disruption led to a decreased ability to retrieve previous judgements of oneself compared to the retrieval of previous judgements of others.[13]
Regions of the brain collectively known as the cortical midline structures. Scientific data suggest the CMS play a vital role in emotional and identity self-regulation.
Based on evidence from neuroimaging studies in clinical populations, it seems that both high activity in CMS regions during resting state and self-referential activities, accompanied by deactivation of this region during non-self-referential tasks, are critical for forming a stable and unified identity. More pronounced identity disturbance seems to be facilitated by poorer deactivation of CMS during task-related activities.[14] Activity has also been shown to be lower in the dorsal portion of the precuneus for people believed to have identity disturbance compared to controls during the evaluation of self-attributes.[15]
Moreover, researchers comparing resting-state fMRI scans of people with BPD and health controls have found reduced functional connectivity in the retrosplenial cortex and the superior frontal gyrus.[16]
Mindfulness training, a core skill in dialectical behavior therapy used in the treatment of BPD, has been linked with alterations in default mode network activity.[17]
## References[edit]
1. ^ Westen, D. (1985). Self and society: Narcissism, collectivism, and the development of morals. New York: Cambridge University Press.
2. ^ Westin, D. (1992). The cognitive self and the psychoanalytic self: Can we put our selves together? Psychological Inquiry, 3(1), 1-13.
3. ^ Neacsiu, A. D., Herr N. R., Fang C. M., Rodriguez M. A., Rosenthal M. Z. (2015). Identity disturbance and problems with emotion regulation are related constructs across diagnoses. Journal of Clinical Psychology, 71(4), 346-361. PMID 25534425
4. ^ Westen, D., Cohen, R.P. (1993). The self in borderline personality disorder: A psychodynamic perspective. In Z. V. Segal, & S. J. Blatt (Eds.), The self in emotional distress: Cognitive and psychodynamic perspectives (pp. 334-368). New York: Guilford Press.
5. ^ Modestin, Jiri Identity disturbance in personality disorders. Comprehensive Psychiatry. (11/1998), 39 (6), p. 352 - 357
6. ^ Farrer, C., Franck, N., Georgieff, N., Frith, C. D., Decety, J., Jeannerod, M. (2003). "Modulating the experience of agency: A positron emission tomography study". Neuroimage 18, 324–333.
7. ^ Astington, J. W., Harris, P. L., Olson, D. R. (1988). Developing theories of mind. New York: Cambridge University Press.
8. ^ Northoff, G., Bermpohl, F. (2004). "Cortical midline structures and the self". Trends in Cognitive Sciences, 8(3), 102–107.
9. ^ D'Argembeau, A., Ruby, P., Collette, F., et al. (2007). "Distinct regions of the medial prefrontal cortex are associated with self-referential processing and perspective taking". Journal of Cognitive Neuroscience' , 19, 935–944.
10. ^ Kelley, W. M., Macrae, C. N., Wyland, C. L., Caglar, S., Inati, S., Heatherton, T.F. (2002). "Finding the self? An event-related fMRI study". Journal of Cognitive Neuroscience, 14, 785–794
11. ^ Gusnard, D. A. & Raichle, M. E. (2001). "Searching for a baseline: Functional imaging and the resting human brain." National Review of Neuroscience 2, 685–694. doi:10.1038/35094500
12. ^ Gusnard, D. A., Akbudak, E., Shulman, G. & Raichle, M. E. (2001) "Medial prefrontal cortex and self-referential mental activity: Relation to a default mode of brain function." Proceedings of the National Academy of Sciences 98 (7), 4259–4264. doi:10.1073/pnas.071043098
13. ^ Lou, H. C., Luber, B., Crupain, M., Keenan, J. P., Nowak, M., Kjaer, T. W., Sackeim, H. A., & Lisanby, S. H. (2004). "Parietal cortex and representation of the mental Self". Proceedings of the National Academy of Sciences, 101(17), 6827–6832.
14. ^ Stephan Doering, S., Enzi, B., Faber, C., Hinrichs, J., Bahmer, J., and Northoff, G. (2012). "Personality Functioning and the Cortical Midline Structures – An Exploratory fMRI Study". PLOS One, 7(11), 1-8.
15. ^ McAdams, C. J., and Krawczyk, D. C. (2012). "Who am I? How do I look? Neural differences in self-identity in anorexia nervosa". SCAN, 9, 12-21.
16. ^ Kluetsch RC, Schmahl C, Niedtfeld I, Densmore M, Calhoun VD, Daniels J, Kraus A, Ludaescher P, Bohus M, Lanius RA. (2012). "Alterations in default mode network connectivity during pain processing in borderline personality disorder". Archives of General Psychiatry, 69(10), 993–1002.
17. ^ Farb, N. A., Segal, Z. V., and Anderson, A. K. (2013). "Mindfulness meditation training alters cortical representations of interoceptive attention". Social Cognitive and Affective Neuroscience, 8(1), 15–26. doi:10.1093/scan/nss066;10.1093/scan/nss066
*[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
| Identity disturbance | c0231408 | 29,506 | wikipedia | https://en.wikipedia.org/wiki/Identity_disturbance | 2021-01-18T18:48:34 | {"umls": ["C0231408"], "wikidata": ["Q25100073"]} |
A number sign (#) is used with this entry because Niemann-Pick disease type C1 and Niemann-Pick disease type D, also known as the Nova Scotian type, are caused by homozygous or compound heterozygous mutation in the NPC1 gene (607623) on chromosome 18q11.
Description
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (601015), referred to as type C2 (607625). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).
Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see 607616), and phenotypic variation within each group has also been described.
Clinical Features
Niemann-Pick disease type C has a highly variable clinical phenotype. Patients with the 'classic' childhood onset type C usually appear normal for 1 or 2 years with symptoms appearing between 2 and 4 years. They gradually develop neurologic abnormalities which are initially manifested by ataxia, grand mal seizures, and loss of previously learned speech. Spasticity is striking and seizures, particularly myoclonic jerks, are common. Other features include dystonia, vertical supranuclear gaze palsy, dementia, and psychiatric manifestations. In general, hepatosplenomegaly is less striking than in types A and B, although it can be lethal in some. Cholestatic jaundice occurs in some patients. Foamy Niemann-Pick cells and 'sea-blue' histiocytes with distinctive histochemical and ultrastructural appearances are found in the bone marrow. In the childhood-onset form, death usually occurs at age 5 to 15 (Brady, 1983, Patterson et al., 2001). Adult-onset forms, with insidious onset and slower progression, have also been reported (see, e.g., Shulman et al., 1995).
DeLeon et al. (1969) described 2 females and a male in a black kindred with a juvenile form of cerebral lipidosis. Clinical features were onset between age 4 and 9 years, dementia progressing to complete amentia and an akinetic mute state, grand mal and minor motor seizures, progressive dystonia of posture with tendency to flexion of the arms, hyperextension of the spine and extension of the legs, clumsiness and mild atypical ataxia, some intention tremor and athetosis, grasp reflexes and severe reflex trismus in the final stages, tendency to hyperreflexia but preservation of fair strength and normal plantar reflexes until late. Notably absent were retinal degeneration, myoclonus, prominent pyramidal or bulbar involvement, and hepatosplenomegaly. In 1 case, foam histiocytes were demonstrated in the bone marrow. Cerebral sphingolipids in biopsy-obtained material were normal. Electron microscopic findings by Elfenbein (1968) supported the distinctness of this entity, which they called 'dystonic juvenile idiocy without amaurosis'. The cases reported by Kidd (1967) as 'atypical cerebral lipidosis', and Karpati et al. (1977) as 'juvenile dystonic lipidosis', are thought to be identical.
Neville et al. (1973) found 3 pairs of affected sibs and an equal sex incidence. Two brothers were reported by Grover and Naiman (1971). Neurologic manifestations included vertical gaze paresis and progressive dysarthria.
A variant of Niemann-Pick disease, most likely type C, was observed in 9 children in 5 families by Wenger et al. (1977). Neonatal jaundice, easy bruisability, vertical supranuclear ophthalmoplegia, intellectual and neurologic deterioration, hepatosplenomegaly, and sea-blue or foamy histiocytes were features. All 5 families were from the old Spanish-American population of southern Colorado or New Mexico. Low (average about 30% of normal) activity of sphingomyelinase was found in the fibroblasts of 7 of 8 cases evaluated. A similar case was reported in a Spanish woman from northern New Mexico by Kornfeld et al. (1975).
The patient reported by Longstreth et al. (1982) as 'adult dystonic lipidosis' may have had this disorder: a 43-year-old man who presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. Adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Niemann-Pick disease was excluded by normal sphingomyelinase activity in cultured skin fibroblasts. The patient, who also had mitral valve prolapse, was able to work as a janitor until age 37 years. Lysosomal storage of neutral fat and phospholipids was suggested by electron microscopy.
In ocular histopathologic studies of a girl who died at age 11 years, Palmer et al. (1985) noted lipid deposits.
Witzleben et al. (1986) emphasized that childhood cirrhosis is a feature of NPC. They reported 2 unrelated cases. Skin fibroblasts in one showed sphingomyelinase activity that was 42% of control values. The hepatic storage underlying the cirrhosis was typically inconspicuous; however, sea-blue histiocytes in the marrow could be considered a valuable diagnostic clue.
In a collaborative study in Lyon, France, Denver, Colorado, and Bethesda, Maryland, Vanier et al. (1988) studied 70 patients with type C Niemann-Pick disease clinically and biochemically. Age of onset ranged from the neonatal period to 55 years. More than 90% of the patients had some degree of splenomegaly and/or hepatomegaly, but notably, some had none. Neurologic deterioration was a central characteristic of the disease, but onset and progression varied. In infancy, there was hypotonia, developmental delay, mental deterioration, and spasticity. In childhood, there was cerebellar ataxia, poor school performance, dysarthria, dystonia, vertical supranuclear gaze palsy, and seizures. Two patients had adult-onset disease with neurologic and psychiatric manifestations. Bone marrow biopsies consistently showed foam cells and/or sea-blue histiocytes. Sphingomyelinase activity was normal or somewhat reduced (47% of controls). Very low cholesterol esterification rates were observed in more than 90% of the patients, including all cases with the most severe forms of the disease.
On the basis of the analysis of 22 patients, Fink et al. (1989) delineated 3 phenotypes of NPC: (1) an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later with supranuclear vertical gaze paresis, ataxia, marked spasticity, and dementia; (2) a delayed-onset, slowly progressive form heralded by the appearance, usually in early childhood, of mild intellectual impairment, supranuclear vertical gaze paresis, and ataxia, and later associated with dementia and, variably, seizures and extrapyramidal deficits; and (3) a late-onset, slowly progressive form distinguished from the second pattern by later age of onset (adolescence or adulthood) and a much slower rate of progression. Phenotypes 1 and 2 have been observed in the same sibship. Omura et al. (1989) reported 6 cases.
Turpin et al. (1991) discussed the form of type C Niemann-Pick disease that starts in adolescence or adulthood and shows a slower evolution than does the infantile form. Psychomotor retardation is a consistent feature. Cerebellar ataxia and extrapyramidal manifestations are often found rather than pyramidal manifestations. Supranuclear ophthalmoplegia with paralysis of down-gaze is nearly constant. Cataplexy and other types of seizures may be found during the evolution of the disease. In some cases a psychosis may be the only manifestation for several years; the treatment by psychotropic drugs raises the question of a superimposition of a drug-induced lipidosis. Although hepatosplenomegaly is a consistent finding in children in the infantile form of the disease, hepatomegaly is often absent in the adult forms and splenomegaly, although generally present, is not pronounced. Foam cells or sea-blue histiocytes are found on bone marrow biopsy.
Imrie et al. (2002) reported 17 patients with Niemann-Pick type disease type C who presented in late childhood or adulthood. They suggested that adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease (277900). The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be helpful in the differential diagnosis. Imrie et al. (2002) concluded that the diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and DNA mutation analysis. They stated that in most adult-onset patients the presenting neurologic abnormality will be a combination of ataxia and dysarthria. As the disease progresses, dystonia and seizures may occur. The characteristic ocular abnormality (supranuclear gaze palsy) usually appears early in the course of the disease but can be very subtle initially and only detected by detailed ophthalmologic assessment. In 3 patients, symptoms of the disease appeared with or were exacerbated by pregnancy.
Josephs et al. (2004) reported a 75-year-old woman who was a heterozygous carrier of an NPC1 mutation (607623.0013). She presented with a 10-year history of tremor, initially a side-to-side head tremor, which later progressed to her upper extremities. The tremor was worse at rest and worsened with mental activity, and she was initially diagnosed with Parkinson disease (168600). The patient had 3 brothers who were affected by a severe childhood-onset neurologic disorder characterized by spastic dysarthria, tremor, paresis of vertical eye movements, disturbance of gait, and splenomegaly (Willvonseder et al., 1973). Josephs et al. (2004) concluded that their patient was a manifesting carrier of Niemann-Pick disease type C and that her brothers likely carried 2 mutations in the NPC1 gene.
Garver et al. (2007) analyzed data from 87 questionnaires received from Niemann-Pick type C1 families living in the United States and reported that the average age of diagnosis was 10.4 years, with one-half of patients being diagnosed before the age of 6.9 years, and the average age of death was 16.2 years, with one-half of all patients dying before the age of 12.5 years. The most common clinical symptom reported at birth was neonatal jaundice (52%), followed by enlargement of the spleen (36%) and liver (31%); ascites (19%) and neonatal hypotonia (6%) were much less frequent. Common developmental difficulties included clumsiness (87%), learning difficulties (87%), ataxia (83%), dysphagia (80%), and vertical gaze palsy (81%). The questionnaires formed the basis for the National NPC1 Disease Database.
In a study of ocular movements of 3 adult patients with biochemically confirmed NPC disease, Abel et al. (2009) found that reflexive saccade latency ranged from shorter to longer than normal, reflexive saccade gain was reduced, asymptotic peak velocity was reduced, fewer self-paced saccades were generated, and increased errors on antisaccades were made by patients compared to controls. Patients with more severe biochemical, cognitive, and symptom deficits performed most poorly on brainstem and frontal ocular motor measures. Paradoxically, less severe illness was associated with an abnormally reduced saccadic latency. The findings suggested that reduced saccadic latency may result from inadequate fixation input from abnormally functioning frontal eye fields. All patients had presented with a psychotic illness. Abel et al. (2009) concluded that ocular motor measures may provide an index of disease severity in Niemann-Pick disease type C, and may be a useful adjunct for monitoring disease progression and medication response.
Walterfang et al. (2010) reported the neuroradiologic findings of 6 patients with adult-onset NPC who presented with psychosis, ophthalmoplegia, or a dysexecutive syndrome. Compared to controls, patients had bilateral focal gray matter reductions in the hippocampus, thalamus, superior cerebellum, and insula, in addition to smaller regions of the inferoposterior cortex. These changes corresponded to the clinical findings in adults, although the frontal cortex did not show changes on imaging. Fractional anisotropy showed widespread reductions in major white matter tracts affecting most brain regions, which appeared to be due to both impaired myelination and altered axonal structure. Overall, the findings were consistent with a selective vulnerability of certain neuronal populations; the more widespread white matter changes were consistent with the hypothesis that disrupted myelination and axonal structure may predate changes to the neuronal cell body.
### Fetal Niemann-Pick Disease Type C
Spiegel et al. (2009) reported 7 patients from 5 unrelated families with fetal onset of NPC. Three of the families were consanguineous: 2 of Arab Muslim descent and 1 of Ashkenazi Jewish descent. Two fetuses were diagnosed prenatally based on the combination of splenomegaly and ascites early in the third trimester, followed by analysis of cultured amniocytes. Three patients were diagnosed postnatally, and the last 2 were diagnosed based on an affected sib. The prognosis was very poor in all patients: 1 died in utero, 1 pregnancy was terminated, and 4 died within the first 7 months of life from neonatal cholestatic disease. The seventh patient had developmental regression at age 10 months, followed by rapid neurologic deterioration with spastic quadriplegia, profound mental retardation, seizures, and generalized white matter dysmyelination. The fetal presentations included in utero splenomegaly (6 of 7), in utero hepatomegaly (5 of 7), in utero ascites (4 of 7), intrauterine growth retardation (2 of 7), and oligohydramnios (2 of 7). Placentomegaly and intervillous thrombosis was present in 2 of 3 pregnancies examined. Congenital thrombocytopenia (4 of 4), congenital anemia (2 of 4), and petechial rash (2 of 5) were diagnosed immediately after birth in some. Genetic analysis confirmed the diagnosis in all cases. Spiegel et al. (2009) suggested that fetal onset may represent a unique subset of neonatal NPC with a grave prognosis.
### Niemann-Pick Disease, Type D (Nova Scotian)
Although Niemann-Pick disease type C and type D are clinically similar, Greer et al. (1997) suggested that NPD has a more homogeneous expression than NPC and that patients with NPD resemble less severely affected NPC patients.
Studying a 13-year-old Nova Scotian case, Rao and Spence (1977) found elevated sphingomyelin, especially in the spleen, and even greater elevation of free cholesterol. They could not demonstrate deficiency of total sphingomyelinase.
Jan and Camfield (1998) performed a retrospective clinical study of 20 cases of Nova Scotian NPD. The female-to-male ratio was 2 to 1. Five of the children had severe neonatal jaundice. Early milestones were normal in the majority. Neurologic symptoms developed between 5 and 10 years of age, with a mean age at diagnosis of 7.2 years. Seizures developed in all children between 4.5 and 16 years of age and were followed by significant physical and mental deterioration. Age at death was between 11 and 22.5 years, with the majority dying of pneumonia.
Inheritance
Niemann-Pick disease type C is an autosomal recessive disorder (Vanier and Millat, 2003).
### Inheritance of Type D
Winsor and Welch (1978) gave a full genetic discussion of the Nova Scotian or type D Niemann-Pick disease. They identified 19 cases distributed in 15 sibships, in French Acadians of Yarmouth County, N.S. All 30 parents traced back to Joseph Muise, married to Marie Amirault, who lived in the late 1600s and early 1700s. Two other common ancestral couples were identified, but the Muise-Amirault couple had by far the largest number of 'valid coincidences.' (Since all forebears of a common ancestor appear on both sides of the pedigree, not every match will indicate a 'real' common ancestor, which occurs when the common ancestor's child on the father's side is different on the mother's side. Mange (1964) termed the latter situation a 'valid coincidence.') Carrier frequency was presumably high, because none of the affected sibships had closely related parents and because a considerable proportion of children chosen at random could be traced to the Muise couple. Fredrickson and Sloan (1972) described 3 sibs with a disorder clinically identical to the Nova Scotian disorder. The father could be traced to the Muise couple; the mother was Italian. Winsor and Welch (1978) suggested these children might have a genetic compound disorder, the Acadian mutation being unique.
Diagnosis
Argoff et al. (1990) suggested that assay for the deficiency, which shows impaired ability of cultured fibroblasts to esterify exogenously supplied cholesterol, is useful for confirming the diagnosis in patients with atypical presentation. Boustany et al. (1990) a suggested that characteristic ultrastructural changes may be useful to the diagnosis.
Vanier et al. (1991) reported on a personal experience with 134 cases, which indicated that the diagnosis is best reached by the combined demonstration of a deficient induction of esterification of cholesterol and of an intravesicular cholesterol storage by cytochemistry after filipin staining. They gave brief reports of 6 adult-onset cases. Although there was a wide phenotypic spectrum, complementation studies yielded no evidence of separate complementation groups.
Ceuterick and Martin (1994) demonstrated osmiophilic pleomorphic lamellar inclusions in dermal fibroblasts and perivascular histiocytes in skin biopsies in 8 Niemann-Pick type C patients but not in 473 controls. They emphasized that a skin biopsy may be useful diagnostically.
Imrie and Wraith (2001) described 4 patients with Niemann-Pick disease type C in whom the presentation was isolated splenic enlargement; this remained the only abnormality for a number of years. They stated that the diagnosis can be suggested by either finding abnormal storage material in a tissue biopsy specimen or by showing a modest elevation in plasma chitotriosidase activity. In patients with suggestive abnormalities, filipin staining of a skin fibroblast sample should confirm the abnormality in cholesterol trafficking. They suggested that formal esterification studies and mutation analysis should be performed, especially if prenatal testing is to be done in subsequent pregnancies. If the diagnosis is not considered and established, the family is at risk of having further affected children.
The biochemical diagnosis of NPC relies on the use of patient skin fibroblasts in an assay to demonstrate delayed low-density lipoprotein (LDL)-derived cholesterol esterification and a cytologic technique (filipin staining) to demonstrate the intracellular accumulation of cholesterol. A few patients, referred to as 'NPC variants,' present with clinical symptoms of NPC but show near-normal results of these biochemical tests. Sun et al. (2001) demonstrated that NPC-variant fibroblast samples can be detected as sphingolipid storage disease cells by using a fluorescent sphingolipid analog that accumulates in endosomes/lysosomes in variant cells preincubated with LDL cholesterol but targeted to the Golgi complex in normal cells under these conditions.
Mapping
The locus corresponding to the mouse NPC phenotype (Pentchev et al., 1984), symbolized spm, was shown by Sakai et al. (1991) to be on mouse chromosome 18. Since mouse chromosome 18 has extensive syntenic homology with human chromosomes 5 and 18, Carstea et al. (1993) undertook linkage analysis with markers specific to these chromosomes. No linkage was found with chromosome 5, but strong evidence of linkage was found with chromosome 18. Within affected offspring, the chromosome 18 parental contribution was identical, as demonstrated by allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a 2-point lod score of 3.84. Three recombinants detected among the 28 informative individuals represented a recombination fraction of 0.07. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is located in the pericentromeric region of chromosome 18, probably on the short arm. In their Figure 2, Carstea et al. (1993) demonstrated how chromosome 18 was divided into 6 regions, designated A through F, and how meiotic recombination resulted in divergent segregation of one or more markers and the NPC phenotype. Only 1 of the 6 intervals, a pericentromeric one, showed no evidence of meiotic recombination. By linkage studies, Carstea et al. (1994) located the NPC gene to a region defined by DNA markers in the 18q11-q12 region. In 1 family linkage to this region was excluded, suggesting the existence of a separate gene that codes for an additional component required for intracellular movement of cholesterol (see below).
Greer et al. (1997) presented linkage evidence supporting allelism of NPC and NPD. They found that NPD in Nova Scotia is tightly linked (recombination fraction = 0.00; maximum lod score = 4.50) to a microsatellite marker, D18S480, from the centromeric region of 18q. This is the same site as that to which the NPC1 gene (607623) was mapped by Carstea et al. (1994). In a study of a single large kindred with NPD, Greer et al. (1999) used linkage disequilibrium mapping and 5 newly developed polymorphic microsatellite markers to narrow the NPC1 critical region to a 5-cM interval.
Heterogeneity
### Genetic Heterogeneity
To investigate the possibility that mutation at more than one locus can cause the disorder, Steinberg et al. (1994) undertook somatic cell hybridization experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Using filipin staining of free cholesterol as a marker for complementation, they found evidence for the existence of 1 major group, called group alpha, and a minor group, called group beta, represented by 1 mutant strain. Other experiments in which sphingomyelinase activity was measured as a marker for complementation using 5 mutant strains showed activity consistently less than 40% of control levels, confirming the existence of the second group, later termed NPC2. Further support for the genetic heterogeneity was provided by Vanier et al. (1996) from complementation studies by somatic cell hybridization and linkage analysis. Crosses between various cell lines revealed a major complementation group (type C1) comprising 27 unrelated patients and a second minor group (type C2) comprising 5 patients. Linkage analysis in a multiplex family belonging to the minor complementation group showed that the mutated gene did not map to 18q11-q12 where the major gene is located. Patients in the first group spanned the whole spectrum of clinical and cellular phenotypes. No consistent clinical or biochemical phenotype was associated with the second complementation group; however, 3 of the 5 patients in group 2 presented with severe pulmonary involvement leading to death with the first year of life (see NPC2; 607625). The causative NPC2 gene was later identified (see 601015).
Vanier and Millat (2003) stated that approximately 95% of patients with Niemann-Pick disease type C have mutations in the NPC1 gene, which encodes a large membrane glycoprotein primarily located to late endosomes, and the remainder have mutations in the NPC2 gene, which encodes a small soluble lysosomal protein with cholesterol-binding properties. The identical biochemical patterns observed in NPC1 and NPC2 mutants suggested that the 2 proteins function in a coordinate fashion. The NPC1 and NPC2 proteins are involved in the cellular postlysosomal/late endosomal transport of cholesterol, glycolipids, and other cargo.
Pathogenesis
Brady (1978) pointed out that sphingomyelinase is deficient in type C as well as in types A and B. Although he stated that total sphingomyelinase activity may be 'attenuated' in some patients with types D and E, he raised doubts about the classification of type D as a sphingomyelin storage disease.
On the basis of somatic cell hybridization studies, Besley et al. (1980) suggested that types A and B may be genetically distinct from type C. Fusion of type C cells with either type A or type B cells resulted in restoration of sphingomyelinase activity.
Gilbert et al. (1981) reported extensively on the cases of 2 sisters who died at ages 8 and 7 years of the progressive CNS degenerative process of Niemann-Pick disease type C. Biochemical analyses showed elevated levels of sphingomyelin in liver and spleen with normal total sphingomyelinase activity. However, by isoelectric focusing, sphingomyelinase activity in the range of pI 4.6-5.2 was markedly reduced, whereas normal amounts of more acidic components were found. A similar explanation for 'Niemann-Pick disease without sphingomyelinase deficiency' may obtain in other cases.
Pentchev et al. (1985) were prompted to study cholesterol esterification in Niemann-Pick disease because of the similar phenotypic findings in a murine mutation affecting cholesterol esterification (Pentchev et al., 1984). They found esterification to be normal in 6 type A and 8 type B Niemann-Pick cell lines. In striking contrast, all 24 type C Niemann-Pick cell lines showed a major block in cholesterol esterification, whereas internalization and lysosomal processing of lipoprotein cholesterol was apparently normal. Acyl-CoA:cholesterol acyltransferase activity was also normal in type C cell extracts. Fluorescent microscopy showed that type C cells grown in fetal calf serum stored much unesterified cholesterol. The partial expression of the esterification defect (50% of normal) in heterozygous mice indicated that it is the primary fault.
Kruth et al. (1986) and Pentchev et al. (1986) discussed the abnormality of cholesterol metabolism in this disorder. In both heterozygous and homozygous type C Niemann-Pick fibroblasts, excessive uptake of LDL cholesterol and deficient esterification of the internalized cholesterol were observed. As reported by Pentchev et al. (1985), Liscum and Faust (1987) found that LDL does not stimulate cholesterol esterification in this disorder; however, they also showed that LDL does not down-regulate cholesterol synthesis or LDL receptor activity normally. They suggested that the intracellular processing of LDL-derived cholesterol may be defective in NPC fibroblasts. This suggestion was corroborated by the findings of Sokol et al. (1988), who examined the intracellular accumulation of unesterified cholesterol in normal and Niemann-Pick C fibroblasts. They found that the plasma membrane cholesterol of normal cells was more readily replenished by internalized LDL cholesterol than that of mutant fibroblasts. Their studies suggested that deficient translocation of exogenously derived cholesterol from lysosomes to other intracellular membrane sites may have an important pathophysiologic role in type C Niemann-Pick disease.
Vanier et al. (1988) demonstrated that cultured homozygous NPC cells challenged with pure human low-density lipoproteins showed a pronounced deficiency in cholesterol esterification and that heterozygotes showed intermediate rates of esterification. All other pathologic conditions studied, including types A and B Niemann-Pick disease, gave normal results. There appeared to be a correlation between the clinical phenotype and severity of the biochemical lesion.
Blanchette-Mackie et al. (1988) showed that incubation of fibroblasts from patients with type C Niemann-Pick disease with low density lipoprotein resulted in excessive intracellular accumulation of unesterified cholesterol not only in lysosomes but also at an early stage in the Golgi complex. They suggested that the Golgi complex may play a role in the intracellular translocation of exogenously derived cholesterol and that disruptions of the cholesterol transport pathway at the Golgi may, in part, be responsible for the deficiency in cholesterol utilization in this disorder.
Thomas et al. (1989) found that the sphingomyelinase deficiency (37.9% of normal on the average) could be corrected in fibroblasts from Niemann-Pick type C patients by removal of the lipoprotein fraction from the culture medium. This is consistent with the view that the primary defect is one affecting the cellular transport and/or processing of free cholesterol and that it is the intracellular storage of cholesterol that causes a marked attenuation of lysosomal sphingomyelinase activity.
Although some biochemical differences may exist between type C and type D Niemann-Pick disease, both show evidence of defective regulation of intracellular cholesterol esterification and storage. Complementation of cholesterol esterification was not observed either when NPC and NPD fibroblasts were fused with polyethylene glycol (Sidhu et al., 1993) or when activity was measured directly in mixed-cell homogenates (Byers et al., 1989).
Roff et al. (1991) pointed out that a number of hydrophobic amines such as imipramine inhibit low-density lipoprotein-induced esterification of cholesterol and cause unesterified cholesterol to accumulate in perinuclear vesicles. When stained with filipin, the appearance is indistinguishable from that seen in NPC fibroblasts. Thus, these agents produce a cholesterol lipidosis similar to that of NPC, which is due to defective post-lysosomal cholesterol transport. Roff et al. (1991) raised the possibility that an endogenous hydrophobic amine such as sphinganine may inhibit cholesterol transport in NPC.
Nerve cells demonstrate not only storage of cholesterol but also neurofibrillary tangles containing paired helical filaments, similar to the neurofibrillary tangles present in Alzheimer disease (see 104300), Kufs disease (see 204300), Down syndrome (190685), tuberous sclerosis (see 191100), progressive supranuclear palsy (601104), and neurodegeneration with brain iron accumulation-1 (NBIA1; 234200), among others. The presence of neurofibrillary tangles in Niemann-Pick type C distinguishes it from other types of Niemann-Pick disease. Auer et al. (1995) demonstrated tau protein (157140) in Western blots from brain tissue in 5 cases of Niemann-Pick type C.
In 3 patients in their thirties with genetically confirmed Niemann-Pick disease type C who were homozygous for the APOE4 (107741) allele, Saito et al. (2002) found abundant neurofibrillary tangles, widespread increased beta-amyloid diffuse plaques, and severe tau pathology. The authors suggested that NPC1 gene mutations combined with homozygosity of APOE4 alleles leads to pathology similar to that found in Alzheimer disease.
Vance (2006) provided a detailed review of the cellular mechanisms of lipid imbalance in NPC. Accumulation of cholesterol and gangliosides disrupts intracellular trafficking and affects normal cholesterol use within the cell.
Lloyd-Evans et al. (2008) found that lysosomal sphingosine storage and reduced lysosomal calcium levels were early events in development of the NPC phenotype in normal human cells exposed to the NPC-inducing drug U18666A. In this model, accumulation of cholesterol, sphingomyelin, and glycerosphingolipid was a secondary event. Pharmacologic elevation of cytosolic calcium or reduction of sphingosine content reversed the NPC phenotype in several cellular models of NPC, and sphingosine alone induced the abnormal calcium phenotype in a concentration-dependent manner. Treatment of Npc1 -/- mice with curcumin, a weak SERCA (see 108730) antagonist that elevates cytosolic calcium levels, increased life expectancy by 35% and slowed the rate of disease progression by 3 weeks. Lloyd-Evans et al. (2008) concluded that NPC1 is involved in sphingosine efflux from lysosomes, and that lysosomal sphingosine accumulation in NPC alters intracellular calcium concentration and causes abnormal endocytic trafficking.
Molecular Genetics
In several patients with Niemann-Pick disease type C, Carstea et al. (1997) identified mutations in the NPC1 gene (607623.0001-607623.0003). In a study of cDNA and genomic DNA isolated from the fibroblasts of 11 patients with NPC1, 10 Japanese (7 late infantile, 2 juvenile, and 1 adult form of the disease) and 1 Caucasian, Yamamoto et al. (1999) found 14 novel mutations in the NPC1 gene, including small deletions and point mutations.
Yamamoto et al. (2000) studied 15 Japanese and 2 white patients with NPC. They found that in those patients with the late infantile form of the disease, there was a clear reduction of the NPC1 protein level regardless of the type of mutation, and 5 fibroblast lines expressed undetectable levels of NPC1 protein. Patients with a late clinical onset were distinct in that all of their skin fibroblasts expressed considerable levels of mutant NPC1 protein.
In the Nova Scotian variant of Niemann-Pick disease, Greer et al. (1998) demonstrated a 3097G-T transversion in the NPC1 gene, resulting in a gly992-to-trp amino acid substitution (607623.0004).
Kaminski et al. (2002) analyzed the NPC1 gene in 5 German patients with NPC1-related families. They identified a total of 5 novel mutations in the coding region of NPC1.
Population Genetics
Greer et al. (1997) noted that Yarmouth County in Nova Scotia appears to have the world's highest incidence of Niemann-Pick type II disease (encompassing types C and D). The frequency of affected children in 1 region of the county was said to be about 1% and the frequency of heterozygous carriers was estimated to be 10 to 26% (Winsor and Welch, 1978).
To determine the incidence rate of NPC1 and NPC2 (607625), Wassif et al. (2016) analyzed 4 large independent massively parallel exome sequencing projects containing a total 17,754 chromosomes in which no patient had been screened for the diagnosis of Niemann-Pick disease, and analyzed every variant for pathogenicity. The data suggested an incidence rate for NPC1 of 1 in 92,104 and for NPC2 of 1 in 2,858,998. Evaluation of common NPC1 variants, however, suggested that there may be a late-onset NPC1 phenotype with a markedly higher incidence, on the order of 1 in 19,000 to 1 in 36,000. Wassif et al. (2016) determined a combined incidence of classical NPC of 1 in 89,229, or 1.12 affected patients per 100,000 conceptions, but predicted incomplete ascertainment of a late-onset phenotype of NPC1.
Nomenclature
Niemann Pick disease has been classified by some into type I and type II: type I encompasses 2 subtypes, A and B (607616), which show deficiency of sphingomyelinase, and type II encompasses 2 subtypes, type C (NPC1; 257220, NPC2; 607625) and type D (Greer et al., 1997).
History
Christomanou (1980) reported that some patients with the juvenile form of Niemann-Pick disease may be missing a required activator protein. With the fifth edition of The Metabolic Basis of Inherited Disease, types A, B, and C were said to 'appear to be allelic disorders in which 1 of at least 3 different mutations affects the activity of sphingomyelinase' (Brady, 1983). Subsequently, type C proved to be due to mutation in a different gene on a different chromosome from that mutant in types A and B.
Animal Model
Two independently derived mutant mouse colonies played a pivotal role in delineating the biochemical basis of NPC. One was a BALB/c mouse presenting clinical and biochemical features of NPC (Pentchev et al., 1984); the other was the C57BL/Ks mouse characterized as a sphingomyelinosis because of attenuated sphingomyelinase activity and excess sphingomyelin accumulation (Miyawaki et al., 1986; Kitagawa, 1987).
Pentchev et al. (1986) reviewed the findings in the murine disorder and in type C Niemann-Pick disease. The esterification defect concerns exogenously derived cholesterol; synthesis of cholesteryl ester from labeled mevalonic acid and squalene was normal in affected fibroblasts as was endogenous cholesteryl ester synthesis from endogenous cholesterol induced by 25-hydroxycholesterol.
Lowenthal et al. (1990) described Niemann-Pick disease type C in a domestic short-hair kitten. The dam and littermates were donated to Colorado State University, and a breeding colony was established. Brown et al. (1994) reported on the clinical, biochemical, and morphologic findings in 26 affected cats.
Akaboshi et al. (1997) reported that a cell line derived from the C57BL/KsJ mouse model of NPC shows biochemical abnormalities similar to those in fibroblasts derived from human patients. Somatic cell hybridization analysis of these cells and 5 fibroblast strains derived from NPC patients (4 childhood cases and 1 adult case) was carried out. The criterion for complementation was the restoration of the normal intracellular fluorescent pattern in multinucleated cells stained with filipin to demonstrate cholesterol accumulation. These cells could be assigned to 2 complementation groups. The mutant mouse cells did not complement cell strains derived from childhood-type NPC, while they complemented a cell strain derived from an adult patient. The results indicated that the mouse is an authentic model of a major complementation group of NPC, and that NPC consists of genetically heterogeneous groups.
Studying the mutant BALB/c mouse model of NPC, Schedin et al. (1997) investigated enzymatic markers for lysosomes, mitochondria, microsomes, and peroxisomes in liver and brain. In addition to the lysosomal changes, they found a sizable decrease of peroxisomal beta-oxidation of fatty acids and catalase activity in these 2 organs. Isolated peroxisomes displayed a significant decrease in these enzyme activities. Furthermore, the only phospholipid change in brain was a decreased content of the plasmalogen form of phosphatidylethanolamine, and the dimethylacetal pattern was also modified. The electron microscopic appearance of peroxisomes did not show any large changes. The defect of peroxisomal enzymes was already present 18 days before the onset of the disease. In contrast, the lysosomal marker enzyme increased in activity only 6 days after the appearance of the symptoms. The events of the pathologic process had previously been considered to be elicited by lysosomal deficiency, but this study showed disturbances similar to those in a number of peroxisomal diseases. The peroxisomal impairment appeared to be an early event in the process and could be a factor in the development of Niemann-Pick type C disease.
Xie et al. (1999) used the NPC mouse to determine whether the accumulation of unesterified cholesterol in this disorder represents sterol carried in low density lipoprotein (LDL) and chylomicrons (CMs) taken up into the tissues through the coated-pit pathway. A series of observations strongly supported the conclusion that, in Niemann-Pick disease type C, it is the cholesterol carried in LDL and CMs that is sequestered in the tissues, and not sterol that is newly synthesized and carried in high density lipoprotein.
Erickson et al. (2000) used a mouse model with a disrupted Npc1 gene to study 2 cholesterol-lowering drugs (nifedipine and probucol) and the effects of introducing a null mutation in the low density lipoprotein receptor (LDLR; 606945). Although these treatments significantly ameliorated liver cholesterol storage, there was little effect on the onset of neurologic symptoms.
Liu et al. (2000) determined the relative contribution of ganglioside accumulation in the neuropathogenesis of NPC by breeding NPC model mice with mice carrying a targeted mutation in GalNAc-T (601873), the gene encoding the beta-1-4GalNAc transferase responsible for the synthesis of GM2 and complex gangliosides. Unlike the NPC model mice, the double mutant mice did not exhibit central nervous system (CNS) accumulation of gangliosides GM2 or of glycolipids GA1 and GA2. Histologic analysis revealed that the characteristic neuronal storage pathology of NPC disease was substantially reduced in the double mutant mice. By contrast, visceral pathology was similar in the NPC and double mutant mice. Most notably, the clinical phenotype of the double mutant mice, in the absence of CNS ganglioside accumulation and associated neuronal pathology, did not improve. The authors concluded that complex ganglioside storage, while responsible for much of the neuronal pathology, did not significantly influence the clinical phenotype of the NPC model.
Langmade et al. (2006) noted that the failure to properly traffic lipoprotein cholesterol in NPC1 results in impaired oxysterol and steroid synthesis. Langmade et al. (2006) found that treatment of Npc1 -/- mice with the neurosteroid allopregnanolone and a synthetic oxysterol ligand delayed the onset of neurologic symptoms and prolonged life span, suggesting that the treatment bypassed the cholesterol trafficking defect. The therapy preserved Purkinje cells, suppressed cerebellar expression of microglial-associated genes, and reduced infiltration of microglia in cerebellar tissue. Transfection assays correlated the efficacy of treatment with activation of murine PXR (NR1I2; 603065) in vivo.
Elrick et al. (2010) generated Npc1 conditional null mutant mice. Deletion of Npc1 in mature cerebellar Purkinje cells led to an age-dependent impairment in motor tasks, including rotarod and balance beam performance. These mice did not show the early death or weight loss characteristic of global Npc1-null mice, suggesting that Purkinje cell degeneration may not underlie these phenotypes. Histologic examination revealed the progressive loss of Purkinje cells in an anterior-to-posterior gradient. This cell-autonomous neurodegeneration occurred in a spatiotemporal pattern similar to that of global knockout mice. A subpopulation of Purkinje cells in the posterior cerebellum exhibited marked resistance to cell death despite Npc1 deletion. Purkinje cells in both vulnerable and resistant subpopulations displayed no electrophysiologic abnormalities prior to degeneration. The authors concluded that Npc1 deficiency leads to cell-autonomous, selective neurodegeneration and suggested that the ataxic symptoms of NPC disease may arise from Purkinje cell death rather than cellular dysfunction.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Vertical supranuclear gaze palsy ABDOMEN Liver \- Hepatomegaly \- Neonatal jaundice \- Fatal liver failure in infancy (occasional) Spleen \- Splenomegaly Gastrointestinal \- Dysphagia NEUROLOGIC Central Nervous System \- Hypotonia \- Developmental delay \- Dysarthria \- Loss of speech \- Mental deterioration \- Dementia \- Spasticity \- Dystonia \- Seizures \- Cerebellar ataxia \- Cataplexy \- Neuronal loss, particularly of cerebellar Purkinje cells \- Neurofibrillary tangles Behavioral Psychiatric Manifestations \- Poor school performance \- Behavioral problems \- Psychosis HEMATOLOGY \- Foam cells on bone marrow biopsy \- 'Sea-blue' histiocytes PRENATAL MANIFESTATIONS \- Fetal ascites LABORATORY ABNORMALITIES \- Normal or mildly reduced sphingomyelinase activity \- Low cholesterol esterification rates \- Abnormal cholesterol homeostasis \- Foam cells in visceral organs and CNS \- Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy MISCELLANEOUS \- Genetic heterogeneity (see NPC2, 607625 ) \- Disease usually becomes apparent in early childhood \- Death usually in teenage years \- Variable phenotype \- Four major groups: early infantile, late infantile, juvenile, adult \- Earlier onset associated with faster progression and shorter life span \- Incidence of 1 in 150,000 live births in the general population \- Incidence of 1% in Yarmouth County, Nova Scotia \- Estimated carrier frequency of 10-25% in Yarmouth County, Nova Scotia \- Nova Scotian variant (type D) is considered a genetic isolate of NPC1 and is associated with a mutation in the NPC1 gene ( 607623.0004 ) MOLECULAR BASIS \- Caused by mutation in the NPC1 gene (NPC1, 607623.0001 ) ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
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*[NET]: Norepinephrine transporter
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*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
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*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
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*[DDD]: degenerative disc disease
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*[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
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*[GHB]: γ-hydroxybutyric acid
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*[a.k.a.]: also known as
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*[ADT]: androgen deprivation therapy
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*[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
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*[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
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*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
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*[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
| NIEMANN-PICK DISEASE, TYPE C1 | c0220756 | 29,507 | omim | https://www.omim.org/entry/257220 | 2019-09-22T16:24:15 | {"doid": ["0070113"], "mesh": ["D052556"], "omim": ["257220"], "icd-10": ["E75.242", "E75.243"], "orphanet": ["646"], "synonyms": ["Alternative titles", "NIEMANN-PICK DISEASE, TYPE C", "NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK", "NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM", "NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM", "NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA"], "genereviews": ["NBK1296"]} |
Congenital condition of brain, cardiovascular and eye abnormalities
PHACE Syndrome
Other namesPascual-Castroviejo type II syndrome, P-CIIS, Pascual-Castroviejo syndrome type 2[1]
SpecialtyMedical genetics
PHACE syndrome is a cutaneous condition characterized by multiple congenital abnormalities.[2][3] The mnemonic PHACE stands for Posterior fossa brain malformations, Hemangioma, Arterial lesions, Cardiac abnormalities, and Eye abnormalities.[4]
PHACE syndrome should be considered in infants with large plaque-type facial hemangiomas.[5] Children presenting with this dermatologic manifestation should receive careful ophthalmologic, cardiac, and neurologic assessment.
According to one study in infants with large hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.[6]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 4.1 Management
* 5 History
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Hemangiomas associated with PHACE syndrome are usually small or not visible at birth, but are easier to see during the first days to weeks of life. They can grow rapidly. Hemangiomas linked with PHACE syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.
Patients who suffer from PHACE syndrome may also experience symptoms such as:
* Anomalies of the aortic arch
* Narrowing, abnormal growth, or absence of a major cerebral artery
* Presence of the trigeminal artery, an important artery that supplies the brain with nutrients during fetal development, as well as others after birth
* Abnormalities of the cerebellum
* Blood clots in the blood vessels around the heart and brain
* Abnormal structure of the back of the eye
* Abnormal sternum
* Gaps in the wall between the left and right ventricles of the heart
* Anomalies of the pituitary and thyroid glands [7]
### Complications[edit]
As it grows, the hemangioma can break down skin, distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. These could include developmental delay, seizures, headaches, and abnormal muscle tone if the brain is involved.
## Cause[edit]
The cause of PHACE syndrome is currently unknown. Researchers believe that it is caused by a postzygotic somatic mosaic mutation or a mutation that can occur on any autosomal chromosome. Due to its mosaic pattern it may be harder to determine the cause since a fraction of the cells in the body contain the mutated DNA while the rest contain unaffected strands. The disorder may also be caused by several genetic, but also environmental factors.[8]
## Diagnosis[edit]
Since the initial sign of PHACE syndrome is usually a large facial hemangioma, infants that are born with such a sign should be further analyzed to diagnose or rule out PHACE syndrome. A series of radiologic tests such as a magnetic resonance images (MRI) or a magnetic resonance angiograms (MRA) of the head, neck, and chest. Following the series of imaging tests, the physician should perform an echocardiogram on the infant to observe any abnormalities. If there are any abnormalities detected on these scans, the infant may suffer from PHACE syndrome.[9]
## Treatment[edit]
Due to the disorders rare occurrence there is no standardized treatment or protocol. There were no clinical trials conducted on patients that suffer from PHACES syndrome, therefore, we are unaware of the safety or potential treatment for such a condition. At this moment we can find a series of single case reports of patients.
Physicians treat specific syndromes of the disorder in order to improve the lives of patients. Testament usually involves a collaboration of many medical professionals. These medical professionals include, but are not limited to: dermatologists, doctors who have specialized in diagnosing and treating skin disorder; ophthalmologists, specialists of the eyes; cardiologist, doctors of the heart; endocrinologists, specialists of the endocrine system; neurologists and or neurosurgeons, specialist in treating and diagnosing conditions of the brain; otolaryngologists, specialists of the ear, nose, and throat; dentists, who are specialized in treating conditions of the teeth, speech pathologists; psychiatrists, and many others.[10]
### Management[edit]
PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pay close attention to how these children develop throughout the school age period.[11][12]
PHACE syndrome Handbook - Dr. Beth Drolet[13]
In 2013, the PHACE syndrome Community was formed. The non-profit entity was developed to raise awareness about the condition, support patients and families of those with the condition and raise money for research into causes and treatment.
## History[edit]
PHACE syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:
* Posterior fossa abnormalities and other structural brain abnormalities
* Hemangioma(s) of the cervical facial region
* Arterial cerebrovascular anomalies
* Cardiac defects, aortic coarctation and other aortic abnormalities
* Eye anomalies
Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe."
In 1993, an association between large facial hemangiomas and brain defects among 9 subjects was reported.[14] 3 years later, a larger case study was published showing a wider spectrum of grouped malformations.[15] The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr. Ilona Frieden in 1996, making it a newly described syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies.
Hemangioma growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries usually are able to make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects caused, may remain. Migraines are common, as are developmental delays.
## See also[edit]
* Sternal cleft
* Rosenthal–Kloepfer syndrome
* List of cutaneous conditions
## References[edit]
1. ^ "PHACE syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 April 2019.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ Hartemink, David A.; Chiu, Yvonne E.; Drolet, Beth A.; Kerschner, Joseph E. (February 2009). "PHACES syndrome: a review". International Journal of Pediatric Otorhinolaryngology. 73 (2): 181–7. doi:10.1016/j.ijporl.2008.10.017. PMID 19101041.
4. ^ "PHACE Syndrome". Cincinnati Children's Hospital Medical Center. Retrieved 2018-10-25.
5. ^ Metry, DW; Dowd, CF; Barkovich, AJ; Frieden, IJ (2001). "The many faces of PHACE syndrome". The Journal of Pediatrics. 139 (1): 117–23. doi:10.1067/mpd.2001.114880. PMID 11445804.
6. ^ Haggstrom, AN; Garzon, MC; Baselga, E; Chamlin, SL; Frieden, IJ; Holland, K; Maguiness, S; Mancini, AJ; McCuaig, C; Metry, DW; Morel, K; Powell, J; Perkins, SM; Siegel, D; Drolet, BA (2010). "Risk for PHACE syndrome in infants with large facial hemangiomas". Pediatrics. 126 (2): e418–26. doi:10.1542/peds.2009-3166. PMID 20643720.
7. ^ "PHACE Symptoms & Causes". Boston Children's Hospital. Retrieved 2018-10-24.
8. ^ "PHACE Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-25.
9. ^ "PHACE syndrome". Children's Hospital of Wisconsin. Retrieved 2018-10-25.
10. ^ "PHACE Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-25.
11. ^ "PHACE Syndrome Community".
12. ^ Drolet, Beth. "PHACE Syndrome". Children's Hospital of Wisconsin. Retrieved 20 January 2015.
13. ^ Drolet, Beth. "PHACE Syndrome handbook". Children's Hospital of Wisconsin. Retrieved 20 January 2015.
14. ^ Reese, V; Frieden, IJ; Paller, AS; Esterly, NB; Ferriero, D; Levy, ML; Gellis, SE; Siegfried, EC (March 26, 1993). "Association of facial hemangioma with Dandy-Walker and other posterior fossa malformations". Journal of Pediatrics. 122 (3): 379–384. doi:10.1016/s0022-3476(05)83420-1. PMID 8441091. Retrieved 10 October 2016.
15. ^ Frieden, IL; Reese, V; Cohen, D (Mar 1996). "PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities". Archives of Dermatology. 132 (3): 307–311. doi:10.1001/archderm.132.3.307. PMID 8607636.
## External links[edit]
Classification
D
* OMIM: 606519
* DiseasesDB: 34139
*[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
| PHACE syndrome | c2242617 | 29,508 | wikipedia | https://en.wikipedia.org/wiki/PHACE_syndrome | 2021-01-18T18:50:32 | {"gard": ["8338"], "umls": ["C2242617"], "orphanet": ["42775"], "wikidata": ["Q3377927"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-63 (MRT63) is caused by homozygous mutation in the CAMK2A gene (114078) on chromosome 5q32. One such family has been reported.
Clinical Features
Chia et al. (2018) reported 2 sibs, born of consanguineous parents from Jordan, with a neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, and seizures with EEG abnormalities suggestive of myoclonic seizures. At ages 11 and 14 years, the patients were unable to walk or speak, but had eye contact. They also exhibited axial hypotonia with appendicular spasticity. The patients had poor overall growth, but did not have dysmorphic features. Brain imaging was normal.
Inheritance
The transmission pattern of MRT63 in the family reported by Chia et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of consanguineous parents from Jordan, with MRT63, Chia et al. (2018) identified a homozygous missense mutation in the CAMK2A gene (H477Y; 114078.0006). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient-derived fibroblasts that were reprogrammed into neurons showed significantly reduced spontaneous spikes and firing rate compared to controls, consistent with a loss of function. Additional in vitro functional expression studies in HEK293 cells showed that the mutant protein was expressed at lower levels compared to wildtype, and impaired oligomerization and assembly of the multimeric holoenzyme. The findings were consistent with a partial loss of function, which could explain why the heterozygous parents were unaffected. Transfection of the mutation into unc43-null C. elegans failed to rescue neuronal and synaptic defects, also consistent a loss of function.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor overall growth MUSCLE, SOFT TISSUES \- Hypotonia, axial NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Intellectual disability, severe \- Inability to walk \- Absence of speech \- Myoclonic seizures \- Spasticity MISCELLANEOUS \- One consanguineous Jordanian family has been reported (last curated August 2018) MOLECULAR BASIS \- Caused by mutation in the calcium/calmodulin-dependent protein kinase II-alpha gene (CAMK2A, 114078.0006 ) ▲ 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
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | None | 29,509 | omim | https://www.omim.org/entry/618095 | 2019-09-22T15:43:38 | {"omim": ["618095"], "orphanet": ["178469"], "synonyms": []} |
Coblentz and Mathivat (1952) described 2 sisters with pulmonic stenosis. Lamy et al. (1957) found increased parental consanguinity in pulmonic stenosis and described 1 instance of 2 affected sibs. Consanguinity effect is to be expected of a multifactorial trait, so that this, like the occurrence of affected sibs, is not proof of simple recessive inheritance. David (1974) observed a family with 4 affected persons in 3 generations: grandfather, 2 of his daughters, and a son of 1 of the daughters. McCarron and Perloff (1974) observed father and daughter with classic valvular pulmonic stenosis. Pulmonic stenosis due to myxomatous dysplasia of the valve occurs as part of the Noonan syndrome (163950), which is clearly mendelian. Patterson et al. (1981) did genetic studies of hereditary pulmonary valve dysplasia in beagles. They concluded that the disorder is not a simple mendelian trait and that genes at more than one locus predispose to abnormal development of the pulmonary valve. The risk increased with inbreeding. They maintained that so-called typical pulmonary stenosis is fundamentally the same as pulmonary valve dysplasia.
Cardiac \- Pulmonic stenosis Inheritance \- ? Autosomal recessive, more likely 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
| PULMONIC STENOSIS | c0162164 | 29,510 | omim | https://www.omim.org/entry/265500 | 2019-09-22T16:23:00 | {"doid": ["6420"], "omim": ["265500"], "orphanet": ["3189"]} |
A number sign (#) is used with this entry because Pendred syndrome (PDS) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene (605646) on chromosome 7q.
There is evidence that Pendred syndrome may also rarely be caused by digenic inheritance of a heterozygous mutation in the SLC26A4 gene and a heterozygous mutation in the FOXI1 gene (601093).
Mutation in the SLC26A4 gene can also cause autosomal recessive deafness-4 (DFNB4; 600791) with enlarged vestibular aqueduct (EVA).
Description
Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997).
For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400).
Clinical Features
A mild type of organification defect is associated with congenital deafness. Patients show only partial discharge of iodide (25 to 50%) when thiocyanate or perchlorate is given (Fraser et al., 1960). Their thyroids are moderately enlarged from childhood. Patients are usually euthyroid, although an exaggerated response to thyrotropin-releasing hormone (TRH; 613879) suggests a compensated hypothyroidism (Gomez-Pan et al., 1974); mental retardation has been reported (Thompson et al., 1970). Massa et al. (2003) found that a solitary thyroid nodule may be the presenting feature. Thyroid carcinoma has been observed (Thieme, 1957; Elman, 1958; Milutinovic et al., 1969); because of the characteristically 'wild' histology, malignancy may be incorrectly diagnosed. The deafness is neurosensory in type and sometimes associated with defective vestibular function. The deafness may be present at birth or develop in early childhood. Batsakis and Nishiyama (1962) estimated that Pendred syndrome accounts for 1 to 10% of hereditary deafness.
Illum et al. (1972) reported 15 cases. They showed a pedigree in which 8 proven cases and several presumed cases occurred in 3 generations of a family in a pseudodominant pattern (same family as that of Johnsen, 1958). In 1 patient, histologic examination showed a Mondini type malformation of the cochlea (i.e., only the basal cochlear turn was retained while the apical turns formed a common cavity). In 6 and perhaps 7 of the other 14 cases, the same defect was demonstrated by tomography of the temporal bones in the axial-pyramidal projection. The authors suggested that peroxidase deficiency may be responsible for the cochlear lesion as well as the thyroid defect.
Peroxidase activity is normal in Pendred syndrome (Burrow et al., 1973; Ljunggren et al., 1973; Cave and Dunn, 1975). There appear to be different varieties of Pendred syndrome, because Hollander et al. (1964) found a defect involving, apparently, an abnormal condensation of iodotyrosines to form iodothyronines, rather than an inadequate iodination of tyrosine. Milutinovic et al. (1969) found about 80% of the protein-bound radioiodine in the normal 19S human thyroglobulin fraction from a Pendred gland. On the other hand, Medeiros-Neto et al. (1968) found less than 15% in the 19S fraction. Desai et al. (1974) found a 15.2-16.8S radioiodinated thyroidal protein with immunologic properties of normal thyroglobulin. Fraser (1967) raised the question of whether the organification defect without deafness, as described by Stanbury and Hedge (1950) and later by Furth et al. (1967), was different from the organification defect with deafness as described by Pendred. He proposed that variability in severity of the same defect may be involved and supported this contention with a description of a patient with unilateral deafness whose sister had Pendred syndrome and bilateral deafness. Also, cases of the full syndrome and cases with near-normal hearing occurred in the same family.
Cremers et al. (1998) described a boy whose bilateral sensorineural hearing loss progressed rapidly from about 50 to 60 decibels at the age of 3 years and 3 months to more than 100 decibels at the age of 4 years and 4 months. A search for the cause of the progressive hearing loss led to discovery of dysplasia of the cochlea and a widened vestibular aqueduct. Thyroid function tests were normal, but thyroglobulin (TG; 188450) was elevated. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of the iodine in the thyroid gland. A widened vestibular aqueduct occurs also in branchiootorenal dysplasia (113650).
Phelps et al. (1998) presented data on the radiologic malformations of the ear in 40 patients, all complying with strict diagnostic criteria for Pendred syndrome. Deficiency of the interscalar septum in the distal coils of the cochlea (Mondini deformity) was found to be common but probably not a constant feature of Pendred syndrome. On the other hand, enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct was present in all 20 patients examined by MRI. Phelps et al. (1998) concluded that thin section high resolution MRI on a T2 protocol in the axial and sagittal planes is the imaging investigation of choice in this disorder. They concluded that 'if there is uncertainty about cochlear malformation being a constant feature of Pendred syndrome, there can be little doubt as to the importance of enlarged vestibular aqueduct, endolymphatic sac, and endolymphatic duct, which were almost constant features' in their series.
Neither Pendred syndrome patients nor pendrin (605646)-deficient knockout mice had been reported to develop overt acid-base disturbances, such as metabolic alkalosis. Royaux et al. (2001) demonstrated that pendrin is an apical anion transporter in intercalated cells of the cortical collecting ducts of the kidney and has an essential role in renal bicarbonate secretion. The fact that patients have not shown abnormalities with reference to the kidney probably reflects the fact that the kidney has other means of regulating bicarbonate excretion. Overt abnormalities in acid-base balance in pendrin-deficient humans may be induced under conditions of extensive alkali loading or severe metabolic alkalosis.
Pathogenesis
McKusick (1986) noted a possible relationship between progression of deafness and the occurrence of trauma. Lesions in the organ of Corti have been produced in the chick and rat by administration of propylthiouracil during embryogenesis. The lesion did not occur when thyroxine was given with the antithyroid drug (Bargman and Gardner, 1967).
Sheffield et al. (1996) stated that very few in vitro studies of thyroid tissue from Pendred patients had previously been reported, and no biochemical abnormality had been found consistently. Therefore, the possibility of a circulating inhibitor of organification had not been previously excluded. By measuring the major steps of thyroid hormonogenesis simultaneously in cryopreserved cultured cells from Pendred patients, Sheffield et al. (1996) conclusively showed the presence of a post-cAMP and post-iodine-uptake defect. Furthermore, they found that the magnitude of the organification defects was similar to the decrease in T3 secretion, suggesting that in Pendred syndrome patients iodide organification may be the rate-limiting step in thyroid hormone secretion.
Taylor et al. (2002) investigated the effect of 9 SLC26A4 missense mutations on pendrin localization and iodide transport. Transient expression of green fluorescent protein-tagged pendrin mutant constructs in mammalian cell lines demonstrated appropriate trafficking to the plasma membrane for only 2 mutants. The remaining SLC26A4 mutants appeared to be retained within the endoplasmic reticulum following transfection. Iodide efflux assays were performed. The results indicated loss of pendrin iodide transport for all mislocalizing mutations. However, SLC26A4 mutants are associated with variable thyroid dysfunction in affected subjects. The authors concluded that additional genetic and/or environmental factors influence the thyroid activity in Pendred syndrome.
Diagnosis
The perchlorate discharge test, the gold-standard investigation for Pendred syndrome, is nonspecific, and in the absence of alternative means of confirming the diagnosis, its sensitivity is unknown. Reardon et al. (1997) used the mapping of the Pendred syndrome gene to 7q to identify pedigrees, and assessed the prevalence of clinical parameters of disease in affected individuals. Cosegregation between disease and the locus on 7q was found in 36 familial cases. Clinical and investigative findings were compared in 18 index cases versus 18 affected sibs. The overall prevalence of goiter was 73%, higher in index cases (94%) than in sibs (56%), many of whom had not previously been considered to have the condition. One perchlorate discharge test was false-negative (2.9%). Radiologic malformations of the cochlea were identified in 86% of cases. Reardon et al. (1997) concluded that securing a diagnosis of Pendred syndrome may be difficult, especially in the single case. They noted that the perchlorate discharge test, although valuable, is difficult to undertake in the younger patient, and radiology may assist in diagnosing such patients.
Reardon et al. (1999) performed perchlorate discharge tests in 57 individuals with Pendred syndrome. In 52 (21 males and 31 females, age range 9 to 54 years) a discharge of greater than 10% of radioiodide was observed (less than 10% is regarded as normal in control subjects). Goiter was present in 43 (83%) of the cohort and generally developed after the age of 10 years. Fifty-six percent remained euthyroid, and 19 (44%) had objective evidence of hypothyroidism. Reardon et al. (1999) concluded that thyroid dysfunction in Pendred syndrome is variable, and that inclusion of goiter as a diagnostic requirement will lead to underascertainment.
Reardon et al. (2000) stated that enlargement of the vestibular aqueduct, a radiologic marker, should be considered as the most likely presentation of Pendred syndrome. They found that 49 of 57 cases of deafness with enlarged vestibular aqueducts had signs of Pendred syndrome. They suggested that Pendred syndrome might be recharacterized as deafness with enlargement of the vestibular aqueduct that is sometimes associated with goiter.
Masmoudi et al. (2000) found that of 23 members of a family with Pendred syndrome, all who underwent CT scan of the inner ear had a widened vestibular aqueduct. However, only 11 of the patients had goiter; 8 of these patients who were tested had a normal result on perchlorate discharge test. This finding called into question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome. Masmoudi et al. (2000) suggested the use of molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphologic anomaly even in the absence of thyroid goiter.
Population Genetics
Fraser (1965) estimated the frequency in the British Isles to be about 0.000075.
Pourova et al. (2010) screened the SLC26A4 gene in 303 Czech patients with early-onset hearing loss. The patients were divided into 3 groups: 22 with EVA and/or Mondini malformation on imaging, 220 patients without imaging available, and 61 patients with EVA/Mondini-negative imaging studies. Biallelic SLC26A4 mutations were found in 6 (27.3%) patients in the first group, 2 (0.9%) patients in the second group, and none (0%) in the third group; 4 of the 8 patients with biallelic mutations had goiter, consistent with Pendred syndrome. Monoallelic SLC26A4 mutations were found in 3 (13.6%) patients in the first group, 12 (5.5%) patients in the second group, and 3 (4.9%) patients in the third group. The most frequent mutations were V138F (605646.0024) and L445W (605646.0018), in 18% and 8.9% alleles, respectively. Among 13 patients with bilateral EVA, 6 (46%) carried biallelic mutations. No biallelic mutations were found in EVA-negative patients, but 4.9% had monoallelic mutations. Overall, biallelic mutations were found in only 2.7% of all patients, but were more common in familial cases. The findings also suggested that a single SLC25A4 mutation may contribute to the phenotype, perhaps in concert with mutations in other genes.
Cytogenetics
Van Wouwe et al. (1986) found Pendred syndrome in a severely retarded girl with duplication-deficiency: duplication in 10p and deficiency in distal 8q. The father carried a de novo balanced translocation between 8q and 10p: t(8;10)(q24;p11). The authors raised the possibility that Pendred syndrome maps to 8q24-qter. It should be noted that the structural gene for thyroglobulin is in this segment. Although the proposita had deafness and hypothyroidism consistent with Pendred syndrome, as well as a marked reduction of (123)I uptake on perchlorate test, is it possible she has a thyroglobulin synthesis defect such as that discussed in 274900 and that the deafness has other cause?
Mapping
By linkage studies, Gausden et al. (1996) excluded the thyroid peroxidase gene (606765) on chromosome 2 as the site of the mutation in their families with Pendred syndrome. This confirmed that at least 1 further step is required for complete organification of iodide within the thyroid. Observations that when both parents are affected there was no complementation for the disease phenotype suggested homogeneity. Coyle et al. (1996) excluded at least 8 autosomal recessive loci for nonsyndromic deafness that had been reported, although up to that time none had been cloned. However, they did find significant linkage to the DFNB4 locus (600791) located on 7q31. Twelve families with 2 or more affected individuals with Pendred syndrome were studied.
Sheffield et al. (1996) used a DNA-pooling strategy in an inbred kindred with 5 affected sibs and 2 other affected members to perform a genomewide linkage search for the Pendred syndrome disease locus. They mapped the locus to an approximately 9-cM interval on chromosome 7 in the 7q21-q34 region.
Gausden et al. (1997), who concluded that the PDS locus is situated at 7q31 where a form of nonsyndromic deafness, DNFB4, has also been mapped, studied 5 kindreds and narrowed the locus to an interval between D7S501 and D7S525, separated by a genetic distance estimated to be 2.5 cM.
Coucke et al. (1997) concluded that the candidate region of approximately 1.7 cM is flanked by markers D7S501 and D7S692.
Molecular Genetics
For a more complete discussion of the molecular genetics of Pendred syndrome, see the entry for the SLC26A4 gene (605646).
Everett et al. (1997) used a positional cloning strategy to identify the gene (SLC26A4) mutated in Pendred syndrome. In PDS families, Everett et al. (1997) found 3 apparently deleterious mutations, each segregating with the disease in the respective families in which they occurred (e.g., 605646.0001). Everett et al. (1997) speculated that Pendred syndrome may be more common than previously thought. They pointed out that another recessive locus for deafness, designated DFNB4 (see EVA, 600791), maps to 7q31, the same region as the PDS gene. They considered it likely that the DFNB4 individuals reported actually have Pendred syndrome, rather than mutations in another gene.
In the index patient with PDS from a consanguineous kindred from northeastern Brazil, Kopp et al. (1999) found homozygosity for a 279delT mutation (605646.0016) in exon 3 of the PDS gene. The index patient showed the classic triad of deafness, positive perchlorate test, and goiter. Two other patients with deafness were homozygous for this mutation; 19 were heterozygous and 14 were homozygous for the wildtype allele. Surprisingly, 6 deaf individuals in this kindred were not homozygous for the 279delT mutation; 3 were heterozygous and 3 were homozygous for the wildtype allele, suggesting a probable distinct genetic cause for their deafness. The authors concluded from comparison of phenotypes and genotypes that phenocopies generated by distinct environmental and/or genetic causes were present in this kindred and that the diagnosis of PDS may be difficult without molecular analysis.
The identification of the disease gene for Pendred syndrome prompted the need to reevaluate the syndrome to identify possible clues for the diagnosis. To this purpose, Fugazzola et al. (2000) conducted a molecular analysis and full clinical, biochemical, and radiologic examination in 3 Italian families presenting with clinical features of Pendred syndrome. A correlation between genotype and phenotype was found in 1 patient with enlargement of vestibular aqueduct and endolymphatic duct and sac at magnetic resonance imaging. This subject was a compound heterozygote for a deletion in SLC26A4 exon 10 (1197delT; 605646.0020) and a novel insertion in exon 19 (2182-2183insG; 605646.0021). The authors concluded that their study demonstrates the value of the combination of clinical/radiologic and genetic studies in the diagnosis of Pendred syndrome.
The hearing loss that occurs in Pendred syndrome or in isolation as DFNB4 is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. Campbell et al. (2001) found mutations in 5 of 6 multiplex families with EVA (83%) and in 4 of 5 multiplex families with Mondini dysplasia (80%), implying that mutations in the SLC26A4 gene are the major genetic cause of these temporal abnormalities. In their analyses of Pendred syndrome and DFNB4, they found that the 2 most common mutations, T416P (605646.0006) and IVS8+1G-A (605646.0007), were present in 22% and 30% of families, respectively.
Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.
Genotype/Phenotype Correlations
Tsukamoto et al. (2003) screened 10 Japanese families with Pendred syndrome, 32 Japanese families with bilateral sensorineural hearing loss associated with enlarged vestibular aqueduct (EVA), and 96 unrelated Japanese controls for mutations in the SLC26A4 gene. They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA. None of their patients had the Mondini malformation. Tsukamoto et al. (2003) noted that the same combination of mutations resulted in variable phenotypic expression, suggesting that these 2 conditions are part of a continuous spectrum of disease.
Pryor et al. (2005) evaluated the clinical phenotype and SLC26A4 genotype of 39 patients with EVA from 31 families, definitively classifying 29 individuals. All 11 PDS patients had 2 mutant SLC26A4 alleles, whereas all 18 nonsyndromic EVA patients had either 1 or no SLC26A4 mutant alleles. Pryor et al. (2005) concluded that PDS and nonsyndromic EVA are distinct clinical and genetic entities, with PDS being a genetically homogeneous disorder caused by biallelic SLC26A4 mutations, and at least some cases of nonsyndromic EVA being associated with a single SLC26A4 mutation. They noted that the detection of a single mutant SLC26A4 allele is incompletely diagnostic without additional clinical evaluation to differentiate PDS from nonsyndromic EVA.
Recessive mutations in the anion transporter gene SLC26A4 are responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles. Yang et al. (2007) identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1 (601093), which is a transcriptional activator of SLC26A4. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel -103T-C mutation (605646.0027) in this regulatory element, which interfered with FOXI1 binding and completely abolished FOXI1-mediated transcriptional activation. They also identified 2 Pendred and 4 EVA patients with heterozygous mutations in FOXI1 that compromised its ability to activate SLC26A4 transcription; 1 of the latter EVA patients was a double heterozygote who also carried a heterozygous mutation in the SLC26A4 gene (see 605646.0028 and 601093.0001). This finding was consistent with their observation that EVA occurs in the mouse mutant doubly heterozygous for mutations in these 2 genes, and the results supported a dosage-dependent model for the molecular pathogenesis of Pendred syndrome and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. Yang et al. (2007) stated the this was the first example of digenic inheritance to be verified as a cause of human deafness.
Animal Model
Everett et al. (2001) generated a Pds knockout mouse. Pds -/- mice are completely deaf and also display signs of vestibular dysfunction. The inner ears appear to develop normally until embryonic day 15, after which time severe endolymphatic dilatation occurs, reminiscent of that seen radiologically in deaf individuals with PDS mutations. Additionally, in the second postnatal week severe degeneration of sensory cells and malformation of otoconia and otoconial membranes occur, as revealed by scanning electron and fluorescence confocal microscopy. No thyroid abnormality was noted in this particular mouse strain (in a 129Sv/Ev background).
History
This syndrome was described by Vaughan Pendred (1896). It was exactly a century later that Coyle et al. (1996) and Sheffield et al. (1996) showed that the disorder maps to chromosome 7q.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Congenital neurosensory deafness \- Vestibular function defect (decreased in some, normal in other patients) \- Cochlear malformation Neck \- Goiter ENDOCRINE FEATURES \- Euthyroid \- Hypothyroid \- Compensated hypothyroidism LABORATORY ABNORMALITIES \- Thyroid hormone organification defect MISCELLANEOUS \- Thyroid carcinoma MOLECULAR BASIS \- Caused by mutation in the solute carrier family 26, member 4 gene (SLC26A4, 605646.0001 ) ▲ Close
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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
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*[POR]: Portugal
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*[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
| PENDRED SYNDROME | c0271829 | 29,511 | omim | https://www.omim.org/entry/274600 | 2019-09-22T16:21:42 | {"doid": ["0060744"], "mesh": ["C536648"], "omim": ["274600"], "icd-10": ["E07.1"], "orphanet": ["705"], "synonyms": ["Alternative titles", "DEAFNESS WITH GOITER", "GOITER-DEAFNESS SYNDROME", "THYROID DYSHORMONOGENESIS 2B", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B"], "genereviews": ["NBK1434", "NBK1467"]} |
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.
## Frequency
Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.
## Causes
Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot.
Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia.
### Learn more about the genes associated with Congenital afibrinogenemia
* FGA
* FGB
* FGG
## Inheritance Pattern
Congenital afibrinogenemia 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. The parents have about half the normal level of fibrinogen in their blood but typically do not show signs and symptoms of the condition.
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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
| Congenital afibrinogenemia | c2584774 | 29,512 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia/ | 2021-01-27T08:25:32 | {"gard": ["5761"], "mesh": ["D000347"], "omim": ["202400"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Stickler syndrome type V (STL5) is caused by homozygous mutation in the COL9A2 gene (120260) on chromosome 1p34. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300.
Clinical Features
Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome. Affected family members had high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. None of the family members was known to have cleft palate, and although there was short stature in childhood, adult height was thought to be appropriate for this family.
Molecular Genetics
In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260.0006) in an affected sister and brother. The deletion was present in heterozygosity in the unaffected brother and parents.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature in childhood \- Adult height, average HEAD & NECK Ears \- Hearing loss, sensorineural, mild to moderate Eyes \- High myopia \- Vitreoretinal degeneration \- Retinal detachment MOLECULAR BASIS \- Caused by mutation in the alpha-2 subunit of collagen type IX gene (COL9A2, 120260.0006 ) ▲ 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
| STICKLER SYNDROME, TYPE V | c0265253 | 29,513 | omim | https://www.omim.org/entry/614284 | 2019-09-22T15:55:52 | {"omim": ["614284"], "orphanet": ["250984", "828"], "synonyms": [], "genereviews": ["NBK1302"]} |
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this 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
| Helicoid peripapillary chorioretinal degeneration | c1862382 | 29,514 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86813 | 2021-01-23T18:19:14 | {"mesh": ["C566236"], "omim": ["108985"], "umls": ["C1862382"], "icd-10": ["H31.2"], "synonyms": ["Atrophia areata", "SCRA", "Sveinsson chorioretinal atrophy"]} |
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
*[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
| Lafora disease | c0751783 | 29,515 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=501 | 2021-01-23T18:40:58 | {"gard": ["8214"], "mesh": ["D020192"], "omim": ["254780"], "umls": ["C0751783"], "icd-10": ["G40.3"], "synonyms": ["EPM2", "PME type 2", "Progressive myoclonic epilepsy type 2", "Progressive myoclonus epilepsy type 2"]} |
A number sign (#) is used with this entry because of evidence that multiple types of cataract (CTRCT34) are caused by homozygous mutation in the FOXE3 gene (601094) on chromosome 1p33.
Description
Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.
Clinical Features
Butt et al. (2007) reported 2 unrelated consanguineous Pakistani families with autosomal recessive congenital cataract. Cataracts were present at birth or developed in infancy. Medical records of slit-lamp examinations in 1 family (PKCC009) indicated that the 5 affected sibs had bilateral membranous cataracts accompanied by other ocular abnormalities, including corneal opacity, microcornea, and nystagmus. In the other family (PKCC039), 7 affected sibs had bilateral posterior subcapsular cataract without other accompanying abnormalities. Butt et al. (2007) noted that membranous cataract can represent the end stage of several forms of severe cataract, usually associated with rupture of the lens capsule or absorption of the lens.
Mapping
In 2 unrelated consanguineous Pakistani families segregating autosomal recessive congenital cataract, in which linkage to known recessive cataract loci had been excluded by haplotype analysis, Butt et al. (2007) performed a genomewide scan and obtained maximum 2-point lod scores (theta = 0.0) at markers D1S255 and D1S2797 (3.81 and 4.07, respectively, for family PKCC009; and 2.36 and 4.32, respectively, for family PKCC039). Fine mapping narrowed the critical region to a 20.76-cM (20.80-Mb) interval flanked by markers D1S2729 and D1S2890 on chromosome 1p34.3-p32.2. Butt et al. (2007) stated that this region is distinct from the autosomal dominant cataract loci previously mapped to chromosome 1p (see 115665 and 116600).
Molecular Genetics
In 2 unrelated consanguineous Pakistani families segregating autosomal recessive congenital cataract mapping to chromosome 1p34.3-p32.2, originally studied by Butt et al. (2007), Khan et al. (2016) sequenced the FOXE3 gene and identified 2 different homozygous missense mutations: N117K (601094.0005) in family PKCC009, and E103K (601094.0006) in family PKCC039. The mutations segregated fully with disease in the respective families and were not found in 144 Pakistani control chromosomes, 24 Saudi Arabian control chromosomes, or in the 1000 Genomes Project, NHLBI Exome Sequencing Project, or dbSNP databases. Exome analysis excluded the presence of any other pathogenic variant within the critical interval of each family that could explain the disease phenotype.
*[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
| CATARACT 34, MULTIPLE TYPES | c4310809 | 29,516 | omim | https://www.omim.org/entry/612968 | 2019-09-22T16:00:09 | {"doid": ["0110230"], "mesh": ["C537884"], "omim": ["604229", "612968"], "orphanet": ["708"], "synonyms": ["Alternative titles", "CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA", "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3", "Peters congenital glaucoma"]} |
Mutation that interferes with yellow pigment
An axanthic green frog (Lithobates clamitans). Axanthism is most common in species of Ranidae.
Yellow-collared lovebirds (Agapornis personatus) are a good example of the effects of axanthism. The feathers that would be normally green are blue, and the feathers that would be yellow are white.
Axanthism is a mutation that interferes with an animal's ability to produce yellow pigment. The mutation affects the amount of xanthophores and carotenoid vesicles, sometimes causing them to be completely absent.[1] Erythrophores and iridophores, which are responsible for red coloration and light reflecting pigments respectively, may also be affected.[2] Axanthism is most obvious in green animals, specifically amphibians, making them appear blue. Green coloration in animals is caused by iridiphores reflecting blue wavelengths of light back through the carotenoids in the xanthophores.[3] In the absence of xanthophores and carotenoids, the blue light is unaltered and reflected back normally.[4] Animals that are normally yellow will appear white if affected with axanthism.
While axanthism commonly makes green animals blue, it can also make the animal gray or even black, making it appear as if the animal has melanism; though they can be distinguished by how axanthic animals are slightly lighter and how melanistic animals produce more melanophores.[5] When iridophores are affected by axanthism, the animal typically becomes duller or darker in coloration due to a lesser amount of light reflected.[2] Typically it is only the skin that is affected, and the eyes still have iridophores.
The opposite of axanthism is xanthochromism, which is an excess of yellow coloration.
## In Amphibians[edit]
There are three basic types of axanthism in amphibians: complete to partial blue coloration, complete or partial gray or dark coloration, and normal coloration with black eyes.[2] These are not distinct categories, and there can be amphibians that have a combination of these. The first one is most common in the family Ranidae, which is also the family that happens to be most commonly affected by axanthism. It is not yet known exactly why axanthism occurs in amphibians and whether it is genetic or environmental. Axanthism seems to be most common in North America, and is more common in Northern regions; there have been over one hundred reports of blue green frogs (Lithobates clamitans), but only one is from the southeastern United States.[6] Axanthism is also most common in frogs, with salamanders and newts having almost no cases.
Axanthic individuals are usually at higher risk at predation by sight predators compared to normal amphibians. Axanthism can affect the camouflage and aposematic patterns of amphibians, making these individual stand out more or render their defenses useless. However, individuals that are darker than normal may have an advantage in thermoregulation, which is especially important in ectothermic vertebrates.[7]
## References[edit]
1. ^ Henle, Dubois, Klaus, Alain (15 August 2017). Studies on Anomalies in Natural Populations of Amphibians. p. 12. ISBN 978-3-89973-570-3.
2. ^ a b c Jablonski, Alena, Vlček, Jandzik, Daniel, Andrej, Petr, David (July 2014). "Axanthism in amphibians: A review and the first record in the widespread toad of the Bufotes viridis complex (Anura: Bufonidae)". Belgian Journal of Zoology. 144: 93–101 – via ResearchGate.CS1 maint: multiple names: authors list (link)
3. ^ Taylor, Bagnara, John D., Joseph T. (February 1972). "Dermal Chromatophores". American Zoologist. 12 (1): 43–62. doi:10.1093/icb/12.1.43. JSTOR 3881731.
4. ^ Berns, Narayan, Michael W., K. Shankar (October 1970). "An histochemical and ultrastructural analysis of the dermal chromatophores of the variant ranid blue frog". Journal of Morphology. 132 (2): 169–179. doi:10.1002/jmor.1051320205. hdl:2027.42/50255.
5. ^ Frost-Mason, Mason (August 1996). "What insights into vertebrate pigmentation has the axolotl model system provided?". The International Journal of Developmental Biology. 40 (4): 685–693. PMID 8877441.
6. ^ Berns, Uhler, Michael W., Lowell D. (10 September 1966). "Blue Frogs of the Genus Rana". Herpetologica. 22 (3): 181–183. JSTOR 3890680.
7. ^ Andrén, Nilson, Claes, Göran (January 2008). "Reproductive success and risk of predation in normal and melanistic colour morphs of the adder, Vipera berus". Biological Journal of the Linnean Society. 15 (3): 235–246. doi:10.1111/j.1095-8312.1981.tb00761.x – via ResearchGate.
*[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
| Axanthism | None | 29,517 | wikipedia | https://en.wikipedia.org/wiki/Axanthism | 2021-01-18T18:33:02 | {"wikidata": ["Q96372868"]} |
Hypogammaglobulinemia
SpecialtyHematology
Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are produced in the blood (thus hypo- \+ gamma \+ globulin \+ -emia). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency,[1] or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria.[2] Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of live vaccines, and take precautionary measures when traveling to regions with endemic disease or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuation of any immunoglobulin infusions needed.[3]
## Contents
* 1 Types
* 2 Symptoms and signs
* 3 Causes
* 4 Screening
* 5 Treatment
* 6 Prognosis
* 7 Research
* 7.1 Effect on viral evolution
* 8 Etymology
* 9 References
* 10 Further reading
* 11 External links
## Types[edit]
Type OMIM Gene
AGM1 601495 IGHM
AGM2 613500 IGLL1
AGM3 613501 CD79A
AGM4 613502 BLNK
AGM5 613506 LRRC8A
AGM6 612692 CD79B
## Symptoms and signs[edit]
The presenting feature of hypogammaglobulinemia is usually a clinical history of recurrent, chronic, or atypical infections. These infections include but are not limited to: bronchitis, ear infections, meningitis, pneumonia, sinus infections, and skin infections. Such infections can potentially damage organs, leading to severe complications. Other symptoms of hypogammaglobulinemia include chronic diarrhea and complications from receiving live vaccines. Certain symptoms of chronic damage may be related to recurrent infection. For example, shortness of breath, chronic cough, and sputum production may indicate the presence of bronchiectasis. Sinus pain, nasal discharge, and postnasal drip may indicate the presence of chronic sinusitis. Diarrhea and steatorrhea may indicate malabsorption.[3]
Babies with transient hypogammaglobulinemia (THI) usually become symptomatic 6 to 12 months after birth, with the symptoms usually consisting of frequent ear, sinus, and lung infections. Other symptoms include respiratory tract infections, food allergies, eczema, urinary tract infections, and intestinal infections.[2]
## Causes[edit]
Hypogammaglobulinemia can be caused by either a primary or secondary immunodeficiency. Primary immunodeficiencies are caused by a mutation or series of mutations to the genome.[2] For example, a study from 2012 found that a compound heterozygous deleterious mutation in the CD21 gene is associated with hypogammaglobulinemia. Genetic analysis revealed the patient was heterozygous for CD21, with the paternally inherited allele (also shared with one sister) having a disrupted splicing donor site at exon 6, while the maternally inherited allele had a mutation resulting in a premature stop codon in exon 13. Neither mutation was found in 100 healthy control subjects, showing the rarity of the mutations.[4] Around 300 different genes in total have been identified which account for different forms of primary immunodeficiency (PID). These different forms can affect different parts of the immune system, including immunoglobulin production. Primary immunodeficiencies usually have a delay of several years between initial clinical presentation and diagnosis. Some primary immune deficiencies include ataxia-telangiectasia (A-T), autosomal recessive agammaglobulinemia (ARA), common variable immunodeficiency (CVID), hyper-IgM syndromes, IgG subclass deficiency, isolated non-IgG immunoglobulin deficiencies, severe combined immunodeficiency (SCID), specific antibody deficiency (SAD), Wiskott-Aldrich syndrome, or x-linked agammaglobulinemia. CVID is the most common form of primary immunodeficiency. SCID is considered a medical emergency and suspected cases require immediate specialist center referral for diagnosis and treatment. It is more often that hypogammaglobulinemia develops as a result of another condition, which are called secondary or acquired immune deficiencies. These include blood cancers such as chronic lymphocytic leukemia (CLL), lymphoma, or myeloma, HIV, nephrotic syndrome, poor nutrition, protein-losing enteropathy, getting an organ transplant, or radiation therapy. This also includes medications which can cause hypogammaglobulinemia such as corticosteroids, chemotherapy drugs, or antiseizure medication.[2]
## Screening[edit]
Screening of immunoglobulin levels in relatives of CVID and IgA patients finds a familial inheritance rate of 10% to 20%. In cases where a carrier of such a mutation would like to have children, preimplantation genetic diagnosis (PGD) has been offered.[3] PGD is defined as the testing of pre-implantation stage embryos or oocytes for genetic defects. It requires in vitro fertilization, embryo biopsy, and either fluorescent in situ hybridization or polymerase chain reaction on a singular cell, making it a complex procedure. While some question the ethicality of such artificial selection, it is generally seen as an important alternative to prenatal diagnosis.[5] Prevention of secondary immunodeficiency involves monitoring patients carefully with high risk of developing hypogammaglobulinemia. This entails measuring immunoglobulin levels in patients with hematologic malignancy, or those receiving chemotherapy or immunosuppressive therapy such as rituximab.[3]
## Treatment[edit]
Protocols for different forms of primary immunodeficiency vary significantly. The aim of treatments implemented by specialist centers is usually to reduce the risk of complications. One method of treatment is by parenteral administration of gamma globulins, either monthly intravenously, subcutaneously, or more recently, by weekly self-administered hypodermoclysis. In either case, mild allergic reactions are common, and are usually manageable with oral diphenhydramine. Evidence comparing immunoglobulin replacement with no treatment is limited, and guidelines for treatment are therefore mainly derived from observational studies. Antibiotics are also frequently used as treatment. Other standard forms of treatment include a form of enzyme replacement therapy called PEG-ADA, and antibiotic treatment given for the prevention of Pneumocystis pneumonia.[3]
One emerging therapy is hematopoietic stem cell transplantation, which has been considered standard treatment for many combined primary immunodeficiencies including SCID, CD40 deficiency, CD40 ligand deficiency, and Wiskott-Aldrich syndrome, but has been extended to secondary immunodeficiencies over the last two decades.[6] Another emerging therapy is gene therapy, which has been used to treat X-linked SCID, SCID due to adenosine deaminase deficiency, and chronic granulomatous disease.[3]
## Prognosis[edit]
Early detection and treatment of hypogammaglobulinemia is known to reduce rates of morbidity and the chance of long-term pulmonary complications. Evidence shows that there is an association between achieving higher IgG levels and reduced infection frequency.[7] If hypogammaglobulinemia remains undetected and untreated, outcomes are generally poor, especially if chronic lung damage or bronchiectasis has occurred. Unfortunately, the diagnosis of hypogammaglobulinemia is often significantly delayed.[3]
## Research[edit]
In 2015, a journal article by McDermott et al. reported on a case in which chromothripsis, normally a catastrophic event in which chromosomes undergo massive deletion and rearrangement within a single stem cell's DNA, cured a patient with WHIM syndrome, a primary immunodeficiency disease. WHIM is autosomal dominant and is caused by a gain-of-function mutation of the chemokine receptor CXCR4. The mutation in CXCR4 increases signaling because it disrupts negative regulatory elements usually present, creating exaggerated functions of the receptor. The term "WHIM" is an acronym for the main manifestations of the disease: warts, hypogammaglobulinemia, recurrent infections, and myelokathexis. Myelokathexis is impaired escape of mature neutrophils from bone marrow, causing neutropenia. Patients with WHIM syndrome have severely reduced peripheral blood B cells and some reduction in peripheral blood T cells and monocytes (McDermott). The cured patient, designated WHIM-09, is a white female presented at age 58. She also presented with her two daughters, WHIM-10 (age 21) and WHIM-11 (age 23). Both daughters fulfilled all of the clinical criteria for WHIM syndrome, while WHIM-09 did not. She reported that she had had many serious infections from childhood until age 38 but had had none in the past 20 years. She has fulfilled none of the criteria for WHIM syndrome except for mild hypogammaglobulinemia since then. WHIM-09 was the first patient ever described with myelokathexis, the "M" in WHIM syndrome, and her parents and siblings showed no sign of the syndrome. Therefore, the evidence is compatible with a WHIM mutation occurring de novo in patient WHIM-09, an autosomal dominant transition to two of her three daughters, and a spontaneous and complete remission in WHIM-09. This provides the first evidence that chromothripsis may result in clinical benefit, in particular, the cure of a genetic disease. If a cell with chromothripsis dies, it is clinically undetectable, making the true frequency of its occurrence hard to determine. Therefore, it is only detected if it acquires a strong selective advantage creating a clinically apparent clonal population harboring the same pattern of deletions and arrangements. This results in either cancer, or if the location is fortuitous, the cure of a genetic condition as occurred in patient WHIM-09.[8]
### Effect on viral evolution[edit]
One study of the genomic variation in the hepatitis C virus in patients with and without hypogammaglobulinemia found that patients with hypogammaglobulinemia had fewer nucleotide substitutions per year than the control patients, suggesting that in the absence of selective pressure caused by the immune system, the frequency of the occurrence of genetic variation in the major viral species is reduced. They used five control patients and four patients with CVID, a particularly severe form of hypogammaglobulinemia. The control patients had a mean nucleotide rate-of-change of 6.954 nucleotide substitutions per year while the patients with CVID had 0.415 nucleotide substitutions per year. While the mutations still occur in the patients with CVID, they tend to remain as a minor species in the absence of immune selection.[9]
## Etymology[edit]
"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,[10] but the distinction is not usually clinically relevant.
"Hypogammaglobulinemia" is distinguished from dysgammaglobulinemia, which is a reduction in some types of gamma globulins, but not others.[11]
## References[edit]
1. ^ "common variable immunodeficiency" at Dorland's Medical Dictionary
2. ^ a b c d Watson, Stephanie "Hypogammaglobulinemia." Healthline, 20 Feb. 2018, https://www.healthline.com/health/hypogammaglobulinemia.
3. ^ a b c d e f g "Hypogammaglobulinemia." (2018). Retrieved from https://online.epocrates.com/diseases/105851/Hypogammaglobulinemia/Prognosis
4. ^ Thiel, Jens; Kimmig, Lucas; Salzer, Ulrich; Grudzien, Magdalena; Lebrecht, Dirk; Hagena, Tina; Draeger, Ruth; Völxen, Nadine; Bergbreiter, Astrid; Jennings, Stephanie; Gutenberger, Sylvia; Aichem, Annette; Illges, Harald; Hannan, Jonathan P.; Kienzler, Anne-Kathrin; Rizzi, Marta; Eibel, Hermann; Peter, Hans-Hartmut; Warnatz, Klaus; Grimbacher, Bodo; Rump, Jörg-Andres; Schlesier, Michael (2012). "Genetic CD21 deficiency is associated with hypogammaglobulinemia". Journal of Allergy and Clinical Immunology. 129 (3): 801–810.e6. doi:10.1016/j.jaci.2011.09.027. PMID 22035880.
5. ^ Geraedts, JPM; De Wert, Gmwr (2009). "Preimplantation genetic diagnosis". Clinical Genetics. 76 (4): 315–325. doi:10.1111/j.1399-0004.2009.01273.x. PMID 19793305.
6. ^ Compagno, Nicolã²; Malipiero, Giacomo; Cinetto, Francesco; Agostini, Carlo (2014). "Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia". Frontiers in Immunology. 5: 626. doi:10.3389/fimmu.2014.00626. PMC 4259107. PMID 25538710.
7. ^ Roifman, Chaim M.; Schroeder, Harry; Berger, Melvin; Sorensen, Ricardo; Ballow, Mark; Buckley, Rebecca H.; Gewurz, Anita; Korenblat, Phillip; Sussman, Gordon; Lemm, Georg (2003). "Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency". International Immunopharmacology. 3 (9): 1325–1333. doi:10.1016/S1567-5769(03)00134-6. PMID 12890430.
8. ^ McDermott, David H.; Gao, Ji-Liang; Liu, Qian; Siwicki, Marie; Martens, Craig; Jacobs, Paejonette; Velez, Daniel; Yim, Erin; Bryke, Christine R.; Hsu, Nancy; Dai, Zunyan; Marquesen, Martha M.; Stregevsky, Elina; Kwatemaa, Nana; Theobald, Narda; Long Priel, Debra A.; Pittaluga, Stefania; Raffeld, Mark A.; Calvo, Katherine R.; Maric, Irina; Desmond, Ronan; Holmes, Kevin L.; Kuhns, Douglas B.; Balabanian, Karl; Bachelerie, Françoise; Porcella, Stephen F.; Malech, Harry L.; Murphy, Philip M. (2015). "Chromothriptic Cure of WHIM Syndrome". Cell. 160 (4): 686–699. doi:10.1016/j.cell.2015.01.014. PMC 4329071. PMID 25662009.
9. ^ Booth, Jonathan C.; Kumar, Umesh; Webster, David; Monjardino, John; Thomas, Howard C. (1998). "Comparison of the rate of sequence variation in the hypervariable region of E2/NS1 region of hepatitis C virus in normal and hypogammaglobulinemic patients". Hepatology. 27 (1): 223–227. doi:10.1002/hep.510270134. PMID 9425941.
10. ^ "agammaglobulinemia" at Dorland's Medical Dictionary
11. ^ "Dysgammaglobulinemia" at Dorland's Medical Dictionary
## Further reading[edit]
* Rose, M. E.; Lang, D. M. (2006). "Evaluating and managing hypogammaglobulinemia". Cleveland Clinic Journal of Medicine. 73 (2): 133–7, 140, 143–4. doi:10.3949/ccjm.73.2.133. PMID 16478038.
* Robert Y Li, et al.: "Hypogammaglobulinemia", Medscape. Accessed 2009-07-17.
## External links[edit]
Classification
D
* ICD-10: D80.0-D80.1
* ICD-9-CM: 279.00
* MeSH: D000361
* DiseasesDB: 6426
External resources
* MedlinePlus: 001307
* eMedicine: med/1120 ped/54
* Patient UK: Hypogammaglobulinemia
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
* v
* t
* e
Disorders of globin and globulin proteins
Globin
* Hemoglobinopathy
* Thalassemia
* alpha
* beta
* delta
* Sickle-cell disease
* trait
* HPFH
Globulin
* IGHM: AGM1
* IGLL1: AGM2
Serpin
* Serpinopathy: Alpha-1 antitrypsin deficiency
* Antithrombin III deficiency
* Hereditary angioedema
* FENIB
See also
* globular proteins
* globins
* antibodies
* serpins
* v
* t
* e
Cell surface receptor deficiencies
G protein-coupled receptor
(including hormone)
Class A
* TSHR (Congenital hypothyroidism 1)
* LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
* FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
* GnRHR (Gonadotropin-releasing hormone insensitivity)
* EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
* AVPR2 (Nephrogenic diabetes insipidus 1)
* PTGER2 (Aspirin-induced asthma)
Class B
* PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C
* CASR (Familial hypocalciuric hypercalcemia)
Class F
* FZD4 (Familial exudative vitreoretinopathy 1)
Enzyme-linked receptor
(including
growth factor)
RTK
* ROR2 (Robinow syndrome)
* FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
* FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
* FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
* INSR (Donohue syndrome
* Rabson–Mendenhall syndrome)
* NTRK1 (Congenital insensitivity to pain with anhidrosis)
* KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
STPK
* AMHR2 (Persistent Müllerian duct syndrome II)
* TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
* TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
GC
* GUCY2D (Leber's congenital amaurosis 1)
JAK-STAT
* Type I cytokine receptor: GH (Laron syndrome)
* CSF2RA (Surfactant metabolism dysfunction 4)
* MPL (Congenital amegakaryocytic thrombocytopenia)
TNF receptor
* TNFRSF1A (TNF receptor associated periodic syndrome)
* TNFRSF13B (Selective immunoglobulin A deficiency 2)
* TNFRSF5 (Hyper-IgM syndrome type 3)
* TNFRSF13C (CVID4)
* TNFRSF13B (CVID2)
* TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
Lipid receptor
* LRP: LRP2 (Donnai–Barrow syndrome)
* LRP4 (Cenani–Lenz syndactylism)
* LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
* LDLR (LDLR Familial hypercholesterolemia)
Other/ungrouped
* Immunoglobulin superfamily: AGM3, 6
* Integrin: LAD1
* Glanzmann's thrombasthenia
* Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
* PTCH1 (Nevoid basal-cell carcinoma syndrome)
* BMPR1A (BMPR1A juvenile polyposis syndrome)
* IL2RG (X-linked severe combined immunodeficiency)
See also
cell surface receptors
*[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
| Hypogammaglobulinemia | c0001768 | 29,518 | wikipedia | https://en.wikipedia.org/wiki/Hypogammaglobulinemia | 2021-01-18T18:42:16 | {"mesh": ["D000361"], "umls": ["C0001768"], "orphanet": ["183669"], "wikidata": ["Q1047559"]} |
A number sign (#) is used with this entry because of evidence that calcium oxalate nephrolithiasis (CAON) is caused by compound heterozygous mutation in the SLC26A1 gene (610130) on chromosome 4p16. One such patient has been reported.
Description
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts.
Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Clinical Features
Oxalate is a major component of two-thirds of all kidney stones. Small changes in the urinary concentration of oxalate have a critical influence on calcium oxalate stone formation. Abnormally high urinary excretion and intestinal absorption of oxalate has been found in cases of 'idiopathic' calcium oxalate nephrolithiasis (Hodgkinson, 1978; Robertson and Peacock, 1980; Marangella et al., 1982). The family history is usually positive in cases of calcium oxalate urolithiasis (McGeown, 1960; Ljunghall, 1979).
Gram (1932) described an extensive pedigree of oxalate urolithiasis in 5 generations. Urinary oxalate concentrations were not reported. Several presumed carrier females did not have calculi. Fifteen males (and no females) in 10 sibships were affected.
The systematic genetic study of calcium oxalate renal calculi done by Resnick et al. (1968) led to the conclusion that monogenic inheritance could be excluded; the findings were considered compatible with the hypothesis that the tendency to form calcium oxalate renal stones is regulated by a polygenic system, with less risk for females than males.
Baggio et al. (1984, 1986) found that transmembrane oxalate flux in red cells of patients with idiopathic calcium oxalate nephrolithiasis is faster than in subjects without stones; that the anomaly of oxalate transport is inherited as an autosomal dominant trait with complete penetrance; and that the 'defect' can be corrected by diuretic agents (e.g., hydrochlorothiazide or amiloride). Use of hydrochlorothiazide to prevent recurrence of renal stones was first suggested by Yendt and Cohanim (1978) because of its hypocalciuric action. Cousin and Motais (1976) showed that oxalate exchange is drastically reduced by furosemide, and to a lesser extent by hydrochlorothiazide. Hyperoxaluria occurs with various forms of intestinal disease as an abnormality in absorption of dietary oxalate (Smith and Hofmann, 1974).
### Patients With Confirmed SLC26A1 Variants
Gee et al. (2016) reported a boy of Macedonian descent with onset of acute renal failure due to calcium oxalate nephrolithiasis at 5 years of age. He also had ureteropelvic junction obstruction necessitating surgery. Urinary analysis showed hyperoxaluria. An unrelated boy, born of consanguineous European-American parents, developed nephrolithiasis; urinary oxalate and renal function were normal. The paternal grandfather of this patient also had nephrolithiasis.
Pathogenesis
Oxalobacter formigenes is a gram-negative, anaerobic bacterium that metabolizes oxalate in the intestinal tract and is present in most adults. Kaufman et al. (2008) hypothesized that the absence of O. formigenes could lead to increased colonic absorption of oxalate and that the subsequent increase in urinary oxalate could favor development of stones. They performed a case-control study of 247 patients with recurrent oxalate stones and 259 matched controls and found that the prevalence of O. formigenes, cultured from stool, was 17% in patients and 38% among controls. The inverse association was found independently of age, gender, race/ethnicity, region, and antibiotic use. Median urinary oxalate excretion did not differ with the presence or absence of O. formigenes colonization. Kaufman et al. (2008) concluded that colonization with O. formigenes is associated with a 70% reduction in risk of being a recurrent calcium oxalate stone former and that O. formigenes is a potential probiotic.
Molecular Genetics
In a boy with calcium oxalate nephrolithiasis, Gee et al. (2016) identified compound heterozygous missense variants in the SLC26A1 gene (T185M, 610130.0001 and S358L, 610130.0002). Another boy with calcium oxalate nephrolithiasis was homozygous for a missense variant in the SLC26A1 gene (A56T; 610130.0003); however, the pathogenicity of this variant was questioned by Wu et al. (2016). The patients in the study of Gee et al. (2016) were ascertained from a cohort of 348 unrelated patients with kidney stones who were screened for mutations in 18 candidate genes. In vitro functional expression assays using mouse orthologs suggested that the variant proteins caused a decrease in transporter function.
### Associations Pending Confirmation
Suzuki et al. (2008) found that an ancestral TRPV6 haplotype, consisting of 3 nonsynonymous SNPs, C157R (rs4987657), M378V (rs4987667), M681T (rs4987682), and defined by arg157, val378, and thr681 (RVT), was present at a significantly higher frequency among 274 Swiss renal calcium stone formers compared to a control group of 341 Swiss nonstone formers (7.6% vs 5.4%; p = 0.039). Functional expression studies in Xenopus oocytes showed that the RVT ancestral haplotype resulted in higher calcium uptake activity compared to the derived CMM haplotype (p less than 0.01) and that the val378 allele of the extracellular M378V SNP, which is located between transmembrane domains 1 and 2, significantly increased calcium transport activity, suggesting that the M378V SNP mainly contributes to the increase in calcium transport activity associated with the RVT haplotype. There was no difference in phenotype between stone-forming patients who were heterozygous for the RVT haplotype and stone-forming patients homozygous for the CMM haplotype. One stone-forming patient was RVT haplotype homozygous and had absorptive hypercalciuria and more than 5 episodes of stones; however, he had no family history of stones. Suzuki et al. (2008) suggested that the ancestral RVT haplotype represents a gain-of-function haplotype in TRPV6 and may play a role in increased risk of calcium stone formation.
Animal Model
Jiang et al. (2006) showed that Slc26a6 (610068)-null mice develop a high incidence of calcium oxalate urolithiasis. Slc26a6-null mice have significant hyperoxaluria and elevation of plasma oxalate concentration that is greatly attenuated by dietary oxalate restriction. In vitro flux studies indicated that mice lacking Slc26a6 have a defect in intestinal oxalate secretion resulting in enhanced net absorption of oxalate. Jiang et al. (2006) concluded that the anion exchanger, SLC26A6, has a major constitutive role in limiting net intestinal absorption of oxalate, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Kleta (2006) commented that the findings of Jiang et al. (2006) suggest a genetic explanation for a common form of renal stone disease in humans.
Dawson et al. (2010) found that Slc26a1-null mice showed increased serum oxalate and increased oxalate excretion, decreased serum sulfate and increased sulfate excretion, calcium oxalate urolithiasis, and nephrocalcinosis. Mutant mice also showed increased acetaminophen-induced liver toxicity compared to wildtype, and Dawson et al. (2010) noted that sulfate is required for the detoxification of xenobiotics, and suggested that Slc26a1 deficiency may result in hepatotoxicity.
INHERITANCE \- Autosomal recessive GENITOURINARY Kidneys \- Nephrolithiasis, calcium oxalate \- Acute renal failure Bladder \- Ureteropelvic junction obstruction LABORATORY ABNORMALITIES \- Increased urinary oxalate MISCELLANEOUS \- Onset in childhood \- One patient has been reported (last curated June 2016) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 26 (sulfate transporter), member 1 gene (SLC26A1, 610130.0001 ) ▲ 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
| NEPHROLITHIASIS, CALCIUM OXALATE | c1833683 | 29,519 | omim | https://www.omim.org/entry/167030 | 2019-09-22T16:36:48 | {"doid": ["585"], "mesh": ["C563477"], "omim": ["167030"], "synonyms": ["Alternative titles", "KIDNEY STONES", "UROLITHIASIS, CALCIUM OXALATE"]} |
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Carey Fineman Ziter syndrome
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyMedical genetics
Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the literature.[1]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 History
* 7 References
## Signs and symptoms[edit]
Several features have been described in this syndrome. These include
* cleft palate
* micrognathia
* laryngostenosis
* developmental delay
* small pons
* scoliosis
* myopathy
* intermittent episodes of hypertension
* Poland sequence
* Möbius sequence
* hydronephrosis
* bilateral clubfeet (talipes)
## Genetics[edit]
Mutations in the gene Myomaker (MYMK) have been shown to be responsible for this condition.[2] The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive.
## Pathogenesis[edit]
The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells. Mutations in this protein result in failure of myoblast fusion.[2][3]
## Diagnosis[edit]
Diagnosis is made by sequencing the MYMK gene.
Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI.[4]
### Differential diagnosis[edit]
* Native American myopathy
* Moebius syndrome
## Treatment[edit]
There is no curative treatment known. Management is supportive.
## History[edit]
The condition was first described in 1982.[5]
## References[edit]
1. ^ Dufke A, Riethmüller J, Enders H (2004). "Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome". Am J Med Genet A 127A(3):291-293
2. ^ a b Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC. Collaborators: Andrews CV, Barry BJ, Hunter DG, Mackinnon SE, Shaaban S, Erazo M, Frempong T, Hao K, Naidich TP, Rucker JC, Zhang Z, Biesecker BB, Bonnycastle LL, Brewer CC, Brooks BP, Butman JA, Chien WW, Farrell K, FitzGibbon EJ, Gropman AL, Hutchinson EB, Jain MS, King KA, Lehky TJ, Lee J, Liberton DK, Narisu N, Paul SM, Sadeghi N, Snow J, Solomon B, Summers A, Toro C, Thurm A, Zalewski CK (2017). "A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome". Nat Commun 8:16077. doi: 10.1038/ncomms16077
3. ^ Hedberg-Oldfors C, Lindberg C, Oldfors A (2018). "Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy". Neurol Genet 4(4):e254. doi: 10.1212/NXG.0000000000000254
4. ^ "Carey-Fineman-Ziter syndrome". Orphanet. 2006. Retrieved 4 August 2018.
5. ^ Carey JC, Fineman RM, Ziter FA (1982). "The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes". J Pediatr 101(5):858-864
Classification
D
* OMIM: 254940
* MeSH: C536102
* DiseasesDB: 33758
*[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
| Carey Fineman Ziter syndrome | c1850746 | 29,520 | wikipedia | https://en.wikipedia.org/wiki/Carey_Fineman_Ziter_syndrome | 2021-01-18T19:10:58 | {"gard": ["3889"], "mesh": ["C536102"], "umls": ["C1850746"], "icd-10": ["Q87.0"], "orphanet": ["1358"], "wikidata": ["Q3508625"]} |
Actinobacillosis
SpecialtyInfectious disease
Actinobacillosis is a zoonotic disease caused by Actinobacillus.[1]
It is more commonly associated with animals than with humans.[2]
One of the most common forms seen by veterinarians is mouth actinobacillosis of cattle, due to Actinobacillus lignieresii. The most prominent symptom is the swelling of the tongue that protrudes from the mouth and is very hard at palpation ("wooden tongue").
Actinobacillus suis is an important disease of pigs of all ages and can lead to severe morbidity and sudden death.[3]
## Contents
* 1 Causes
* 2 Differential diagnosis
* 3 See also
* 4 References
* 5 External links
## Causes[edit]
The infection is most commonly caused by abrasions on different soft tissues through which the bacteria, Actinobacillus lignieresii, enters. These soft tissues include subcutaneous tissues, the tongue, lymph nodes, lungs, and various tissues in the gastrointestinal tract. The injury results in different forms and locations of the disease depending on the location of the tissue. The commensal bacteria is also commonly found in the oral cavity, gastrointestinal tract, and reproductive tract, sometimes resulting in disease.[4] There are generally one or two cases of actinobacillosis per herd found in adult cows, foals or adult horses, and other similar animals.[5][6]
## Differential diagnosis[edit]
Mouth actinobacillosis of cattle must be differentiated from actinomycosis that affects bone tissues of the maxilla.
## See also[edit]
* actinomycosis
* Actinobacillus suis
## References[edit]
1. ^ "Merck Veterinary Manual".
2. ^ "Dorlands Medical Dictionary:actinobacillosis".[permanent dead link]
3. ^ "Actinobacillosis - Pig reviewed and published by Wikivet". Retrieved 7 October 2011.
4. ^ Layman, Quinci D.; Rezabek, Grant B.; Ramachandran, Akhilesh; Love, Brenda C.; Confer, Anthony W. (2014). "A Retrospective Study of Equine Actinobacillosis Cases 1999-2011". Journal of Veterinary Diagnostic Investigation. 26 (3): 365–375. doi:10.1177/1040638714531766. PMID 24742921.
5. ^ Boden, Edward (2015). Black's Veterinary Dictionary. Bloomsbury Publishing. p. 10. ISBN 9781408181287 – via EBL.
6. ^ Buttenschøn, J. (1989-02-12). "The Occurrence of Lesions in the Tongue of Adult Cattle and their Implications for the Development of Actinobacillosis". Journal of Veterinary Medicine, Series A. 36 (1–10): 393–400. doi:10.1111/j.1439-0442.1989.tb00745.x. ISSN 1439-0442.
## External links[edit]
Classification
D
* ICD-10: A28.8
* ICD-9-CM: 027.8
* MeSH: D000187
* DiseasesDB: 31173
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
* Rocky Mountain spotted fever
* Rickettsia conorii
* Boutonneuse fever
* Rickettsia japonica
* Japanese spotted fever
* Rickettsia sibirica
* North Asian tick typhus
* Rickettsia australis
* Queensland tick typhus
* Rickettsia honei
* Flinders Island spotted fever
* Rickettsia africae
* African tick bite fever
* Rickettsia parkeri
* American tick bite fever
* Rickettsia aeschlimannii
* Rickettsia aeschlimannii infection
Mite-borne
* Rickettsia akari
* Rickettsialpox
* Orientia tsutsugamushi
* Scrub typhus
Flea-borne
* Rickettsia felis
* Flea-borne spotted fever
Anaplasmataceae
* Ehrlichiosis: Anaplasma phagocytophilum
* Human granulocytic anaplasmosis, Anaplasmosis
* Ehrlichia chaffeensis
* Human monocytotropic ehrlichiosis
* Ehrlichia ewingii
* Ehrlichiosis ewingii infection
Rhizobiales
Brucellaceae
* Brucella abortus
* Brucellosis
Bartonellaceae
* Bartonellosis: Bartonella henselae
* Cat-scratch disease
* Bartonella quintana
* Trench fever
* Either B. henselae or B. quintana
* Bacillary angiomatosis
* Bartonella bacilliformis
* Carrion's disease, Verruga peruana
β
Neisseriales
M+
* Neisseria meningitidis/meningococcus
* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
* Melioidosis
* Burkholderia mallei
* Glanders
* Burkholderia cepacia complex
* Bordetella pertussis/Bordetella parapertussis
* Pertussis
γ
Enterobacteriales
(OX−)
Lac+
* Klebsiella pneumoniae
* Rhinoscleroma, Pneumonia
* Klebsiella granulomatis
* Granuloma inguinale
* Klebsiella oxytoca
* Escherichia coli: Enterotoxigenic
* Enteroinvasive
* Enterohemorrhagic
* O157:H7
* O104:H4
* Hemolytic-uremic syndrome
* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
* Serratia infection
* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
* Typhoid fever, Paratyphoid fever, Salmonellosis
H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
* Shigellosis, Bacillary dysentery
* Proteus mirabilis/Proteus vulgaris
* Yersinia pestis
* Plague/Bubonic plague
* Yersinia enterocolitica
* Yersiniosis
* Yersinia pseudotuberculosis
* Far East scarlet-like fever
Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
* Legionnaires' disease
* Coxiella burnetii
* Q fever
Thiotrichales
* Francisella tularensis
* Tularemia
Vibrionaceae
* Vibrio cholerae
* Cholera
* Vibrio vulnificus
* Vibrio parahaemolyticus
* Vibrio alginolyticus
* Plesiomonas shigelloides
Pseudomonadales
* Pseudomonas aeruginosa
* Pseudomonas infection
* Moraxella catarrhalis
* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
*[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
| Actinobacillosis | c0001247 | 29,521 | wikipedia | https://en.wikipedia.org/wiki/Actinobacillosis | 2021-01-18T18:43:14 | {"mesh": ["D000187"], "umls": ["C0001247"], "icd-9": ["027.8"], "icd-10": ["A28.8"], "wikidata": ["Q3270160"]} |
HIV/AIDS in Jamaica has a 1.5 percent prevalence of the adult population estimated to be HIV-positive and no significant change over the last five years and therefore Jamaica appears to have stabilized its HIV/AIDS epidemic.
## Contents
* 1 Prevalence
* 2 National Response
* 3 See also
* 4 References
## Prevalence[edit]
Recent data from high-risk groups suggest that at least 9 percent of commercial sex workers and 20 to 30 percent of men who have sex with men (MSM) are estimated to be HIV-positive. Men and women aged 20 to 39 account for 54 percent of reported AIDS cases in Jamaica. First detected in 1982, HIV is present in all of Jamaica’s parishes, but Kingston, St. Andrew, and St. James – the three most urbanized parishes – have the majority of cases, but St James being the highest overall. UNAIDS estimates that 25,000 people in Jamaica are HIV-infected.[1]
The primary contributors to the epidemic are sociocultural, behavioral, and economic factors that result in risky behaviors such as multiple sex partners, older men having sex with younger women, and early sexual debut. A 2004 Behavioral Surveillance Survey demonstrated that 89 percent of males and 78 percent of females aged 15 to 24 had sex with a nonmarital or noncohabitating partner in the preceding 12 months (2006). Fifty-six percent of males and 16 percent of females had multiple sex partners in the preceding 12 months. Among patients attending sexually transmitted infection (STI) clinics in Kingston, St. Andrew, and St. James, HIV infection rates reached 5 percent. In the general population, overall AIDS case rates among men continue to exceed the rates among women. However, surveillance data, as presented by Dr. Peter Figueroa of Jamaica’s Ministry of Health (MOH) at the U.S. Government-sponsored sixth annual Caribbean U.S. Chiefs of Mission Conference on HIV/AIDS held in Jamaica in October 2007, indicate that adolescent females (10 to 19 years old) are 2.7 times more likely to be infected than same-age males. Young women are particularly at risk because they find it difficult to negotiate whether and when to have sex and how to protect themselves from pregnancy and disease. For example, the “sugar daddy” phenomenon, in which young women and girls exchange sex with older men for material or financial gain, is common. In addition, gender inequality, high levels of unemployment, persistent poverty, rising crime and violence, population mobility, and the growing commercial sex trade – including sex tourism – compound the country’s vulnerability to the HIV/AIDS epidemic.[1]
Although Jamaica has a well-established national surveillance system, collecting accurate data about at-risk groups is challenging. Despite some progress in reducing stigma and discrimination (S&D), homosexual behavior continues to be illegal in Jamaica, and many MSM hide their sexual orientation and behavior, impeding accurate health surveys. Recent program estimates indicate that 20 to 30 percent of MSM are HIV-positive. Jamaica also has a large number of mobile sex workers, both Jamaican and from outside Jamaica, who are difficult to monitor. HIV infection rates among sex workers are much higher than they are in the general population. A 2006 study of female sex workers, reported by UNAIDS, showed an HIV prevalence of 9 percent in this group. However, according to Jamaica’s 2006 UNGASS report, an earlier study found a 20 percent prevalence rate among sex workers in the tourist areas of Montego Bay. The actual prevalence of HIV may be higher in these groups as data collection remains difficult and is limited by sampling methods. Sex workers who were older, less educated, and used crack cocaine were more likely to be HIV-infected. According to UNICEF/Jamaica, in 2003, there were 5,125 children in Jamaica who had lost one or both parents to HIV/AIDS, and thousands more were estimated to have been made vulnerable by the disease. Poverty and neglect have led to a growing number of street and working children. There were 5,143 children in institutional care in 2003, including those in foster care.[1]
Controlling new tuberculosis (TB) infections in Jamaica remains a challenge; the incidence rate is 3 per 100,000 people. However, according to the World Health Organization (WHO), the prevalence of HIV among Jamaican TB patients is 26 percent. This figure is similar to other developing countries. However, Jamaica has a higher mortality rate among those who are co-infected, so prompt diagnosis of HIV infection and early institution of active antiretroviral treatment (ART) are imperative.[1]
## National Response[edit]
The Government of Jamaica has aggressively addressed the HIV/AIDS epidemic since 1988, when it established the National HIV/Sexually Transmitted Disease Prevention and Control Program and the National AIDS Committee (NAC), a nongovernmental organization (NGO). The Program, working under the MOH, facilitates governmental cooperation with the private sector and NGOs in the fight against HIV/AIDS. NAC, which has more than 100 member organizations, coordinates the national response to the epidemic.[1]
During the past two decades, Jamaica has taken several steps to combat HIV/AIDS. More recent efforts include joining the Pan Caribbean Partnership Against HIV/AIDS upon its formation in 2001 and continuing to serve as an active member; developing an HIV/AIDS prevention and control project; implementing two national strategic plans on HIV/AIDS and STIs, the most recent of which ended in 2006, and launching a new plan in 2007; providing ART for persons with advanced HIV and HIV-infected mothers since 2004; adopting a national HIV/AIDS policy in 2005; and establishing a private sector-led business coalition on HIV in 2006.[1]
The government recently began implementing its third National Strategic Plan on HIV/AIDS/STIs, covering 2007 to 2011. The Plan focuses on achieving universal access to prevention, treatment, and care and support. Currently, only 56 percent of HIV-infected people who need treatment receive ART, according to a WHO/UNAIDS/UNICEF report. In July 2007, the World Bank announced that it would work with Jamaica to design a second HIV/AIDS prevention and control project to be implemented after the current project closes in May 2008.[1]
In 2004, Jamaica’s MOH received a third-round grant from the Global Fund to Fight AIDS, Tuberculosis and Malaria to strengthen multisectoral national activities to prevent and address the HIV/AIDS epidemic. This has been done through scaling up efforts to:[1]
* Provide ART to children and adults living with HIV/AIDS
* Promote safer sex practices, including abstinence, especially among subpopulations and marginalized groups who tend to be the most vulnerable
* Complete and implement policies and a legislative framework specifically addressing S&D aimed at people living with HIV/AIDS and vulnerable high-risk groups[1]
Jamaica has applied to the Global Fund for a 2007 $44.2 million grant to consolidate existing gains while scaling up efforts to provide universal access to HIV treatment, care, and prevention, with special emphasis on vulnerable populations. Jamaica had already received $16.4 million from the Global Fund during round three for HIV/AIDS treatment, prevention, and policy efforts.[1]
## See also[edit]
* HIV/AIDS in North America
## References[edit]
1. ^ a b c d e f g h i j "Health Profile: Jamaica" Archived 2008-09-13 at the Wayback Machine. United States Agency for International Development (June 2008). Accessed September 7, 2008. This article incorporates text from this source, which is in the public domain.
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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
*[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
| HIV/AIDS in Jamaica | None | 29,522 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Jamaica | 2021-01-18T18:54:27 | {"wikidata": ["Q5629849"]} |
Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.
*[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
| Pleuro-pericardial cyst | None | 29,523 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99131 | 2021-01-23T17:05:52 | {"icd-10": ["Q24.8"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-2 (JBTS2) is caused by homozygous mutation in the TMEM216 gene (613277) on chromosome 11q12.
Mutation in the TMEM216 gene can also cause Meckel syndrome-2 (MKS2; 603194).
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Description
Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).
Clinical Features
The phenotypic presentation of CORSs is highly heterogeneous. Neurologic features can include ataxia, hypotonia, psychomotor developmental delay, oculomotor disorders (such as oculomotor apraxia and nystagmus), and changes in the respiratory rhythm that appear mainly in the neonatal period. Ocular abnormalities comprise Leber congenital amaurosis, other noncongenital and less specific retinopathies, and chorioretinal colobomas, with a clinical presentation ranging from blindness soon after birth to a mild reduction of visual acuity at a later age. Renal abnormalities consist of either cystic dysplastic kidneys or juvenile nephronophthisis and can be asymptomatic or mildly symptomatic until adolescence (Chance et al., 1999; Satran et al., 1999).
Keeler et al. (2003) studied affected members of 3 families with the oculorenal form of Joubert syndrome. Kidney cysts were present in one family, coloboma in the second, and retinopathy in the third. One family was from Pakistan and the other 2 were from the United Arab Emirates; all were consanguineous.
Valente et al. (2003) studied a large consanguineous family from Sicily in which 3 sibs and a maternal uncle had Joubert syndrome with proven MTI and nephronophthisis but without retinal involvement. All 4 patients presented with nystagmus and oculomotor apraxia, with impairment of smooth pursuit and saccades. Neonatal irregular breathing was not reported. The maternal uncle, age 26 years, developed acute renal failure at the age of 17 years and underwent renal transplantation. The histologic diagnosis of juvenile nephronophthisis was made. All 3 sibs showed signs of reduced renal function.
Valente et al. (2005) reported 2 families with JBTS2. In a Turkish family, the affected child showed severe hypotonia, oculomotor apraxia, and severe respiratory abnormalities. Kidney ultrasound was normal. He had postaxial polydactyly of both hands and feet, with camptodactyly of the third and fourth fingers bilaterally, small genitalia, microphthalmia, and patent foramen ovale. MRI showed absence of the cerebellar vermis and the molar tooth sign. An affected 15-year-old patient of Portuguese origin showed hypotonia, ataxia, psychomotor retardation, oculomotor apraxia, and postaxial polydactyly. He had retinal dystrophy with abnormal electroretinogram and normal kidneys.
Edvardson et al. (2010) reported 13 individuals from 8 Ashkenazi Jewish families with JBTS2 showing linkage to chromosome 11p12. Three of the families belonged to the same kindred. All patients were born at term and presented with neonatal hypotonia, rotary nystagmus, esotropia, and feeding difficulties due to oral motor dysfunction, resulting in failure to thrive. Dysmorphic features included dolichocephaly and frontal bossing in 6 patients, metopic craniosynostosis in 1 patient, and macrocephaly due to noncommunicating hydrocephalus in 1 patient. Two patients had postaxial polydactyly in the upper and lower limbs, and 1 had postaxial polydactyly in the lower limbs only. All 13 patients had delayed psychomotor development and mental retardation. The nystagmus improved over the first years of life, and visual function, funduscopic examination, and visual evoked potentials were normal thereafter. Brain MRI showed the molar tooth sign and other cerebellar abnormalities, including complete absence of the vermis or a dysplastic split vermis. Eight patients had normal renal ultrasound, but the 2 oldest patients (aged 17 and 26 years, respectively), had end-stage renal insufficiency beginning in midadolescence.
Valente et al. (2010) reported 14 families, including 10 Ashkenazi Jewish families, with Joubert syndrome-2. All patients had the molar tooth sign on brain imaging, and 2 also had Dandy-Walker malformation. Nine had oculomotor apraxia/nystagmus, 9 had nephronophthisis, and 9 had polydactyly. None had liver or retinal involvement. Two of the Ashkenazi Jewish patients, a 4-year-old boy and a male fetus, also had tongue tumors and multiple oral frenula, respectively, reminiscent of OFD6 (277170).
Mapping
Keeler et al. (2003) described 3 consanguineous families with an oculorenal form of Joubert syndrome and by linkage analysis identified a locus on 11p12-q13.3 (JBTS2), with a maximum 2-point lod score of 5.2 at marker D11S1915.
In a large consanguineous family from Sicily segregating Joubert syndrome, Valente et al. (2003) demonstrated linkage to the pericentromeric region of chromosome 11. The maximum lod score obtained was 3.96, with a recombination fraction of 0.00, for marker D11S1313 in a haplotype spanning bands 11p11.2-q12.3.
By haplotype analysis of 2 families with Joubert syndrome, Valente et al. (2005) refined the JBTS2 locus to a 13.6-Mb region between D11S4191 and D11S1344, encompassing 5.2 Mb of centromeric DNA.
Molecular Genetics
In 13 affected members of 8 Ashkenazi Jewish families with Joubert syndrome-2, Edvardson et al. (2010) identified a homozygous mutation in the TMEM216 gene (R73L; 613277.0001). The carrier rate in this ethnic group was determined to be 1 in 92.
In affected members of 14 families with Joubert syndrome-2 and 6 families with Meckel syndrome-2 (MKS2; 603194), Valente et al. (2010) identified 7 different homozygous mutations in the TMEM216 gene (see, e.g., 613277.0001-613277.0004). Ten families with Joubert syndrome were of Ashkenazi Jewish descent and shared the common founder mutation, R73L, which had a carrier frequency of 1 in 100. A Turkish family had 2 affected patients: 1 with Joubert syndrome and a fetus with Meckel syndrome, indicating that the 2 clinical disorders are part of the same spectrum.
Nomenclature
Keeler et al. (2003) noted that the form of Joubert syndrome that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of Joubert syndrome and called either Joubert syndrome type B or type 2. They suggested the name CORS2 for the locus on 11p12-q13.3, because of the apparently frequent association of oculorenal involvement. Likewise, Valente et al. (2003) proposed the CORS acronym for loci identified in all cerebellooculorenal syndromes sharing the pathognomonic MTI, including Joubert syndrome and incomplete phenotypes such as COGAN (257550) and cerebellorenal syndromes. Both groups used the designations CORS1 for JBTS1 (see 213300) and CORS2 for JBTS2.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Macrocephaly \- Dolichocephaly Face \- Frontal bossing Ears \- Low-set ears Eyes \- Abnormal, jerky eye movements \- Impaired smooth pursuit \- Impaired saccades \- Nystagmus \- Oculomotor apraxia \- Coloboma of optic nerve \- Chorioretinal coloboma \- Retinal dystrophy \- Visual impairment \- Hypertelorism \- Microphthalmia \- Esotropia Nose \- Depressed nasal bridge Mouth \- High-arched palate RESPIRATORY \- Neonatal breathing dysregulation \- Hyperpnea, episodic \- Tachypnea, episodic \- Central apnea ABDOMEN Gastrointestinal \- Poor feeding in infancy \- Swallowing and chewing difficulties GENITOURINARY External Genitalia (Male) \- Hypoplastic genitalia Kidneys \- Nephronophthisis \- Renal cysts \- Impaired renal function (variable) SKELETAL Hands \- Polydactyly, postaxial Feet \- Polydactyly, postaxial NEUROLOGIC Central Nervous System \- Hydrocephalus \- Delayed psychomotor development \- Mental retardation \- Ataxia \- Hypotonia \- Encephalocele \- Dysgenesis or agenesis of the cerebellar vermis \- Hypoplasia of the brainstem \- Malformation of brainstem structures \- 'Molar tooth sign' on brain imaging' \- Deep posterior interpeduncular fossa \- Thick and elongated superior cerebellar peduncles \- Abnormal corpus callosum MISCELLANEOUS \- Variable phenotype \- Genetic heterogeneity MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0001 ) ▲ Close
*[v]: View 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
| JOUBERT SYNDROME 2 | c1855675 | 29,524 | omim | https://www.omim.org/entry/608091 | 2019-09-22T16:08:23 | {"doid": ["0110988"], "mesh": ["C537430"], "omim": ["608091"], "orphanet": ["2318"], "synonyms": ["Alternative titles", "CEREBELLOOCULORENAL SYNDROME 2"], "genereviews": ["NBK1325"]} |
A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.
*[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
| Pediatric collagenous gastritis | None | 29,525 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=487809 | 2021-01-23T18:01:17 | {"synonyms": ["Childhood-onset collagenous gastritis"]} |
Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
*[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
| Digestive duplication cyst of the tongue | None | 29,526 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141071 | 2021-01-23T18:59:02 | {"icd-10": ["Q38.3"], "synonyms": ["Enteric duplication cyst of the tongue", "Foregut duplication cyst of the tongue", "Gastric duplication cyst of the tongue"]} |
Disease of anatomical entity that is located in the central nervous system or located in the peripheral nervous system
Neurological disorder
Neurons in person with epilepsy, 40x magnified.
SpecialtyNeurology
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialities of neurology and clinical neuropsychology.
Interventions for neurological disorders include preventive measures, lifestyle changes, physiotherapy or other therapy, neurorehabilitation, pain management, medication, operations performed by neurosurgeons or a specific diet.[1][2] The World Health Organization estimated in 2006 that neurological disorders and their sequelae (direct consequences) affect as many as one billion people worldwide, and identified health inequalities and social stigma/discrimination as major factors contributing to the associated disability and suffering.[3]
## Contents
* 1 Causes
* 2 Classification
* 3 Mental functioning
* 4 See also
* 5 References
* 6 External links
## Causes[edit]
Part of the causal chain leading to Alzheimer's disease.
Although the brain and spinal cord are surrounded by tough membranes, enclosed in the bones of the skull and spinal vertebrae, and chemically isolated by the blood–brain barrier, they are very susceptible if compromised. Nerves tend to lie deep under the skin but can still become exposed to damage. Individual neurons, and the neural circuits and nerves into which they form, are susceptible to electrochemical and structural disruption. Neuroregeneration may occur in the peripheral nervous system and thus overcome or work around injuries to some extents, but it is thought to be rare in the brain and spinal cord.
The specific causes of neurological problems vary, but can include genetic disorders, congenital abnormalities or disorders, infections, lifestyle or environmental health problems including malnutrition, and brain injury, spinal cord injury, nerve injury and gluten sensitivity (with or without intestinal damage or digestive symptoms).[4][2] Metal poisoning, where metals accumulate in the human body and disrupt biological processes, has been reported to induce neurological problems, at least in the case of lead.[4] The neurological problem may start in another body system that interacts with the nervous system. For example, cerebrovascular disorders involve brain injury due to problems with the blood vessels (cardiovascular system) supplying the brain; autoimmune disorders involve damage caused by the body's own immune system; lysosomal storage diseases such as Niemann-Pick disease can lead to neurological deterioration. The National Institutes of Health recommend considering the evaluation of an underlying celiac disease in people with unexplained neurological symptoms, particularly peripheral neuropathy or ataxia.[5]
In a substantial minority of cases of neurological symptoms, no neural cause can be identified using current testing procedures, and such "idiopathic" conditions can invite different theories about what is occurring.[citation needed]
Numerous examples have been described of neurological disorders that are associated with mutated DNA repair genes (for reviews see[6]). Inadequate repair of DNA damages can lead directly to cell death and neuron depletion as well as disruptions in the pattern of epigenetic alterations required for normal neuronal function.
## Classification[edit]
Deaths due to neurological conditions per million persons 2012
18-52
53-68
69-84
85-99
100-131
132-157
158-186
187-243
244-477
478-1,482
Neurological disorders can be categorized according to the primary location affected, the primary type of dysfunction involved, or the primary type of cause. The broadest division is between central nervous system disorders and peripheral nervous system disorders. The Merck Manual lists brain, spinal cord and nerve disorders in the following overlapping categories:[7]
Nervous system
The Human Nervous System.
Identifiers
MeSHD009422
Anatomical terminology
[edit on Wikidata]
* Brain:
* Brain damage according to cerebral lobe (see also 'lower' brain areas such as basal ganglia, cerebellum, brainstem):
* Frontal lobe damage
* Parietal lobe damage
* Temporal lobe damage
* Occipital lobe damage
* Brain dysfunction according to type:
* Aphasia (language)
* Dysgraphia (writing)
* Dysarthria (speech)
* Apraxia (patterns or sequences of movements)
* Agnosia (identifying things or people)
* Amnesia (memory)
* Spinal cord disorders (see spinal pathology, injury, inflammation)
* Peripheral neuropathy and other Peripheral nervous system disorders
* Cranial nerve disorder such as Trigeminal neuralgia
* Autonomic nervous system disorders such as dysautonomia, multiple system atrophy
* Seizure disorders such as epilepsy
* Movement disorders of the central and peripheral nervous system such as Parkinson's disease, essential tremor, amyotrophic lateral sclerosis, Tourette's syndrome, multiple sclerosis and various types of peripheral neuropathy
* Sleep disorders such as narcolepsy
* Migraines and other types of headache such as cluster headache and tension headache
* Lower back and neck pain (see back pain)
* Central neuropathy (see neuropathic pain)
* Neuropsychiatric illnesses (diseases and/or disorders with psychiatric features associated with known nervous system injury, underdevelopment, biochemical, anatomical, or electrical malfunction, and/or disease pathology e.g. attention deficit hyperactivity disorder, autism, Asperger syndrome, Tourette's syndrome and some cases of obsessive compulsive disorder as well as the neurobehavioral associated symptoms of degeneratives of the nervous system such as Parkinson's disease, essential tremor, Huntington's disease, Alzheimer's disease, multiple sclerosis and organic psychosis.)
Many of the diseases and disorders listed above have neurosurgical treatments available (e.g. Tourette's syndrome, Parkinson's disease, essential tremor and obsessive compulsive disorder).
* Delirium and dementia such as Alzheimer's disease
* Dizziness and vertigo
* Stupor and coma
* Head injury
* Stroke (CVA, cerebrovascular attack)
* Tumors of the nervous system (e.g. cancer)
* Multiple sclerosis and other demyelinating diseases
* Infections of the brain or spinal cord (including meningitis)
* Prion diseases (a type of infectious agent)
* Complex regional pain syndrome (a chronic pain condition)
Neurological disorders in non-human animals are treated by veterinarians.[8][9]
## Mental functioning[edit]
A neurological examination can, to some extent, assess the impact of neurological damage and disease on brain function in terms of behavior, memory or cognition. Behavioral neurology specializes in this area. In addition, clinical neuropsychology uses neuropsychological assessment to precisely identify and track problems in mental functioning, usually after some sort of brain injury or neurological impairment.
Alternatively, a condition might first be detected through the presence of abnormalities in mental functioning, and further assessment may indicate an underlying neurological disorder. There are sometimes unclear boundaries in the distinction between disorders treated within neurology, and mental disorders treated within the other medical specialty of psychiatry, or other mental health professions such as clinical psychology. In practice, cases may present as one type but be assessed as more appropriate to the other.[10] Neuropsychiatry deals with mental disorders arising from specific identified diseases of the nervous system.
One area that can be contested is in cases of idiopathic neurological symptoms - conditions where the cause cannot be established. It can be decided in some cases, perhaps by exclusion of any accepted diagnosis, that higher-level brain/mental activity is causing symptoms, rather than the symptoms originating in the area of the nervous system from which they may appear to originate. Classic examples are "functional" seizures, sensory numbness, "functional" limb weakness and functional neurological deficit ("functional" in this context is usually contrasted with the old term "organic disease"). Such cases may be contentiously interpreted as being "psychological" rather than "neurological". Some cases may be classified as mental disorders, for example as conversion disorder, if the symptoms appear to be causally linked to emotional states or responses to social stress or social contexts.[11]
On the other hand, dissociation refers to partial or complete disruption of the integration of a person's conscious functioning, such that a person may feel detached from one's emotions, body and/or immediate surroundings. At one extreme this may be diagnosed as depersonalization disorder. There are also conditions viewed as neurological where a person appears to consciously register neurological stimuli that cannot possibly be coming from the part of the nervous system to which they would normally be attributed, such as phantom pain or synesthesia, or where limbs act without conscious direction, as in alien hand syndrome. Theories and assumptions about consciousness, free will, moral responsibility and social stigma can play a part in this, whether from the perspective of the clinician or the patient.
Some of the fields that contribute to understanding mental functioning
Conditions that are classed as mental disorders, or learning disabilities and forms of intellectual disability, are not themselves usually dealt with as neurological disorders. Biological psychiatry seeks to understand mental disorders in terms of their basis in the nervous system, however. In clinical practice, mental disorders are usually indicated by a mental state examination, or other type of structured interview or questionnaire process. At the present time, neuroimaging (brain scans) alone cannot accurately diagnose a mental disorder or tell the risk of developing one; however, it can be used to rule out other medical conditions such as a brain tumor.[12] In research, neuroimaging and other neurological tests can show correlations between reported and observed mental difficulties and certain aspects of neural function or differences in brain structure. In general, numerous fields intersect to try to understand the basic processes involved in mental functioning, many of which are brought together in cognitive science. The distinction between neurological and mental disorders can be a matter of some debate, either in regard to specific facts about the cause of a condition or in regard to the general understanding of brain and mind.
Moreover, the definition of disorder in medicine or psychology is sometimes contested in terms of what is considered abnormal, dysfunctional, harmful or unnatural in neurological, evolutionary, psychometric or social terms.
## See also[edit]
* Central nervous system
* European Brain Council
* Human brain
* ICD-10 Chapter VI: Diseases of the nervous system
* Mental disorder
* Neuroplasticity
* Peripheral nervous system
* Hypokalemic sensory overstimulation
## References[edit]
1. ^ KT, Thakur; E, Albanese; P, Giannakopoulos; N, Jette; M, Linde; MJ, Prince; TM, Steiner; T, Dua (14 March 2016). Mental, Neurological, and Substance Use Disorders: Disease Control Priorities, Third Edition (Volume 4). Chapter 5 Neurological Disorders. Washington (DC): Patel V, Chisholm D, Dua T, et al.
2. ^ a b Zis P, Hadjivassiliou M (26 February 2019). "Treatment of Neurological Manifestations of Gluten Sensitivity and Coeliac Disease". Curr Treat Options Neurol (Review). 21 (3): 10. doi:10.1007/s11940-019-0552-7. PMID 30806821.
3. ^ WHO Neurological Disorders: Public Health Challenges
4. ^ a b Sanders, T.; Liu, Y.; Buchner, V.; Tchounwou, P. B. (2009). "Neurotoxic effects and biomarkers of lead exposure: A review". Reviews on Environmental Health. 24 (1): 15–45. doi:10.1515/reveh.2009.24.1.15. PMC 2858639. PMID 19476290.
5. ^ "Coeliac disease: recognition, assessment and management. NICE guideline [NG20]". National Institute for Health. September 2015. Retrieved 18 September 2017.
6. ^ Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF (Sep 2019). "DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms". DNA Repair (Amst). 81: 102669. doi:10.1016/j.dnarep.2019.102669. PMID 31331820.CS1 maint: multiple names: authors list (link)
7. ^ Merck Manual: Brain, Spinal Cord and Nerve Disorders
8. ^ "Veterinary Neurological Centre - Neurological Signs and Diseases". Archived from the original on 2016-11-02. Retrieved 2010-01-27.
9. ^ Merck Veterinary Manual - Reproductive System
10. ^ Butler, C (1 March 2005). "Neurological syndromes which can be mistaken for psychiatric conditions". Journal of Neurology, Neurosurgery & Psychiatry. 76 (suppl_1): i31–i38. doi:10.1136/jnnp.2004.060459. PMC 1765684. PMID 15718219.
11. ^ Roelofs, K.; Pasman, J. (2016). "Stress, childhood trauma, and cognitive functions in functional neurologic disorders". Handbook of Clinical Neurology. 139: 139–155. doi:10.1016/B978-0-12-801772-2.00013-8. ISSN 0072-9752. PMID 27719835.
12. ^ NIMH publications (2009) Neuroimaging and Mental Illness
## External links[edit]
Classification
D
* ICD-10: Xxx.x
* ICD-9-CM: xxx
* MeSH: D009422
* Disorder Index of the National Institute of Neurological Disorders and Stroke
* v
* t
* e
Nervous system
Central nervous system
* Meninges
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* False pregnancy
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* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
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* Hypersomnia
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* 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
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* Substance dependence
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Schizophrenia, schizotypal and delusional
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* Delusional disorder
* Folie à deux
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schizophrenia-like
* Brief reactive psychosis
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* Childhood schizophrenia
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* 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
| Neurological disorder | c0027765 | 29,527 | wikipedia | https://en.wikipedia.org/wiki/Neurological_disorder | 2021-01-18T18:49:10 | {"mesh": ["D009422"], "umls": ["C0027765"], "orphanet": ["98006"], "wikidata": ["Q3339235"]} |
Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features. Facial features may include upward-slanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small lower jaw (micrognathia), and cleft palate. Other features of FFS may include defects of the spinal bones (vertebrae), extra fingers or toes (polydactyly), ear defects, genitourinary abnormalities, underdeveloped lungs, abnormal kidney development, and patent ductus arteriosus. Intellectual development typically is normal.
The cause of FFS typically is not known, although genetic factors are thought to play a role. One case has been associated with a chromosome abnormality. Some cases have been reported in association with diabetes in the mother during pregnancy. Familial cases have rarely been described.
Treatment for FFS depends on the symptoms present in each person and may include surgery for the more serious bone deformities and/or other birth defects.
*[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
| Femoral facial syndrome | c0265263 | 29,528 | gard | https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome | 2021-01-18T18:00:30 | {"mesh": ["C537916"], "omim": ["134780"], "orphanet": ["1988"], "synonyms": ["Femoral dysgenesis, bilateral", "FFS", "Femoral hypoplasia unusual facies syndrome", "FHUFS"]} |
PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intellectual disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine (scoliosis) or a small hip socket that doesn't fully cover the upper thighbone, known as hip dysplasia;and short stature.
PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. This can be caused by a spelling mistake (variant or mutation) in the gene or by loss of one copy of the gene (deletion). Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy and surgery to correct any birth defects or bone problems. Early intervention is important.
*[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
| PURA syndrome | c4015357 | 29,529 | gard | https://rarediseases.info.nih.gov/diseases/12836/pura-syndrome | 2021-01-18T17:58:02 | {"omim": ["600473"], "synonyms": ["PURA-related neurodevelopmental disorder"]} |
A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.
*[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
| Ramon syndrome | c0796133 | 29,530 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3019 | 2021-01-23T18:05:23 | {"gard": ["7523"], "mesh": ["C535285"], "omim": ["266270"], "umls": ["C0796133"], "icd-10": ["Q87.8"], "synonyms": ["Cherubism-gingival fibromatosis-intellectual disability syndrome"]} |
Hallucinatory palinopsia
SpecialtyOphthalmology
Hallucinatory palinopsia is a subtype of palinopsia, a visual disturbance defined as the persistent or recurrence of a visual image after the stimulus has been removed.[1] Palinopsia is a broad term describing a group of symptoms which is divided into hallucinatory palinopsia and illusory palinopsia.[2] Hallucinatory palinopsia refers to the projection of an already-encoded visual memory and is similar to a complex visual hallucination: the creation of a formed visual image where none exists.
Hallucinatory palinopsia usually arises from posterior cortical lesions or seizures and can be the presenting symptom of a serious neurological disease. Hallucinatory palinopsia describes afterimages or scenes that are formed, long-lasting, high resolution, and isochromatic. The palinoptic images are not typically reliant on environmental parameters and often present with homonymous visual field deficits. Hallucinatory palinopsia occurs unpredictably and the persistent images can appear anywhere in the visual field, regardless of the location of the original stimulus. A patient will often have only a few episodes of hallucinatory palinopsia. Visual perseveration is synonymous with palinopsia. The term is from Greek: palin for "again" and opsia for "seeing".
## Contents
* 1 Signs and symptoms
* 1.1 Formed image perseveration
* 1.2 Scene perseveration
* 1.3 Categorical incorporation
* 1.4 Patterned visual spread
* 2 Cause
* 3 Pathophysiology
* 3.1 Cortical deafferentation
* 3.2 Epileptic discharges
* 3.3 Focal cortical irritation
* 4 Diagnosis
* 5 Treatment
* 6 References
## Signs and symptoms[edit]
Hallucinatory palinopsia consists of the following four symptom categories. A person often reports symptoms from multiple categories.
### Formed image perseveration[edit]
Formed image perseveration refers to a single, stationary object that remains fixed in one's visual field. These pathological afterimages look realistic and have the same color and clarity as the original stimulus. The palinopsia lasts at least 15 seconds, but may persist for hours or days. For example, a patient sees a cat, and an identical copy of the cat remains fixed in the field of view for 30 minutes.[3] A patient commonly complains of the perseverated fingers of an examiner. These afterimages often occur in visual field deficits but may occur anywhere in the visual field, regardless of the location of the original stimulus. The generation of the afterimages is not affected by external conditions such as the length of fixation, stimulus intensity, contrast, or motion. The palinoptic image can appear immediately after seeing the original image or may be delayed in time.
### Scene perseveration[edit]
Scene perseveration refers to seeing a previously-viewed, short stereotyped scene that continuously replays for several minutes. For example, a patient might view a person throwing a ball, and then an hour later, perceives the same action sequence repeated many times.[4] The palinoptic scene usually has the same color and clarity as the original. Our understanding of visual memory considers a short scene as a unit of memory, similar to an image,[5] thus scene perseveration is probably mechanistically related to formed image perseveration.
### Categorical incorporation[edit]
Categorical incorporation refers to seeing an object or feature and superimposing it onto comparable objects or people. For example, after seeing a person wearing a hat, that same hat is seen on each subsequent person seen. Or a person sees the spire of a building and then incorporates it to the top of other structures seen.[6] The palinoptic images have the same characteristics as the original stimulus, and episodes of categorical incorporation usually last a few minutes. Categorical incorporation highlights the brain's use of constructs to process stimuli.
### Patterned visual spread[edit]
Patterned visual spread describes the spread of a pattern in a field of view. For example, a patient sees a checkered pattern on a lamp, which then contiguously spreads to objects such as the floor or a desk. Contextual clues do not influence patterned visual spread, distinguishing it from categorical incorporation.
## Cause[edit]
Of the published cases of palinopsia from posterior cortical lesions or seizures, 93% described hallucinatory palinopsia.[2] Hallucinatory palinopsia may be caused by many types of posterior cortical lesions such as neoplasms,[7] infarctions,[8] hemorrhages,[9] arteriovenous malformations,[3] aneurysm,[1] abscesses,[10] and tuberculomas.[11] Hallucinatory palinopsia from seizures may be secondary to a focal cortical lesion or may be secondary to a non-structural disturbance. Causes of seizures that are reported to cause palinopsia include metabolic disturbances (hyperglycemia,[12] carnitine deficiency[13]), ion channel disturbances,[14] Creutzfeldt–Jakob disease,[15] and seizures of unknown cause.[16]
## Pathophysiology[edit]
Hallucinatory palinopsia is a dysfunction of visual memory, caused by localized cortical hyperexcitability or hyperactivity in the posterior visual pathway. Post-geniculate cortical lesions or seizures may cause cortical deafferentation, focal cortical irritation, and epileptic discharges, the proposed mechanisms of hallucinatory palinopsia.
### Cortical deafferentation[edit]
Palinopsia can occur from posterior visual pathway (post-geniculate) deafferentation, which causes homonymous visual field deficits. This mechanism is thought to be similar to the deafferentation hyperexcitability seen in visual release hallucinations (Charles Bonnet syndrome),[17] which are distinguished from palinopsia by whether the formed image or scene previously occurred. It is hypothesized that deafferentation hyperexcitability is the cause of neuropathic pain. Molecular changes from deafferentation include an increase in presynaptic neurotransmitter vesicles and heightened post-synaptic receptor sensitivity.[18]
### Epileptic discharges[edit]
Palinopsia from epileptic discharges, confirmed by electroencephalogram, have been reported during a seizure aura, during the seizure, or post-ictally.[4] The seizures can originate anywhere in the posterior visual pathway, depending on the location of the pathology. Palinoptic seizures rarely generalize, and there are case reports of palinopsia as the only symptom of a visual seizure.[4] If seizures are persistent, then continual palinoptic episodes often occur.
### Focal cortical irritation[edit]
Palinopsia, which occurs after neurosurgical procedures or cerebrovascular accidents, has been partly attributed to focal cortical irritation.[17][19] Symptoms are associated with perilesional hyperperfusion, which may reflect focal cortical instability and subsequent hyperactivity.[9]
While there are reports of palinopsia from each individual mechanism, there is usually a combination of the aforementioned mechanisms. For example, hallucinatory palinopsia may present in a patient with seizure symptoms and visual field deficits, after a neurosurgical procedure.[20] This suggests that the cortical hyperactivity from each mechanism is additive. "Hallucinatory palinopsia, once considered a disorder of the nondominant parieto-occipital lobe, has since been shown to occur from lesions in the dominant or non-dominant temporal, parietal, or occipital lobes. … The predominance of lesions in certain cortical areas is more likely due to the uneven distribution or functional variation of visual cortex-hippocampal neurons. ... All of the hallucinatory palinopsia symptoms occur concomitantly in a patient with one lesion, which supports current evidence that objects, features, and scenes are all units of visual memory, perhaps at different levels of processing. This alludes to neuroanatomical integration in visual memory creation and storage."[2]
## Diagnosis[edit]
Palinopsia necessitates a full ophthalmologic and neurologic history and physical exam. Hallucinatory palinopsia warrants automated visual field testing and neuroimaging since the majority of hallucinatory palinopsia is caused by posterior cortical lesions and seizures. It is generally easy to diagnose the underlying cause of hallucinatory palinopsia. The medical history typically includes concerning symptoms, and neuroimaging usually reveals cortical lesions. In patients with hallucinatory palinopsia and unremarkable neuroimaging, blood tests or clinical history often hints at the cause. The practitioner should be considering visual seizures in these cases.
## Treatment[edit]
Palinopsia from cerebrovascular accidents generally resolves spontaneously, and treatment should be focused on the vasculopathic risk factors. Palinopsia from neoplasms, AVMs, or abscesses require treatment of the underlying condition, which usually also resolves the palinopsia. Palinopsia due to seizures generally resolves after correcting the primary disturbance and/or treating the seizures. In persistent hallucinatory palinopsia, a trial of an anti-epileptic drug can be attempted. Anti-epileptics reduce cortical excitability and could potentially treat palinopsia caused by cortical deafferentation or cortical irritation. Patients with idiopathic hallucinatory palinopsia should have close follow-up.[2]
## References[edit]
1. ^ a b Bender, MB; Feldman, M; Sobin, AJ (Jun 1968). "Palinopsia". Brain : A Journal of Neurology. 91 (2): 321–38. doi:10.1093/brain/91.2.321. PMID 5721933.
2. ^ a b c d Gersztenkorn, D; Lee, AG (Jul 2, 2014). "Palinopsia revamped: A systematic review of the literature". Survey of Ophthalmology. 60 (1): 1–35. doi:10.1016/j.survophthal.2014.06.003. PMID 25113609.
3. ^ a b Kupersmith, MJ; Berenstein, A; Nelson, PK; ApSimon, HT; Setton, A (Jan 1, 1999). "Visual symptoms with dural arteriovenous malformations draining into occipital veins". Neurology. 52 (1): 156–62. doi:10.1212/wnl.52.1.156. PMID 9921864.
4. ^ a b c Müller, T; Büttner, T; Kuhn, W; Heinz, A; Przuntek, H (Jun 1995). "Palinopsia as sensory epileptic phenomenon". Acta Neurologica Scandinavica. 91 (6): 433–6. doi:10.1111/j.1600-0404.1995.tb00442.x. PMID 7572036.
5. ^ Brady, TF; Konkle, T; Alvarez, GA (May 26, 2011). "A review of visual memory capacity: Beyond individual items and toward structured representations". Journal of Vision. 11 (5): 4. doi:10.1167/11.5.4. PMC 3405498. PMID 21617025.
6. ^ Ziaei, M; Elgohary, MA; Bremner, FD (Oct 2013). "Palinopsia as the initial manifestation of non-hodgkin's lymphoma". International Ophthalmology. 33 (5): 553–6. doi:10.1007/s10792-012-9682-6. PMID 23188189.
7. ^ Kondziella, D; Maetzel, H (May 2006). "The sting in the tail: syncope and palinopsia". Journal of Neurology. 253 (5): 657–8. doi:10.1007/s00415-006-0012-7. PMID 16767544.
8. ^ Vaphiades, MS; Celesia, GG; Brigell, MG (Aug 1996). "Positive spontaneous visual phenomena limited to the hemianopic field in lesions of central visual pathways". Neurology. 47 (2): 408–17. doi:10.1212/wnl.47.2.408. PMID 8757013.
9. ^ a b Hayashi, R; Shimizu, S; Watanabe, R; Katsumata, Y; Mimura, M (Mar 2002). "Palinopsia and perilesional hyperperfusion following subcortical hemorrhage". Acta Neurologica Scandinavica. 105 (3): 228–31. doi:10.1034/j.1600-0404.2002.1c217.x. PMID 11886369.
10. ^ Patterson, MC; Bunce, IH; Eadie, MJ (1985). "Cerebral abscess in leukaemia: an unusual presentation of a rare complication". Clinical and Experimental Neurology. 21: 257–62. PMID 3870434.
11. ^ Werring, DJ; Marsden, CD (May 1999). "Visual hallucinations and palinopsia due to an occipital lobe tuberculoma". Journal of Neurology, Neurosurgery, and Psychiatry. 66 (5): 684. doi:10.1136/jnnp.66.5.684. PMC 1736321. PMID 10209190.
12. ^ Johnson, SF; Loge, RV (Mar 1988). "Palinopsia due to nonketotic hyperglycemia". The Western Journal of Medicine. 148 (3): 331–2. PMC 1026113. PMID 3363966.
13. ^ Kim, H; Chu, K; Jung, KH; Lee, ST; Kim, JM; Lee, SK (Dec 2012). "Acquired encephalopathy associated with carnitine deficiency after cefditoren pivoxil administration". Neurological Sciences. 33 (6): 1393–6. doi:10.1007/s10072-012-0939-7. PMID 22258360.
14. ^ Engelsen, BA; Tzoulis, C; Karlsen, B; Lillebø, A; Laegreid, LM; Aasly, J; Zeviani, M; Bindoff, LA (Mar 2008). "POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection" (PDF). Brain : A Journal of Neurology. 131 (Pt 3): 818–28. doi:10.1093/brain/awn007. PMID 18238797.
15. ^ Purvin, V; Bonnin, J; Goodman, J (Dec 1989). "Palinopsia as a presenting manifestation of Creutzfeldt–Jakob disease". Journal of Clinical Neuro-ophthalmology. 9 (4): 242–6, discussion 247–8. PMID 2531161.
16. ^ Silva, JA; Tekell, JL; Penny, G; Bowden, CL (Jan 1997). "Resolution of palinopsia with carbamazepine". The Journal of Clinical Psychiatry. 58 (1): 30. doi:10.4088/jcp.v58n0106a. PMID 9055835.
17. ^ a b Cummings, JL; Syndulko, K; Goldberg, Z; Treiman, DM (Apr 1982). "Palinopsia reconsidered". Neurology. 32 (4): 444–7. doi:10.1212/wnl.32.4.444. PMID 7199671.
18. ^ Burke, W (Nov 2002). "The neural basis of Charles Bonnet hallucinations: a hypothesis". Journal of Neurology, Neurosurgery, and Psychiatry. 73 (5): 535–41. doi:10.1136/jnnp.73.5.535. PMC 1738134. PMID 12397147.
19. ^ Jacobs, L; Feldman, M; Bender, MB (Dec 29, 1972). "The persistence of visual or auditory percepts as symptoms of irritative lesions of the cerebrum of man". Zeitschrift für Neurologie. 203 (3): 211–8. doi:10.1007/bf00316112. PMID 4120706.
20. ^ Ardila, A; Botero, M; Gomez, J (Feb 1987). "Palinopsia and visual allesthesia". The International Journal of Neuroscience. 32 (3–4): 775–82. doi:10.3109/00207458709043332. PMID 3596922.
*[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
| Hallucinatory palinopsia | None | 29,531 | wikipedia | https://en.wikipedia.org/wiki/Hallucinatory_palinopsia | 2021-01-18T18:47:40 | {"wikidata": ["Q17747031"]} |
A number sign (#) is used with this entry because of evidence that the disorder is caused by mutation in the ZNF750 gene (610226).
Clinical Features
Birnbaum et al. (2006) described an Israeli Jewish Moroccan family presenting with autosomal dominant seborrhea-like dermatitis with psoriasiform elements, including enhanced keratinocyte proliferation, parakeratosis, follicular plugging, Pityrosporum ovale overgrowth, and dermal CD4 lymphocyte infiltration. The disorder had occurred in 44 individuals in 5 generations. All affected family members presented by 10 years of age with a similar phenotype: a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash was exacerbated in winter, as well as with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles, and metacarpophalangeal joints was evident. There was no arthralgia, arthritis, or neurologic disorder. Skin biopsies demonstrated mild psoriasiform thickening (acanthosis) of the epidermis, hyperkeratosis, focal and shouldering parakeratosis, scale crusts, follicular hyperkeratotic plugs, and overgrowth of Pityrosporum ovale. There was no significant spongiosis typical of seborrheic dermatitis, and no evidence of clusters of neutrophils in parakeratotic layers as seen in psoriasis.
Mapping
By genomewide linkage analysis of 18 family members, Birnbaum et al. (2006) mapped the disorder to the telomeric end of chromosome 7q25 with a maximum multipoint lod score of 8.79. This region overlaps the locus for psoriasis susceptibility-2 (PSORS2; 602723).
Molecular Genetics
In all affected members of the family with seborrhea-like dermatitis with psoriasiform elements studied by them, Birnbaum et al. (2006) identified heterozygosity for a frameshift mutation in the ZNF750 gene (610226.0001), which encodes a putative C2H2 zinc finger protein. ZNF750 is normally expressed in keratinocytes but not in fibroblasts and is barely detectable in CD4 lymphocytes.
*[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
| SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS | c1853258 | 29,532 | omim | https://www.omim.org/entry/610227 | 2019-09-22T16:04:53 | {"mesh": ["C565217"], "omim": ["610227"], "orphanet": ["168606"]} |
A process causing increased acidity in the blood and other body tissues
For acidosis referring to acidity of the urine, see Renal tubular acidosis.
"Acidemia" redirects here. It is not to be confused with Academia.
Acidosis is a process causing increased acidity in the blood and other body tissues (i.e., an decrease hydrogen ion concentration). If not further qualified, it usually refers to acidity of the blood plasma.
The term acidemia describes the state of low blood pH, while acidosis is used to describe the processes leading to these states. Nevertheless, the terms are sometimes used interchangeably. The distinction may be relevant where a patient has factors causing both acidosis and alkalosis, wherein the relative severity of both determines whether the result is a high, low, or normal pH.
Acidemia is said to occur when arterial pH falls below 7.35 (except in the fetus – see below), while its counterpart (alkalemia) occurs at a pH over 7.45. Arterial blood gas analysis and other tests are required to separate the main causes.
The rate of cellular metabolic activity affects and, at the same time, is affected by the pH of the body fluids. In mammals, the normal pH of arterial blood lies between 7.35 and 7.50 depending on the species (e.g., healthy human-arterial blood pH varies between 7.35 and 7.45). Blood pH values compatible with life in mammals are limited to a pH range between 6.8 and 7.8. Changes in the pH of arterial blood (and therefore the extracellular fluid) outside this range result in irreversible cell damage.[1]
## Contents
* 1 Signs and symptoms
* 2 Metabolic acidosis
* 2.1 Treatment
* 2.2 Fetal metabolic acidemia
* 3 Respiratory acidosis
* 3.1 Fetal respiratory acidemia
* 4 See also
* 5 References
* 6 External links
## Signs and symptoms[edit]
General symptoms of acidosis.[2] These usually accompany symptoms of another primary defect (respiratory or metabolic).
Nervous system involvement may be seen with acidosis and occurs more often with respiratory acidosis than with metabolic acidosis. Signs and symptoms that may be seen in acidosis include headaches, confusion, feeling tired, tremors, sleepiness, flapping tremor, and dysfunction of the cerebrum of the brain which may progress to coma if there is no intervention.[2]
## Metabolic acidosis[edit]
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Main article: Metabolic acidosis
Metabolic acidosis may result from either increased production of metabolic acids, such as lactic acid, or disturbances in the ability to excrete acid via the kidneys, such as either renal tubular acidosis or the acidosis of kidney failure, which is associated with an accumulation of urea and creatinine as well as metabolic acid residues of protein catabolism.
An increase in the production of other acids may also produce metabolic acidosis. For example, lactic acidosis may occur from:
1. severe (PaO2 <36mm Hg) hypoxemia causing a fall in the rate of oxygen diffusion from arterial blood to tissues.
2. hypoperfusion (e.g., hypovolemic shock) causing an inadequate blood delivery of oxygen to tissues.
A rise in lactate out of proportion to the level of pyruvate, e.g., in mixed venous blood, is termed "excess lactate", and may also be an indicator of fermentation due to anaerobic metabolism occurring in muscle cells, as seen during strenuous exercise. Once oxygenation is restored, the acidosis clears quickly. Another example of increased production of acids occurs in starvation and diabetic ketoacidosis. It is due to the accumulation of ketoacids (via excessive ketosis) and reflects a severe shift from glycolysis to lipolysis for energy needs.
Acid consumption from poisoning such as methanol ingestion, elevated levels of iron in the blood, and chronically decreased production of bicarbonate may also produce metabolic acidosis.
Metabolic acidosis is compensated for in the lungs, as increased exhalation of carbon dioxide promptly shifts the buffering equation to reduce metabolic acid. This is a result of stimulation to chemoreceptors, which increases alveolar ventilation, leading to respiratory compensation, otherwise known as Kussmaul breathing (a specific type of hyperventilation). Should this situation persist, the patient is at risk for exhaustion leading to respiratory failure.
Mutations to the V-ATPase 'a4' or 'B1' isoforms result in distal renal tubular acidosis, a condition that leads to metabolic acidosis, in some cases with sensorineural deafness.
Arterial blood gases will indicate low pH, low blood HCO3, and normal or low PaCO2. In addition to arterial blood gas, an anion gap can also differentiate between possible causes.
The Henderson-Hasselbalch equation is useful for calculating blood pH, because blood is a buffer solution. In the clinical setting, this equation is usually used to calculate HCO3 from measurements of pH and PaCO2 in arterial blood gases. The amount of metabolic acid accumulating can also be quantitated by using buffer base deviation, a derivative estimate of the metabolic as opposed to the respiratory component. In hypovolemic shock for example, approximately 50% of the metabolic acid accumulation is lactic acid, which disappears as blood flow and oxygen debt are corrected.
### Treatment[edit]
Treatment of uncompensated metabolic acidosis is focused upon correcting the underlying problem. When metabolic acidosis is severe and can no longer be compensated for adequately by the lungs or kidneys, neutralizing the acidosis with infusions of bicarbonate may be required.
### Fetal metabolic acidemia[edit]
In the fetus, the normal range differs based on which umbilical vessel is sampled (umbilical vein pH is normally 7.25 to 7.45; umbilical artery pH is normally 7.18 to 7.38).[3] Fetal metabolic acidemia is defined as an umbilical vessel pH of less than 7.20 and a base excess of less than −8.[4]
## Respiratory acidosis[edit]
Main article: Respiratory acidosis
Respiratory acidosis results from a build-up of carbon dioxide in the blood (hypercapnia) due to hypoventilation. It is most often caused by pulmonary problems, although head injuries, drugs (especially anaesthetics and sedatives), and brain tumors can cause this acidemia. Pneumothorax, emphysema, chronic bronchitis, asthma, severe pneumonia, and aspiration are among the most frequent causes. It can also occur as a compensatory response to chronic metabolic alkalosis.
One key to distinguish between respiratory and metabolic acidosis is that in respiratory acidosis, the CO2 is increased while the bicarbonate is either normal (uncompensated) or increased (compensated). Compensation occurs if respiratory acidosis is present, and a chronic phase is entered with partial buffering of the acidosis through renal bicarbonate retention.
However, in cases where chronic illnesses that compromise pulmonary function persist, such as late-stage emphysema and certain types of muscular dystrophy, compensatory mechanisms will be unable to reverse this acidotic condition. As metabolic bicarbonate production becomes exhausted, and extraneous bicarbonate infusion can no longer reverse the extreme buildup of carbon dioxide associated with uncompensated respiratory acidosis, mechanical ventilation will usually be applied.[5][6]
### Fetal respiratory acidemia[edit]
In the fetus, the normal range differs based on which umbilical vessel is sampled (umbilical vein pH is normally 7.25 to 7.45; umbilical artery pH is normally 7.20 to 7.38).[3] In the fetus, the lungs are not used for ventilation. Instead, the placenta performs ventilatory functions (gas exchange). Fetal respiratory acidemia is defined as an umbilical vessel pH of less than 7.20 and an umbilical artery PCO2 of 66 or higher or umbilical vein PCO2 of 50 or higher.[4]
## See also[edit]
* Acid–base homeostasis
* Acid–base imbalance
* Alkalinizing agent
* Alkaline diet
* Arterial blood gas
* Chemical equilibrium
* Lactic acidosis
* pCO2
* pKa
## References[edit]
1. ^ Needham, A. 2004. Comparative and Environmental Physiology. Acidosis and Alkalosis.
2. ^ a b Yee AH, Rabinstein AA (February 2010). "Neurologic presentations of acid-base imbalance, electrolyte abnormalities, and endocrine emergencies". Neurol Clin. 28 (1): 1–16. doi:10.1016/j.ncl.2009.09.002. PMID 19932372.
3. ^ a b Yeomans, ER; Hauth, JC; Gilstrap, LC III; Strickland DM (1985). "Umbilical cord pH, PCO2, and bicarbonate following uncomplicated term vaginal deliveries (146 infants)". Am J Obstet Gynecol. 151: 798–800. doi:10.1016/0002-9378(85)90523-x. PMID 3919587.
4. ^ a b Pomerance, Jeffrey (2004). Interpreting Umbilical Cord Gases: For Clinicians Caring for the Fetus or Newborn. Pasadena, CA: BNMG. ISBN 978-0-9752621-0-8.
5. ^ "MedlinePlus Medical Encyclopedia: Respiratory acidosis". Archived from the original on 11 December 2008. Retrieved 2008-12-06.
6. ^ "eMedicine - Respiratory Acidosis : Article by Jackie A Hayes". Archived from the original on October 29, 2008. Retrieved 2008-12-06.
Notes
* Hobler KE, Carey LC. Effect of acute progressive hypoxemia on cardiac output and plasma excess lactate. Ann. Surg. 1973 Feb;177(2):199-202.
* Hobler KE, Napodano RJ. Tolerance of swine to acute blood volume deficits. J Trauma. 1974 Aug;14(8):716-8.
* Rose, BD, Post TW. Clinical Physiology of Acid-Base and Electrolyte Disorders, 5th ed. (No content available.) 2000. New York: McGraw Hill Professional.
## External links[edit]
Classification
D
* ICD-10: E87.2
* ICD-9-CM: 276.2
* MeSH: D000138
* DiseasesDB: 87
External resources
* MedlinePlus: 001181
* v
* t
* e
Acid–base disorders
Acidosis
Metabolic
* High anion gap
* Ketoacidosis
* Diabetic ketoacidosis
* Alcoholic ketoacidosis
* Lactic
* Normal anion gap
* Hyperchloremic
* Renal tubular
Respiratory
* Respiratory
Alkalosis
* Metabolic
* Contraction alkalosis
* Respiratory
Other
* Mixed disorder of acid-base balance
* Acid–base homeostasis
Look up acidosis in Wiktionary, the free dictionary.
*[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
| Acidosis | c0001122 | 29,533 | wikipedia | https://en.wikipedia.org/wiki/Acidosis | 2021-01-18T18:28:34 | {"mesh": ["D000138"], "umls": ["C0001122"], "icd-9": ["276.2"], "icd-10": ["E87.2"], "wikidata": ["Q185089"]} |
Constructional apraxia is characterized by an inability or difficulty to build, assemble, or draw objects.[1][2][3] Apraxia is a neurological disorder in which people are unable to perform tasks or movements even though they understand the task, are willing to complete it, and have the physical ability to perform the movements.[4] Constructional apraxia may be caused by lesions in the parietal lobe following stroke or it may serve as an indicator for Alzheimer's disease.
## Contents
* 1 Signs and symptoms
* 1.1 Left hemisphere damage
* 1.2 Right hemisphere damage
* 1.3 Alzheimer's disease
* 2 Causes
* 3 Mechanisms
* 3.1 Drawing
* 3.1.1 Kosslyn and Koeing model
* 3.1.2 Van Sommers model
* 3.1.3 Other theories
* 3.2 Construction
* 3.3 Neuropsychological mechanisms
* 4 Diagnosis
* 5 Treatment
* 6 History
* 7 References
* 8 Further reading
## Signs and symptoms[edit]
A key deficit in constructional apraxia patients is the inability to correctly copy or draw an image. There are qualitative differences between patients with left hemisphere damage, right hemisphere damage, and Alzheimer's disease.[1][5]
### Left hemisphere damage[edit]
Patients with damage to their left hemisphere tend to preserve items, oversimplify drawing features[2] and omit details when drawing from memory. In addition, left hemisphere patients are less likely to systematically arrange the parts of their drawing.[6]
### Right hemisphere damage[edit]
Patients with damage to their right hemisphere have trouble correctly replicating spatial relationships of complex figures. Drawing elements are often piecemeal, transposed to different positions or orientations, or shown diagonally on the page.[2] As a result, right hemisphere patients tend to produce asymmetric or distorted drawings[6] characterized by hemispatial neglect, the omission of elements from one side of the model.[7] It was once thought that right hemisphere patients were twice as likely to make mistakes in 3D construction tasks as left hemisphere patients but this inaccurate conclusion was attributable to participant selection bias in that researchers excluded from studies individuals with severe left hemisphere lesions due to the debilitating language impairments of those individuals. However, included in studies were individuals with severe right hemisphere lesions.[8] Subsequent research has substantiated the absence of a marked difference in performance between left and right hemisphere patients on 3D construction tasks.[9]
### Alzheimer's disease[edit]
Alzheimer's disease patients with constructional apraxia have unique symptoms. Their drawings contain fewer angles, spatial alterations, a lack of perspective and simplifications, which are uncharacteristic of left hemisphere or right hemisphere patients. Constructional disabilities are present early on in the disease and get progressively worse over time;[5] however even patients with advanced Alzheimer's disease may be able to do some constructional tasks.[10] Spontaneous drawing is affected early and is heavily dependent upon semantic memory; therefore simplifications in the drawing may be due to impaired access to semantic knowledge. As Alzheimer's disease progresses, the patient's ability to copy objects becomes increasingly impaired and they may lose the ability to correctly draw simple figures due to a motor loss in routine memories.[5]
## Causes[edit]
Constructional apraxia cannot be localized to a specific hemisphere or cerebral area because drawing and constructional tasks require both perceptual and motor functioning.[7][9] It has been linked to parietal lesions in the left and right hemisphere, stroke and Alzheimer's disease.
Initially, researchers tried to isolate the cause to left hemisphere lesions in the parietal lobe because of its similarities to Gerstmann syndrome; however, lesions in the dorsal stream also result in visual agnosia and a piecemeal drawing.[1] Although constructional apraxia can result from lesions in any part of the brain, it is most commonly associated with lesions in the parietal-occipital lobes. Constructional apraxia is common after right parietal stroke and it continues after visuospatial symptoms have subsided.[2] Patients with posterior and parietal lobe lesions tend to have the most severe symptoms.[9]
In Alzheimer's disease research, the AT8 antibody has proven to be an early indicator of tau protein pathology. Constructional apraxia patients with the most AT8 pathology were least able to copy an image, while those best able to had the least neuritic pathology. Therefore, figure copying ability is highly correlated with Alzheimer's disease pathology.[10]
## Mechanisms[edit]
### Drawing[edit]
As the study of constructional apraxia impairments narrows, research is concentrating on analyzing drawing abilities. Drawing abilities may be decomposed into three steps: visual perception, visual imagery, and graphic production.
According to the two-streams hypothesis, as information exits the occipital lobe it follows two pathways. The dorsal stream ("where pathway") ends in the parietal lobe while the ventral stream ("what pathway") terminates in the temporal lobe.[7][11] Damage to the parietal lobe is highly correlated with constructional apraxia since it is involved in drawing and copying. The parietal lobe is also critical for remapping spatial position across saccades.[2] There is an attentional subsystem responsible for moving the eyes, head, and body to focus on different images. Damage at various levels of this system could lead to trouble localizing a stimulus or hemispatial neglect which manifests as perseverative errors on the drawing.[12] There are a couple theories used to describe the neurological mechanisms behind drawing.
#### Kosslyn and Koeing model[edit]
Kosslyn proposes that there is an early split of information in the dorsal stream. The first pathway captures coordinate relations by defining distances between points in space. These points become a continuum which can transform into other points through intermediate points. This coding of points would allow space to be perceived qualitatively, which would also help with movement.[7]
The other pathway encodes "categorical" information, which synthesizes information about the shape and spatial arrangement of an objects parts. It decomposes objects into their most basic form, by looking for boundaries, lines, or patches. These categorical relations in turn lead to abstract spatial relations that allow one to perceive objects as being "on top," "inside," "between," "beside," etc.[7]
#### Van Sommers model[edit]
The Van Sommers model describes two hierarchical systems for drawing: one for visual perception, another for graphic production. The visual perception model utilizes David Marr's three stage system to describe visual perception in copying. In the first stage, an image us represented in 2D based on changes in intensity. Foreground and background are not distinguished. In the second stage, a 2.5D representation is formed which encodes the object in a viewer-centered coordinate system. Finally a 3D object-centered representation is established making it possible to appreciate volume. Visual representations of familiar drawings are stored in memory. This representation sends feedback to the other areas of the brain which encoded the spatial and physical properties of the object. Feedback from these areas allows the drawer to successfully encode the coordinate and categorical relations.[1][13]
In the graphic production model, the viewer begins by making a series of depiction decisions about the dimensions, amount of detail to include, etc. Depiction decisions are not used when copying a drawing because they're dictated by the situation. Next, the production strategy is formed. If the drawing is unfamiliar, then the drawer will divide and rank the different portions of the drawings. If the drawing is familiar (e.g. a sun), then the drawer will reproduce the item line by lie regardless of the pictures organization due to automatic execution. The third component, contingent planning, reflects the importance of planning in drawing. Contingent planning is a result of production strategy. If the drawing is unfamiliar and requires a segmented approach, then the most appropriate sequence is determined before the drawing. At this point, the drawing task becomes a problem solving task. The fourth and final component of the model refers to the articulatory and economic constraints placed on the drawer by using a pencil. Certain directions are favored due to the orientation of the hand and fingers, etc. However, some feel the Van Sommers model does not adequately account for all aspects of drawing.[1][13]
#### Other theories[edit]
Drawing from memory in response to a verbal order requires the image to be recalled from associative memory and brought into the visual buffer. Once there, it can be successfully drawn and copied from memory. Familiar images (like the sun) may not require visual imagery to draw, as the production schemes and action programming stored in the associative memory and procedural memory may be sufficient to reproduce the drawing.
### Construction[edit]
Construction problems are usually caused by visual perception deficits. They require normal vision and the ability to execute a series of motor activities. When looking at performance, it is important to consider perceptual and executive functioning. A patient with trouble visually recognizing patterns or spatial relations may have difficulty correctly building a model. In addition, problems planning, organizing, or carrying out action may impede the ability to solve a construction problem.[9]
### Neuropsychological mechanisms[edit]
Modern attempts to understand constructional apraxia have moved away from anatomical functions towards a cognitive neuropsychological approach. Both adults and children alike experience difficulty reproducing oblique lines. Some feel that these deficiencies may be attributed to planning since it is easier to plan horizontal and vertical lines than oblique lines. Research indicates that both adults and children are more able to draw squares than diamonds, although as children grow into adults they are more accurately able to depict diamonds.[6]
One study showed that constructional apraxia patients were significantly less accurate than the control patients in producing angles with vertical and horizontal orientations. In this study, constructional apraxia patients drew patterns usually found in children 8 and younger. Gregory argues that ontogenetically and phylogenically earlier behavioral traits are present in the brain, but inhibited. When these inhibitory mechanisms become compromised, then the childlike behavior patterns re-emerge. Therefore, according to this theory, the inhibitory mechanisms in patients with constructional apraxia have failed, causing them to draw like young children who have difficulty drawing oblique lines.[6]
## Diagnosis[edit]
Constructional disabilities are often tested by asking the patient to draw a 2D model or assemble an object. Some researchers feel that neuronal mechanisms involved in drawing and copying differ, thus they should be tested individually. Free drawing is a commonly used test in which the patient is asked to draw a named object. It can be an effective tool in measuring the patient's ability to maintain spatial relations, organize the drawing, and draw complete shapes. The complexity of the task should be noted as such tasks often require lexical-semantic abilities as well as imagery abilities.[5]
## Treatment[edit]
Motor imagery has been explored as a potential therapy for constructional apraxia patients. Motor imagery is a process by which a specific action is mimicked in the working memory without a corresponding motor output. Since constructional apraxia is a visuospatial problem not a motor problem, rehabilitation-treatment based on motor imagery has not proven to be an effective in patients with right hemisphere stroke or hemispatial neglect.[14]
## History[edit]
In 1934, Karl Kleist characterized constructional apraxia as a disturbance "in formative activities such as assembling, building and drawing, in which the spatial form of the product proves to be unsuccessful, without there being an apraxia for single movements."[15][16] In the years following, the definition of constructional apraxia diverged. There were those who felt it was an executive processing order and those who felt it was a visuospatial disorder. Due to discrepancies in definitions, constructional apraxia became a blanket term to describe any kind of constructional impairment. Modern researchers question whether the term "apraxia" is appropriate to describe this condition.[5]
## References[edit]
1. ^ a b c d e Guérin F, Ska B, Belleville S (August 1999). "Cognitive processing of drawing abilities". Brain Cogn. 40 (3): 464–78. doi:10.1006/brcg.1999.1079. PMID 10415132.
2. ^ a b c d e Russell C, Deidda C, Malhotra P, Crinion JT, Merola S, Husain M (April 2010). "A deficit of spatial remapping in constructional apraxia after right-hemisphere stroke". Brain. 133 (Pt 4): 1239–51. doi:10.1093/brain/awq052. PMID 20375139.
3. ^ Caminiti R, Chafee MV, Battaglia-Mayer A, Averbeck BB, Crowe DA, Georgopoulos AP (June 2010). "Understanding the parietal lobe syndrome from a neurophysiological and evolutionary perspective". Eur. J. Neurosci. 31 (12): 2320–40. doi:10.1111/j.1460-9568.2010.07291.x. PMC 2900452. PMID 20550568.
4. ^ "apraxia" at Dorland's Medical Dictionary
5. ^ a b c d e Behrmann, Marlene; Boller, François; Grafman, Jordan (2001). Disorders of visual behavior. Amsterdam: Elsevier. pp. 99–118. ISBN 0-444-50360-9. OCLC 47703916.
6. ^ a b c d Smith AD, Gilchrist ID (April 2005). "Drawing from childhood experience: constructional apraxia and the production of oblique lines" (PDF). Cortex. 41 (2): 195–204. doi:10.1016/S0010-9452(08)70894-3. PMID 15714902. Archived from the original (PDF) on 2016-03-04. Retrieved 2013-08-14.
7. ^ a b c d e Laeng B (2006). "Constructional apraxia after left or right unilateral stroke". Neuropsychologia. 44 (9): 1595–606. doi:10.1016/j.neuropsychologia.2006.01.023. PMID 16516249.
8. ^ Bonato M, Sella F, Verteltti I, Umilta C (June 2011). "Neuropsychology is nothing with out control: A potential fallacy hidden in clinical studies". Cortex. 48 (6): 353–355. doi:10.1016/j.cortex.2011.06.017. PMID 21783188.
9. ^ a b c d Capruso DX; Hamsher Kd (June 2011). "Constructional ability in two- versus three-dimensions: relationship to spatial vision and locus of cerebrovascular lesion". Cortex. 47 (6): 696–705. doi:10.1016/j.cortex.2010.05.001. PMID 20547388.
10. ^ a b Nielson KA, Cummings BJ, Cotman CW (November 1996). "Constructional apraxia in Alzheimer's disease correlates with neuritic neuropathology in occipital cortex". Brain Res. 741 (1–2): 284–93. doi:10.1016/S0006-8993(96)00983-3. PMID 9001734.
11. ^ Milner, A. David (1995). The Visual Brain in Action. p. 128. ISBN 0198521367.
12. ^ Makuuchi M, Kaminaga T, Sugishita M (May 2003). "Both parietal lobes are involved in drawing: a functional MRI study and implications for constructional apraxia". Brain Res Cogn Brain Res. 16 (3): 338–47. doi:10.1016/S0926-6410(02)00302-6. PMID 12706214.
13. ^ a b Bouaziz, Serge; Magnan, Annie (2007). "Contribution of the visual perception and graphic production systems to the copying of complex geometrical drawings: A developmental study". Cognitive Development. 22 (1): 5–15. doi:10.1016/j.cogdev.2006.10.002. ISSN 0885-2014.
14. ^ Vromen A, Verbunt JA, Rasquin S, Wade DT (2011). "Motor imagery in patients with a right hemisphere stroke and unilateral neglect". Brain Inj. 25 (4): 387–93. doi:10.3109/02699052.2011.558041. PMID 21355672.
15. ^ Kleist K (1934). "Gehirnpathologie" (in German). Leipzig: Barth. Konstruktive (optische) Apraxie. Cite journal requires `|journal=` (help)
16. ^ Benton, AL (2000). "6, Spatial thinking in neurological patients: Historical aspects". Exploring the history of neuropsychology: selected papers. Oxford [Oxfordshire]: Oxford University Press. ISBN 0-19-513808-2. OCLC 42935803.
## Further reading[edit]
* Trombly, Catherine Anne; Radomski, Mary Vining; Latham, Catherine A. Trombly (2008). Occupational therapy for physical dysfunction. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. pp. 250–251. ISBN 978-0-7817-6312-7. OCLC 77476548.
*[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
| Constructional apraxia | c2243023 | 29,534 | wikipedia | https://en.wikipedia.org/wiki/Constructional_apraxia | 2021-01-18T18:53:17 | {"umls": ["C2243023"], "icd-9": ["784.69"], "icd-10": ["R48.2"], "wikidata": ["Q3620998"]} |
Galactosialidosis affects many different body systems, including the brain, eyes, muscles, and skeleton. There are three different types: early infantile, late infantile and juvenile/adult. The most common type is juvenile/adult galactosialidosis. Individuals with this type start developing symptoms in adolescence. Symptoms include difficulty walking, vision problems, spine abnormalities, dark red spots on the skin, and intellectual disability that gets worse with time. Symptoms of the early infantile and late infantile types are more severe and begin in infancy or early childhood. In these types, the symptoms tend to get worse over time and are associated with decreased survival. All three types of galactosialidosis are caused by variations in the CTSA gene and are inherited in an autosomal recessive pattern. Galactosialidosis is diagnosed based on a clinical exam, the symptoms, and genetic testing. Treatment is focused on managing the symptoms.
*[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
| Galactosialidosis | c0268233 | 29,535 | gard | https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis | 2021-01-18T18:00:23 | {"mesh": ["C536411"], "omim": ["256540"], "umls": ["C0268233"], "orphanet": ["351"], "synonyms": ["Goldberg syndrome", "Neuraminidase deficiency with beta-galactosidase deficiency", "Lysosomal protective protein deficiency of", "Protective protein/Cathepsin A deficiency", "Cathepsin A deficiency of", "GSL", "Neuraminidase/beta-galactosidase expression", "PPCA deficiency"]} |
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
*[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
| Intellectual disability-brachydactyly-Pierre Robin syndrome | c1837564 | 29,536 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364577 | 2021-01-23T17:41:39 | {"mesh": ["C563880"], "omim": ["608670"], "umls": ["C1837564"], "icd-10": ["Q87.0"]} |
Defect in the structure of the heart that is present at birth
Congenital heart defect
Other namesCongenital heart anomaly, congenital heart disease
The normal structure of the heart (left) in comparison to two common locations for a ventricular septal defect (right), the most common form of congenital heart defect.[1]
SpecialtyCardiology
SymptomsRapid breathing, bluish skin, poor weight gain, feeling tired[2]
ComplicationsHeart failure[2]
TypesCyanotic heart defects, non-cyanotic heart defects[3]
CausesOften unknown[4]
Risk factorsRubella infection during pregnancy, alcohol or tobacco, parents being closely related, poor nutritional status or obesity in the mother[3][5]
TreatmentNone, catheter based procedures, heart surgery, heart transplantation[6][3]
PrognosisGenerally good (with treatment)[7]
Frequency48.9 million (2015)[8]
Deaths303,300 (2015)[9]
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth.[7] Signs and symptoms depend on the specific type of defect.[3] Symptoms can vary from none to life-threatening.[7] When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired.[2] CHD does not cause chest pain.[2] Most congenital heart defects are not associated with other diseases.[3] A complication of CHD is heart failure.[2]
The cause of a congenital heart defect is often unknown.[4] Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother.[3][5] Having a parent with a congenital heart defect is also a risk factor.[10] A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome.[3] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color.[3] The defects may involve the interior walls of the heart, the heart valves, or the large blood vessels that lead to and from the heart.[7]
Congenital heart defects are partly preventable through rubella vaccination, the adding of iodine to salt, and the adding of folic acid to certain food products.[3] Some defects do not need treatment.[7] Others may be effectively treated with catheter based procedures or heart surgery.[6] Occasionally a number of operations may be needed,[6] or a heart transplant may be required.[6] With appropriate treatment, outcomes are generally good, even with complex problems.[7]
Congenital heart defects are the most common birth defect.[3][11] In 2015, they were present in 48.9 million people globally.[8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.[3][10] In about 6 to 19 per 1,000 they cause a moderate to severe degree of problems.[10] Congenital heart defects are the leading cause of birth defect-related deaths:[3] in 2015, they resulted in 303,300 deaths, down from 366,000 deaths in 1990.[9][12]
## Contents
* 1 Signs and symptoms
* 1.1 Associated conditions
* 2 Causes
* 2.1 Genetic
* 2.1.1 Molecular pathways
* 2.2 Environmental
* 3 Mechanism
* 3.1 Changes at birth
* 3.2 Theories
* 4 Diagnosis
* 4.1 Classification
* 4.1.1 Hypoplasia
* 4.1.2 Obstructive defects
* 4.1.3 Septal defects
* 4.1.4 Cyanotic defects
* 4.1.5 Defects
* 5 Treatment
* 6 Epidemiology
* 7 Terminology
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Digital clubbing with cyanotic nail beds in an adult with tetralogy of Fallot
Signs and symptoms are related to type and severity of the heart defect. Symptoms frequently present early in life, but it is possible for some CHDs to go undetected throughout life.[13] Some children have no signs while others may exhibit shortness of breath, cyanosis, fainting,[14] heart murmur, under-development of limbs and muscles, poor feeding or growth, or respiratory infections. Congenital heart defects cause abnormal heart structure resulting in production of certain sounds called heart murmur. These can sometimes be detected by auscultation; however, not all heart murmurs are caused by congenital heart defects.
### Associated conditions[edit]
Congenital heart defects are associated with an increased incidence of seven other specific medical conditions, together being called the VACTERL association:
* V — Vertebral anomalies
* A — Anal atresia
* C — Cardiovascular anomalies
* T — Tracheoesophageal fistula
* E — Esophageal atresia
* R — Renal (Kidney) and/or radial anomalies
* L — Limb defects
Ventricular septal defect (VSD), atrial septal defects, and tetralogy of Fallot are the most common congenital heart defects seen in the VACTERL association. Less common defects in the association are truncus arteriosus and transposition of the great arteries.
## Causes[edit]
The cause of congenital heart disease may be genetic, environmental, or a combination of both.[15]
### Genetic[edit]
Genetic mutations, often sporadic, represent the largest known cause of congenital heart defects.[16] They are described in the table below.
Genetic lesions Attributable percent Examples Primary genetic testing method
Aneuploidies 5-8%[15] Survivable autosomal trisomies (chromosomes 13, 18, 21), chromosome X monosomy (Turner syndrome) Karyotyping
Copy number variants 10-12%[17] 22q11.2 deletion/duplication (velocardiofacial/DiGeorge syndrome), 1q21.1 deletion/duplication, 8p23.1 deletion/duplication, 15q11.2 deletion (Burnside-Butler syndrome) Array comparative genomic hybridization (also known as chromosomal microarray analysis)
Inherited protein-coding single nucleotide variant (SNV) or small insertion/deletion (indel) 3-5%[18] Holt-Oram syndrome, Noonan syndrome, Alagille syndrome Gene panel
De novo protein-coding SNV or indel ~10%[19][16] Mutations in genes highly expressed during heart development Whole exome sequencing
#### Molecular pathways[edit]
The genes regulating the complex developmental sequence have only been partly elucidated. Some genes are associated with specific defects. A number of genes have been associated with cardiac manifestations. Mutations of a heart muscle protein, α-myosin heavy chain (MYH6) are associated with atrial septal defects.[20] Several proteins that interact with MYH6 are also associated with cardiac defects. The transcription factor GATA4 forms a complex with the TBX5 which interacts with MYH6. Another factor, the homeobox (developmental) gene, NKX2-5 also interacts with MYH6. Mutations of all these proteins are associated with both atrial and ventricular septal defects; In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. The Wnt signaling co-factors BCL9, BCL9L and PYGO might be part of this molecular pathways, as when their genes are mutated, this causes phenotypes similar to the features present in Holt-Oram syndrome.[21] Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has extensive symptoms including defects of the cardiac outflow tract including tetralogy of Fallot.[22]
Examples of gene products and associated features MYH6 GATA4 NKX2-5 TBX5 TBX1
Locus 14q11.2-q13 8p23.1-p22 5q34 12q24.1 22q11.2
Syndrome Holt-Oram DiGeorge
Atrial septal defects ✔ ✔ ✔ ✔
Ventricular septal defects ✔ ✔ ✔
Electrical conduction abnormalities ✔ ✔
Outflow tract abnormalities ✔
Non-cardiac manifestations[23] Upper limb abnormalities Small or absent thymus
Small or absent parathyroids
Facial abnormalities
The notch signaling pathway, a regulatory mechanism for cell growth and differentiation, plays broad roles in several aspects of cardiac development. Notch elements are involved in determination of the right and left sides of the body plan, so the directional folding of the heart tube can be impacted. Notch signaling is involved early in the formation of the endocardial cushions and continues to be active as the develop into the septa and valves. It is also involved in the development of the ventricular wall and the connection of the outflow tract to the great vessels. Mutations in the gene for one of the notch ligands, Jagged1, are identified in the majority of examined cases of arteriohepatic dysplasia (Alagille syndrome), characterized by defects of the great vessels (pulmonary artery stenosis), heart (tetralogy of Fallot in 13% of cases), liver, eyes, face, and bones. Though less than 1% of all cases, where no defects are found in the Jagged1 gene, defects are found in Notch2 gene. In 10% of cases, no mutation is found in either gene. For another member of the gene family, mutations in the Notch1 gene are associated with bicuspid aortic valve, a valve with two leaflets instead of three. Notch1 is also associated with calcification of the aortic valve, the third most common cause of heart disease in adults.[24][25]
Mutations of a cell regulatory mechanism, the Ras/MAPK pathway are responsible for a variety of syndromes, including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac involvement.[26] While the conditions listed are known genetic causes, there are likely many other genes which are more subtle. It is known that the risk for congenital heart defects is higher when there is a close relative with one.[27]
### Environmental[edit]
Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).[28] Alcohol exposure in the father also appears to increase the risk of congenital heart defects.[29]
Being overweight or obese increases the risk of congenital heart disease.[5] Additionally, as maternal obesity increases, the risk of heart defects also increases.[30] A distinct physiological mechanism has not been identified to explain the link between maternal obesity and CHD, but both prepregnancy folate deficiency and diabetes have been implicated in some studies.[31]
## Mechanism[edit]
Main article: Heart development
There is a complex sequence of events that result in a well formed heart at birth and disruption of any portion may result in a defect.[27] The orderly timing of cell growth, cell migration, and programmed cell death ("apoptosis") has been studied extensively and the genes that control the process are being elucidated.[22] Around day 15 of development, the cells that will become the heart exist in two horseshoe shaped bands of the middle tissue layer (mesoderm),[22] and some cells migrate from a portion of the outer layer (ectoderm), the neural crest, which is the source of a variety of cells found throughout the body. On day 19 of development, a pair of vascular elements, the "endocardial tubes", form. The tubes fuse when cells between then undergo programmed death and cells from the first heart field migrate to the tube, and form a ring of heart cells (myocytes) around it by day 21. On day 22, the heart begins to beat and by day 24, blood is circulating.[32]
At day 22, the circulatory system is bilaterally symmetrical with paired vessels on each side and the heart consisting of a simple tube located in the midline of the body layout. The portions that will become the atria and will be located closest to the head are the most distant from the head. From days 23 through 28, the heart tube folds and twists, with the future ventricles moving left of center (the ultimate location of the heart) and the atria moving towards the head.[32]
On day 28, areas of tissue in the heart tube begin to expand inwards; after about two weeks, these expansions, the membranous "septum primum" and the muscular "endocardial cushions", fuse to form the four chambers of the heart. A failure to fuse properly will result in a defect that may allow blood to leak between chambers. After this happens, cells that have migrated from the neural crest begin to divide the bulbus cordis, the main outflow tract is divided in two by the growth a spiraling septum, becoming the great vessels—the ascending segment of the aorta and the pulmonary trunk. If the separation is incomplete, the result is a "persistent truncus arteriosis". The vessels may be reversed ("transposition of the great vessels"). The two halves of the split tract must migrate into the correct positions over the appropriate ventricles. A failure may result in some blood flowing into the wrong vessel (e.g.overriding aorta). The four-chambered heart and the great vessels have features required for fetal growth. The lungs are unexpanded and cannot accommodate the full circulatory volume. Two structures exist to shunt blood flow away from the lungs. Cells in part of the septum primum die creating a hole while muscle cells, the "septum secundum", grow along the right atrial side the septum primum, except for one region, leaving a gap through which blood can pass from the right artium to the left atrium, the foramen ovale. A small vessel, the ductus arteriosus allows blood from the pulmonary artery to pass to the aorta.[32]
### Changes at birth[edit]
The ductus arteriosus stays open because of circulating factors including prostaglandins. The foramen ovale stays open because of the flow of blood from the right atrium to the left atrium. As the lungs expand, blood flows easily through the lungs and the membranous portion of the foramen ovale (the septum primum) flops over the muscular portion (the septum secundum). If the closure is incomplete, the result is a patent foramen ovale. The two flaps may fuse, but many adults have a foramen ovale that stays closed only because of the pressure difference between the atria.[32]
### Theories[edit]
Rokitansky (1875) explained congenital heart defects as breaks in heart development at various ontogenesis stages.[33] Spitzer (1923) treats them as returns to one of the phylogenesis stages.[34] Krimski (1963), synthesizing two previous points of view, considered congenital heart diseases as a stop of development at the certain stage of ontogenesis, corresponding to this or that stage of the phylogenesis.[35] Hence these theories can explain feminine and neutral types of defects only.
## Diagnosis[edit]
Many congenital heart defects can be diagnosed prenatally by fetal echocardiography. This is a test which can be done during the second trimester of pregnancy, when the woman is about 18–24 weeks pregnant.[36][37] It can be an abdominal ultrasound or transvaginal ultrasound.
If a baby is born with cyanotic heart disease, the diagnosis is usually made shortly after birth due to the blue colour of their skin (called cyanosis).[37]
If a baby is born with a septal defect or an obstruction defect, often their symptoms are only noticeable after several months or sometimes even after many years.[37]
### Classification[edit]
A number of classification systems exist for congenital heart defects. In 2000 the International Congenital Heart Surgery Nomenclature was developed to provide a generic classification system.[38]
#### Hypoplasia[edit]
Main articles: Hypoplastic left heart syndrome and Hypoplastic right heart syndrome
Hypoplasia can affect the heart, typically resulting in the underdevelopment of the right ventricle or the left ventricle. This causes only one side of the heart to be capable of pumping blood to the body and lungs effectively. Hypoplasia of the heart is rare but is the most serious form of CHD. It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions, the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart surgery can be performed, since without these pathways blood cannot circulate to the body (or lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a cyanotic heart defect.[39]
#### Obstructive defects[edit]
Main article: Ventricular outflow tract obstruction
Obstructive defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common defects include pulmonic stenosis, aortic stenosis, and coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or hypertension.[40]
#### Septal defects[edit]
The septum is a wall of tissue which separates the left heart from the right heart. Defects in the interatrial septum or the interventricular septum allow blood to flow from the left side of the heart to the right, reducing the heart's efficiency.[40] Ventricular septal defects are collectively the most common type of CHD,[41] although approximately 30% of adults have a type of atrial septal defect called probe patent foramen ovale.[42]
#### Cyanotic defects[edit]
Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the great vessels, and tricuspid atresia.[40]
#### Defects[edit]
* Aortic stenosis
* Atrial septal defect (ASD)
* Atrioventricular septal defect (AVSD)
* Bicuspid aortic valve
* Cardiomyopathy
* Complete heart block (CHB)
* Dextrocardia
* Double inlet left ventricle (DILV)
* Double outlet right ventricle (DORV)
* Ebstein's anomaly
* Hypoplastic left heart syndrome (HLHS)
* Hypoplastic right heart syndrome (HRHS)
* Mitral stenosis
* Persistent truncus arteriosus
* Pulmonary atresia
* Pulmonary stenosis
* Rhabdomyomas (Tumors of the Heart)
* Transposition of the great vessels
* dextro-Transposition of the great arteries (d-TGA)
* levo-Transposition of the great arteries (l-TGA)
* Tricuspid atresia
* Ventricular septal defect (VSD)
* Wolff-Parkinson-White syndrome (WPW)
Some conditions affect the great vessels or other vessels in close proximity to the heart, but not the heart itself, but are often classified as congenital heart defects.
* Coarctation of the aorta (CoA)
* Double aortic arch, aberrant subclavian artery, and other malformations of the great arteries
* Interrupted aortic arch (IAA)
* Patent ductus arteriosus (PDA)
* Scimitar syndrome (SS)
* Partial anomalous pulmonary venous connection (PAPVC)
* Total anomalous pulmonary venous connection (TAPVC)
Some constellations of multiple defects are commonly found together.
* Tetralogy of Fallot (ToF)
* Pentalogy of Cantrell
* Shone's syndrome/ Shone's complex / Shone's anomaly
## Treatment[edit]
CHD may require surgery and medications. Medications include diuretics, which aid the body in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed.
Interventional cardiology now offers patients minimally invasive alternatives to surgery for some patients. The Melody Transcatheter Pulmonary Valve (TPV), approved in Europe in 2006 and in the U.S. in 2010 under a Humanitarian Device Exemption (HDE), is designed to treat congenital heart disease patients with a dysfunctional conduit in their right ventricular outflow tract (RVOT). The RVOT is the connection between the heart and lungs; once blood reaches the lungs, it is enriched with oxygen before being pumped to the rest of the body. Transcatheter pulmonary valve technology provides a less-invasive means to extend the life of a failed RVOT conduit and is designed to allow physicians to deliver a replacement pulmonary valve via a catheter through the patient's blood vessels.
Many people require lifelong specialized cardiac care, first with a pediatric cardiologist and later with an adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.[43]
## Epidemiology[edit]
Congenital heart anomalies deaths per million persons in 2012
0-8
9-12
13-23
24-31
32-39
40-47
48-50
51-56
57-63
64-124
Heart defects are among the most common birth defect, occurring in 1% of live births (2-3% including bicuspid aortic valve).[11] In 2013, 34.3 million people had CHD. In 2010, they resulted in 223,000 deaths, down from 278,000 deaths in 1990.[44]
For congenital heart defects that arise without a family history (de novo), the recurrence risk in offspring is 3-5%.[45] This risk is higher in left ventricular outflow tract obstructions, heterotaxy, and atrioventricular septal defects.
## Terminology[edit]
Congenital heart defects are known by a number of names including congenital heart anomaly, congenital heart disease, heart defects, and congenital cardiovascular malformations.[46]
## See also[edit]
* Congenital Heart Surgeons' Society
* Congenital heart block
## References[edit]
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29. ^ Zhang S, Wang L, Yang T, Chen L, Zhao L, Wang T, et al. (March 2020). "Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis". European Journal of Preventive Cardiology. 27 (4): 410–421. doi:10.1177/2047487319874530. PMID 31578093. S2CID 203653146.
30. ^ Mills JL, Troendle J, Conley MR, Carter T, Druschel CM (June 2010). "Maternal obesity and congenital heart defects: a population-based study". The American Journal of Clinical Nutrition. 91 (6): 1543–9. doi:10.3945/ajcn.2009.28865. PMC 2869507. PMID 20375192.
31. ^ Rasmussen SA, Galuska DA (June 2010). "Prepregnancy obesity and birth defects: what's next?". The American Journal of Clinical Nutrition. 91 (6): 1539–40. doi:10.3945/ajcn.2010.29666. PMID 20427732.
32. ^ a b c d Larsen WJ (1993). "7. Development of the Heart". Human Embryology. Churchill Livingstone. ISBN 978-0-443-08724-0.
33. ^ Rokitarisky KE (1875). Die defecte der Scheidewande des Herzens (in German). Wien.
34. ^ Spitzer A (May 1923). "Uber den Bauplan des normalen und missbildeten Herzens: Versuch einer phylogenetischen Theorie". Virchows Arch Pathol Anat. (in German). 243: 81–272. doi:10.1007/BF01961720. S2CID 29190020.
35. ^ Crymskiy LD (1963). "Patologicheskaya anatomiya vrozhdennykh porokov serdtsa i oslozhneniy posle ikh khirurgicheskogo lecheniya" [Pathological anatomy of congenital heart defects and complications after their surgical treatment.]. Meditsina (in Russian).
36. ^ MedlinePlus Encyclopedia: Fetal echocardiography
37. ^ a b c "Archived copy". Archived from the original on 2012-02-10. Retrieved 2012-03-14.CS1 maint: archived copy as title (link)
38. ^ Shanley TP, Wheeler DS, Wong HR (2007). Pediatric critical care medicine: basic science and clinical evidence. Berlin: Springer. p. 666. ISBN 978-1-84628-463-2. Archived from the original on 2017-03-18.
39. ^ "Hypoplastic Left Heart Syndrome". American Heart. Archived from the original on 11 June 2010. Retrieved 30 July 2010.
40. ^ a b c "Congenital Cardiovascular Defects". American Heart. Archived from the original on 20 June 2010. Retrieved 30 July 2010.
41. ^ "Ventricular Septal Defect". eMedicine Health. Archived from the original on 18 July 2010. Retrieved 30 July 2010.
42. ^ "Circulatory Changes at Birth". University of California at Berkeley. Archived from the original on 18 July 2010. Retrieved 30 July 2010.
43. ^ "Adult Congenital Heart Association". Adult Congenital Heart Association. Archived from the original on 20 June 2010. Retrieved 30 July 2010.
44. ^ Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, et al. (December 2012). "Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2095–128. doi:10.1016/S0140-6736(12)61728-0. hdl:10536/DRO/DU:30050819. PMID 23245604. S2CID 1541253.
45. ^ Canobbio MM, Warnes CA, Aboulhosn J, Connolly HM, Khanna A, Koos BJ, et al. (February 2017). "Management of Pregnancy in Patients With Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association". Circulation. 135 (8): e50–e87. doi:10.1161/CIR.0000000000000458. PMID 28082385.
46. ^ "Other Names for Congenital Heart Defects". July 1, 2011. Archived from the original on 27 July 2015. Retrieved 10 August 2015.
## External links[edit]
Classification
D
* ICD-10: Q20-Q26
* ICD-9-CM: 745-747
* MeSH: D006330
* DiseasesDB: 17017
External resources
* MedlinePlus: 001114
* Congenital heart defect at Curlie
* Congenital heart disease information for parents.
* v
* t
* e
Congenital heart defects
Heart septal defect
Aortopulmonary septal defect
* Double outlet right ventricle
* Taussig–Bing syndrome
* Transposition of the great vessels
* dextro
* levo
* Persistent truncus arteriosus
* Aortopulmonary window
Atrial septal defect
* Sinus venosus atrial septal defect
* Lutembacher's syndrome
Ventricular septal defect
* Tetralogy of Fallot
Atrioventricular septal defect
* Ostium primum
Consequences
* Cardiac shunt
* Cyanotic heart disease
* Eisenmenger syndrome
Valvular heart disease
Right
* pulmonary valves
* stenosis
* insufficiency
* absence
* tricuspid valves
* stenosis
* atresia
* Ebstein's anomaly
Left
* aortic valves
* stenosis
* insufficiency
* bicuspid
* mitral valves
* stenosis
* regurgitation
Other
* Underdeveloped heart chambers
* right
* left
* Uhl anomaly
* Dextrocardia
* Levocardia
* Cor triatriatum
* Crisscross heart
* Brugada syndrome
* Coronary artery anomaly
* Anomalous aortic origin of a coronary artery
* Ventricular inversion
*[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 heart defect | c0018798 | 29,537 | wikipedia | https://en.wikipedia.org/wiki/Congenital_heart_defect | 2021-01-18T18:29:11 | {"mesh": ["D006330"], "umls": ["C0152021", "C0018798"], "orphanet": ["88991"], "wikidata": ["Q939364"]} |
A number sign (#) is used with this entry because X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) is caused by hemizygous mutation in the gene encoding magnesium transporter-1 (MAGT1; 300715) on chromosome Xq13.
Hemizygous mutation in the MAGT1 gene can also cause congenital disorder of glycosylation type Icc (CDG1CC; 301031). Patients with XMEN are usually not assessed for abnormal glycosylation of serum transferrin, but at least 1 patient with a primary diagnosis of XMEN was demonstrated to have the laboratory features of CDG1CC (Blommaert et al., 2019).
Description
XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic EBV infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).
Clinical Features
Li et al. (2011) examined 2 brothers, aged 7 and 3 years, with recurrent infections, including chronic Epstein-Barr virus infections, and low CD4 T-cell counts. Both patients had an inverted CD4:CD8 (see 186910) ratio and reduced CD31 (PECAM1; 173445)-positive cells in the naive CD4-positive T-cell population, suggesting diminished thymic output. However, both patients exhibited pronounced defects in T-cell receptor (TCR; see 186880)-mediated activation events and impaired early TCR signaling events, such as NF-kappa-B (see 164011) and NFAT (see 600490) nuclear translocation. In contrast, the patients' T cells were fully activated by downstream inducers. The patients showed no defects in B-cell receptor or Toll-like receptor (see 603030) stimulation of B cells. Li et al. (2011) detected skewed lyonization, the process of X chromosome inactivation by methylation, in the boys' mother, with only the X chromosome inherited by her 2 sons inactivated in her T cells. Li et al. (2011) identified an additional patient with a similar phenotype who had died 5 years earlier, at the age of 45 years, from chronic Epstein-Barr virus-associated lymphoma. Like the affected boys, he exhibited a similar T-cell defect in NF-kappa-B and NFAT nuclear translocation in response to TCR stimulation, but not in response to downstream T-cell activation inducers. Li et al. (2011) termed the immunodeficiency in these patients 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia,' or XMEN. Li et al. (2014) noted that the 45-year-old patient reported by Li et al. (2011) died from complications after hematopoietic stem cell transplantation.
Li et al. (2014) reported 4 additional unrelated patients, ranging in age from 4 to 23 years, with XMEN. All patients had chronic EBV infection with persistent EBV detectable in the blood. Other features included splenomegaly and variable recurrent infections, mainly of the respiratory tract. Three patients developed EBV-associated B-cell lymphoproliferative disorders, including the 23-year-old patient who died after hematopoietic stem cell transplantation. One patient had an autoimmune cytopenia. None had failure to thrive or developmental problems. Laboratory studies showed decreased CD4+ T cells, suggesting reduced thymic output, and moderately high B cells, likely due to chronic EBV infection. Some patients had variable deficiencies in immunoglobulin levels and vaccine responses, which were thought to be attributable to a deficiency in T follicular helper cells or an underlying B-cell dysfunction. T-cell proliferative responses were inconsistently defective.
Dhalla et al. (2015) reported a 58-year-old man with XMEN who was followed for over 20 years. He first presented at age 36 with a long history of sinopulmonary infections since early childhood. Laboratory studies showed a reversed CD4/CD8 T-cell ratio, poor response to pneumococcal polysaccharide vaccine, and mild intermittent thrombocytopenia. At age 52, he developed worsening infections, lymphadenopathy, and hepatosplenomegaly; he was found to have EBV viremia and an EBV-driven lymphoproliferative disorder. He was treated with chemotherapy, but the disease recurred at age 57. At that time, he had intermittent thrombocytopenia, neutropenia, CD4 and B-cell lymphopenia, increased EBV viral load, and diffuse B-cell lymphoma. He also showed neurologic decompensation associated with multifocal white matter changes on brain imaging and JC virus in the CSF, consistent with progressive multifocal leukoencephalopathy; this ultimately resulted in death. Patient cells showed absent proliferative response specifically to EBV. Family history revealed a nephew with a similar phenotype who developed an EBV-driven lymphoproliferative disorder at age 13.
Patiroglu et al. (2015) reported a 17-year-old boy with a complex presentation of XMEN. He had a history of recurrent respiratory infections since childhood and developed Hodgkin lymphoma at age 15. After treatment, he developed Guillain-Barre syndrome and was later diagnosed with immune thrombocytopenia, autoimmune hepatitis with elevated liver function tests, and autoimmune anemia. Laboratory studies showed chronic CMV infection, and later EBV infection. Immunologic workup showed selective CD4 lymphopenia, an inverted CD4/CD8 ratio, and low levels of class-switched B cells.
Blommaert et al. (2019) reported a 17-year-old boy (patient 3) with XMEN. He had recurrent infections, chronic active EBV infection, and decreased CD4+ T cells, but a normal CD4:CD8 ratio. He also had a type 1 pattern of abnormal glycosylation of serum transferrin, consistent with CDG1CC, but he did not have other features of that disorder, including developmental delay. Blommaert et al. (2019) noted that patients with XMEN are usually not assessed for the laboratory abnormalities of CDG.
Clinical Management
MAGT1 is a critical regulator of basal intracellular free magnesium (Mg(2+)) concentrations. Individuals with genetic deficiencies in MAGT1 have high levels of Epstein-Barr virus (EBV) and a predisposition to lymphoma. Chaigne-Delalande et al. (2013) showed that decreased intracellular free Mg(2+) causes defective expression of the natural killer (NK)-activating receptor NKG2D (611817) in NK and CD8+ T cells and impairs cytolytic responses against EBV. Notably, magnesium supplementation in MAGT1-deficient patients restored intracellular free Mg(2+) and NKG2D while concurrently reducing EBV-infected cells in vivo, demonstrating a link between NKG2D cytolytic activity and EBV antiviral immunity in humans. Moreover, the authors concluded that their findings revealed a specific molecular function of free basal intracellular Mg(2+) in eukaryotic cells.
Inheritance
The transmission pattern of XMEN in the families reported by Li et al. (2014) was consistent with X-linked recessive inheritance.
Mapping
XMEN results from mutations in the MAGT1 gene, which Goytain and Quamme (2005) mapped to chromosome Xq13.1-q13.2.
Molecular Genetics
In the 2 brothers with XMEN that they reported, Li et al. (2011) identified a 10-bp deletion in the MAGT1 gene (300715.0002) that removed a splice donor site located in the 3-prime exon-intron junction of exon 7. The boys' mutant MAGT1 splice variant was missing exons 7 and 8, resulting in a premature stop codon after val286. In the unrelated male patient with XMEN who had died at age 45 years, Li et al. (2011) identified an arg137-to-ter (R137X; 300715.0003) mutation in MAGT1. Studies with XMEN patient cells showed that MAGT1 deficiency abrogated Mg(2+) influx, leading to impaired responses to antigen receptor engagement, including defective activation of PLCG1 (172420) and a markedly impaired Ca(2+) influx in T lymphocytes, but not B lymphocytes.
In 4 unrelated males with XMEN, Li et al. (2014) identified hemizygous loss-of-function mutations in the MAGT1 gene (see, e.g., 300715.0003-300715.0005). The patients' mothers, who appeared to be asymptomatic, had preferential X chromosome inactivation of the chromosome harboring the mutant allele. Functional studies of the variants were not performed, but combined with the findings in their previous reports (Li et al., 2011; Chaigne-Delalande et al., 2013), Li et al. (2014) proposed a pathogenic mechanism. Loss of MAGT1 decreases the flux of free intracellular Mg(2+) flux, which is required to coordinate T-cell signaling during T-cell activation, and also leads to loss of NKG2D expression, which is involved in antiviral and antitumor cytotoxicity of NK and cytotoxic T lymphocytes, particularly affecting the control of EBV infection.
In a man and his nephew with XMEN, Dhalla et al. (2015) identified a hemizygous nonsense mutation in the MAGT1 gene (R238X; 300715.0006). Analysis of the nephew's blood showed a 5- to 10-fold reduction in MAGT1 mRNA, decreased NKG2D expression on CD8+ T cells, and decreased basal intracellular free magnesium compared to controls.
In a 17-year-old boy with XMEN, Patiroglu et al. (2015) identified a hemizygous frameshift mutation in the MAGT1 gene (300715.0007). The mutation, which was found by next-generation sequencing and confirmed by Sanger sequencing, was inherited from the unaffected mother. NKG2D expression on NK and CD8+ T cells was decreased, although cytotoxic degranulation of both cell types was normal.
In a 17-year-old boy (patient 3) with XMEN, Blommaert et al. (2019) identified a hemizygous nonsense mutation in the MAGT1 gene (L313X; 300715.0010). Patient-derived fibroblasts showed only 6% residual MAGT1 transcript, whereas a lymphocyte cell line from the patient showed 50% residual MAGT1 transcript levels. There was almost complete absence of the protein, consistent with a loss of function. The patient also had abnormal serum transferrin glycosylation, consistent with a defect in glycosylation (see CDG1CC, 301031). Patient fibroblasts and lymphocytes showed an N-glycosylation defect, with hypoglycosylation of STT3B (608605)-dependent substrates, including SHBG (182205), CTSC (602365), and GLUT1 (138140). Expression of the mutation into MAGT1-null HEK293 cells was unable to rescue the glycosylation defect. The patient had no intellectual disability or other features of CDG1CC.
*[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
| IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA | c3275445 | 29,538 | omim | https://www.omim.org/entry/300853 | 2019-09-22T16:19:25 | {"doid": ["0080319"], "omim": ["300853"], "orphanet": ["317476"], "synonyms": ["CID due to MAGT1 deficiency", "Combined immunodeficiency due to MAGT1 deficiency", "XMEN"]} |
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
*[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 2F | c1847823 | 29,539 | gard | https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f | 2021-01-18T18:01:31 | {"mesh": ["C535413"], "omim": ["606595"], "umls": ["C1847823"], "orphanet": ["99940"], "synonyms": ["CMT 2F", "Charcot-Marie-Tooth disease, axonal, Type 2F", "Charcot-Marie-Tooth disease, neuronal, Type 2F", "Charcot Marie Tooth disease type 2F", "Charcot-Marie-Tooth neuropathy, type 2F"]} |
The severe combined immunodeficiency (SCID) is a severe immunodeficiency genetic disorder that is characterized by the complete inability of the adaptive immune system to mount, coordinate, and sustain an appropriate immune response, usually due to absent or atypical T and B lymphocytes. In humans, SCID is colloquially known as "bubble boy" disease, as victims may require complete clinical isolation to prevent lethal infection from environmental microbes.
Several forms of SCID occur in animal species. Not all forms of SCID have the same cause; different genes and modes of inheritance have been implicated in different species.
## Contents
* 1 Horses
* 2 Dogs
* 3 Mice
* 4 See also
* 5 References
## Horses[edit]
Equine SCID is an autosomal recessive disorder that affects the Arabian horse. Similar to the "bubble boy" condition in humans, an affected foal is born with no immune system, and thus generally dies of an opportunistic infection, usually within the first four to six months of life. There is a DNA test that can detect healthy horses who are carriers of the gene causing SCID, thus testing and careful, planned matings can now eliminate the possibility of an affected foal ever being born.[1][2][3]
SCID is one of six genetic diseases known to affect horses of Arabian bloodlines, and the only one of the six for which there is a DNA test to determine if a given horse is a carrier of the allele.[4] There are other genetic diseases that affect other horse breeds,[5] and horses of part-Arabian bloodlines can be carriers of SCID.
Unlike SCID in humans, which can be treated, for horses, to date, the condition remains a fatal disease.[6] When a horse is heterozygous for the gene, it is a carrier, but perfectly healthy and has no symptoms at all. If two carriers are bred together, however, classic Mendelian genetics indicate that there is a 50% chance of any given mating producing a foal that is a carrier heterozygous for the gene, and a 25% risk of producing a foal affected by the disease. If a horse is found to carry the gene, the breeder can choose to geld a male or spay a female horse so that they cannot reproduce, or they can choose to breed the known carrier only to horses that have been tested and found to be "clear" of the gene. In either case, careful breeding practices can avoid ever producing an SCID-affected foal.
## Dogs[edit]
There are two known types of SCID in dogs, an X chromosome-linked form that is very similar to X-SCID in humans,[7] and an autosomal recessive form that is similar to the disease in Arabian horses and SCID mice.[8]
X-SCID in dogs is seen in Basset Hounds and Cardigan Welsh Corgis. Because it is an X-linked disease, females are carriers only and disease is seen in males exclusively. It is caused by a mutation in the gene for the cytokine receptor common gamma chain.[7] Recurring infections are seen and affected animals usually do not live beyond three to four months. Characteristics include a poorly developed thymus gland, decreased T-lymphocytes and IgG, absent IgA, and normal quantities of IgM.[9] A common cause of death is canine distemper, which develops following vaccination with a modified live distemper virus vaccine.[10] Due to its similarity to X-SCID in humans, breeding colonies of affected dogs have been created in order to study the disease and test treatments, particularly bone marrow transplantation and gene therapy.[11]
The autosomal recessive form of SCID has been identified in one line of Jack Russell Terriers. It is caused by a loss of DNA protein kinase, which leads to faulty V(D)J recombination. V(D)J recombination is necessary for recognition of a diverse range of antigens from bacteria, viruses, and parasites. It is characterized by nonfunctional T and B-lymphocytes and a complete lack of gammaglobulins.[10] Death is secondary to infection. Differences between this disease and the form found in Bassets and Corgis include a complete lack of IgM and the presence of the disease in females.
## Mice[edit]
See also: Humanized mouse
A close-up of white Severe combined immunodeficiency (SCID) mouse held by a human hand.
SCID mice are routinely used as model organisms for research into the basic biology of the immune system, cell transplantation strategies, and the effects of disease on mammalian systems. They have been extensively used as hosts for normal and malignant tissue transplants. In addition, they are useful for testing the safety of new vaccines or therapeutic agents in immunocompromised individuals.
The condition is due to a rare recessive mutation on Chromosome 16 responsible for deficient activity of an enzyme involved in DNA repair (Prkdc or "protein kinase, DNA activated, catalytic polypeptide"). Because V(D)J recombination does not occur, the humoral and cellular immune systems fail to mature. As a result, SCID mice have an impaired ability to make T or B lymphocytes, may not activate some components of the complement system, and cannot efficiently fight infections, nor reject tumors and transplants.
By crossing SCID mice with mice carrying mutations in related genes, such as interleukin-2Rgamma,[12] more efficient immunocompromised strains can be created to further aid research. The degree to which the various components of the immune system are compromised varies according to what other mutations the mice carry along with the SCID mutation.
## See also[edit]
* Severe combined immunodeficiency, for a detailed overview of the condition in humans and an in-depth scientific explanation of the disease
* Foal immunodeficiency syndrome
* Animal testing on rodents
## References[edit]
1. ^ "SCID in Arabian Horses"
2. ^ Parkinson, Mary Jane. "SCID: An Update." from Arabian Horse World, March, 1998
3. ^ "The New DNA Test for Severe Combined Immunodeficiency (SCID) in Arabian Horses"
4. ^ AHA Equine Stress, Research and Education Committee. "Caution:Knowledge." Modern Arabian Horse, August/September 2007, pp. 100-105. Online version at "Archived copy". Archived from the original on 2007-12-25. Retrieved 2007-12-10.CS1 maint: archived copy as title (link)
5. ^ Other breeds known to have some individuals with genetic conditions include the American Quarter Horse, American Paint Horse, American Saddlebred, Appaloosa, Miniature horse, and Belgian.
6. ^ FOAL.org, an organization promoting research into genetic lethal diseases in horse
7. ^ a b Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ (1994). "IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease". Genomics. 23 (1): 69–74. doi:10.1006/geno.1994.1460. PMID 7829104.
8. ^ Bell TG, Butler KL, Sill HB, Stickle JE, Ramos-Vara JA, Dark MJ (2002). "Autosomal recessive severe combined immunodeficiency of Jack Russell terriers". J. Vet. Diagn. Invest. 14 (3): 194–204. doi:10.1177/104063870201400302. PMID 12033674.
9. ^ Perryman LE (2004). "Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs". Vet. Pathol. 41 (2): 95–100. doi:10.1354/vp.41-2-95. PMID 15017021.
10. ^ a b Ettinger, Stephen J.; Feldman, Edward C. (2005). Textbook of Veterinary Internal Medicine (6th ed.). W.B. Saunders Company. ISBN 1-4160-0110-7.
11. ^ Ting-De Ravin SS, Kennedy DR, Naumann N, et al. (2006). "Correction of canine X-linked severe combined immunodeficiency by in vivo retroviral gene therapy". Blood. 107 (8): 3091–7. doi:10.1182/blood-2005-10-4057. PMC 1895747. PMID 16384923.
12. ^ Ito M, Hiramatsu H, Kobayashi K, et al. (November 2002). "NOD/SCID/gamma(c)(null) mouse: an excellent recipient mouse model for engraftment of human cells". Blood. 100 (9): 3175–82. doi:10.1182/blood-2001-12-0207. PMID 12384415.
*[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
| Severe combined immunodeficiency (non-human) | None | 29,540 | wikipedia | https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency_(non-human) | 2021-01-18T19:01:51 | {"wikidata": ["Q7457844"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Hand deformity" – news · newspapers · books · scholar · JSTOR (October 2020)
Hand deformity
SpecialtyPlastic surgery
A hand deformity is a disorder of the hand that can be congenital or acquired.An example is Madelung's deformity.
## References[edit]
## External links[edit]
Classification
D
* ICD-9-CM: 736, 755
* MeSH: D006226
* v
* t
* e
Acquired musculoskeletal deformities
Upper limb
shoulder
* Winged scapula
* Adhesive capsulitis
* Rotator cuff tear
* Subacromial bursitis
elbow
* Cubitus valgus
* Cubitus varus
hand deformity
* Wrist drop
* Boutonniere deformity
* Swan neck deformity
* Mallet finger
Lower limb
hip
* Protrusio acetabuli
* Coxa valga
* Coxa vara
leg
* Unequal leg length
patella
* Luxating patella
* Chondromalacia patellae
* Patella baja
* Patella alta
foot deformity
* Bunion/hallux valgus
* Hallux varus
* Hallux rigidus
* Hammer toe
* Foot drop
* Flat feet
* Club foot
knee
* Genu recurvatum
Head
* Cauliflower ear
General terms
* Valgus deformity/Varus deformity
* Joint stiffness
* Ligamentous laxity
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
This article about Orthopedic surgery 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
| Hand deformity | c0018564 | 29,541 | wikipedia | https://en.wikipedia.org/wiki/Hand_deformity | 2021-01-18T18:44:29 | {"mesh": ["D006226"], "umls": ["C0018564"], "icd-9": ["755", "736"], "wikidata": ["Q5647146"]} |
Eyelid disease
Blepharochalasis
SpecialtyDermatology
Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. It typically affects only the upper eyelids, and may be unilateral as well as bilateral.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Complications[edit]
Complications of blepharochalasis may include conjunctival hyperemia (excessive blood flow through the moist tissues of the orbit), chemosis, entropion, ectropion, and ptosis.
## Causes[edit]
Blepharochalasis is idiopathic in most cases, i.e., the cause is unknown. Systemic conditions linked to blepharochalasis are renal agenesis, vertebral abnormalities, and congenital heart disease.
## Pathophysiology[edit]
Blepharochalasis results from recurrent bouts of painless eyelid swelling, each lasting for several days. This is thought to be a form of localized angioedema, or rapid accumulation of fluid in the tissues. Recurrent episodes lead to thin and atrophic skin. Damage to the levator palpebrae superioris muscle causes ptosis, or drooping of the eyelid, when the muscle can no longer hold the eyelid up.
## Diagnosis[edit]
### Differential diagnosis[edit]
Dermatochalasis is sometimes confused with blepharochalasis, but these are two different conditions.
## Treatment[edit]
The following procedures have been described for blepharochalasis:
* External levator aponeurosis tuck
* Blepharoplasty
* Lateral canthoplasty
* Dermis fat grafts
These are used to correct atrophic blepharochalasis after the syndrome has run its course.
## Epidemiology[edit]
It is encountered more commonly in younger rather than older individuals.
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: H02.3
* ICD-9-CM: 374.34
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[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
| Blepharochalasis | c0005742 | 29,542 | wikipedia | https://en.wikipedia.org/wiki/Blepharochalasis | 2021-01-18T19:05:43 | {"umls": ["C0005742"], "wikidata": ["Q3640920"]} |
A number sign (#) is used with this entry because Nance-Horan syndrome (NHS) is caused by mutation in the NHS gene (300457) on chromosome Xp22.
Description
Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).
Clinical Features
Affected males have dense nuclear cataracts and frequently microcornea. Carrier females may show posterior Y-sutural cataracts with small corneas and only slightly reduced vision. Horan and Billson (1974) described a family in which 2 brothers had sutural cataracts like those known to be X-linked (302200) in association with Hutchinsonian incisors (but no evidence of syphilis). Two sisters and the mother, despite normal vision, showed punctate opacities surrounding the posterior Y-suture and dental changes similar to those in the brothers. The mother's maternal uncle had surgery for cataract at age 3 years. Nance et al. (1974) described an extensively affected family in which males and carrier females with cataract and heterozygote lens changes, respectively, had dental anomalies, whereas persons without lens changes did not. Affected males had microcornea. Two had had mesiodens (a supernumerary centrally situated upper incisor) removed in childhood and others had had other supernumerary teeth removed. Screwdriver incisors were found in heterozygotes. Affected males had prominent, anteverted pinnae and short metacarpals. Another family with the Nance-Horan syndrome was reported by van Dorp and Delleman (1979). They emphasized the association of large, anteverted pinnae and of dental anomalies (irregular diastema, cone-shaped incisors, and in some cases supernumerary teeth). Bergen (1997) concluded that the family reported by Waardenburg et al. (1961) was the same as the family reported by van Dorp and Delleman (1979).
Bixler et al. (1984) reported 2 additional kindreds. In one of these, the heterozygous female was blind in one eye and reportedly had had supernumerary central incisors removed. Whether the syndrome is the same as that (302200) in the families reported by Walsh and Wegman (1937) is not completely certain. Maumenee (1988) suggested that they are the same disorder. Walpole et al. (1990) pictured affected mother and son and pointed out large, prominent ears and nose and high nasal bridge. They suggested that intellectual handicap or developmental delay is a feature in over a fifth of affected males.
Li et al. (2015) reported a Chinese family in which 10 members (4 males and 6 females) over 3 generations had Nance-Horan syndrome. The ocular manifestation in the 4 males consisted of bilateral and severe early-onset cataract with microcornea. Obligate heterozygous females had a variable phenotype from total opacity to clear lenses, with bilateral lens opacity observed in most and microcornea in 2. Severe visual impairment led to nystagmus and strabismus in most of the affected males and female carriers. All affected males had similar facial features, including large anteverted pinnae and widely spaced teeth with notched or serrated incised edges. In obligate carrier females, dental abnormalities were generally less severe.
Mapping
Stambolian et al. (1989) found a suggestion of linkage of NHS to 2 DNA markers (DXS43 and DXS84) located on Xp. Further linkage studies may help resolve the question of the relationship of these 2 forms of X-linked cataract. Both appear to be on Xp. Stambolian et al. (1989, 1990) demonstrated linkage with several DNA markers in the region Xp22.3-p21.1. A lod score of 7.07 was obtained for linkage with DXS41 at theta = 0.0. They suggested that NHS in the human may be homologous to the Xcat locus in the mouse. The Xcat mutation causes total lens opacity both in hemizygous males and in homozygous females (Favor and Pretsch, 1987, 1990). The fact that the mouse locus is closely linked to the hypophosphatemia locus as well as the fact that both human hypophosphatemia and NHS are tightly linked to DXS41 suggests a conserved block of syntenic genes in this region of the X chromosome. Using backcross progeny carrying the Xcat mutation obtained from an interspecific cross, Stambolian et al. (1994) subjected genomic DNA to Southern and PCR analyses to identify RFLPs and simple sequence length polymorphisms, respectively. Thereby, they refined the location of the Xcat gene to a 2-cM region, eliminated several genes from consideration as the Xcat mutation, and suggested candidate genes.
Zhu et al. (1990) found a lod score of 1.662 at theta = 0.16 for linkage with a probe from locus DXS85 on Xp22.3-p22.2. See also Lewis et al. (1990). In a Dutch family previously studied by van Dorp and Delleman (1979), Bergen et al. (1994) found close linkage to 3 Xp markers, DXS207, DXS43, and DXS365. Multipoint linkage analysis suggested that the gene lies near DMD (300377) proximally and STS (300747) distally.
Toutain et al. (2002) performed linkage analysis in 11 multiplex NHS families, which showed that the disease-causing gene mapped to the Xp22 region in all families tested, and a combined maximum 2-point lod score of 9.94 at theta = 0.00 was obtained at the RS1 locus (312700). A recombination with the marker DXS1195 was observed in 2 independent families, refining the localization of the NHS gene on the telomeric side. These results combined with previous data reduced the NHS gene interval to around 1 Mb between DXS1195 on the telomeric side and DXS999 on the centromeric side in the Xp22.13 region. Direct sequencing or SSCP analysis of the coding exons of 5 genes (SCML1, 300227; SCML2, 300208; STK9, 300203; RS1, 312700; and PPEF1, 300109), located in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, making it highly unlikely that these genes are implicated in NHS.
Molecular Genetics
Studying the extended Australian family in which Horan and Billson (1974) first identified Nance-Horan syndrome, Burdon et al. (2003) confirmed localization of the disease locus to a 1.3-Mb interval on Xp22.13. In that family and 4 others with NHS, they identified protein-truncating mutations in a novel gene, which they called NHS (see 300457.0001-300457.0004).
Ramprasad et al. (2005) reported a 4-generation family containing 8 affected males who inherited X-linked developmental lens opacity and microcornea. Some members of the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. By fine mapping, the authors localized the disease gene to Xp22.13. Mutational screening revealed a truncating mutation in the NHS gene (Q39X; 300457.0005) in all affected males and carrier females but not in unaffected family members or controls. The authors concluded that families with X-linked cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome. RT-PCR analysis did not suggest nonsense-mediated mRNA decay as the possible mechanism for clinical heterogeneity.
In affected members of the family reported by van Dorp and Delleman (1979), Florijn et al. (2006) identified a mutation in the NHS gene (300457.0006). Florijn et al. (2006) also identified mutations in the NHS gene in 3 additional NHS families.
In affected members of a Chinese family with Nance-Horan syndrome, Li et al. (2015) identified a frameshift mutation in the NHS gene (300457.0009) that segregated with the disorder in the family and was not found in 100 matched controls.
Cytogenetics
Van Esch et al. (2007) reported a 10-month old male infant with severe encephalopathy, congenital cataracts, and tetralogy of Fallot who had a hemizygous de novo 2.8-Mb microdeletion at chromosome Xp22.2-Xp22.13, including the CDKL5 (300203) and NHS genes. He had microphthalmia, refractory myoclonic seizures, and hypotonia. The clinical features were consistent with both Nance-Horan syndrome and early infantile epileptic encephalopathy-2 (EIEE2; 300672), which is caused by mutation in the CDKL5 gene.
Liao et al. (2011) reported 2 Taiwanese brothers with a clinical diagnosis of Nance-Horan syndrome associated with a 915-kb deletion at chromosome Xp22.13 inherited from their mother. The boys had congenital cataracts, delayed psychomotor development, mental retardation, long face, prominent nose, screwdriver-shaped incisors, and widely spaced teeth. Both also had pedis planus and hallux valgus. One had incomplete cryptorchidism, and the other had autistic features. The mother had normal intelligence, localized posterior subcapsular cataract in the right eye, and mild nuclear sclerosis in the left eye. The deleted region spanned from 16,853,030 to 17,768,574 and included the REPS2 (300317), NHS, SCML1 (300227), and RAI2 (300217) genes. The findings indicated that genomic rearrangements involving the NHS gene can cause Nance-Horan syndrome, and suggested that deletion of other genes in this region contributed to the severe phenotype and additional clinical features observed in these patients.
INHERITANCE \- X-linked dominant HEAD & NECK Face \- Long, narrow face Ears \- Large anteverted pinnae (90% males, 40% females) Eyes \- Bilateral congenital cataracts (males) \- Vision loss, profound (males) \- Microcornea \- Nystagmus \- Microphthalmia \- Posterior Y-sutural cataracts (females) \- Normal vision (females) \- Glaucoma (50% of males) Nose \- Prominent nose \- Prominent nasal bridge Teeth \- Screwdriver blade-shaped incisors (males and females) \- Supernumerary maxillary incisors (mesiodens) (65% males) \- Tapered premolar and molar cusps \- Diastema (males and females) SKELETAL Hands \- Broad fingers \- Short fingers NEUROLOGIC Central Nervous System \- Mild-moderate mental retardation (80% affected males) Behavioral Psychiatric Manifestations \- Behavioral disturbances \- Autism MOLECULAR BASIS \- Caused by mutations in the NHS gene (NHS, 300457.0001 ) ▲ 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
| NANCE-HORAN SYNDROME | c0796085 | 29,543 | omim | https://www.omim.org/entry/302350 | 2019-09-22T16:18:40 | {"doid": ["0060599"], "mesh": ["C538336"], "omim": ["302350"], "orphanet": ["627"], "synonyms": ["Alternative titles", "CATARACT-DENTAL SYNDROME", "CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH", "MESIODENS-CATARACT SYNDROME"], "genereviews": ["NBK1378"]} |
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently 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
| Pseudounicornuate uterus | None | 29,544 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180079 | 2021-01-23T17:58:30 | {"icd-10": ["Q51.4"], "synonyms": ["Incomplete unilateral Müllerian aplasia", "Incomplete unilateral aplasia of the Müllerian ducts", "Unicornuate uterus with rudimentary horn"]} |
Ganser Syndrome
SpecialtyPsychiatry
Ganser syndrome is a rare dissociative disorder characterized by nonsensical or wrong answers to questions and other dissociative symptoms such as fugue, amnesia or conversion disorder, often with visual pseudohallucinations and a decreased state of consciousness.[1] The syndrome has also been called nonsense syndrome, balderdash syndrome, syndrome of approximate answers, hysterical pseudodementia or prison psychosis. The term prison psychosis is sometimes used because the syndrome occurs most frequently in prison inmates, where it may be seen as an attempt to gain leniency from prison or court officials. Psychological symptoms generally resemble the patient's sense of mental illness rather than any recognized category. The syndrome may occur in persons with other mental disorders such as schizophrenia, depressive disorders, toxic states, paresis, alcohol use disorders and factitious disorders.[2] Ganser syndrome can sometimes be diagnosed as merely malingering, but it is more often defined as dissociative disorder.[2]
The discovery of Ganser syndrome is attributed to Sigbert Josef Maria Ganser (24 January 1853 – 4 January 1931). In 1898, he described the disorder in prisoners awaiting trial in a penal institution in Halle, Germany. He named impaired consciousness and distorted communication, namely in the form of approximate answers (also referred to as Vorbeireden in literature), as the defining symptoms of the syndrome.[1] Vorbeireden involves the inability to answer questions precisely, although the content of the questions is understood.[3]
Ganser syndrome is described as a dissociative disorder not otherwise specified (NOS) in the DSM-IV, and is not currently listed in the DSM-5. It is a rare and an often overlooked clinical phenomenon. In most cases, it is preceded by extreme stress and followed by amnesia for the period of psychosis.[3] In addition to approximate answers, other symptoms include a clouding of consciousness, somatic conversion disorder symptoms, confusion, stress, loss of personal identity, echolalia, and echopraxia.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 Controversy
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Cause[edit]
To date, no definitive cause or reason of the disorder has been established.[4] The sources that classify the syndrome as a dissociative disorder[5] or a factitious disorder conflict in their proposed etiologies. As a result, there are a number of theories as to why the syndrome develops.
Ganser syndrome was previously classified as a factitious disorder, explaining the symptoms as mimicking of what patients who do not experience psychosis believe is typical of the experience.[6] However, the DSM-IV placed the syndrome under "Dissociative Disorders Not Otherwise Specified".[7] There has been evidence of a strong correlation between approximate answers and amnesia, suggesting that these have an underlying dissociative mechanism.[8]
Both Ganser's syndrome and the broader category of dissociative disorders have been linked to histories of hysteria, psychosis, conversion, multiple personality and possible feigning.[8] Despite this, the condition's etiology remains under question due to associations with established psychiatric disorders, as well as organic states.
According to Stern and Whiles (1942), Ganser syndrome is a fundamentally psychotic illness.[1] As evidence, they describe the case of a woman suffering from recurrent mania and a head injury before being submitted to treatment and the report of a schizophrenic male who suffered from alcoholism and had recently been in prison.[1]
Ganser syndrome is also sometimes referred to as "prison psychosis", emphasizing its prevalence among prisoners, generating discussion about whether the disorder only appears in this population.[1] In a study of prisoners, Estes and New concluded that escaping an intolerable situation, such as being incarcerated, prompted the syndrome's key symptoms. The study touched on the malingering controversy surrounding the syndrome, as well as the stress component that often precedes the disorder.[9]
According to F.A. Whitlock, Ganser syndrome is a hysterical disorder, on par with Ganser's description of the disorder.[1] Whitlock pointed to the number of cases in which Ganser syndrome was reported in settings of organic brain disease or functional psychosis as evidence of its hysterical foundations.[1] Kraepelin and Bumke also believed the syndrome to be of a hysterical nature.[3] Bumke thought the syndrome hysterical because amnesia for a traumatic emotional event tends to occur in hysteria more than in other disorders.[3] The giving of approximate answers is thought to be produced in hysterical personalities.[3]
According to Mayer-Gross and Bleuler, Ganser syndrome occurs mainly in epileptic or schizophrenic patients.[3]
Still others claim that an organic condition that could lead to the manifestation of Ganser syndrome symptoms would have to be at an advanced stage in which a diagnosis could be easily given.[10]
There have also been reports of trauma and stroke patients with the syndrome. A study investigating the neurological basis of Ganser syndrome described a patient with symptoms of the disorder who had a history of stroke and bifrontal infarcts.[11] They discovered that hyperglutamatergic states, which are caused by both strokes and stress, share a relationship with dissociative symptoms, suggesting a possible organic pathology that can predispose individuals to the syndrome.[11] Wirtz and colleagues (2008) described a patient with Ganser syndrome after a left-hemispheric middle cerebral artery infarct.[11] A neuropsychological examination revealed atypical lateralisation of cognitive functions, leading to the conclusion that the giving of approximate answers might be related to frontal-executive cerebral dysfunction.[11]
## Diagnosis[edit]
Ganser syndrome was listed under Factitious Disorder with Psychological Symptoms in the DSM-III.[12] The criteria of this category emphasized symptoms that cannot be explained by other mental disorders, psychological symptoms under the control of the individual, and the goal of assuming a patient role, not otherwise understandable given their circumstances.[12]
The DSM-IV-TR classified Ganser syndrome as a dissociative disorder defined by the giving of approximate answers to questions (e.g. '2 plus 2 equals 5' when not associated with dissociative amnesia or dissociative fugue).[7] The ICD-10[5] and DSM-IV do not specify any diagnostic criteria apart from approximate answers, as a requirement for a Ganser syndrome diagnosis.[7] Most case studies of the syndrome also depend on the presence of approximate answers and at least one of the other symptoms described by Ganser in his original paper.[3] Usually when giving wrong answers, individuals are only slightly off, showing that the individual understood the question[9] For instance, when asked how many legs a horse has, they might say, "five". Although subjects appear confused in their answers, in other respects they appear to understand their surroundings.[9] Amnesia, loss of personal identity, and clouding of consciousness were among the most common symptoms apart from approximate answers.[3]
Although there is currently no uniform way to diagnose the syndrome, a full neurological and mental state examination is recommended to determine its presence as well as tests that assess malingering.[6] In addition to mental examination, other investigations should be done to exclude other underlying causes. These include computer tomography scans (CT) or magnetic resonance imaging (MRI) scans to exclude structural pathology, lumbar puncture to exclude meningitis or encephalitis, and electroencephalography (EEG), to exclude delirium or seizure disorder.[13]
Diagnosing Ganser syndrome is challenging because of its rarity and symptom variability. The manifested symptoms may be dependent on the individual's conception of what mental illness entails, creating the possibility of a wide range of combinations of symptoms present in an individual with Ganser syndrome.[6]
## Treatment[edit]
In many cases, the symptoms seem to dwindle after a few days, and patients are often left with amnesia for the period of psychosis.[3] Hospitalization may be necessary during the acute phase of symptoms, and psychiatric care if the patient is a danger to self or others.[14] A neurological consult is advised to rule out any organic cause. Psychotherapy may also recommended for ensuring and maintaining safety.
Ganser patients typically recover quickly and completely.[15] Since Ganser syndrome can be a response to psychic deterioration, its resolution may be followed by other psychiatric symptoms, such as schizophrenia[16] and depression,[17] hence the rationale behind the recommendation of psychotherapy. Medication is usually not required.[14]
## Epidemiology[edit]
With about 100 case studies, the incidence of the disorder is not precisely known.[13] Individuals of multiple backgrounds have been reported as having the disorder. The syndrome was historically thought to be more common in men. However, Whitlock[1] speculates that the higher reported rate of Ganser in men might be due to the greater proportion of men who are incarcerated. It has been most frequently seen in individuals ages 15 to 40 and has also been observed in children.[18] This wide age range is derived from case studies, and therefore may not be an accurate estimate. Ganser syndrome has also been observed in groups other than prison populations.[19]
## Controversy[edit]
There is controversy regarding whether Ganser syndrome is a valid clinical entity.[6] For example, Bromberg (1986) has argued that the syndrome is not due to or related to mental illness, but rather a sort of defense against legal punishment.[9] Some see it as conscious lying, denial and repression, presenting Ganser syndrome symptoms as malingering instead of a dissociative or factitious disorder.[9]
One case study of Ganser syndrome presented a middle-aged man who had been in a car crash and wanted disability insurance benefits.[20] Since he had a big incentive, psychologists took careful measures and implemented testing with malingering instruments, which showed that the man performed below chance on simple memory tests and claimed to experience nonexistent symptoms.[20] Upon further inspection of the collateral information, they found that the patient took part in high-level sports and other activities that were inconsistent with the cognitive dysfunctions he reported, and they determined it to be a case of malingering.[20]
Estes and New concluded that the motivation for the symptoms of the syndrome was escaping an "intolerable situation".[9] Stern and Whiles proposed an alternative explanation, citing Ganser syndrome presented itself in individuals who, although not psychologically well, do not realize it, and want to appear so.[9] Still others attribute the syndrome to inattention, purposeful evasion, suppression, alcoholic excess, head injury, and to unconscious attempts to deceive others as a means to free themselves from responsibility for their actions.[9] This denial of behavior can be seen as a way to overcome anxiety and helplessness brought on by the stressful event that often precedes the syndrome.[9]
These aetiological debates focus on the main symptom of Ganser syndrome and its importance in its diagnosis. Approximate answers are prominent in the Ganser syndrome literature, causing concern in those who believe that this is a relatively simple symptom to feign.[6]
Ganser syndrome was regarded as an Adjustment Reaction of Adult Life in the DSM-II and later was moved under the category of Factitious Disorder with Psychological Symptoms in the DSM-III.[12] Ganser syndrome can also be found under the Dissociative Disorder Not Otherwise Specified (DDNOS) section of the DSM-IV-TR,[7] however it is not listed in the DSM-V, which got rid of the DDNOS section and replaced it with Other Specified Dissociative Disorder (OSDD) and Unspecified Dissociative Disorder (USDD).[21] Despite this, the International Classification of Diseases has Ganser syndrome listed under dissociative disorders.[5]
## See also[edit]
* Paraphasia
## References[edit]
1. ^ a b c d e f g h Whitlock, F.A. (1967). The Ganser Syndrome. The British Journal of Psychiatry, 113(494), 19-29. doi:10.1192/bjp.113.494.19
2. ^ a b Knoblosh, F. (1986). Ganser Syndrome and DSM-III. American Journal of Psychiatry, 143(3), 393-393.
3. ^ a b c d e f g h i Weiner, H.; Brainman, A. (1955). The Ganser Syndrome: A Review and Addition of Some Unusual Cases. American Journal of Psychiatry, 111(10), 767-773. doi:10.1176/ajp.111.10.767
4. ^ Mendis, S.; Hodgson, R.E. (2012). Ganser Syndrome: examining the aetiological debate through a systematic case report review. European Journal of Psychiatry, 26(2). doi:10.4321/S0213-61632012000200003
5. ^ a b c World Health Organization. (1992). The ICD-10 classification of mental and behavioural disorders: Clinical descriptions and diagnostic guidelines. Geneva: World Health Organization.
6. ^ a b c d e Epstein, R.S. (1991). Ganser Syndrome, Trance Logic, and the Question of Malingering. Psychiatric Annals, 21(4), 238-244. doi:10.3928/0048-5713-19910401-11
7. ^ a b c d American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Text rev. Washington, DC. American Psychiatric Association, 2000.
8. ^ a b Cocores, J.A.; Santa, W.G.; Patel L, MD. (1985). The Ganser Syndrome: Evidence Suggesting its Classification as a Dissociative Disorder. The International Journal of Psychiatry in Medicine, 14(1), 47-56.
9. ^ a b c d e f g h i Bromberg, W. (1986). The neglect of Ganser Syndrome. The American Journal of Psychiatry, 143(7), 937-938.
10. ^ Koenig, T.; Lee, H.B. (2001). A Case of Ganser Syndrome: Organic or Hysterical?. General Hospital Psychiatry, 23(4), 230-231. {{doi}10.1016/S0163-8343(01)00147-5}}
11. ^ a b c d Ouyang, D., Duggal, H. S., & Jacob, N. J. (2003). Neurobiological Basis of Ganser Syndrome. Indian Journal of Psychiatry, 45(4), 255–256.
12. ^ a b c American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 3rd ed. Washington, DC. American Psychiatric Association, 1952.
13. ^ a b Dwyer, J.; Reid, S. (2004). Ganser's Syndrome. Lancet, 364(9432), 471-473. doi:10.1016/S0140-6736(04)16772-X
14. ^ a b Carney, M.W.P.; Chary, T.N.K.; Robotis, P.; Childs, A. (1987). Ganser Syndrome and its Management. British Journal of Psychiatry, 151, 697-700. doi:10.1192/bjp.151.5.697
15. ^ Enoch, M. D., & Irving, G. (1962). The Ganser syndrome. Acta Psychiatrica Scandinavica, 38(3), 213-222.
16. ^ Lieberman, A.A. (1954). The Ganser Syndrome in Psychoses. Journal of Nervous and Mental Disease, 120(1-2), 10-16. doi:10.1097/00005053-195407000-00002
17. ^ Haddah, P.M. (1993). Ganser Syndrome Followed by Major Depressive Episode. British Journal of Psychiatry, 161, 251-253. doi:10.1192/bjp.162.2.251
18. ^ Miller, P.; Bramble, D.; Buxton, N. (1997). Case Study: Ganser Syndrome in Children and Adolescents. Journal of the American Academy of Child and Adolescent Psychiatry, 36(1), 112-115. doi:10.1097/00004583-199701000-00024
19. ^ name="Whit"
20. ^ a b c Merckelbach, H.; Peters, M.; Jelicic, M.; Brands, I. and Smeets, T. (2006). Detecting malingering of Ganser‐like symptoms with tests: A case study. Psychiatry and Clinical Neurosciences, 60: 636-638. doi:10.1111/j.1440-1819.2006.01571.x
21. ^ American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing
## Further reading[edit]
* Schutzman, Mady (2003). "Being Approximate: The Ganser Syndrome and Beyond" (PDF). Journal of Medical Humanities. 24 (1/2): 147–158. doi:10.1023/A:1021318118143. Retrieved 14 December 2010.
## External links[edit]
Classification
D
* ICD-10: F44.8
* ICD-9-CM: 300.15
* MeSH: D005162
* DiseasesDB: 31852
External resources
* eMedicine: med/840
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
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Psychoactive substances, substance abuse and substance-related
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Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
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Authority control
* NDL: 00566272
*[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
| Ganser syndrome | c0086335 | 29,545 | wikipedia | https://en.wikipedia.org/wiki/Ganser_syndrome | 2021-01-18T19:04:22 | {"mesh": ["D005162"], "umls": ["C0086335"], "icd-9": ["300.15"], "icd-10": ["F44.8", "F44.80"], "wikidata": ["Q911160"]} |
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems.
In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms.
Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.
## Frequency
CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown.
## Causes
CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system.
Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities seen in people with CM-AVM.
### Learn more about the gene associated with Capillary malformation-arteriovenous malformation syndrome
* RASA1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person inherits the mutation from one affected parent. Other cases 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
| Capillary malformation-arteriovenous malformation syndrome | c1842180 | 29,546 | medlineplus | https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/ | 2021-01-27T08:25:22 | {"gard": ["11904"], "mesh": ["C564254"], "omim": ["608354"], "synonyms": []} |
A number sign (#) is used with this entry because variations in many genes contribute to essential hypertension. For information on genetic heterogeneity of essential hypertension, see the MAPPING section.
Description
The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.
Clinical Features
Ravogli et al. (1990) measured blood pressure in 15 normotensive subjects whose parents were both hypertensive (FH+/+), 15 normotensive subjects with 1 hypertensive parent (FH +/-), and 15 normotensive subjects whose parents were not hypertensive (FH -/-); among the 3 groups, subjects were matched for age, sex, and body mass index. The measurements were made in the office during a variety of laboratory stressors and during a prolonged rest period, and ambulatory blood pressure monitoring was done for a 24-hour period. Office blood pressure was higher in the FH +/+ group than in the FH -/- group. The pressor responses were similar in the 2 groups, but the FH +/+ group had higher prolonged 24-hour blood pressure than the FH -/- group; the differences were always significant at the 5% level for systolic blood pressure. The FH +/+ group also had a greater left ventricular mass index by echocardiography than the FH -/- group. The blood pressure values and echocardiographic values of the FH +/- group tended to lie between those of the other 2 groups. Thus, the higher blood pressure shown by individuals in the prehypertensive stage with a family history of parental hypertension does not reflect a hyperreactivity to stress but an early permanent blood pressure elevation. See comments by Pickering (1990), the son of the early defender of the multifactorial hypothesis.
In a comparison of normotensive subjects who had either hypertensive or normotensive parents, van Hooft et al. (1991) found that the mean renal blood flow was lower in subjects with 2 hypertensive parents than in those with 2 normotensive parents. Moreover, both the filtration fraction and renal vascular resistance were higher in the subjects with 2 hypertensive parents. The subjects with 2 hypertensive parents had lower plasma concentrations of renin (179820) and aldosterone than those with 2 normotensive parents. The values in subjects with one hypertensive and one normotensive parent fell between those for the other 2 groups. The conclusion of van Hooft et al. (1991) was that alterations in renal hemodynamics occur at an early stage in the development of familial hypertension.
Examination of the biochemical processes that effect blood pressure homeostasis should elucidate some of the interactive physiologic regulators that malfunction in persons with elevated pressure and show whether single genes of large effect are important in some. For example, the electrochemical gradients of cations across erythrocyte membranes are maintained by at least 7 pathways. Garay and Meyer (1979) demonstrated an abnormally low ratio of Na+ to K+ net fluxes in sodium-loading and potassium-depleted erythrocytes of human essential hypertension. This finding was absent in normotensive families and in secondary hypertension, but present in some young normotensive children of hypertensive parents.
Garay et al. (1980) found that erythrocytes have a Na, K-cotransport system (independent of the pump) that extrudes both internal Na and K and is functionally deficient in red cells of persons with essential hypertension and some of their descendants, with or without hypertension. Parfrey et al. (1981) showed that whereas young adults with a familial predisposition to hypertension behave similarly to those without such a predisposition in having a pressor response to a high sodium intake, they are peculiar in showing a depressor response to a high potassium intake. Garay (1981) found a defect in the furosemide-sensitive Na-K cotransfer mechanism in red cells of patients with essential hypertension and in some of their normotensive relatives. The same defect is found in strains of experimental animals bred for susceptibility to salt-induced hypertension or spontaneous hypertension.
Etkin et al. (1982) assessed red cell sodium transport simply by measuring the unidirectional passive influx of sodium-22 into ouabain-treated erythrocytes. In American blacks with essential hypertension, this approach failed to show the abnormal erythrocyte sodium transport that is characteristic of white persons with essential hypertension. Thus, among American blacks, essential hypertension may have a different genetic basis. De Wardener and MacGregor (1982) reviewed evidence for the hypothesis that 'the underlying genetic lesion is a renal difficulty in excreting sodium,' which sets in train a rise in the circulating concentration of a sodium-transport inhibitor.
Canessa et al. (1980) found ouabain-insensitive erythrocyte sodium-lithium countertransport (SLC) to be at least 2-fold elevated in patients. Woods et al. (1982) confirmed these results and further showed that normotensive sons of patients had significantly higher rates of countertransport than sons of normotensive controls. In patients with a positive family history, Clegg et al. (1982) found raised lithium efflux in 76% and raised red cell sodium content in 36%. Heagerty et al. (1982) measured sodium efflux rates in leukocytes in 18 normotensive subjects who had one or more first-degree relatives with essential hypertension. The total efflux rate constant was significantly lower, owing to reduced ouabain-sensitive sodium pump activity.
Woods et al. (1983) demonstrated that the rate of sodium-lithium countertransport may not be a wholly intrinsic feature of the red cell; a dialyzable plasma factor could be demonstrated. In a study of white males, Weder (1986) found that lithium clearance, a measure of proximal tubular reabsorption of sodium, was reduced and red-cell lithium-sodium countertransport was increased in hypertensives as compared with normals. Within the group of normotensive controls, lithium clearance was lower in those with at least 1 first-degree relative with hypertension than in those with no hypertensive relative. Weder (1986) concluded that enhanced proximal tubular sodium reabsorption may precede the development of essential hypertension.
Kagamimori et al. (1985) found a significant correlation in lithium-sodium countertransport and sodium-potassium cotransport rates in red blood cells in parent-offspring pairs (r = 0.52, p less than 0.01, and r = 0.46, p less than 0.01, respectively) but not in husband-wife pairs. Sodium pump rates, on the other hand, were significantly correlated in both pairs. This led them to conclude that sodium pump has a substantial environmental component whereas the genetic component predominates in the other functions. This conclusion was supported by the fact that sodium pump rates correlated significantly with sodium/creatinine and sodium/potassium ratios in casual urine. Hasstedt et al. (1988) presented evidence supporting the possibility that an allele at a major locus elevates the rate of sodium-lithium countertransport. Rebbeck et al. (1991) found evidence of both environmental and genetic factors in the determination of sodium-lithium countertransport.
Parmer et al. (1992) assessed baroreflex sensitivity in hypertensives with or without a positive family history of hypertension and in normotensives with or without a positive family history. This was done by recording cardiac slowing in response to acute phenylephrine-induced hypertension and cardiac acceleration in response to amyl nitrite-induced fall in blood pressure. Of all variables investigated, family history of hypertension was the strongest unique predictor of baroreflex sensitivity. Parmer et al. (1992) suggested that impairment in baroreflex sensitivity in hypertension is in part genetically determined and may be an important hereditary component in the pathogenesis of essential hypertension.
Low birth weight is associated with the subsequent development of hypertension in adult life. Maternal malnutrition has been suggested as the cause. Edwards et al. (1993) suggested an alternative etiology, namely, increased fetal exposure to maternal glucocorticoids. Benediktsson et al. (1993) pointed out that hypertension is strongly predicted by the combination of low birth weight and a large placenta. Normally, fetal protection is afforded by placental 11-beta-hydroxysteroid dehydrogenase (218030), which converts physiologic glucocorticoids to inactive products.
Siffert et al. (1995) and Pietruck et al. (1996) demonstrated an enhanced signal transduction via pertussis toxin-sensitive G proteins in lymphoblasts and fibroblasts from selected patients with essential hypertension.
Noon et al. (1997) studied 105 men, aged 23 to 33 years, drawn at random from the population studied by Medical Research Council Working Party (1985). In hypertensive subjects with hypertensive parents, Noon et al. (1997) reported impaired dermal vasodilatation and fewer capillaries on the dorsum of the finger, as compared to these factors in hypertensive subjects with hypotensive parents or hypotensive subjects with either hypo- or hypertensive parents. No differences in other hemodynamic indices were seen among the groups. Noon et al. (1997) suggested that defective angiogenesis may be an etiological component in the inheritance of hypertension.
### Salt-Sensitive Essential Hypertension
Several varieties of familial, salt-sensitive, low-renin hypertension with a proven or presumptive genetic basis have been described (Gordon, 1995). The conditions in which the molecular basis of the disorder has been identified at the DNA level include 2 forms of Liddle syndrome (177200) due to mutation in the beta subunit (600760.0001) or gamma subunit (600761.0001) of the amiloride-sensitive epithelial sodium channel; the syndrome of apparent mineralocorticoid excess (AME) due to a defect in the renal form of 11-beta-hydroxysteroid dehydrogenase (218030); and the form of familial hyperaldosteronism which is successfully treated with low doses of glucocorticoids, such as dexamethasone ('glucocorticoid-remediable aldosteronism'), which is due to a Lapore hemoglobin-like fusion of the contiguous CYP11B1 (610613) and CYP11B2 (124080) genes.
In studies in rats, Machnik et al. (2009) demonstrated that TONEBP (604708)-VEGFC (601528) signaling in mononuclear phagocytes is a major determinant of extracellular volume and blood pressure homeostasis, and that VEGFC is an osmosensitive, hypertonicity-driven gene intimately involved in salt-induced hypertension.
### Syndromic Forms of Hypo- and Hypertension
Lifton (1996) reviewed the molecular genetics of human blood pressure variation. He pointed out that at least 10 genes have been shown to alter blood pressure; most of these are rare mutations imparting large quantitative effects that either raise or lower blood pressure. These mutations alter blood pressure through a common pathway, changing salt and water reabsorption in the kidney. Disorders that fall into this category include glucocorticoid remediable aldosteronism (103900), the syndrome of apparent mineralocorticoid excess (218030), and Liddle syndrome (177200), which is known to be caused by a mutation in either the beta subunit or the gamma subunit of the renal epithelial sodium channel. Unlike the preceding conditions, hypotension characterizes the following mendelian disorders: pseudohypoaldosteronism type 1 (264350), which can be produced by mutation in either the alpha subunit (600228) or the beta subunit (600760) of the same epithelial sodium channel involved in Liddle syndrome; and Gitelman syndrome (263800), which is caused by mutations in the thiazide-sensitive Na-Cl cotransporter (600968).
Lifton et al. (2001) reviewed rare syndromic forms of hyper- and hypotension showing mendelian inheritance, for some of which the underlying mutations have been identified by positional cloning and candidate gene analyses. These genes all regulate renal salt reabsorption, in accordance with the work of Guyton (1991) and others that established that the kidney plays a central role in blood pressure regulation.
Inheritance
Hasstedt et al. (1988) measured red cell sodium in 1,800 normotensive members of 16 Utah pedigrees ascertained through hypertensive or normotensive probands, sibs with early stroke death, or brothers with early coronary disease. Likelihood analysis suggested that RBC sodium was determined by 4 alleles at a single locus, each allele being recessive to all alleles associated with a lower mean level. The 4 resultant distributions occurred in the following frequencies: 0.8%, 89.3%, 9.7%, and 0.2% with corresponding means for sodium level (mmol/1 RBC) of 4.32, 6.67, 9.06, and 12.19, respectively. The major locus was thought to explain 29% of the variance in red cell sodium; polygenic inheritance explained another 54.6%. A higher frequency of the high red cell sodium genotype in pedigrees in which the proband was hypertensive rather than normotensive provided evidence that this major locus increases susceptibility to hypertension.
From a study of systolic blood pressure in 278 pedigrees ascertained through children enrolled in the Rochester, Minnesota, school system, Perusse et al. (1991) obtained results suggesting that variability in systolic blood pressure is influenced by major effects of allelic variation of a single gene, with gender and age dependence. They suggested that a single gene may be associated with a steeper increase of blood pressure with age among males and females.
Mapping
Chromosome 1p36.1
Funke-Kaiser et al. (2003) proposed that the ECE1 gene (600423) on chromosome 1p36.1 is a candidate for human blood pressure regulation and identified 5 polymorphisms in ECE1 among a cohort of 704 European hypertensive patients. In 100 untreated hypertensive women, both the -338A (600423.0002) and -839G (600423.0003) alleles were significantly associated with ambulatory blood pressure values.
Chromosome 1q42-43
Jeunemaitre et al. (1992) presented evidence of genetic linkage between the angiotensinogen gene (AGT; 106150) and hypertension in humans, demonstrated association of AGT molecular variants with the disease, and found significant differences in plasma concentrations of angiotensinogen among hypertensive subjects with different AGT genotypes. Using the affected-pedigree-member method of linkage analysis in 63 white European families in which 2 or more members had essential hypertension, Caulfield et al. (1994) found evidence of linkage and association of the AGT gene locus with essential hypertension.
Lifton (1996) commented on the fact that of the small number of candidate genes examined for possible involvement in hypertension, only the gene encoding angiotensinogen has met relatively stringent criteria supporting its role in the pathogenesis of essential hypertension. Secreted by the liver, angiotensinogen undergoes sequential cleavage by renin and angiotensin I-converting enzyme to produce the active hormone angiotensin II, which promotes the rise in blood pressure.
Chromosome 2p25-p24 (HYT3; 607329)
Angius et al. (2002) found evidence for linkage of an essential hypertension susceptibility locus, HYT3, to chromosome 2p25-p24.
Chromosome 3p14.1-q12.3 (HYT7; 610948)
By performing a metaanalysis of genomewide scans for blood pressure variation and hypertension in Caucasians using the genome-search metaanalysis method (GSMA), Koivukoski et al. (2004) found strong evidence of linkage to chromosome 3p14.1-q12.3.
Chromosome 3q21-q25
Bonnardeaux et al. (1994) identified an association between hypertension and several polymorphisms in the AGTR1A gene (106165) on chromosome 3q21-q25.
Chromosome 4p12
Missense variants in the CORIN gene (605236) that impair CORIN function have been associated with hypertensive risk in African Americans (Dries et al., 2005; Wang et al., 2008).
Dong et al. (2013) identified a missense mutation in the CORIN gene (R539C; 605236.0003) that caused impaired activity and appeared to segregate with hypertension in a Han Chinese family.
Chromosome 4p16.3
A polymorphism in the gene encoding adducin-1 (ADD1; 102680.0001) on chromosome 4p16.3 has been associated with salt-sensitive essential hypertension.
Chromosome 5p (HYT6; 610262)
Wallace et al. (2006) found evidence for linkage with hypertension and the covariates of lean body mass (HYT5; 610261) and high renal function (HYT6) on chromosomes 20q and 5p, respectively.
Chromosome 5q34
Resistance to diastolic hypertension (608622) has been associated with variation in the KCNMB1 gene (603951) on chromosome 5q34.
Chromosome 7q22.1
A polymorphism in the CYP3A5 gene (605325.0001) on chromosome 7q22.1 has been associated with salt sensitivity in patients with essential hypertension.
Chromosome 7q36
A mutation in the NOS3 gene (163729.0001) on chromosome 7q36 has been associated with resistance to conventional therapy for essential hypertension and with pregnancy-induced hypertension.
Chromosome 12p12 (HYT4; 608742)
In a genomewide scan of a large Chinese family with primary hypertension, Gong et al. (2003) reported significant linkage to chromosome 12p12.2-p12.1.
Chromosome 12p13
Siffert et al. (1998) detected a novel polymorphism (825C-T) in exon 10 of the gene encoding the beta-3 subunit of heterotrimeric G proteins (GNB3; 139130) on chromosome 12p13; see 139130.0001. The T allele was associated with the occurrence of a splice variant, GNB3-s (encoding G-beta-3-s), in which the nucleotides 498-620 of exon 9 are deleted. This in-frame deletion caused the loss of 41 amino acids and 1 WD repeat domain of the G-beta subunit. By Western blot analysis, the splice variant appeared to be predominantly expressed in cells from individuals carrying the T allele. The behavior of insect cells expressing the splice variant indicated that it is biologically active. Genotype analysis of 427 normotensive and 426 hypertensive subjects suggested a significant association of the T allele with essential hypertension.
Chromosome 15q (HYT2; 604329)
Xu et al. (1999) detected significant linkage of essential hypertension to the telomeric end of 15q in lower extreme diastolic blood pressure sib pairs.
Chromosome 17cen-q11
In an analysis of 177 affected sib pairs, Rutherford et al. (2001) provided evidence for the location of at least 1 hypertension susceptibility locus on chromosome 17. Significant excess allele sharing showed linkage to marker D17S949 on chromosome 17q22-q24; significant allele sharing was also indicated for another marker, D17S799, located close to the centromere. Since these 2 genomic regions are well separated, the results indicated that there may be more than 1 chromosome 17 locus affecting human blood pressure. Rutherford et al. (2001) concluded that the NOS2A (163730) gene, which encodes inducible nitric oxide synthase and maps to chromosome 17cen-q11, may play a role in essential hypertension. A polymorphism within the promoter of the gene showed increased allele sharing among sib pairs and positive association of NOS2A to essential hypertension.
Chromosome 17q (HYT1; 603918)
One of the principal blood pressure loci identified in experimental hereditary hypertension in the rat has been mapped to chromosome 10. Julier et al. (1997) investigated the homologous region on human chromosome 17 in familial essential hypertension. Affected sib-pair analysis and parametric analysis with ascertainment correction gave significant evidence of linkage (p less than 0.0001 in some analyses) near 2 closely linked microsatellite markers, D17S183 and D17S934, that reside 18 cM proximal to the ACE locus. The authors concluded that 17q contains a susceptibility locus (603918) for human hypertension presumably separate from ACE and argued that comparative mapping may be a useful approach for identification of such loci in humans.
By testing a series of microsatellite markers in the region identified by Julier et al. (1997), Baima et al. (1999) confirmed the location of a blood pressure QTL on 17q in a collection of both white and black sib pairs in the U.S.
In an analysis of 177 affected sib pairs, Rutherford et al. (2001) provided evidence for the location of at least 1 hypertension susceptibility locus on chromosome 17. Significant excess allele sharing showed linkage to marker D17S949 on chromosome 17q22-q24; significant allele sharing was also indicated for another marker, D17S799, located close to the centromere. Since these 2 genomic regions are well separated, the results indicated that there may be more than 1 chromosome 17 locus affecting human blood pressure. Rutherford et al. (2001) concluded that the NOS2A (163730) gene, which encodes inducible nitric oxide synthase and maps to chromosome 17cen-q11, may play a role in essential hypertension. A polymorphism within the promoter of the gene showed increased allele sharing among sib pairs and positive association of NOS2A to essential hypertension.
Chromosome 18q21 (HYT8; 611014)
In a case-control study of essential hypertension showing linkage to chromosome 18q21 in Spanish patients, Guzman et al. (2006) observed significant overrepresentation of a 2-SNP MEX3C (611005) haplotype, G at rs1941958 and T at rs1893379, in hypertensive patients compared with controls. Guzman et al. (2006) concluded that MEX3C contributes to essential hypertension in Spanish patients.
Chromosome 20q (HYT5; 610261)
Wallace et al. (2006) found evidence for linkage with hypertension and the covariates of lean body mass and high renal function on chromosomes 20q (HYT5) and 5p (HYT6; 610262), respectively.
Chromosome 20q13
Nakayama et al. (2002) identified a mutation in the PTGIS gene (601699.0001), which maps to chromosome 20q13, in 3 sibs with essential hypertension.
### Pending Linkage and Association Studies
Chromosome 1p36.3-p36.2
Tumor necrosis factor receptor-2 (TNFRSF1B; 191191) has been implicated in insulin resistance and metabolic syndrome disorders such as hypertension. Glenn et al. (2000) tested markers in and near the TNFR2 locus for linkage and association with hypertension as well as hypercholesterolemia and plasma levels of the shed soluble receptor (sTNF-R2). Using sib-pair analysis, they reported a sharp, significant linkage peak centered at TNFRSF1B (multipoint maximum lod score = 2.6 and 3.1 by weighted and unweighted MAPMAKER/SIBS, respectively). In a case-control study, they demonstrated a possible association of TNFRSF1B with hypertension by haplotype analysis. Plasma sTNF-R2 was significantly elevated in hypertensives and showed a correlation with systolic and diastolic blood pressure. A genotypic effect of TNFRSF1B on plasma sTNF-R2, as well as total, low, and high density lipoprotein cholesterol, and diastolic blood pressure was also observed. The authors proposed a scheme for involvement of TNF (see 191160) and its receptors in hypertension and hypercholesterolemia.
Chromosome 1p33
Gainer et al. (2005) found an association between the 8590C variant of the CYP4A11 gene (601310) on chromosome 1p33 and essential hypertension in white individuals.
Chromosome 1q23
By genomewide linkage and candidate gene-based association studies, Chang et al. (2007) demonstrated a replicated linkage peak for blood pressure regulation on human chromosome 1q23, homologous to mouse and rat quantitative trait loci (QTLs) for BP, that contains at least 3 genes associated with blood pressure levels in multiple samples: ATP1B1 (182330), RGS5 (603276), and SELE (131210). Chang et al. (2007) viewed the probable relationship between each of these genes and blood pressure regulation.
Chromosome 1q32
In a Chinese population in Taiwan, Chiang et al. (1997) found an association between the renin gene (179820) HindIII polymorphism on chromosome 1q32 and hypertension.
Chromosome 1q43
Zhang et al. (2004) studied 726 hypertensive Chinese patients and their families for the association between the asp919-to-glu (D919G) polymorphism of the MTR gene (156570) on chromosome 1q43 and the antihypertensive effect of the angiotensin-converting enzyme (ACE; 106180) inhibitor benazepril. Compared to the 919D allele, both population-based and family-based association tests demonstrated that the 919G allele was associated with a significantly less diastolic blood pressure reduction. No significant association was found between the extent of systolic blood pressure reduction and benazepril therapy.
Chromosome 5q15
Yamamoto et al. (2002) screened the ALAP gene (ERAP1; 606832) gene for mutations in 488 unrelated Japanese individuals and identified one polymorphism, lys528 to arg (K528R), that showed an association with essential hypertension. The estimated odds ratio for essential hypertension was 2.3 for presence of the arg allele at codon 528, in comparison with presence of the lys/lys genotype (p of 0.004).
Chromosome 6q24.3
As a complement to linkage and candidate gene association studies, Zhu et al. (2005) carried out admixture mapping using genome scan microsatellite markers among the African American participants in the U.S. National Heart, Lung, and Blood Institute's Family Blood Pressure Program. This population was assumed to have experienced recent admixture from ancestral groups originating in Africa and Europe. Zhu et al. (2005) used a set of unrelated individuals from Nigeria to represent the African ancestral population and used the European Americans in the Family Blood Pressure Program to provide estimates of allele frequencies for the European ancestors. They genotyped a common set of 269 microsatellite markers in the 3 groups at the same laboratory. The distribution of marker location-specific African ancestry, based on multipoint analysis, was shifted upward in hypertensive cases versus normotensive controls, consistent with linkage to genes conferring susceptibility. This shift was largely due to a small number of loci, including 5 adjacent markers on chromosome 6q and 2 on chromosome 21q. The most significant markers that were increased in hypertensive African Americans in 3 different samples and that showed excess of African ancestry among hypertensive cases compared with controls were GATA184A08 on chromosome 6q24 (lod score = 4.14) and D21S1437 on chromosome 21q21 (lod score = 4.34). Zhu et al. (2005) concluded that chromosome 6q24 and chromosome 21q21 may contain genes influencing risk of hypertension in African Americans.
In a large-scale admixture scan for genes contributing to hypertension risk in 1,670 African Americans and 387 control individuals, Deo et al. (2007) identified no candidate genes or linkage peaks that appeared to contribute substantially to the differential risk between African and European Americans. They did observe nominal association at the chromosome 6q24 location (p = 0.16) identified by Zhu et al. (2005). They noted that the study sample used by Zhu et al. (2005) with multiple affected family members may explain the difference in the findings.
Chromosome 8p
Wu et al. (1996) studied the distribution of blood pressure in 48 Taiwanese families with noninsulin-dependent diabetes mellitus and conducted quantitative sib-pair linkage analysis with candidate loci for insulin resistance, lipid metabolism, and blood pressure control. They obtained significant evidence for linkage of systolic blood pressure, but not diastolic blood pressure, to a genetic region at or near the lipoprotein lipase (238600) locus on 8p. Allelic variation around the LPL gene locus was estimated to account for as much as 52 to 73% of the total interindividual variation in systolic blood pressure levels.
Chromosome 11q24.1
Rutherford et al. (2007) identified a quantitative trait locus (QTL) on chromosome 11q24.1 that influenced change of blood pressure measurements over time in Mexican Americans of the San Antonio Family Heart Study. Significant evidence of linkage was found for rate of change in systolic blood pressure (lod = 4.15) and for rate of change in mean blood pressure (lod = 3.94) near marker D11S4464. Rutherford et al. (2007) presented results from fine mapping the chromosome 11 QTL with use of SNP-associated analysis within candidate genes identified from a bioinformatic search of the region and from whole genome transcriptional expression data. The results showed that the use of longitudinal blood pressure data to calculate the rate of change in blood pressure over time provides more information than do the single-time measurements, since they reveal physiologic trends in subjects that a single-time measurement could never capture.
Chromosome 12q
Frossard and Lestringant (1995) carried out association studies at a candidate locus, the pancreatic phospholipase A2 gene (PLA2A; 172410), located on chromosome 12q. Positive associations were found between the presence of a TaqI dimorphic site located in the first intron of this gene and hypertension in 3 populations sampled: 2 from USA and 1 from Germany. The results indicated that a QTL (quantitative trait locus) implicated in determining an individual's genetic susceptibility to hypertension may be present within up to 30 cM of the PLA2A gene. Phospholipase A2 is a rate-limiting enzyme in eicosanoid production. It is coupled to angiotensin II receptors and acts, upon activation by increased intracellular calcium, to release esterified arachidonic acid from membrane phospholipids.
Chromosome 14
Von Wowern et al. (2003) performed a 10-cM genomewide scan in Scandinavian sib pairs (243 patients among 91 sibships) with early onset primary hypertension. After fine mapping of the loci, significant linkage was obtained on chromosome 14 (p = 0.0002 at 41 cM), nearest to marker D14S288 (Z = 2.7).
Chromosome 18p11
Studies in hypertensive humans and rats, as well as in familial orthostatic hypotensive syndrome (143850), suggested that chromosome 18 may have a role in hypertension. In a study using 12 microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive sib pairs, Rutherford et al. (2004) found that there was significant excess allele sharing of the D18S61 marker. The adenylate cyclase-activating polypeptide-1 gene (ADCYAP1; 102980) is involved in vasodilation and maps to the same region (18p11) as the D18S59 marker. Testing a microsatellite marker in the 3-prime untranslated region of ADCYAP1 in age- and gender-matched hypertensive and normotensive individuals showed possible association with hypertension.
Chromosome 21q21
As a complement to linkage and candidate gene association studies, Zhu et al. (2005) carried out admixture mapping using genome scan microsatellite markers among the African American participants in the U.S. National Heart, Lung, and Blood Institute's Family Blood Pressure Program. This population was assumed to have experienced recent admixture from ancestral groups originating in Africa and Europe. Zhu et al. (2005) used a set of unrelated individuals from Nigeria to represent the African ancestral population and used the European Americans in the Family Blood Pressure Program to provide estimates of allele frequencies for the European ancestors. They genotyped a common set of 269 microsatellite markers in the 3 groups at the same laboratory. The distribution of marker location-specific African ancestry, based on multipoint analysis, was shifted upward in hypertensive cases versus normotensive controls, consistent with linkage to genes conferring susceptibility. This shift was largely due to a small number of loci, including 5 adjacent markers on chromosome 6q and 2 on chromosome 21q. The most significant markers that were increased in hypertensive African Americans in 3 different samples and that showed excess of African ancestry among hypertensive cases compared with controls were GATA184A08 on chromosome 6q24 (lod score = 4.14) and D21S1437 on chromosome 21q21 (lod score = 4.34). Zhu et al. (2005) concluded that chromosome 6q24 and chromosome 21q21 may contain genes influencing risk of hypertension in African Americans.
In a large-scale admixture scan for genes contributing to hypertension risk in 1,670 African Americans and 387 control individuals, Deo et al. (2007) identified no candidate genes or linkage peaks that appeared to contribute substantially to the differential risk between African and European Americans, including the chromosome 21q21 locus identified by Zhu et al. (2005).
### Genomewide Linkage Studies
To search systematically for chromosomal regions containing genes that regulate blood pressure, Xu et al. (1999) scanned the entire autosomal genome using 367 polymorphic markers. The study population, selected from a blood pressure screen of more than 200,000 Chinese adults, comprised rare but highly efficient extreme sib pairs (207 discordant, 258 high concordant, and 99 low concordant) and all but 1 parent of these sibs. By virtue of the sampling design, the number of sib pairs, and the availability of genotyped parents, this study represented one of the most powerful of its kind. Although no regions achieved a 5% genomewide significance level, maximum lod scores were greater than 2.0 for regions of chromosomes 3, 11, 15, 16, and 17.
### Exclusion Linkage Studies
Jeunemaitre et al. (1992) could demonstrate no linkage between hypertension and the angiotensin I-converting enzyme locus (ACE; 106180) on chromosome 17. Wu et al. (1996) studied the distribution of blood pressure in 48 Taiwanese families with noninsulin-dependent diabetes mellitus and conducted quantitative sib-pair linkage analysis with candidate loci for insulin resistance, lipid metabolism, and blood pressure control. They found no evidence for linkage of the ACE gene on chromosome 17, nor the angiotensinogen and renin loci on chromosome 1, with either systolic or diastolic blood pressures.
Molecular Genetics
In a review, Garbers and Dubois (1999) identified a number of important blood pressure regulatory genes, including their loci in the human, mouse, and rat genomes. Phenotypes of gene deletions and overexpression in mice were summarized, and a detailed discussion of selected gene products was included.
Animal Model
De Mendonca et al. (1980) found the same changes as those reported by Garay and Meyer (1979) in 3 varieties of genetically transmitted hypertension in the rat: an abnormally low ratio of Na+ to K+ net fluxes in sodium-loading and potassium-depleted erythrocytes.
Kurtz and Morris (1985) found that recently weaned Dahl rats (Dahl et al., 1962) already had a higher than normal blood pressure and greater heart weight to body weight ratio than did normal rats. Thus, the hypertension that develops with salt challenge is superimposed on an already extant difference in blood pressure between strains. Rapp et al. (1989) found that Dahl rats sensitive to hypertension with salt administration had a different RFLP in the renin gene than did Dahl rats resistant to hypertension. They found, furthermore, that when the sensitive and the resistant rats were crossed, the renin RFLP cosegregated with blood pressure in the F2 generation. One dose of the 'sensitive' renin allele was associated with an increment of blood pressure approximately 10 mm Hg, and 2 doses increased blood pressure approximately 20 mm Hg. Rapp et al. (1989) concluded that in the rat the renin gene is, or is closely linked to, 1 of the genes regulating blood pressure.
In a study of crosses between the stroke-prone spontaneously hypertensive rat and the normotensive control strain, Hilbert et al. (1991) localized 2 genes, BP/SP-1 and BP/SP-2, that contribute significantly to blood pressure variation in the F-2 generation. The 2 genes were assigned to rat chromosomes 10 and X, respectively. Comparison of the human and rat genetic maps indicated that the human homolog of BP/SP-1 could reside on chromosome 17q in a region that also contains the angiotensin I-converting enzyme gene. Since ACE1 encodes a key enzyme of the renin-angiotensin system, it is a prime candidate gene in primary hypertension. A rat microsatellite marker of the gene was mapped to rat chromosome 10 within the region containing BP/SP-1. In precisely the same cross prepared by the same investigators, Jacob et al. (1991) likewise mapped a gene they called Bp1 to rat chromosome 10 and demonstrated close linkage to the rat gene for angiotensin I-converting enzyme. They also identified significant, albeit weaker, linkage to a locus, Bp2, on chromosome 18 of the rat. Phenylethanolamine N-methyltransferase (PNMT; 171190), which catalyzes the synthesis of epinephrine from norepinephrine, is encoded by a gene on human chromosome 17 and rat chromosome 10 and is, therefore, also a candidate gene for hypertension in the rat model.
Kreutz et al. (1995) reported further characterization of the BP/SP-1 locus, using a congenic strain of rats carrying a 6-cM chromosomal fragment genotypically identical with the segment on chromosome 10 in the stroke-prone spontaneously hypertensive rat (SHRSP) in whom the BP/SP-1 locus was originally identified. This segment was 26 cM away from the ACE locus. From breeding experiments they concluded that a QTL, termed BP/SP-1a, lies within the SHRSP-congenic region and is linked to basal blood pressure, whereas a second locus on chromosome 10, termed BP/SP-1b, that maps closer to the ACE locus cosegregates predominantly with blood pressure after exposure to excess dietary NaCl. Through the study of inbred Dahl salt-sensitive rats, Gu et al. (1996) demonstrated 2 blood pressure QTLs on rat chromosome 1.
Benediktsson et al. (1993) found that rat placental 11-beta-OHSD activity correlated positively with term fetal weight and negatively with placental weight. Offspring of rats treated during pregnancy with dexamethasone (which is not metabolized by 11-beta-OHSD) had lower birth weights and higher blood pressure when adults than did offspring of control rats.
Cicila et al. (1993) found a difference between Dahl salt-hypertension sensitive (S) and resistant (R) strains of rats, namely, a polymorphism of 11-beta hydroxylase (202010) that cosegregated with the capacity of the adrenal to synthesize 18-hydroxy-11-deoxycorticosterone (18-OH-DOC). They found that the R rat carries an 11-beta hydroxylase allele that is associated with uniquely reduced capacity to synthesize 18-OH-DOC and encodes an 11-beta-hydroxylase protein with 5 amino acid substitutions. The gene for 11-beta-hydroxylase is located on rat chromosome 7. Dubay et al. (1993) showed that in the Lyon hypertensive rat strain different loci are involved in the regulation of steady-state (diastolic pressure) and pulsatile (systolic minus diastolic, or pulse pressure) components of blood pressure. Significant linkage was established between diastolic blood pressure and a microsatellite marker of the renin gene on rat chromosome 13, and between pulse pressure and the carboxypeptidase B gene (114852) on rat chromosome 2. Deng et al. (1994) localized a blood pressure QTL on rat chromosome 2 between 2 candidate loci. They estimated that the particular QTL accounted for 9.2% of the total variance and 26% of the genetic variance.
End-stage renal disease, coronary artery disease, and stroke are complications of hypertension. Why some patients develop complications is unclear, but susceptibility genes may be involved. To test this notion, Brown et al. (1996) studied crosses involving the fawn-hooded rat, an animal model of hypertension that develops chronic renal failure. They were able to localize 2 genes, designated Rf1 and Rf2 by them, which were responsible for about half of the genetic variation in key indices of renal impairment. In addition, they localized another gene, called Bpfh1, which was responsible for about 26% of the genetic variation in blood pressure. Rf1 strongly affected the risk of renal impairment, but had no significant effect on blood pressure. The results showed that susceptibility to a complication of hypertension is under at least partially independent genetic control from susceptibility to hypertension itself.
Vincent et al. (1997) presented evidence that genetic factors may influence the response to antihypertensive drugs. In a backcross population derived from a cross of the Lyon hypertensive rat with Lyon normotensive rat, they used microsatellite markers to identify a QTL on rat chromosome 2 that specifically influences the systolic and diastolic blood pressure responses to administration of a dihydropyridine calcium antagonist. The locus accounted for 10.3% and 10.4% of the total variances in the systolic and diastolic responses to the drug, respectively. In marked contrast, the locus had no effect on either basal blood pressure or on the responses to acute administration of trimetaphan, a ganglionic blocking agent, or of losartan, an angiotensin II subtype 1 receptor (106165) antagonist.
Churchill et al. (1997) tested the role of genetic factors in determining hypertension-induced renal damage by developing a new experimental animal model. Two genetically distinct yet histocompatible kidneys were chronically and simultaneously exposed to the same blood pressure profile and metabolic environment in the same host. Kidneys from normotensive Brown Norway rats were transplanted into unilaterally nephrectomized spontaneously hypertensive rats that carried the major histocompatibility complex of the Brown Norway strain. After 25 days of severe hypertension induced by deoxycorticosterone acetate (DOCA) and salt, Brown Norway donor kidneys, but not spontaneously hypertensive rat kidneys, developed proteinuria, impaired glomerular filtration rate, and extensive vascular and glomerular injury. Control experiments showed that strain differences in renal damage were not related to transplantation-induced renal injury, immunologic rejection, or preexisting strain differences in blood pressure. These studies demonstrated that differences in susceptibility to hypertension-induced renal damage are genetic in these rat strains and established the feasibility of using organ-specific genome transplants to map genes expressed in the kidney. Brown Norway rats showed no blood pressure response to DOCA-salt, showing additional genetic differences in hypertension.
Tanaka et al. (1997) found that in SHRSP rats on a normal NaCl diet, supplementing dietary potassium with KCl exacerbated hypertension, whereas supplementing either K-bicarbonate or K-citrate (KB/C) attenuated hypertension. Supplemental KCl but not KB/C induced stroke in all and only those rats in the highest quartiles of both blood pressure and plasma renin activity. Plasma renin activity was higher with KCl than with KB/C. These observations were interpreted as showing that the severity of hypertension and frequency of stroke in SHRSP rats were selectively Cl(-)-sensitive and Cl(-)-determined.
History
Lifton et al. (1991) excluded APNH (107310) as a candidate gene for susceptibility to essential hypertension.
INHERITANCE \- Multifactorial CARDIOVASCULAR Vascular \- Elevated systolic blood pressure \- Elevated diastolic blood pressure \- Elevated mean arterial pressure MISCELLANEOUS \- Multiple genes influence susceptibility to hypertension. Candidate genes include angiotensinogen (AGT, 106150 ), angiotensin receptor-1 (AGTR1, 106165 ), and beta-3 subunit of guanine nucleotide-binding protein (GNB3, 139130 ). Susceptibility loci include HYT1 ( 603918 ) and HYT2 ( 604329 ). ▲ 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
| HYPERTENSION, ESSENTIAL | c0085580 | 29,547 | omim | https://www.omim.org/entry/145500 | 2019-09-22T16:39:50 | {"doid": ["10825"], "mesh": ["D000075222"], "omim": ["145500"], "icd-9": ["401.9", "401"], "icd-10": ["I10"], "synonyms": ["Alternative titles", "EHT"]} |
## Description
Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.
See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13.
Mapping
In 3 families with multiple familial trichoepithelioma, 2 African American and 1 Caucasian, Harada et al. (1996) found linkage of the disorder to a 4-cM region between IFNA (147660) and D9S126 on chromosome 9p21; maximum combined lod = 3.31 at D9S171 at theta = 0.0.
*[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
| TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2 | c1275122 | 29,548 | omim | https://www.omim.org/entry/612099 | 2019-09-22T16:02:20 | {"mesh": ["C536611"], "omim": ["612099"], "orphanet": ["867", "79493"], "synonyms": ["Alternative titles", "MFT2"]} |
Köhler disease
Other namesAseptic necrosis of the tarsal bone, Kohler's Disease of the Tarsal Navicular, Osteochondritis of tarsal/metatarsal bone
Skeleton of foot. Medial aspect.
SpecialtyOrthopedics
Usual onset6-9 years old
TreatmentBelow knee cast, rest, NSAIDs, analgesics
PrognosisGood, with very few complications if treated
Köhler disease (also spelled "Kohler" and referred to in some texts as Kohler disease I)[1] is a rare bone disorder of the foot found in children between six and nine years of age. The disease typically affects boys, but it can also affect girls. It was first described in 1908 by Alban Köhler (1874–1947), a German radiologist.[2][3] Dr. A. Köhler noted that children with foot pain displayed characteristics, within their x-rays, of irregularity in growth and development of the tarsal navicular bone in the foot. Furthermore, Köhler disease is known to affect five times more boys than girls and typically, only one foot is affected. The disease was then found to belong to a group of conditions called osteochondroses, which disturb bone growth at ossification centres which occurs during bone development.
It is caused when the navicular bone temporarily loses its blood supply. As a result, tissue in the bone dies and the bone collapses. When treated, it causes no long term problems in most cases although rarely can return in adults. As the navicular bone gets back to normal, symptoms typically abate.
In February 2010, the Journal of the American Medical Association reported that the 19-year-old king Tutankhamun may well have died of complications from malaria combined with Köhler disease II.[4]
## Contents
* 1 Symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Symptoms[edit]
Sufferers experience pain and swelling in the middle part of the foot and usually limp as a result. Patients who walk with a limp tend to walk with increased weight on the lateral side of the foot. Also, there can be tenderness over the navicular. Patients often complain of pain over the apex. An X-ray of both feet is used to diagnose disease. The affected foot tends to have a sclerotic and flattened navicular bone. Symptoms may last for a few weeks or may continue to be present for up to 2 years.[5] An indication of the symptoms residing is the resolution of the acute inflammation and obvious healing of the foot. This means that the affected bone and the Tarsal Navicular begin to regain their normal size, density and structure.[6]
## Cause[edit]
The cause of Köhler's disease, has thus far, been declared unknown by scientists.[6] However, it is suspected that possible causes may be caused by strain on the foot and the blood vessels associated with it, before the bone is fully able to grow into its adult form (ossification).[6] This bone ossification usually begins within the first 18 to 24 months of a female's life and the first 24 to 30 months of a male's life. Ossification will occur more slowly on the tarsal navicular bone than on other bones of the foot. This causes an overall loss of blood supply in the areas surrounding, as a result of the compression.[6] Furthermore, some scientists have suggested that genetic factors could play a significant role in the development of the disease, however no direct causation has been identified, nor a disease-causing gene.[6]
## Diagnosis[edit]
Diagnosis is made on the basis of history and a high index of suspicion. On examination there is tenderness to palpation on navicular head. Radiographs reveal typical changes of increased density and narrowing of the navicular bone.[citation needed]
## Treatment[edit]
Treatment usually involves resting the affected foot, taking pain relievers and trying to avoid putting pressure on the foot. In acute cases, the patient is often fitted with a cast that stops below the knee. The cast is usually worn for 6 to 8 weeks. After the cast is taken off, some patients are prescribed arch support for about 6 months. Also, moderate exercise is often beneficial, and physical therapy may help as well.[citation needed]
Prognosis for children with this disease is very good. It may persist for some time, but most cases are resolved within two years of the initial diagnosis. Although in most cases no permanent damage is done, some will have lasting damage to the foot.
## References[edit]
1. ^ "Podiatry Network - Kohler's Disease". www.podiatrynetwork.com.
2. ^ Köhler A (1908). "Über eine häufige, bisher anscheinend unbekannte Erkrankung einzelner kindlicher Knochen". Münchener medizinische Wochenschrift. 55: 1923–5.
3. ^ synd/2676 at Who Named It?
4. ^ Roberts, Michelle (16 February 2010). "'Malaria and weak bones' may have killed Tutankhamun". BBC News.
5. ^ "Kohler Disease". Foot Health 4 Kids. Retrieved 2018-09-04.
6. ^ a b c d e "Kohler disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-09-04.
## External links[edit]
* "Kohler disease". Genetic and Rare Diseases Information Center (GARD). National Institutes of Health, The Office of Rare Diseases Research (ORDR).
Classification
D
* ICD-10: M92.6
* ICD-9-CM: 732.5
* DiseasesDB: 7204
External resources
* eMedicine: orthoped/410
* Orphanet: 2054
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner 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
| Köhler disease | c0158444 | 29,549 | wikipedia | https://en.wikipedia.org/wiki/K%C3%B6hler_disease | 2021-01-18T18:30:40 | {"gard": ["6842"], "umls": ["C0158444"], "icd-10": ["M92.6"], "orphanet": ["2054"], "wikidata": ["Q578257"]} |
Fear or a specific sense of respect, awe, and submission to a deity
For other uses, see Fear of God (disambiguation).
Religious text on a metal plaque set in a stone boulder near the parking area and viewpoint on Hawksworth Road north of Baildon.
Fear of God refers to fear or a specific sense of respect, awe, and submission to a deity. People subscribing to popular monotheistic religions might fear divine judgment, hell or God's omnipotence.
## Contents
* 1 Christianity
* 2 Islam
* 3 Judaism
* 4 Bahá'í
* 5 Alternate views
* 6 See also
* 7 References
* 8 External links
## Christianity[edit]
In the New Testament, this fear is described using the Greek word φόβος (phobos, "fear/horror"), except in 1 Timothy 2:10, where Paul describes γυναιξὶν ἐπαγγελλομέναις θεοσέβειαν (gynaixin epangellomenais theosebeian), "women professing the fear of God", using the word θεοσέβεια (theosebeia).
The term can mean fear of God's judgment. However, from a theological perspective "fear of the Lord" encompasses more than simple fear. Robert B. Strimple says, "There is the convergence of awe, reverence, adoration, honor, worship, confidence, thankfulness, love, and, yes, fear."[1] In the Magnificat (Luke 1:50) Mary declaims, "His mercy is from age to age to those who fear him." The Parable of the Unjust Judge (Luke 18:1-8) finds Jesus describing the judge as one who "...neither feared God nor cared for man." Some translations of the Bible, such as the New International Version, sometimes replace the word "fear" with "reverence".[citation needed]
According to Pope Francis, “The fear of the Lord, the gift of the Holy Spirit, doesn’t mean being afraid of God, since we know that God is our Father that always loves and forgives us,...[It] is no servile fear, but rather a joyful awareness of God’s grandeur and a grateful realization that only in him do our hearts find true peace.”[2] Roman Catholicism counts this fear as one of the seven gifts of the Holy Spirit. In Proverbs 15:33, the fear of the Lord is described as the "discipline" or "instruction" of wisdom.[3] Writing in the Catholic Encyclopedia, Jacques Forget explains that this gift "fills us with a sovereign respect for God, and makes us dread, above all things, to offend Him."[4] In an April 2006 article published in Inside the Vatican magazine, contributing editor John Mallon writes that the "fear" in "fear of the Lord" is often misinterpreted as "servile fear" (the fear of getting in trouble) when it should be understood as "filial fear" (the fear of offending someone whom one loves).[5]
Lutheran theologian Rudolf Otto coined the term numinous to express the type of fear one has for God. Anglican lay theologian C. S. Lewis references the term in many of his writings, but specifically describes it in his book The Problem of Pain and states that fear of the numinous is not a fear that one feels for a tiger, or even a ghost. Rather, the fear of the numinous, as C. S. Lewis describes it, is one filled with awe, in which you "feel wonder and a certain shrinking" or "a sense of inadequacy to cope with such a visitant and our prostration before it". It is a fear that comes forth out of love for the Lord.[citation needed]
## Islam[edit]
Taqwa is an Islamic term for being conscious and cognizant of God, of truth, of the rational reality, "piety, fear of God".[6][7] It is often found in the Quran. Al-Muttaqin (Arabic: لِّلْمُتَّقِينَ Al-Muttaqin) refers to those who practice taqwa, or in the words of Ibn Abbas \-- "believers who avoid Shirk with Allah and who work in His obedience."[8]
## Judaism[edit]
See also: Devekut § Forms of love and fear of God
The first mention of the fear of God in the Hebrew Bible is in Genesis 22:12, where Abraham is commended for putting his trust in God. In Isaiah 11:1–3, the prophet describes the shoot that shall sprout from the stump of Jesse, "The spirit of the Lord shall rest upon him: a spirit of wisdom and of understanding, A spirit of counsel and of strength, a spirit of knowledge and of fear of the Lord, and his delight shall be the fear of the Lord." Proverbs 9:10 says that "fear of the Lord" is "the beginning of wisdom".[9]
The Hebrew words יִרְאַ֣ת (yir’aṯ) and פחד (p̄aḥaḏ) are most commonly used to describe fear of God/El/Yahweh.[citation needed]
Bahya ibn Paquda characterized two types of fear as a lower "fear of punishment" and a higher "fear of [divine awe] glory." Abraham ibn Daud differentiated between "fear of harm" (analogous to fear of a snake bite or a king's punishment) and "fear of greatness," analogous to respect for an exalted person, who would do us no harm. Maimonides categorized the fear of God as a positive commandment, as the feeling of human insignificance deriving from contemplation of God's "great and wonderful actions and creations." [10][11]
## Bahá'í[edit]
In the Bahá'í Faith, "The heart must be sanctified from every form of selfishness and lust, for the weapons of the unitarians and the saints were and are the fear of God."[12]
## Alternate views[edit]
Author Boyd C. Purcell and atheist Sam Harris have each compared doctrines promoting the fear of God to living under the Stockholm syndrome, where hostages feel a misplaced sense of connection and affection for the hostage taker.[13]
## See also[edit]
* Fear appeal
* God-fearer
* Taqwa
## References[edit]
1. ^ "The Fear of the Lord". Opc.org. Retrieved 12 January 2015.
2. ^ Harris, Elise. "Pope: Fear of the Lord an alarm reminding us of what's right", Catholic News Agency, June 11, 2014
3. ^ The New Revised Standard Version translates the Hebrew as instruction.
4. ^ Forget, Jacques. "Holy Ghost." The Catholic Encyclopedia Vol. 7. New York: Robert Appleton Company, 1910. 3 September 2016
5. ^ Mallon, John (April 2006). "The Primacy of Jesus, the Primacy of Love". ISSN 1068-8579. Cite journal requires `|journal=` (help)
6. ^ "Taḳwā",Encyclopaedia of Islam (2012).
7. ^ Nanji, Azim. "Islamic Ethics," in A Companion to Ethics, Peter Singer. Oxford: Blackwells, n(1991), pp. 106–118.
8. ^ "The Meaning of Al-Muttaqin". Quran Tafsir Ibn Kathir. Retrieved 4 August 2015.
9. ^ The New Jewish Publication Society of America Version translates the Hebrew as discipline.
10. ^ "Fear of God". Jewishvirtuallibrary.org. Retrieved 12 January 2015.
11. ^ Office of the Chief Rabbi Archived October 25, 2012, at the Wayback Machine
12. ^ "Fear of God", Bahá'í Library Online
13. ^ Spiritual Terrorism: Spiritual Abuse from the Womb to the Tomb, by Boyd C. Purcell, page 199, 2008, ISBN 1434378888.
## External links[edit]
Look up theophobia in Wiktionary, the free dictionary.
Wikiquote has quotations related to: Fear of God
* Jewish Encyclopedia: Fear of God
* Bauck, Whitney. "Putting the Fear of God in the Fashion Industry", Christianity Today, August 19, 2016
* Compilation of Bible verses
* The Fear of God Compilation of Christian articles and sermons
*[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
| Fear of God | c0522193 | 29,550 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_God | 2021-01-18T19:09:08 | {"wikidata": ["Q1539031"]} |
Ceruminous adenocarcinoma
Other namesCylindroma, ceruminoma, ceruminous adenocarcinoma, not otherwise specified (NOS), ceruminous adenoid cystic carcinoma (ACC),[1][2] ceruminous mucoepidermoid carcinoma
A high power photomicrograph of a ceruminous type adenoid cystic carcinoma
SpecialtyENT surgery
Ceruminous adenocarcinoma is a malignant neoplasm derived from ceruminous glands of the external auditory canal. This tumor is rare, with several names used in the past.[3][4] Synonyms have included cylindroma, ceruminoma, ceruminous adenocarcinoma, not otherwise specified (NOS), ceruminous adenoid cystic carcinoma (ACC),[1][2] and ceruminous mucoepidermoid carcinoma.
## Contents
* 1 Classification
* 2 Signs and symptoms
* 3 Diagnosis
* 3.1 Imaging
* 3.2 Pathology
* 3.2.1 Immunohistochemistry
* 3.3 Differential diagnoses
* 4 Management
* 5 Epidemiology
* 6 References
* 7 Further reading
* 8 External links
## Classification[edit]
This tumor only affects the outer 1/3 to 1/2 of the external auditory canal as a primary site. If this area is not involved, the diagnosis should be questioned. The most common tumor type is ceruminous adenoid cystic carcinoma and ceruminous adenocarcinoma, NOS.
## Signs and symptoms[edit]
Pain is the most common symptom, followed by either sensorineural or conductive hearing loss, tinnitus or drainage (discharge). A mass lesion may be present, but it is often slow growing.[3]
## Diagnosis[edit]
### Imaging[edit]
Imaging studies are used to define the extent of the tumor and to exclude direct extension from the parotid gland or nasopharynx.[5] The imaging findings are usually non-specific, and cannot give a specific diagnosis.
### Pathology[edit]
Tumors are polypoid, identified most often in the posterior canal. It is not uncommon to have ulceration of the surface squamous epithelium. Most tumors are about 1.5 cm in greatest dimension, a limitation of the anatomic site rather than of the tumor type itself.[3] The tumors are separated into three main histologic or microscopic types:
* Ceruminous adenocarcinoma, NOS
* Ceruminous adenoid cystic carcinoma
* Ceruminous mucoepidermoid carcinoma
All of the tumors are infiltrative into the soft tissue, benign ceruminous glands, and/or bone. The tumor may expand into the overlying squamous surface epithelium, but it usually does not arise from the surface epithelium. The tumors are cellular, arranged in solid, cystic, cribriform, glandular, and single cell patterns. It is uncommon to see tumor necrosis, but when it is present, it is diagnostic of cancer. The same is true of perineural invasion. Nuclear pleomorphism is usually easily to identify, with the nuclei containing prominent nucleoli. There are usually increased mitotic figures, including atypical forms. There are usually areas of stromal fibrosis. Ceroid (cerumen or ear wax) is not seen in malignancies, although it is seen in benign tumors. The specific features of each tumor type can help with the separation into adenoid cystic carcinoma or mucoepidermoid types.[3]
#### Immunohistochemistry[edit]
Immunohistochemistry will help to show the biphasic appearance of the tumor, highlighting the basal or the luminal cells:
* Luminal cells: positive with CK7 and CD117
* Basal cells: positive with p63, S100 protein and CK5/6[3][6]
### Differential diagnoses[edit]
It is important to exclude a tumor which is directly extending into the ear canal from the parotid salivary gland, especially when dealing with an adenoid cystic or mucoepidermoid carcinoma. This can be eliminated by clinical or imaging studies. Otherwise, the histologic differential diagnosis includes a ceruminous adenoma (a benign ceruminous gland tumor)[7][8] or a neuroendocrine adenoma of the middle ear (middle ear adenoma).[9]
## Management[edit]
Wide, radical, complete surgical excision is the treatment of choice, with free surgical margins to achieve the best outcome and lowest chance of recurrence. Radiation is only used for palliation. In general, there is a good prognosis, although approximately 50% of patients die from disease within 3–10 years of presentation.[3]
## Epidemiology[edit]
This is a very rare neoplasm accounting for approximately 0.0003% of all tumors and about 2.5% of all external ear neoplasms. There is a wide age range at initial presentation, although the mean age is about 50 years of age. Females are affected slightly more often (1.5:1).[3]
## References[edit]
1. ^ a b Dong, F.; Gidley, P. W.; Ho, T.; Luna, M. A.; Ginsberg, L. E.; Sturgis, E. M. (2008). "Adenoid Cystic Carcinoma of the External Auditory Canal". The Laryngoscope. 118 (9): 1591–1596. doi:10.1097/MLG.0b013e31817c42a8. PMID 18677277. S2CID 20216496.
2. ^ a b Perzin, K. H.; Gullane, P.; Conley, J. (1982). "Adenoid cystic carcinoma involving the external auditory canal. A clinicopathologic study of 16 cases". Cancer. 50 (12): 2873–2883. doi:10.1002/1097-0142(19821215)50:12<2873::aid-cncr2820501230>3.0.co;2-r. PMID 6291744.
3. ^ a b c d e f g Crain, N.; Nelson, B. L.; Barnes, E. L.; Thompson, L. D. R. (2008). "Ceruminous Gland Carcinomas: A Clinicopathologic and Immunophenotypic Study of 17 Cases". Head and Neck Pathology. 3 (1): 1–17. doi:10.1007/s12105-008-0095-9. PMC 2807538. PMID 20596983.
4. ^ Hicks, G. W. (1983). "Tumors arising from the glandular structures of the external auditory canal". The Laryngoscope. 93 (3): 326–340. doi:10.1288/00005537-198303000-00016. PMID 6300574. S2CID 31253554.
5. ^ Aikawa, H.; Tomonari, K.; Okino, Y.; Hori, F.; Ueyama, T.; Suenaga, S.; Bundo, J.; Tsuji, K. (1997). "Adenoid cystic carcinoma of the external auditory canal: Correlation between histological features and MRI appearances". The British Journal of Radiology. 70 (833): 530–532. doi:10.1259/bjr.70.833.9227237. PMID 9227237.
6. ^ Ito, K.; Ito, T.; Tsukuda, M.; Kanisawa, M. (1993). "An immunohistochemical study of adenoid cystic carcinoma of the external auditory canal". European Archives of Oto-Rhino-Laryngology. 250 (4): 240–244. doi:10.1007/bf00171533. PMID 7690238. S2CID 11946085.
7. ^ Thompson, L. D.; Nelson, B. L.; Barnes, E. L. (2004). "Ceruminous adenomas: A clinicopathologic study of 41 cases with a review of the literature". The American Journal of Surgical Pathology. 28 (3): 308–318. doi:10.1097/00000478-200403000-00003. PMID 15104293. S2CID 27571673.
8. ^ Dehner, L. P.; Chen, K. T. (1980). "Primary tumors of the external and middle ear. Benign and malignant glandular neoplasms". Archives of Otolaryngology. 106 (1): 13–19. doi:10.1001/archotol.1980.00790250015004. PMID 6243462.
9. ^ Torske, K. R.; Thompson, L. D. R. (2002). "Adenoma versus Carcinoid Tumor of the Middle Ear: A Study of 48 Cases and Review of the Literature". Modern Pathology. 15 (5): 543–555. doi:10.1038/modpathol.3880561. PMID 12011260.
## Further reading[edit]
* Lester D. R. Thompson; Bruce M. Wenig (2011). Diagnostic Pathology: Head and Neck: Published by Amirsys. Hagerstown, MD: Lippincott Williams & Wilkins. pp. 7:90–93. ISBN 978-1-931884-61-7.
## External links[edit]
Classification
D
* ICD-10: Xxx.x
* ICD-9-CM: xxx
*[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
| Ceruminous adenocarcinoma | c0334353 | 29,551 | wikipedia | https://en.wikipedia.org/wiki/Ceruminous_adenocarcinoma | 2021-01-18T18:38:35 | {"umls": ["C0334353"], "wikidata": ["Q5065302"]} |
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
*[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
| Distal arthrogryposis type 10 | c1861238 | 29,552 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251515 | 2021-01-23T19:03:40 | {"mesh": ["C566069"], "omim": ["187370"], "umls": ["C1861238"], "icd-10": ["Q68.8"], "synonyms": ["DA10", "Plantar flexion contracture", "Short Achilles tendon", "Short tendo calcaneus"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr15: 28.7-30.3 Mb, NCBI36). The 15q13.3 deletion is a recurrent 1.53-Mb deletion that resides between breakpoints BP4 and BP5 and includes 7 protein-coding genes. Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024), both of which reside within the critical region. Most patients have heterozygous deletions, but some have homozygous deletions, which are associated with a more severe phenotype.
See also chromosome 15q11-q13 duplication syndrome (608636), which has been associated with overlapping features.
Susceptibility to idiopathic generalized epilepsy-7 (EIG7; 604827) has also has been linked to chromosome 15q13.3 deletion.
Description
Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).
Clinical Features
Sharp et al. (2008) reported a recurrent microdeletion syndrome characterized by mental retardation, epilepsy, and variable dysmorphism of the face and digits. They described 9 affected individuals, including 6 probands: 2 with de novo deletions, 2 who inherited the deletion from an affected parent, and 2 with unknown inheritance. Features shared among 3 or more individuals included hypertelorism, upslanting palpebral fissures, prominent philtrum with full everted lips, short and/or curved fifth finger, and short fourth metacarpals. Skeletal and/or joint defects of the hand were observed in 7 of the 9 individuals. Seizures or abnormal electroencephalograms were reported in 7 of the 9 individuals. Sharp et al. (2008) recommended that testing for the 15q13.3 deletion syndrome should be considered in individuals with unexplained mental retardation, seizures, and mild dysmorphic features.
Ben-Shachar et al. (2009) identified 20 individuals, including 14 children and 6 parents from 12 families, with microdeletions of chromosome 15q13.3. Clinical features were variable, but 12 of 14 children had developmental delay, mental retardation, or borderline IQ. At least 6 children had symptoms within the range of autism spectrum disorder (ASD; 209850). Nine children demonstrated abnormal behavior, including aggressiveness, repeated head banging, and/or attention deficit hyperactivity disorder. Only 1 child had seizures. The facial appearance was variable and ranged from near normal to moderately dysmorphic. Common facial features included hypertelorism, short philtrum, and everted and thick upper lip. Mild digital aberrations, including brachydactyly and clinodactyly, were observed in 5 patients. Family studies showed that the deletion was inherited in 7 of 8 families where determinable. Two fathers with the deletion had learning disability and bipolar disorder (see 125480), whereas the 4 other parents with the deletion had no neurologic or psychiatric abnormalities, indicating incomplete penetrance. The last family had no parental samples available, but affected sibs suggested familial inheritance. Of note, 6 of the 14 children had been adopted, suggesting that adoption may have been related to cognitive, psychiatric, or social difficulties in their biologic parents who may have carried the deletion. Ben-Shachar et al. (2009) noted the wide range and heterogeneity of phenotypic expression reported for this deletion.
Miller et al. (2009) identified 5 unrelated patients with chromosome 15q13.2-q13.3 deletion involving breakpoints 4 and 5 (BP4-BP5) identified by array comparative genomic hybridization (CGH). All had subtle dysmorphic features, impaired language skills, and developmental delay. One patient had mental retardation, and 4 had below average to average intelligence, including 2 with significant learning disability. The patients often had oromotor dyspraxia with disarticulation. Some had mild motor delay. Most had a diagnosis of an autism spectrum disorder or autistic features, as well as difficulties with attention, hyperactivity, mood regulation, and impulsive behaviors. Two patients inherited the microdeletion from a mother with learning difficulties. The deletion sizes ranged from 1.50 to 1.93 Mb.
Shinawi et al. (2009) identified the same 680-kb deletion of chromosome 15q13.3 in 10 individuals from 4 families. One family of European ancestry contained 6 affected individuals. The proband was an 8-year-old boy with obesity, severe mental retardation, and mild facial dysmorphism, including epicanthal folds, anteverted nares, and a thin upper lip. Although he did not have seizures, EEG was abnormal. The deletion was present in his mother, 2 sibs, maternal aunt, and maternal grandmother. The mother and her sister had a history of mental retardation and epilepsy, and his sibs had global developmental delay. In a second family, the proband was a 21-month-old girl with impaired growth and severe global developmental delay. Her mother, who also carried the deletion, was reported to have normal intelligence, but had a history of epilepsy since age 5. Another unrelated patient with the deletion had mild mental retardation, attention deficit hyperactivity disorder, and aggressive behavior without seizures, and yet another had global developmental delay, hypotonia, and failure to thrive. In all, 4 of 10 individuals with the 680-kb deletion had seizures or EEG abnormalities, and 9 of 10 showed developmental delay and/or mental retardation.
Van Bon et al. (2009) reported 18 probands with heterozygous deletion of chromosome 15q13.1-q13.3. Sixteen of the patients who had a BP4-BP5 deletion were detected among a larger cohort of 6,624 persons referred for mental retardation and/or congenital defects, yielding a rate of 0.24%. One of the most severely affected individuals was a girl who had onset of seizures at age 1 month, showed delayed psychomotor development, and was severely mentally retarded with poor speech, apathetic behavior, and sleeping problems. She also had short stature and microcephaly. Dysmorphic features included asymmetric skull with bitemporal narrowing, bristly hair, synophrys, blepharophimosis, squint, bulbous nasal tip, and folded helices. Other features included tapering fingers, deep palmar creases, hypoplastic fourth and fifth toes, an external rotation of the feet, and multiple pigmented nevi. Brain MRI showed showed several abnormalities, such as an arachnoidal cyst, parenchymal hypoplasia, dislocation of cerebellar structures, and mild hypogenesis of the corpus callosum. Microarray analysis showed a deletion between BP4 and BP5, which was also present in the normal mother. At the other end of the phenotypic spectrum was a 9-year-old girl with normal cognitive development who presented at birth with tetralogy of Fallot and triphalangeal thumb. She had mild hypertelorism. Microarray analysis showed a BP4-BP5 deletion with uncertain inheritance. Overall, 16 of 18 probands had some degree of cognitive impairment varying from mild learning problems to all levels of mental retardation. Behavioral problems were frequent (59%), and comprised poor attention span, hyperactivity, and aggressive/impulsive behavior. Less common features were hypotonia (47%), prominent nasal tip (35%), short stature (24%), strabismus (18%), large ears (24%), cardiac defects (17%), fifth finger clinodactyly (24%), and pigmented nevi (18%). However, there were a total of 13 relatives who carried the same deletion as the proband, and all of these frequencies would be significantly lower if those individuals were included. Only 2 patients had a history of seizures. Two individuals had a different deletion of BP3-BP5, and 1 had a deletion of BP3-BP4. In the family of 1 proband with deletion of BP3-BP4, the deletion was also also present in an unaffected brother, father, and uncle, but not present in a mentally retarded brother, suggesting that it is not of clinical significance. Van Bon et al. (2009) concluded that BP4-BP5 deletion does not lead to a clinically recognizable syndrome, but that it likely plays a contributing role in the pathogenesis of conditions affecting the brain, including mental retardation. The variable phenotypic outcome of the deletion is likely to be determined in conjunction with other factors, such as a mechanism for overcoming primary embryologic defects.
Pagnamenta et al. (2009) reported 3 male sibs with autism associated with an approximately 2.0-Mb deletion of chromosome 15q13.3 involving BP4-BP5 that was inherited from their unaffected mother. All 3 boys had a history of language delay, and IQ levels ranged from 72 to 96. None had seizures, and none had dysmorphic features, although 2 had an increased head circumference (greater than 97th percentile).
Masurel-Paulet et al. (2010) found that 16 (0.35%) of 4,625 patients tested for developmental delay had a microdeletion of chromosome 15q13.3 including the CHRNA7 gene. Twelve patients and 13 relatives had the common deletion between BP4 and BP5 ranging in size from 1.5 to 1.8 Mb. The phenotype was variable, and characterized by mild or no dysmorphic features and mild to moderate mental retardation. Two patients had epilepsy, 6 had anxiety disorder, 3 had phobias, 4 had inhibition, 2 were hyperactive, 1 self-mutilated, and 1 had autistic features. None had schizophrenia. In 6 families, the deletion was inherited from an apparently normal parent, indicating incomplete penetrance; in 4 families, the carrier parent reported learning disabilities. One patient with a severe phenotype including epileptic encephalopathy with retinopathy, autistic features, and choreoathetosis was homozygous for a 1.5-Mb BP4-BP5 deletion. Both of his parents, who carried the deletion, had mild mental retardation. In addition, 3 patients and 2 relatives had a smaller 500-kb deletion. A review of reported cases in the literature indicated that male carriers of a 15q13 deletion are more likely to be symptomatic.
Of 1,035 individuals carrying copy number variants associated with schizophrenia, Sahoo et al. (2011) identified 69 individuals with microdeletion at 15q13.3. Indications for study in these 69 individuals included developmental delay, autism, dysmorphic features, seizures, hypotonia, obsessive compulsive disorder, and congenital heart defect. The average age at diagnosis was 6.6 years with an age range of 0.1 to 19.7 years. Sahoo et al. (2011) concluded that these and other results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
Hoppman-Chaney et al. (2013) identified 19 individuals, including 10 probands and 9 family members, with a heterozygous deletion of chromosome 15q13.3 including only the CHRNA7 gene and no neighboring genes, and 1 patient with a homozygous deletion of CHRNA7. The patients were ascertained from a database of over 15,000 individuals who underwent cytogenetic testing. Ten individuals were from 2 independent extended families, and the deletion segregated with the phenotype. Among 15 children with the deletion, 5 were under the age of 2 years and did not have obvious neurocognitive problems. The other children had variable developmental delay, cognitive disability, autistic features, and/or attention-deficit hyperactivity disorder. Five of 6 patients with available clinical information had dysmorphic features, such as upslanting palpebral fissures, dental malocclusion, hypertelorism, and macro- or microcephaly. Only 1 patient had seizures. One patient had a de novo deletion, and another with a more severe phenotype had a homozygous deletion. All 5 parents with the deletion had neurocognitive features of the disorder.
Lowther et al. (2015) identified a total of 246 cases (133 children, 113 adults) with deletions overlapping or within the 15q13.3 BP4-BP5 region, including 7 novel adult cases from local cohorts. No BP4-BP5 deletions were identified in 23,838 adult controls. Overall, 198 cases (121 children, 77 adults; 80.5%) had at least 1 neuropsychiatric diagnosis. Accounting for ascertainment, developmental disability/intellectual disability was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and attention deficit hyperactivity disorder in 6.5%. By contrast, major congenital malformations, including congenital heart disease (2.4%), were uncommon. Placenta previa occurred in the pregnancies of 4 cases.
Using published and unpublished case subjects as well as clinical microarray data from 38,325 individuals with a range of neurodevelopmental disorders, Uddin et al. (2018) identified 156 individuals with 15q13.3 microdeletions impacting the typical BP4-BP5 region. Only 1 individual with this deletion was found among 22,241 control individuals (p less than 1.30 x 10(-29)). Eight of the 156 patients with deletions had a primary diagnosis of autism spectrum disorder (ASD). Analysis of the breakpoints found a minimal region of overlap associated with an atypical smaller deletion in 42 cases, which included only 2 genes: CHRNA7 and OTUD7A. OTUD7A was implicated in particular because a 5-year-old girl had a deletion encompassing only OTUD7A but not CHRNA7, and 3 probands with de novo heterozygous OTUD7A-specific mutations were identified in another cohort of over 6,000 ASD individuals studied.
Cytogenetics
Among the 9 individuals with deletions of 15q13 reported by Sharp et al. (2008), the proximal breakpoint of the largest deletion was contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region (see 105830), extending 3.95 Mb distally to BP5. The smaller 1.5-Mb deletion had a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains 6 genes, including a candidate gene for epilepsy, CHRNA7 (118511), that the authors suggested was responsible for the seizure phenotype observed in this syndrome. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams-Beuren (194050), Angelman, and Prader-Willi (176270) syndromes.
Makoff and Flomen (2009) noted that BP4-BP5 region has many segmental duplications and inverted repeats, and suggested that the BP4-BP5 inversion polymorphism identified by Sharp et al. (2008) probably did not predispose to the observed chromosome 15q13.3 microdeletions, since nonallelic homologous recombination between duplicons in the same orientation would produce a small deletion removing CHRFAM7A (609756) but leaving CHRNA7 intact. Makoff and Flomen (2009) suggested that a polymorphic inversion of the CHRFAM7A gene (Flomen et al., 2008) would be more likely to predispose to the observed microdeletions, including deletion of the CHRNA7 gene.
In the study by Ben-Shachar et al. (2009), the most common BP4-BP5 deletion of 1.6 Mb corresponded to chromosome 15q13.3, and was seen in 11 of 12 families. One family had a larger BP3-BP5 deletion of 3.4 Mb, corresponding to 15q13.1q13.3. In all of the families, the BP4-BP5 critical region was deleted.
The common 680-bp deletion in the 10 patients studied by Shinawi et al. (2009) lay within the 1.5-Mb deletion of 15q13.3 and encompassed the entire CHRNA7 gene and the first exon of 1 of the isoforms of OTUD7A (612024). The 680-bp deletion was always accompanied by a 90-kb duplication within BP4. Detailed analysis allowed narrowing of the precise breakpoints, and indicated that the deletion likely resulted from nonallelic homologous recombination between low-copy repeats within the FAM7A1 and FAM7A2 genes. Shinawi et al. (2009) concluded that haploinsufficiency for CHRNA7, and not for OTUD7A, underlay the phenotype. In their population, Shinawi et al. (2009) found a significantly higher number of similar-sized duplications, suggesting that they are comparatively benign.
Sahoo et al. (2011) analyzed 38,779 individuals referred to the diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. They also analyzed the indications for study for individuals with copy number variants overlapping those found in 6 individuals referred for schizophrenia. After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), Sahoo et al. (2011) identified 1,113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the 6 individuals referred for schizophrenia. Of these, 1,035 had a copy number variant of 1 of 6 recurrent loci: 1q21.1 (612474, 612475), 15q11.2 (608636), 15q13.3, 16p11.2 (611913), 16p13.11 (610543, 613458), and 22q11.2 (192430, 608363). Sahoo et al. (2011) identified the 15q13.3 microdeletion in 69 individuals; 5 were de novo, 12 maternally inherited, 6 paternally inherited, and 46 of unknown inheritance. The microdeletion was seen in 69 of 23,250 cases referred to their laboratory for a frequency of 0.30% and not at all in 5,674 controls for a p value of less than 0.0001 (see Itsara et al., 2009). This microdeletion was previously reported in 0.2% of schizophrenia patients compared to 0.017% controls by Kirov et al. (2009). The frequency reported in a case-control comparison in a variable neurodevelopmental deficit population was 0.48% of cases, with a control frequency of 0.2%, as reported by Vassos et al. (2010). Sahoo et al. (2011) concluded that the results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 15q13.2-q13.3 (BP4-BP5) deletion was identified in 46 cases and no controls for a p value of 1.44 x 10(-10) and a frequency of 1 in 342 cases.
Antonacci et al. (2014) showed that recurrent deletions in the chromosome 15q13.3 region are likely caused by genomic instability due to segmental duplications and inversion events. They demonstrated that the inversion breakpoints map near GOLGA8 (616180) and are likely caused by a duplicated sequence that increases the probability of unequal crossovers.
Inheritance
The chromosome 15q13.3 deletion is inherited in approximately 75% of cases, but has also been found in apparently normal individuals, consistent with incomplete penetrance (summary by Hoppman-Chaney et al., 2013).
Masurel-Paulet et al. (2010) reported a patient with a severe phenotype including epileptic encephalopathy with retinopathy, autistic features, and choreoathetosis who was homozygous for a 1.5-Mb BP4-BP5 deletion. Both of his parents, who carried the deletion, had mild mental retardation.
Endris et al. (2010) reported 2 additional unrelated German patients with homozygous deletions of 15q13.3 associated with severe epileptic encephalopathy. One patient was a 13-year-old boy who presented at birth with severe hypotonia and developed therapy-resistant seizures with hypsarrhythmia at age 4 months. At age 13, he had severe psychomotor retardation, poor growth, and dystonic tetraparesis. Brain MRI showed mildly reduced volume of the frontal lobes and dilated extraaxial spaces. He was compound heterozygous for the recurrent 1.5-Mb deletion inherited from his father and a smaller 680-kb deletion inherited from his mother. Neither parent was affected. The second patient had axial hypotonia at birth and developed seizures at age 10 months. Brain MRI showed complex anomalies, including reduced hemispheric volume, abnormal white matter signals, thin corpus callosum, dysplastic cerebellum, and retrocerebellar arachnoid cysts. Optic nerve atrophy was suspected. At age 20 months, he had no motor development, no eye contact, and poor growth. Genetic analysis found compound heterozygosity for the 1.5-Mb deletion inherited from the unaffected mother and an overlapping 3.4-Mb deletion inherited from the unaffected father. The common deleted region in all 4 alleles included the CHRNA7 gene.
Among 110 individuals with deletions overlapping or within the 15q13.3 BP4-BP5 region for whom data on transmission was available, Lowther et al. (2015) found that 94 (85.4%) were inherited. Significantly more were of maternal than of paternal origin (69 vs 25 cases; p less than 0.0001).
Molecular Genetics
Hoppman-Chaney et al. (2013) identified 9 probands with heterozygous deletions of chromosome 15q13.3 including only the CHRNA7 gene (118511) and no neighboring genes, who had a variety of neurocognitive defects consistent with the larger chromosome 15q13.3 deletion syndrome. One of the patients with a more severe phenotype was homozygous for the deletion, and 1 additional patient carried a de novo deletion. The findings provided further evidence that deletion of the CHRNA7 gene is responsible for the clinical features of this syndrome.
Uddin et al. (2018) performed whole-genome or whole-exome sequencing in over 6,000 individuals with a neurodevelopmental disorder who did not have a 15q13.3 microdeletion and detected 8 de novo mutations in genes within the breakpoint interval (BP4-BP5), 3 of which occurred in the OTUD7A gene. In 2 sibs (proband is case 3) with autism spectrum disorder (ASD), Uddin et al. (2018) identified a de novo heterozygous 9-bp in-frame deletion in the OTUD7A gene (Asn492_Lys494del). In vitro studies showed that the mutation resulted in normal levels of mutant protein production, but that mutant protein was not able to rescue the abnormal dendritic phenotype of mouse neurons with heterozygous deletion of chromosome 15q13 (Df(h15q13)+/- mouse mutants; see ANIMAL MODEL). Expression of mutant OTUD7A in cultured wildtype neurons significantly reduced dendritic spine length, consistent with a mild dominant-negative effect. Studies of patient cells were not performed. Uddin et al. (2018) also identified 2 additional unrelated patients with ASD associated with de novo heterozygous intronic variants in the OTUD7A gene (c.-223+11014A-G and c.1150+935del); functional studies of these variants and studies of patient cells were not performed.
Animal Model
Fejgin et al. (2014) found that mutant mice with a heterozygous 15q13.3 microdeletion (Df(h15q13)/+) showed marked changes in neuronal excitability in acute seizure assays, with increased propensity to develop myoclonic and absence-like seizures, but decreased propensity for clonic and tonic seizures. Mutant mice had impaired long-term spatial reference memory and a decreased theta frequency in hippocampus and prefrontal cortex, as well as auditory processing deficits similar to those observed in schizophrenia. The neurologic abnormalities in these mice recapitulated some of the phenotypic features observed in humans with 15q13.3 deletions.
Using RNA sequencing, Uddin et al. (2018) found that Df(h15q13)/+ mice had significantly decreased expression of several genes involved in forebrain cortical development, including Chrna7 and Otud7a. This decreased expression was associated with a small, but significant, reduction in dendritic spine density, mature mushroom-shaped spines, dendritic length, and dendritic arborization in the frontal cortex compared to wildtype. Isolated cortical neurons from heterozygous mutant mice showed similar abnormalities. Expression of wildtype OTUD7A was able to rescue the abnormalities in dendritic spine density, length, and the proportion of mushroom and stubby spines, but expression of CHRNA7, KLF13 (605328), or FAN1 (613534), other genes within the candidate region, was unable to rescue these defects. However, CHRNA7 was able to rescue dendrite outgrowth, suggesting some potential overlap in function. Uddin et al. (2018) concluded that OTUD7A is a critical gene in the 15q13.3 microdeletion syndrome.
Yin et al. (2018) found that homozygous Otud7a-null mice had preweaning growth delay, delayed motor milestones, increased seizure-like activity, and impaired vocalization, although memory and learning appeared to be normal as measured by fear conditioning and novel object recognition tests. Homozygous and heterozygous-null mice showed impaired acoustic startle response compared to wildtype, and female mutant mice had reduced prepulse inhibition, all of which may represent features of schizophrenia. Primary cortical neurons derived from Otud7a-null mice showed a significant reduction in dendritic spine density compared to controls, and this defect could be rescued by expression of wildtype Otud7a, although there were no apparent defects in dendritic growth or dendritic complexity. Primary neurons from mutant mice also showed a decrease in functioning excitatory synapses. Yin et al. (2018) concluded that OTUD7A deficiency largely accounts for the human phenotypes associated with 15q13.3 deletion syndrome, and that OTUD7A is important in the regulation of dendritic spine density and activity.
Using 12 behavioral assessments and electroencephalogram recordings with freely-moving mice, Yin et al. (2017) found that loss of Chrna7 expression was not sufficient to cause statistically significant social, behavioral, or neuropsychiatric-like changes. Yin et al. (2017) also found no evidence for electrophysiologic phenotypic difference between Chrna7 -/- and wildtype mice. They concluded that knockout of Chrna7 in mice does not recapitulate phenotypes observed in humans with chromosome 15q13.3 microdeletion syndrome.
*[v]: View 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
| CHROMOSOME 15q13.3 DELETION SYNDROME | c2677613 | 29,553 | omim | https://www.omim.org/entry/612001 | 2019-09-22T16:02:33 | {"doid": ["0060394"], "mesh": ["C567439"], "omim": ["612001"], "orphanet": ["199318"], "synonyms": ["Alternative titles", "CHROMOSOME 15q13.3 MICRODELETION SYNDROME"], "genereviews": ["NBK50780"]} |
MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, and progressive spasticity. Other signs and symptoms may include recurrent respiratory infections and seizures. Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features. The syndrome is caused by having an extra copy (duplication) of the MECP2 gene, and inheritance is X-linked. The syndrome almost always occurs in males (who have one X chromosome), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome.
Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures. Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.
*[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
| MECP2 duplication syndrome | c1846058 | 29,554 | gard | https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome | 2021-01-18T17:59:12 | {"mesh": ["C537723"], "omim": ["300260"], "umls": ["C1846058"], "orphanet": ["1762"], "synonyms": ["MRXSL", "Lubs X-linked mental retardation syndrome (formerly)", "XLMR syndrome, Lubs type", "Mental retardation, X-linked, Lubs type (formerly)", "Trisomy Xq28"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2014)
Meningioangiomatosis
SpecialtyNeurology
Meningioangiomatosis is a rare disease of the brain. It is characterized by a benign lesion of the leptomeninges usually involving the cerebral cortex, and by leptomeningeal and meningovascular proliferation.[1] Often the patient will present with seizures. The disease may be either sporadic or associated with neurofibromatosis type 2. The lesion is usually focused in one place, though extremely rare multifocal cases have been reported in both adults and children.[2] Biopsy is usually necessary for diagnosis. Treatment conventionally involves surgical removal of the lesion.
## References[edit]
1. ^ Wiebe, S. (1 April 1999). "Meningioangiomatosis: A comprehensive analysis of clinical and laboratory features". Brain. 122 (4): 709–726. doi:10.1093/brain/122.4.709.
2. ^ Jamil O, Ramkissoon S, Folkerth R, Smith E (2012). "Multifocal meningioangiomatosis in a 3-year-old patient". Journal of Neurosurgery: Pediatrics (Case report). 10 (6): 486–9. doi:10.3171/2012.9.PEDS1224. PMC 3762590. PMID 23020197.
## Further reading[edit]
* Feng R, Hu J, Che X, Pan L, Wang Z, Zhang M, Huang F, Xu B, Mao R, Sun A, Bao W, Zhong P, Wang Y (2013). "Diagnosis and surgical treatment of sporadic meningioangiomatosis". Clinical Neurology and Neurosurgery. 115 (8): 1407–14. doi:10.1016/j.clineuro.2013.01.021. PMID 23485253.
* Barbosa-Silva E, Dellaretti M, de Carvalho GT, Pereira JL, Botrel L Jr, Pittella JE, de Sousa AA (2012). "Meningioangiomatosis without neurofibromatosis simulating encephalitis in neuroimaging". Surgical Neurology International. 3: 34. doi:10.4103/2152-7806.94035. PMC 3326948. PMID 22530169.
* Drouet A (Dec 2011). "Neurofibromatoses : quel risque épileptique ?" [Seizures in neurofibromatosis. What is the risk?]. Rev Neurol (Paris) (in French). 167 (12): 886–96. doi:10.1016/j.neurol.2011.04.009. PMID 22041820.
This article about a medical condition affecting the nervous system 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
| Meningioangiomatosis | c4054534 | 29,555 | wikipedia | https://en.wikipedia.org/wiki/Meningioangiomatosis | 2021-01-18T19:02:03 | {"umls": ["C4054534"], "wikidata": ["Q17136462"]} |
Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
*[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
| Neuroendocrine tumor of the rectum | c4525743 | 29,556 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100081 | 2021-01-23T18:14:22 | {"synonyms": ["NET of the rectum", "Rectal NET", "Rectal neuroendocrine tumor"]} |
A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
## Epidemiology
Five cases have been reported so far.
## Clinical description
The etiology remains unknown.
## Genetic counseling
The syndrome is inherited in an autosomal recessive manner.
*[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
| Frontofacionasal dysplasia | c2931720 | 29,557 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1791 | 2021-01-23T18:04:28 | {"gard": ["2390"], "mesh": ["C538063"], "omim": ["229400"], "umls": ["C2931720"], "icd-10": ["Q75.8"], "synonyms": ["Gollop syndrome"]} |
Miller (1957) found congenital cyanosis in 3 generations of a California family in a pattern consistent with autosomal dominant inheritance. There was 1 instance of male-to-male transmission. The proband was a newborn baby with cyanosis. Spectroscopic analysis of the hemoglobin of affected persons showed no significant methemoglobinemia but 1.0 to 1.4 g/dl of sulfhemoglobin. No exposure to oxygen agents could be documented. Bunn and Forget (1986) suggested that the affected members of this family had an unstable hemoglobin variant, a disorder compatible with dominant inheritance. They cited an observation that a patient with hemoglobin Olmsted (141900.0208) had significant levels of sulfhemoglobin. Most sulfhemoglobinemia is acquired and occurs in individuals exposed to oxidant compounds, the arylamines being the most common offenders. When acetanilide and phenacetin were in common use as analgesics, sulfhemoglobinemia was encountered rather frequently. In patients with cyanosis induced by acetaminophen, the level of sulfhemoglobin may exceed that of methemoglobin. Dapsone can also induce increased levels of both hemoglobin derivatives. An association of cyanosis with disturbance of bowel function, so-called enterogenous cyanosis, has long been recognized. Sulfhemoglobin was often the predominant derivative in patients with constipation, whereas those with diarrhea had predominantly methemoglobin. The combination of bowel stasis, as in constipation, and exposure to aniline derivatives is probably responsible.
Heme \- Sulfhemoglobinemia Inheritance \- Autosomal dominant Skin \- Congenital cyanosis ▲ 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
| SULFHEMOGLOBINEMIA, CONGENITAL | c1861437 | 29,558 | omim | https://www.omim.org/entry/185460 | 2019-09-22T16:34:04 | {"mesh": ["C566102"], "omim": ["185460"]} |
## Summary
### Clinical characteristics.
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils); mildly dysmorphic facial features apparent in late childhood; and a hypo/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade. Secondary scoliosis and foot deformities are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild non-progressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Roma/Gypsy population.
### Diagnosis/testing.
The diagnosis of CCFDN is based on clinical findings. CTDP1 is the only gene in which pathogenic variants are known to cause CCFDN. Targeted analysis identifies the pathogenic variant IVS6+389C>T in intron 6, the CTDP1 founder variant in the Roma/Gypsy population.
### Management.
Treatment of manifestations: Cataracts are treated surgically; exaggerated inflammatory response and foreign-body reaction to contact lenses and intraocular lenses warrant close postoperative follow up. Peripheral neuropathy is managed symptomatically in the usual manner. Secondary spine and foot deformities may require surgical intervention. Hormone replacement therapy for hypogonadotropic hypogonadism may help prevent osteoporosis.
Prevention of secondary complications: Close monitoring during and after anesthesia for potentially life-threatening complications (pulmonary edema, inspiratory stridor, malignant hyperthermia, and epileptic seizures). Awareness of rhabdomyolysis as a potential complication following viral infections in order to seek medical attention with the first recognizable symptoms and to provide oral corticosteroid treatment (for 2-3 weeks for optimal recovery).
Surveillance: Annual examinations for possible ophthalmologic, neurologic, and endocrine manifestations.
Evaluation of relatives at risk: It is appropriate to evaluate the older and younger sibs of a proband in order to identify as early as possible those who would benefit from early initiation of treatment and preventive measures.
### Genetic counseling.
CCFDN 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. If the pathogenic variants in the family are known, carrier testing for at-risk family members, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.
## Diagnosis
### Suggestive Findings
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) should be suspected in individuals with the following clinical findings:
* Bilateral congenital cataracts, microcornea, and micropupils
* Mildly dysmorphic facial features apparent from late childhood
* Hypo/demyelinating peripheral neuropathy
* Mild non-progressive intellectual deficit
* Intrauterine growth retardation with subsequent small stature and subnormal weight in adulthood
### Establishing the Diagnosis
The diagnosis of CCFDN is established in a proband with the identification of biallelic pathogenic variants in CTDP1 on molecular genetic testing (see Table 1). Molecular genetic testing approaches can include targeted analysis of a pathogenic variant and single-gene testing:
* Targeted analysis of the pathogenic variant, c.863+389C>T (also known as IVS6+389C>T) in intron 6 (a founder variant in the Roma/Gypsy population) can be performed first in individuals of Roma/Gypsy ancestry. To date, all affected individuals and carriers identified have been from the Roma/Gypsy population.
* Single-gene testing. Although it is theoretically possible for other sequence variants in CTDP1 to cause CCFDN, no variants other than c.863+389C>T have been reported to date.
It is important to note that c.863+389C>T reduces, but does not abolish, CTDP1 expression (see Molecular Genetics). It is not known if complete loss of CTDP1 results in different clinical features or is compatible with life.
### Table 1.
Molecular Genetic Testing Used in Congenital Cataracts, Facial Dysmorphism, and Neuropathy
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
CTDP1Targeted analysisDetects c.863+389C>T, the founder variant in the Roma/Gypsy population
Sequence analysis 3The Roma/Gypsy founder variant, c.863+389C>T, is the only pathogenic variant described to date.
Gene-targeted deletion/duplication analysis 4Unknown 5
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. 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\.
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.
5\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a complex disorder whose major manifestations involve the anterior segment of the eye, the skull and face, the nervous system, and the endocrine system [Tournev et al 1999a, Tournev et al 1999b, Tournev et al 2001, Merlini et al 2002, Lassuthova et al 2014, Walter et al 2014].
#### Eye
Congenital cataracts are the invariable first manifestation of the disease [Tournev et al 1999a, Tournev et al 2001]. The cataracts are bilateral and can appear as anterior or posterior subcapsular opacities with clouding of the adjacent part of the lens nucleus or as total cataracts involving the entire lens [Müllner-Eidenböck et al 2004].
Other ocular manifestations include microcornea, microphthalmia (documented by axial length measurements), and micropupils with fibrotic margins, showing sluggish constriction to light and dilation to mydriatics [Müllner-Eidenböck et al 2004].
Horizontal pendular nystagmus is very common [Tournev et al 1999a, Tournev et al 2001, Müllner-Eidenböck et al 2004] and unrelated to the visual defect caused by the cataracts.
No fundus abnormalities are present.
#### Facial Features
Dysmorphic facial features become apparent in late childhood and are particularly evident in adult males. They include a prominent midface with a well-developed nose, thickening of the perioral tissues, forwardly directed anterior dentition, and micrognathia [Tournev et al 1999a].
#### Nervous System
Hypomyelinating peripheral neuropathy is symmetric and distally accentuated, with predominantly motor involvement progressing to severe disability by the third decade of life. In a study of 28 affected children ages four months to 16 years, Kalaydjieva et al [2005] observed an invariable delay in early motor development, with all starting to walk between ages two and three years, often with an unsteady gait. Clinical signs of lower-limb motor peripheral neuropathy (diminished or absent tendon reflexes, distal lower-limb weakness, and foot deformities) become apparent after age four years, and are soon followed by involvement of the upper limbs [Tournev et al 1999a, Merlini et al 2002, Kalaydjieva et al 2005, Walter et al 2014].
As muscle weakness progresses, spine deformities may also develop and lead to reduction in respiratory capacity [Merlini et al 2002].
Sensory abnormalities (numbness) in the lower limbs develop in persons older than age ten years.
Nerve conduction velocity is normal in infancy at the onset of myelination and subsequently (age >18 months) begins to decline, stabilizing at approximately 20 m/s at around age four to ten years [Kalaydjieva et al 2005, Walter et al 2014]. Distal motor latencies are increased.
Sensory nerve action potentials are of normal amplitude, suggesting a relatively uniform degree of slowing of nerve conduction across nerve fibers, consistent with congenital hypomyelination. Sensory and motor nerves show reduction of amplitudes with disease progression, and some (n. suralis) can become unobtainable after age ten years, indicating secondary axonal loss [Walter et al 2014].
In distal muscles of the upper and lower extremities, neurogenic changes compatible with the underlying neuropathy are seen in all tested patients [Tournev et al 1999b, Tournev et al 2001, Walter et al 2014]. Electromyography, performed in six patients with proximal weakness during the rhabdomyolisis weakness episodes, showed myogenic changes in proximal muscles that were not found after recovery [Walter et al 2014].
Neuropathologic studies of sural nerve biopsies provide evidence of primary hypomyelination in the absence of morphologic abnormalities in the Schwann cell or axon [Tournev et al 1999b, Tournev et al 2001].
Central nervous system manifestations vary in localization and severity and occur in different combinations. In addition to the delayed motor milestones (attributed partly to the peripheral neuropathy), early intellectual development is slow, with most affected children starting to talk around age three years [Tournev et al 1999b, Chamova et al 2015].
Formal assessment of cognitive ability reveals variable results, the interpretation of which should take into account the visual impairment, poor educational status, and language barriers (i.e., cognitive testing performed in a language other than the patient’s mother tongue). According to the available test results, around 10% of affected individuals have normal or borderline cognitive performance, and the rest have mild non-progressive intellectual deficit. Verbal memory, executive functions, and language skills are similarly affected [Chamova et al 2015].
Cerebellar involvement of variable severity with ataxia, nystagmus, intention tremor, and dysmetria is common [Tournev et al 1999a, Merlini et al 2002, Müllner-Eidenböck et al 2004, Lassuthova et al 2014, Walter et al 2014, Chamova et al 2015]. Ataxia scores remain stable or improve slightly during the course of the disease [Walter et al 2014].
Pyramidal signs without spasticity and extrapyramidal hyperkinesis are observed in some [Tournev et al 2001, Chamova 2012, Chamova et al 2015].
Magnetic resonance imaging (MRI) findings of the brain and spinal cord vary.
* The original study identified abnormalities in 16/17 persons [Tournev et al 2001]. Diffuse cerebral and spinal cord atrophy and periventricular white matter changes, the most common findings, are more pronounced in older individuals. Brain MRI in four affected children, age five months to 15 years, revealed abnormalities in three, including myelin immaturity and cerebral, cerebellar, and cervical spine hypotrophy [Tournev et al 2001].
* In another study [Kalaydjieva et al 2005], standard MRI failed to detect any abnormalities; however, diffusion tensor MRI results suggested axonal loss in the vermis and medulla oblongata.
* A follow-up study of an affected boy over a seven-year period found multifocal white matter hyperintensity on T2-weighted imaging, suggesting a progressive mild demyelinating brain process [Cordelli et al 2010].
* In 19/20 affected individuals, ages four to 47 years [Chamova 2012, Chamova et al 2015] brain MRI identified abnormalities including cerebral atrophy with enlargement of the lateral ventricles, hyperintense lesions in periventricular white matter and brain stem (varying from small single to multiple diffuse), and occasionally thin corpus callosum and cerebellar atrophy. Hyperintensities were located predominantly in frontal and parietooccipital periventricular white matter.
* In 7/16 affected individuals, brain MRI showed nonspecific changes, including accentuated ventricles and white matter hyperintense periventricular lesions [Walter et al 2014].
#### Other
Growth. Intrauterine growth restriction is suggested by a study of 22 infants with CCFDN, born at term with significantly lower weight and length than in the general population [Chamova 2012]:
* Males. Birth weight 3.22±0.48 kg (reference value 3.9±0.5 kg); length 47.88±3.91cm (reference 53.1±2.1 cm)
* Females. Birth weight 3.06±0.53 kg (reference 3.8±0.6 kg); length 46.75±4.19 cm (reference 52.5±2.1 cm)
Affected aduIts are of small stature and most are also of subnormal weight [Tournev et al 1999a]:
* Adult males. 149.2±5 cm and 47±7.2 kg (reference values: 173±6.8 cm and 73.9±10.4 kg)
* Adult females. 142.4±8.2 cm and 45.8±7.6 kg (reference values: 160.3±6.4 cm and 63±10.7 kg)
Skeletal deformities, especially of the feet and hands, develop in the course of the disease as a result of the peripheral neuropathy, and are present in all affected adults.
Endocrine system. Growth hormone levels in CCFDN are in the low-normal range, with a pronounced rise after insulin-induced hypoglycemia suggesting mild regulatory deficiency [Tournev et al 1999a].
Sexual development appears unimpaired, with normal secondary characteristics after puberty and normal menarche. However, most adult females report irregular menstrual cycles and early secondary amenorrhea at ages 25-35 years.
Adults of both sexes show evidence of hypogonadotropic hypogonadism, with low testosterone and subnormal FSH levels in males and low estradiol and subnormal LH levels in females [Tournev et al 1999a, Tournev et al 2001]. Subnormal sex hormone levels were rarely observed in a recently reported 16 patients [Walter et al 2014]. The effect of these deficits on fertility is difficult to assess, as very few persons with CCFDN enter sexual relationships.
Bone mineral density is decreased, possibly as the compound result of the endocrine involvement and the low physical activity due to the peripheral neuropathy [Tournev et al 1999a, Tournev et al 2001].
Parainfectious rhabdomyolysis, a potentially life-threatening complication that leads to acute kidney failure, may in fact be an integral part of the phenotype. Rhabdomyolysis refers to disintegration of striated muscles and the release of intracellular content into the extracellular compartment, presenting clinically as profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase. Rhabdomyolysis in CCFDN usually develops after febrile illness (mostly viral infections) and is characterized by acute severe proximal weakness and myalgia [Walter et al 2014]. Proximal muscle weakness is not otherwise typical for CCFDN [Walter et al 2014]. The episodes are usually recurrent, acute, and dramatic, but resolve spontaneously with none of the affected individuals progressing to acute renal failure [Merlini et al 2002, Mastroyianni et al 2007, Lassuthova et al 2014, Walter et al 2014]. Recovery of muscle function may take up to one year and such episodes can lead to deterioration in the clinical course of the peripheral neuropathy.
Muscle biopsies have shown mild myopathic features with scattered necrotic fibers, normal histochemical reactions for myophosphorylase and phosphofructokinase, and no evidence of mitochondrial pathology [Merlini et al 2002].
### Genotype-Phenotype Correlations
The CCFDN phenotype is consistent, with little variation observed among affected individuals, all homozygous for the ancestral pathogenic variant c.863+389C>T in CTDP1.
### Nomenclature
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) was also referred to as ‘Marinesco-Sjögren syndrome with rhabdomyolysis’ [Müller-Felber et al 1998] until it was demonstrated that the individuals described in that study had CCFDN [Merlini et al 2002].
### Prevalence
Proper figures on the prevalence of CCFDN are not available. The total number of affected individuals diagnosed to date is approximately 170, all of Roma/Gypsy ethnicity.
The carrier rate for the c.863+389C>T pathogenic variant is approximately 7% among the Rudari (the Gypsy group most affected by the disorder) and approximately 1.4% in the general Roma/Gypsy population [Morar et al 2004].
No affected individuals or carriers in other ethnic groups have been identified to date.
## Differential Diagnosis
In early infancy, when bilateral congenital cataracts are the only manifestation, the diagnosis of congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is made highly probable by the detection of accompanying ophthalmologic abnormalities, such as microcornea and microphthalmia.
The differential diagnosis with other conditions presenting in the first year of life with congenital cataracts, microcornea, and microphthalmia will be helped by the delayed developmental milestones in children with CCFDN and subsequent signs of peripheral neuropathy.
Galactokinase deficiency (OMIM 230200), an autosomal recessive inborn error of galactose metabolism, is the main differential diagnosis of CCFDN in infants of Roma/Gypsy ancestry; in this ethnic group, it is caused by the p.Pro28Thr founder variant in GK1 (GALK1) [Kalaydjieva et al 1999].
CCFDN also shares findings with Marinesco-Sjögren syndrome (MSS) and the GBA2-related Marinesco-Sjögren syndrome-like disorder.
Marinesco-Sjögren syndrome (MSS) is an autosomal recessive disorder characterized by cerebellar ataxia with cerebellar atrophy, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesis, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Diagnosis is based on clinical findings and/or biallelic pathogenic variants of SIL1 identified on molecular genetic testing.
The clinical investigations providing the best distinction between CCFDN and MSS are ophthalmologic (cataracts in both disorders but extensive involvement of the anterior eye segment in CCFDN), neurophysiologic (reduced nerve conduction velocity in CCFDN), and neuroimaging (cerebellar atrophy in MSS). Electron-microscopic ultrastructural changes on muscle biopsy are thought to be specific to MSS.
GBA2-related Marinesco-Sjögren syndrome-like disorder (OMIM 614409) is an autosomal recessive condition characterized by progressive cerebellar ataxia developing in early childhood accompanied by lower-limb spasticity as well as an axonal peripheral neuropathy resulting in weakness, muscle wasting, and foot deformities. Early psychomotor development is normal; however, mild progressive cognitive decline accompanies the other progressive central nervous system findings. Bilateral cataracts are observed later in the disease course [Martin et al 2013, Haugarvoll et al 2017].
See Microphthalmia, syndromic: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.
See Cataract: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) and to address the most disabling manifestations, the following evaluations are recommended:
* Visual impairment (ophthalmologic examination)
* Peripheral neuropathy and ensuing physical handicap (neurologic and orthopedic examinations, measurements of nerve conduction velocity)
* Endocrinologic evaluation, related to growth delay, fertility problems, and osteopenia
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
The treatment of cataracts is surgical. The surgical removal of cataracts may be complicated by the micropupils and fibrotic pupillary margins necessitating alternative mechanical methods of dilatation [Müllner-Eidenböck et al 2004].
Patients need close follow up because of unusually exaggerated postoperative inflammatory reactions and strong unspecific foreign-body reaction to contact lenses and intraocular lenses (intraocular lenses are generally better tolerated) [Müllner-Eidenböck et al 2004].
The management of the peripheral neuropathy includes rehabilitation and corrective surgery for the secondary bone deformities.
Hormone replacement therapy may be considered in young females with secondary amenorrhea and increased risk of osteoporosis. Regular rehabilitation can prevent or postpone osteoporosis.
Growth hormone levels in CCFDN are in low normal range and somatotropin hormone substitution is not expected to have considerable effect.
### Prevention of Secondary Complications
Individuals with CCFDN are prone to develop severe and potentially life-threatening complications related to anesthesia, such as pulmonary edema, inspiratory stridor, malignant hyperthermia, and epileptic seizures [Müllner-Eidenböck et al 2004] and thus need close monitoring and possibly intensive postoperative care.
Affected individuals and care providers need to be aware of rhabdomyolysis as a potential complication following viral infections, and seek medical attention with the first recognizable symptoms. Oral corticosteroid treatment for two to three weeks can result in a full recovery within two to six months [Walter et al 2014]. The long-term outcome depends on the recurrence of rhabdomyolysis episodes [Walter et al 2014].
### Surveillance
Annual examinations to monitor for possible ophthalmologic, neurologic, and endocrine complications are warranted.
### Agents/Circumstances to Avoid
General anesthesia in patients with CCFDN may cause complications such as pulmonary edema, inspiratory stridor, malignant hyperthermia, and epileptic seizures [Müllner-Eidenböck et al 2004]. Although such complications have not been unequivocally documented, Masters et al [2017] recommend cautious use of general anesthesia until more information on related risks is available.
Prolonged exercise was reported to provoke myalgia in one patient with CCFDN [Merlini et al 2002].
### Evaluation of Relatives at Risk
It is appropriate to evaluate the older and younger sibs of a proband in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures.
* If the CTDP1 pathogenic variants in the family are known, molecular genetic testing can be used to clarify the genetic status of at-risk sibs.
* If the pathogenic variants in the family are not known careful monitoring of at-risk sibs for the early disease manifestations (ocular, delayed motor milestones, early signs of peripheral neuropathy) will ensure timely diagnosis of those affected.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Experience is very limited, as only three females with CCFDN are known to have given birth [Tournev et al 2001, Walter et al 2014]. The pregnancies are reported as uneventful and were carried to term. Normal pregnancy and delivery have also been reported by mothers of children with CCFDN.
### 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
| Congenital Cataracts, Facial Dysmorphism, and Neuropathy | c1858726 | 29,559 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK25565/ | 2021-01-18T21:33:44 | {"mesh": ["C565822"], "synonyms": ["CCFDN"]} |
## Description
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.
Mapping
Moffatt et al. (2007) characterized more than 317,000 SNPs in DNA from 994 patients with childhood-onset asthma and 1,243 nonasthmatics, using family and case-referent panels. The authors showed multiple markers on chromosome 17q21 to be strongly and reproducibly associated with childhood-onset asthma in family and case-referent panels with a combined p value of less than 10(-12). In independent replication studies the 17q21 locus showed strong association with a diagnosis of childhood asthma in 2,320 subjects from a cohort of German children (p = 0.0003) and in 3,301 subjects from the British 1958 Birth Cohort (p = 0.0005). Moffatt et al. (2007) systematically evaluated the relationship between markers of the 17q21 locus and transcript levels of genes in Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines from children in the asthma family panel used in their association study. The SNPs associated with childhood asthma were consistently and strongly associated (p less than 10(-22)) in cis with transcript levels of ORMDL3 (610075), a member of a gene family that encodes transmembrane proteins anchored in the endoplasmic reticulum. Moffatt et al. (2007) concluded that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma. In the subset of individuals for whom expression data were available, the T nucleotide allele of SNP rs7216389, the marker most strongly associated with disease in the combined genomewide analysis, had a frequency of 62% among asthmatics compared to 52% in nonasthmatics (p = 0.005 in this sample). The additive effect of this allele corresponds to a change of 0.78 standard deviation units in ORMDL3 expression (p less than 10(-22)).
Madore et al. (2008) performed an association study with the 10 SNPs on chromosome 17q21 that showed the strongest association in a French Canadian asthmatic familial collection. Family-based association tests revealed significant associations for 8 SNPs (p = 0.017 to 0.005) and for 2 haplotypes (p = 0.0004 and 0.002, respectively), confirming chromosome 17q21 as an asthma locus.
Bouzigon et al. (2008) presented evidence that the risk of asthma conferred by genetic variants on chromosome 17q21 is restricted to early-onset asthma and is increased when there is exposure to environmental tobacco smoke in early life. They tested 36 SNPs in the 17q21 region in 1,511 subjects from 372 families. Eleven SNPs were significantly associated with asthma (p less than 0.01), of which 3 (rs8069176, rs2305480, and rs4795400) were strongly associated (p less than 0.001). Ordered-subset regression analysis led the authors to select an onset at age 4 years or younger to classify patients as having early-onset asthma. Association with early-onset asthma was highly significant (p less than 10(-5) for 4 SNPs), whereas no association was found with late-onset asthma. Bouzigon et al. (2008) observed a significant association with early-onset asthma only in subjects exposed to environmental tobacco smoke in early life (p less than 5 x 10(-5) for 6 SNPs). Under the best-fitting recessive model, homozygous status (GG) at the most strongly associated SNP (rs8069176) conferred an increase in risk by a factor of 2.9, as compared with other genotypes (AG and AA) in the group exposed to environmental tobacco smoke (p = 2.8 x 10(-6); p = 0.006 for the test for heterogeneity of the SNP effect on early-onset asthma between groups with tobacco exposure and those without such exposure). The identified SNPs span 3 genes in addition to ORMDL3: ZPBP2 (608499), IKZF3 (606221), and GSDMB (611221). Morita and Nagai (2009) questioned why there would be an association with early-onset disease rather than late-onset disease. Bouzigon et al. (2009) replied that they re-analyzed their data and found no association between any of the variants previously investigated and late-onset asthma in sibships exposed or unexposed to environmental tobacco smoke in early life.
Verlaan et al. (2009) performed functional assays of candidate disease-linked variants in the chromosome 17q12-q21 region and identified allele-specific differences in nucleosome distribution, an allele-specific association with the insulator protein CTCF (604167), and weak promoter activity for rs12936231. The authors stated that overall, their findings demonstrated a common disease allele linked to changes in CTCF binding and nucleosome occupancy leading to altered domainwide cis-regulation involving ZPBP2, GSDMB, and ORMDL3. In association studies of 4 candidate SNPs (rs12936231, rs8067378, rs9303277, and rs7216389) in 3 family-based childhood asthma cohorts, all 4 SNPs demonstrated significant evidence for association (p = 8.74 x 10(-7) to 4.95 x 10(-8)) in each of the cohorts, and haplotype association analysis confirmed a strong association of the overexpressed-associated haplotype with asthma risk (p = 8.62 x 10(-8)). Verlaan et al. (2009) noted that strong linkage disequilibrium between these markers precluded recognition of 1 variant over the others as the definitive risk locus, because the combined evidence for association was very similar across markers.
In a genomewide association study of childhood asthma, Sleiman et al. (2010) replicated the previously reported association on chromosome 17q21.
Moffatt et al. (2010) carried out a genomewide association study of 10,365 persons with physician-diagnosed asthma and 16,110 unaffected persons, all of whom were matched for ancestry. They used random-effects pooled analysis to test for association in the overall study population and in subgroups of subjects with childhood-onset asthma (defined as asthma developing before 16 years of age), later-onset asthma, severe asthma, and occupational asthma. The strongest association, of the ORMDL3/GSDMB locus on chromosome 17q21, was specific to childhood-onset disease (rs2305480, P = 6 x 10(-23)).
In 2 cohorts of children born to parents with respiratory allergies or asthma, Caliskan et al. (2013) tested genotypes of 5 asthma-associated SNPs at the 17q21 locus, including rs9303277, rs11557467, rs12936231, rs2290400, and rs7216389, for associations with asthma and with human rhinovirus (HRV) and respiratory syncytial virus (RSV) wheezing illnesses, and for interactions between 17q21 genotypes and HRV and RSV wheezing illnesses with respect to the risk of asthma. Associations of 7q21 variants with asthma were restricted to children who had had HRV wheezing illnesses, resulting in a significant interaction effect with respect to the risk of asthma. Expression levels of the 17q21 genes ORMDL3 (610075) and GSDMB (611221) were significantly increased in HRV-stimulated peripheral blood mononuclear cells (PBMCs) compared to unstimulated PBMCs, but the relative increase was not associated with 17q21 genotype.
*[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
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 | c1969640 | 29,560 | omim | https://www.omim.org/entry/611403 | 2019-09-22T16:03:20 | {"omim": ["611403"], "synonyms": ["Alternative titles", "ASRT6"]} |
For the atrial subtype, see Atrial myxoma. For the virus, see Myxoma virus.
"Myxomatous" redirects here. It is not to be confused with Myxomatosis.
Myxoma
Micrograph of an atrial myxoma. H&E stain.
SpecialtyOncology
A myxoma (New Latin from Greek 'muxa' for mucus) is a myxoid tumor of primitive connective tissue.[1] It is most commonly found in the heart (and is the most common primary tumor of the heart in adults) but can also occur in other locations.
## Contents
* 1 Types
* 2 Symptoms
* 3 Location
* 3.1 Ocular Myxoma
* 3.2 Atrial myxoma
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Types[edit]
* Table below[2]
Myxoma Margin Vascular pattern Cellularity Stroma Staining characteristics Recurrence rate Image (see Histology)
Cutaneous myxoma or Superficial angiomyxoma Poor to moderately circumscribed, multilobular Scattered thin-walled vessels Moderately cellular, bland spindled and stellate cells, variable inflammatory cell infiltrate Abundant mucin with clefts. Up to 30% have an associated epithelial component Vimentin; variable staining with CD34, factor XIIIA, SMA1, MSA2 and S-100 20–30%
Intramuscular myxoma Poorly circumscribed merges with surrounding muscle Hypovascular variant; hypervascular variant Hypocellular variant; hypercellular variant; bland spindle cells Abundant mucin with cystic spaces. Hypercellular variant has strands of collagen Vimentin; variable staining with actin, desmin, CD34 None
Juxta-articular myxoma Poorly circumscribed infiltrates surrounding tissue Focally vascular Focally hypercellular, peripheral spindle cells with occasional atypical cells and mitoses Abundant mucin, 89% of cases contain cystic spaces lined by fibrin or collagen Vimentin; variable staining with actin, desmin, CD34 34%
Aggressive angiomyxoma Infiltrative Uniformly distributed medium-sized blood vessels often with prominent hyalinization Low to moderately cellular, evenly distributed round, spindled or stellate cells Loose myxoid to focally collagenous Vimentin, desmin, SMA1, MSA2, estrogen and progesterone receptor 36–72%
Angiomyofibroblastoma Well circumscribed Abundant thin-walled blood vessels Alternating hypercellular and hypocellular areas, perivascular condensations of spindled to epithelioid stromal cells Collagenous to edematous with minimal mucin Vimentin, desmin, CD34, estrogen and progesterone receptor No recurrences reported, but rare cases of sarcomatous degeneration
Superficial acral fibromyxoma Pushing to infiltrative Mild to moderately accentuated vasculature Moderately cellular, spindle and stellate cells with a storiform to fascicular pattern, variable mast cells Myxoid to collagenous CD34, EMA[clarification needed]3, CD99 Recurrence rare and primarily for incompletely excised lesions
Neurothekeoma (Nerve sheath myxoma) Well circumscribed, multilobular Hypovascular Moderately cellular, spindled cells in fascicles and whorls Nests of cells separated by collagenous bundles S-100, EMA3 47% if incompletely excised
1.^ SMA, smooth muscle actin. 2.^ MSA, muscle-specific actin. 3.^ EMA, epithelial membrane antigen.
## Symptoms[edit]
Symptoms associated with cardiac myxomas are typically due to the effect of the mass of the tumor obstructing the normal flow of blood within the chambers of the heart. Because pedunculated myxomas are somewhat mobile, symptoms may only occur when the patient is in a particular position.
Some symptoms of myxoma may be associated with the release of interleukin 6 (IL-6) by the myxoma.[3][4] High levels of IL-6 may be associated with a higher risk of embolism of the myxoma.[5]
Symptoms of a cardiac myxoma include:[6]
* Dyspnea on exertion
* Paroxysmal nocturnal dyspnea
* Fever
* Weight loss (see cachexia)
* Lightheadedness or syncope (Loss of consciousness)
* Hemoptysis
* Sudden death
* Tachycardia or milder heartrate, i.e. 75 - 100 cycl/min
## Location[edit]
Animated image of an MRI of the heart, showing a large myxoma plunging to and fro from atrium to ventricle across the mitral valve.
### Ocular Myxoma[edit]
Myxoma is a rare, benign stromal tumor of mesenchymal origin often confused with other conjunctival stromal tumors. Conjunctival myxomas are thought to originate in Tenon's capsule and can masquerade as conjunctival lymphoma, lymphangioma, ocular surface squamous neoplasia (OSSN), or amelanotic melanoma.[7]
* Atrial myxoma
* Cutaneous myxoma
* Odontogenic myxoma
A Myxoma. A gelatinous tumor can be seen attached by a narrow pedicle to the atrial septum. The myxoma has an irregular surface and nearly fills the left atrium.
### Atrial myxoma[edit]
Myxomas are usually located in either the left or right atrium of the heart; about 86 percent occur in the left atrium.[8]
Myxomas are typically pedunculated, with a stalk that is attached to the interatrial septum. The most common location for attachment of the stalk is the fossa ovalis region of the interatrial septum.
An atrial myxoma may create an extra heart sound, audible to auscultation just after S2 It is most seen on echocardiography, as a pedunculated mass that is heterogeneous in appearance. A left atrial myxoma will cause an increase in pulmonary capillary wedge pressure.
The differential diagnosis include other cardiac tumors such as lipomas and rhabdomyomas (and rarely teratomas). These other tumors of the heart are typically not pedunculated, however, and are more likely to infiltrate the muscle of the heart. Cardiac magnetic resonance imaging (MRI) can help non-invasively diagnose cardiac tumors. However, diagnosis usually requires examination of a tissue sample by a pathologist.
## Treatment[edit]
Myxomas are usually removed surgically. The surgeon removes the myxoma, along with at least 5 surrounding millimeters of atrial septum. The septum is then repaired, using material from the pericardium.
## Epidemiology[edit]
Cardiac myxomas predominantly appear in females in their 30s to 40s. Myxomas are the most common primary cardiac tumor affecting adults, accounting for one quarter to half of primary cardiac tumors seen in clinical practice.[9]
## See also[edit]
* Myxoid tumor
* Cutaneous myxoma
* Carney complex
* Myxomatosis
* Primary tumors of the heart
* Myxomatous degeneration
## References[edit]
1. ^ "Myxoma" at Dorland's Medical Dictionary
2. ^ Solitary superficial angiomyxoma: an infrequent but distinct soft tissue tumor. Satter. Journal of Cutaneous Pathology, Vol 36, Issue s1, pages 56-59.
3. ^ Seino Y, Ikeda U, Shimada K (1993). "Increased expression of interleukin 6 mRNA in cardiac myxomas". Br Heart J. 69 (6): 565–7. doi:10.1136/hrt.69.6.565. PMC 1025174. PMID 8343326.
4. ^ Jourdan M, Bataille R, Seguin J, Zhang XG, Chaptal PA, Klein B (1990). "Constitutive production of interleukin-6 and immunologic features in cardiac myxomas". Arthritis Rheum. 33 (3): 398–402. doi:10.1002/art.1780330313. PMID 1690543.
5. ^ Wada A; Kanda t; Hayashi R; et al. (1993). "Cardiac myxoma metastasized to the brain: potential role of endogenous interleukin-6". Cardiology. 83 (3): 208–11. doi:10.1159/000015180. PMID 8281536.
6. ^ Fisher J. (1983). "Cardiac myxoma". Cardiovasc Rev Rep (4): 1195–9.
7. ^ Jain, Puneet; Finger, Paul T; Iacob, Codrin E (2018-11-01). "Conjunctival myxoma: A case report with unique high frequency ultrasound (UBM) findings". Indian Journal of Ophthalmology. 66 (11): 1629–1631. doi:10.4103/ijo.IJO_518_18. PMC 6213696. PMID 30355886.
8. ^ Knepper LE, Biller J, Adams HP, Bruno A (1988). "Neurologic manifestations of atrial myxoma. A 12-year experience and review". Stroke. 19 (11): 1435–40. doi:10.1161/01.str.19.11.1435. PMID 3188128.
9. ^ Takahashi, Ayaka; et al. (May 2016). "Multimodal Cardiovascular Imaging of Cardiac Tumors". Annals of Nuclear Cardiology. 2 (1): 61–67. doi:10.17996/anc.2.1_61.
## External links[edit]
Classification
D
* ICD-10: D21.9
* ICD-9-CM: 212.7
* ICD-O: M8840/0
* OMIM: 255960
* MeSH: D009232
* DiseasesDB: 30736
* SNOMED CT: 404082003
External resources
* eMedicine: med/186
* 03-031b. at Merck Manual of Diagnosis and Therapy Home Edition
* 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
* t
* e
Cancers from and involving the heart
Primary
* Papillary fibroelastoma
* Rhabdomyoma
* Angiosarcoma
* Teratoma
* Cystic tumour of the atrioventricular nodal region
Other
* Myxoma
* Atrial
* Lipoma
* Secondary
*[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
| Myxoma | c0027149 | 29,561 | wikipedia | https://en.wikipedia.org/wiki/Myxoma | 2021-01-18T19:06:21 | {"mesh": ["D009232"], "icd-9": ["212.7"], "icd-10": ["D21.9"], "wikidata": ["Q589612"]} |
Glomerulosclerosis
Other namesGlomerular sclerosis
SpecialtyNephrology
Glomerulosclerosis is hardening of the glomeruli in the kidney. It is a general term to describe scarring of the kidneys' tiny blood vessels, the glomeruli, the functional units in the kidney that filter urea from the blood.
Proteinuria (large amounts of protein in urine) is one of the signs of glomerulosclerosis. Scarring disturbs the filtering process of the kidneys and allows protein to leak from the blood into urine. However, glomerulosclerosis is one of many causes of proteinuria. A kidney biopsy (removal of tiny part of kidney with a needle) may be necessary to determine whether a patient has glomerulosclerosis or another kidney problem. About 15 percent of people with proteinuria turn out to have glomerulosclerosis.
Both children and adults can develop glomerulosclerosis and it can result from different types of kidney conditions. One frequently encountered type of glomerulosclerosis is caused by diabetes. Drug use or infections may cause focal segmental glomerulosclerosis (FSGS), a very chronic kidney condition. FSGS may also occur in patients with AIDS but most are of unknown cause.
## Contents
* 1 Types
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Types[edit]
More specifically, glomerulosclerosis can refer to:
* Focal segmental glomerulosclerosis
* Nodular glomerulosclerosis (diabetic)
## Diagnosis[edit]
Early stages of glomerulosclerosis may not produce any symptoms but the most important warning sign is proteinuria, usually discovered in routine medical exams. Losing large amounts of protein may cause swelling in the ankles and accumulation of fluid in the abdomen.
Scarred glomeruli cannot be repaired and many patients with glomerulosclerosis get worse over time until their kidneys fail. This condition is called end-stage renal disease (ESRD) and the patients must begin dialysis treatment or receive a kidney transplant. ESRD may be reached within a year or up to ten or more of diagnosis of glomerulosclerosis but time will vary.
## Treatment[edit]
Treatments for glomerulosclerosis depend on what caused the scarring of the glomeruli. This is determined by renal biopsy. Immunosuppressive drugs stop proteinuria in some patients, but once the treatments have ended proteinuria will continue. The drugs may sometimes damage the patient's kidneys even more.
Controlling the patient's blood pressure may control the progression of kidney failure. ACE inhibitors, a type of blood pressure medicine, preserve kidney function in patients with diabetes. ACE inhibitors may also slow down kidney failure for patients without diabetes. Low protein diets may also lighten the work done by kidneys to process waste. Some patients will need to control their cholesterol through diet or both diet and medicine.
## See also[edit]
* BK virus
* Epstein–Barr virus infection
## References[edit]
* Glomerulosclerosis--WebMD
## External links[edit]
Classification
D
Classification
D
* ICD-10: N26
* DiseasesDB: 33012
* v
* t
* e
Lupus nephritis
* Class I (Minimal mesangial glomerulonephritis)
* Class II (Mesangial proliferative lupus nephritis)
* Class III (Focal proliferative nephritis)
* Class IV (Diffuse proliferative nephritis)
* Class V (Membranous nephritis)
* Class VI (Glomerulosclerosis)
* v
* t
* e
Kidney disease
Glomerular disease
* See Template:Glomerular disease
Tubules
* Renal tubular acidosis
* proximal
* distal
* Acute tubular necrosis
* Genetic
* Fanconi syndrome
* Bartter syndrome
* Gitelman syndrome
* Liddle's syndrome
Interstitium
* Interstitial nephritis
* Pyelonephritis
* Balkan endemic nephropathy
Vascular
* Renal artery stenosis
* Renal ischemia
* Hypertensive nephropathy
* Renovascular hypertension
* Renal cortical necrosis
General syndromes
* Nephritis
* Nephrosis
* Renal failure
* Acute renal failure
* Chronic kidney disease
* Uremia
Other
* Analgesic nephropathy
* Renal osteodystrophy
* Nephroptosis
* Abderhalden–Kaufmann–Lignac syndrome
* Diabetes insipidus
* Nephrogenic
* Renal papilla
* Renal papillary necrosis
* Major calyx/pelvis
* Hydronephrosis
* Pyonephrosis
* Reflux nephropathy
*[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
| Glomerulosclerosis | c0178664 | 29,562 | wikipedia | https://en.wikipedia.org/wiki/Glomerulosclerosis | 2021-01-18T18:56:09 | {"umls": ["C0178664"], "icd-10": ["N26"], "wikidata": ["Q5571239"]} |
Gradenigo's syndrome
Apicitis petrosa as seen in computed tomography
SpecialtyOtorhinolaryngology
Gradenigo's syndrome, also called Gradenigo-Lannois syndrome,[1][2] is a complication of otitis media and mastoiditis involving the apex of the petrous temporal bone. It was first described by Giuseppe Gradenigo in 1904.[3]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Eponym
* 5 References
* 6 External links
## Symptoms[edit]
Components of the syndrome include:
* retroorbital pain due to pain in the area supplied by the ophthalmic branch of the trigeminal nerve (fifth cranial nerve),
* abducens nerve palsy (sixth cranial nerve)[4]
* otitis media
Other symptoms can include photophobia, excessive lacrimation, fever, and reduced corneal sensitivity. The syndrome is classically caused by the spread of an infection into the petrous apex of the temporal bone.
## Diagnosis[edit]
The constellation of symptoms was first described as a consequence of severe, advanced ear infection which has spread to a central portion of the temporal bone of the skull. This type of presentation was common prior to development of antibiotic treatments, and is now a rare complication.
In persons with longstanding ear infection and typical symptoms, medical imaging such as CT or MRI of the head may show changes that confirm disease involvement of the petrous apex of temporal bone.
## Treatment[edit]
The medical treatment is done with antibiotics: ceftriaxone plus metronidazole (which covers anaerobic bacteria). In more severe cases, a paracentesis (aspiration of fluids) or mastoidectomy may be needed.[citation needed]
## Eponym[edit]
It is named after Count Giuseppe Gradenigo, an Italian Otolaryngologist, and Maurice Lannois.[5]
## References[edit]
1. ^ Devic M, Boucher M, Raveau M (April 1966). "[Some cases of Gradenigo-Lannois syndrome]". Journal de Médecine de Lyon. 47 (96): 537–47. PMID 4286558.
2. ^ Bléry M, Chagnon S, Picard A, Babin C (November 1980). "[Cranial osteitis: a report on four cases, including a Gradenigo-Lannois syndrome (author's transl)]". Journal de Radiologie. 61 (11): 677–81. PMID 7452536.
3. ^ Pedroso JL, de Aquino CC, Abrahão A, de Oliveira RA, Pinto LF, Bezerra ML, Gonçalves Silva AB, de Macedo FD, de Melo Mendes AV, Barsottini OG (February 2011). "Gradenigo's Syndrome: Beyond the Classical Triad of Diplopia, Facial Pain and Otorrhea". Case Reports in Neurology. 3 (1): 45–7. doi:10.1159/000324179. PMC 3072192. PMID 21490711.
4. ^ Motamed M, Kalan A (September 2000). "Gradenigo's syndrome". Postgraduate Medical Journal. 76 (899): 559–60. doi:10.1136/pmj.76.899.559. PMC 1741722. PMID 10964120.
5. ^ synd/738 at Who Named It?
## External links[edit]
Classification
D
* ICD-9-CM: 383.02
* DiseasesDB: 32176
* v
* t
* e
Diseases of the outer and middle ear
Outer ear
* Otitis externa
* Otomycosis
Middle ear
and mastoid
* Otitis media
* Mastoiditis
* Bezold's abscess
* Gradenigo's syndrome
* Tympanosclerosis
* Cholesteatoma
* Perforated eardrum
Symptoms
* Ear pain
* Hearing loss
Tests
* Otoscope
* pneumatic
* tympanometry
*[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
| Gradenigo's syndrome | c0018121 | 29,563 | wikipedia | https://en.wikipedia.org/wiki/Gradenigo%27s_syndrome | 2021-01-18T18:52:14 | {"mesh": ["D059270"], "umls": ["C0018121"], "icd-9": ["383.02"], "wikidata": ["Q1422574"]} |
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.
## Epidemiology
The prevalence of ANFH is unknown but around 15,000 cases are reported in each year in the USA. Familial forms of ANFH appear to be very rare, with only three families identified so far.
## Clinical description
Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH).
## Etiology
Most cases are associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis, steroid use, smoking, alcohol intake, haemoglobinopathies and hyperlipidaemia.Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.
*[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
| Familial avascular necrosis of femoral head | c0410480 | 29,564 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86820 | 2021-01-23T19:00:04 | {"gard": ["10914"], "mesh": ["D005271"], "omim": ["608805", "617383"], "icd-10": ["M87.8"], "synonyms": ["Familial osteonecrosis of the femoral head"]} |
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape.
Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition.
Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.
## Frequency
The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.
## Causes
Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene lead to the production of an abnormally short, nonfunctional protein or affect the protein's ability to bind to DNA. It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome.
### Learn more about the gene associated with Nail-patella syndrome
* LMX1B
## Inheritance Pattern
Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases 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
| Nail-patella syndrome | c1842028 | 29,565 | medlineplus | https://medlineplus.gov/genetics/condition/nail-patella-syndrome/ | 2021-01-27T08:25:21 | {"gard": ["7160"], "mesh": ["C564234"], "omim": ["137750", "161200"], "synonyms": []} |
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
## Epidemiology
Less than 100 patients are known worldwide.
## Clinical description
Onset of manifestations of GAMT deficiency occurs between 3 months and 3 years of age. Affected individuals have mild to severe intellectual disability with a distinctive deficit in expressive language, regardless of the degree of the intellectual deficit. Seizures, of different types, are observed in most individuals and are often intractable. Behavioral disorders such as hyperactivity and autistic features are also frequent. Patients may also have movement disorders which mainly affect the extra-pyramidal system and manifest as chorea, athetosis and ataxia.
## Etiology
GAMT deficiency is due to mutations in the GAMT gene (19p13.3). Different mutations (missense, nonsense, splice site, insertions, deletions) have been identified, located on various exons of the GAMT gene. The most frequently identified mutation, c.327G>A (p.K109K, splice site exon 2), is present in at least one allele in over 50% of families. c.59G>C is most frequently encountered in Portuguese patients. To date no genotype phenotype correlation has been established.
## Diagnostic methods
The diagnosis is clinically suspected in children with DD/ID, speech/language delay, autistic behavior and seizures. Diagnosis is based on the presence of high levels of guanidinoacetate (GAA) in the urine/blood and low levels of creatine in the brain. Diagnosis is confirmed by genetic testing for mutations in the GAMT gene. In case of unknown significance of a gene variant, measurement of GAMT enzyme catalytic activity helps to confirm a functional deficiency. Methods for newborn screening have been established and pilot projects are currently being conducted in various newborn screening programs.
## Differential diagnosis
The differential diagnosis in children with a cerebral creatine deficiency includes L-Arginine:glycine amidinotransferase (AGAT) deficiency and X-linked creatine transporter deficiency. In the case of a partial cerebral creatine deficiency, argininosuccinic aciduria, citrullinemia type I, and gyrate atrophy of the choroid and retina (see these terms) should be considered.
## Antenatal diagnosis
Preimplantation or prenatal genetic diagnosis is possible for at risk couples.
## Genetic counseling
Transmission is autosomal recessive. In case of family history, genetic testing for the family of the proband and genetic counseling with regards to family planning is recommended.
## Management and treatment
Treatment consists of oral high dose creatine monohydrate, in combination with ornithine supplementation (100-800mg/kg/day given in 3-6 doses daily) and/or dietary restriction of arginine (15-25mg/kg/day). Management of GAMT deficiency involves regular measurement of plasma guanidinoacetate and ornithine levels. Treatment improves seizures and behavioral and movement disorders, but it cannot reverse intellectual disability and developmental delay incurred before diagnosis. Early detection is essential in avoiding irreversible brain damage.
## Prognosis
GAMT deficiency is a treatable disease and is not life threatening, however life expectancy is limited, particularly in those who have multiple disabilities and severe 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
| Guanidinoacetate methyltransferase deficiency | c0574080 | 29,566 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=382 | 2021-01-23T19:04:08 | {"gard": ["2578"], "mesh": ["C537622"], "omim": ["612736"], "umls": ["C0574080"], "icd-10": ["E72.8"], "synonyms": ["GAMT deficiency"]} |
Uterine inversion
Complete inverted uterus
SpecialtyObstetrics
SymptomsPostpartum bleeding, abdominal pain, mass in the vagina, low blood pressure[1]
TypesFirst, second, third, fourth degree[1]
Risk factorsPulling on the umbilical cord or pushing on the top of the uterus before the placenta has detached, uterine atony, placenta previa, connective tissue disorders[1]
Diagnostic methodSeeing the inside of the uterus in the vagina[2]
Differential diagnosisUterine fibroid, uterine atony, bleeding disorder, retained placenta[1]
TreatmentStandard resuscitation, rapidly replacing the uterus[1]
MedicationOxytocin, antibiotics[1]
Prognosis~15% risk of death[3]
FrequencyAbout 1 in 6,000 deliveries[1][4]
Uterine inversion is when the uterus turns inside out, usually following childbirth.[1] Symptoms include postpartum bleeding, abdominal pain, a mass in the vagina, and low blood pressure.[1] Rarely inversion may occur not in association with pregnancy.[5]
Risk factors include pulling on the umbilical cord or pushing on the top of the uterus before the placenta has detached.[1] Other risk factors include uterine atony, placenta previa, and connective tissue disorders.[1] Diagnosis is by seeing the inside of the uterus either in or coming out of the vagina.[2][6]
Treatment involves standard resuscitation together with replacing the uterus as rapidly as possible.[1] If efforts at manual replacement are not successful surgery is required.[1] After the uterus is replaced oxytocin and antibiotics are typically recommended.[1] The placenta can then be removed if it is still attached.[1]
Uterine inversion occurs in about 1 in 2,000 to 1 in 10,000 deliveries.[1][4] Rates are higher in the developing world.[1] The risk of death of the mother is about 15% while historically it has been as high as 80%.[3][1] The condition has been described since at least 300 BC by Hippocrates.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Associations
* 3 Types
* 4 Treatment
* 5 Epidemiology
* 6 References
## Signs and symptoms[edit]
Drawing of an inverted uterus
Uterine inversion is often associated with significant postpartum bleeding. Traditionally it was thought that it presented with haemodynamic shock "out of proportion" with blood loss, however blood loss has often been underestimated. The parasympathetic effect of traction on the uterine ligaments may cause bradycardia.
## Causes[edit]
The most common cause is the mismanagement of 3rd stage of labor, such as:
* Fundal pressure
* Excess cord traction during the 3rd stage of labor
Other natural causes can be:
* Uterine weakness, congenital or not
* Precipitate delivery
* Short umbilical cord
It is more common in multiple gestation than in singleton pregnancies.
### Associations[edit]
* Placenta praevia
* Fundal Placental Implantation
* Use of Magnesium Sulfate
* Vigorous fundal pressure
* Repeated cord traction
* short umbilical cord
## Types[edit]
Incomplete (left) and complete (right) inversion of the uterus
* One: Complete. Visible outside the cervix.
* Two: Incomplete. Visible only at the cervix.[7]
## Treatment[edit]
Manual replacement of the uterus
Treatment involves standard resuscitation together with replacing the uterus as rapidly as possible.[1] If efforts at manual replacement are not successful surgery is required.[1] After the uterus is replaced oxytocin and antibiotics are typically recommended.[1] The placenta can then be removed if it is still attached.[1]
## Epidemiology[edit]
Uterine inversion occurs in about 1 in 2,000 to 1 in 10,000 deliveries.[1][4] Rates are higher in the developing world.[1]
## References[edit]
1. ^ 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 Bhalla, Rita; Wuntakal, Rekha; Odejinmi, Funlayo; Khan, Rehan U (January 2009). "Acute inversion of the uterus". The Obstetrician & Gynaecologist. 11 (1): 13–18. doi:10.1576/toag.11.1.13.27463.
2. ^ a b Mirza, FG; Gaddipati, S (April 2009). "Obstetric emergencies". Seminars in Perinatology. 33 (2): 97–103. doi:10.1053/j.semperi.2009.01.003. PMID 19324238.
3. ^ a b Gandhi, Alpesh; Malhotra, Narendra; Malhotra, Jaideep; Gupta, Nidhi; Bora, Neharika Malhotra (2016). Principles of Critical Care in Obstetrics. Springer. p. 335. ISBN 9788132226925.
4. ^ a b c Andersen, H. Frank; Hopkins, Michael P. (2009). "Postpartum Hemorrhage". The Global Library of Women's Medicine. doi:10.3843/GLOWM.10138.
5. ^ Mehra, R; Siwatch, S; Arora, S; Kundu, R (12 December 2013). "Non-puerperal uterine inversion caused by malignant mixed mullerian sarcoma". BMJ Case Reports. 2013: bcr2013200578. doi:10.1136/bcr-2013-200578. PMC 3863018. PMID 24334469.
6. ^ Apuzzio, Joseph J.; Vintzileos, Anthony M.; Berghella, Vincenzo; Alvarez-Perez, Jesus R. (2017). Operative Obstetrics, 4E. CRC Press. p. PT822. ISBN 9781498720588.
7. ^ Uterine inversion Archived 2009-10-04 at the Wayback Machine \- Better Health Channel; State of Victoria, Australia; accessed 2009-04-03
*[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
| Uterine inversion | c0162482 | 29,567 | wikipedia | https://en.wikipedia.org/wiki/Uterine_inversion | 2021-01-18T18:49:13 | {"mesh": ["D019687"], "umls": ["C0162482"], "wikidata": ["Q7902651"]} |
Lameness is an abnormal gait or stance of an animal that is the result of dysfunction of the locomotor system. In the horse, it is most commonly caused by pain, but can be due to neurologic or mechanical dysfunction. Lameness is a common veterinary problem in racehorses, sport horses, and pleasure horses. It is one of the most costly health problems for the equine industry, both monetarily for the cost of diagnosis and treatment, and for the cost of time off resulting in loss-of-use.[1]
## Contents
* 1 Causes of lameness
* 1.1 Pain
* 1.2 Mechanical lameness
* 1.3 Neurological lameness
* 2 Signs of lameness
* 2.1 Identifying a front limb lameness
* 2.2 Identifying a hind limb lameness
* 2.3 Other signs of lameness
* 3 The lameness evaluation
* 3.1 History
* 3.2 Physical examination and palpation
* 3.3 Evaluation of the hoof
* 3.4 Evaluation in motion
* 3.5 Grading lameness
* 3.6 Flexion tests
* 3.7 Regional limb anesthesia (nerve blocks)
* 3.8 Objective Lameness Detection and Localization
* 4 Diagnostic tests
* 4.1 Radiographs and Ultrasound
* 4.2 Nuclear Scintigraphy
* 4.3 Computed Tomography
* 4.4 Magnetic Resonance Imaging (MRI)
* 4.5 Thermography
* 4.6 Blood or synovial fluid testing
* 4.7 Arthroscopy
* 4.8 Body-Mounted Inertial Sensor Systems
* 5 Treatment
* 6 Horseman’s terms for lameness or blemishes
* 7 See also
* 8 References
* 9 External links
## Causes of lameness[edit]
Lameness is most commonly caused by pain, but may also be the result of neuromuscular disease or mechanical restriction. Lameness itself is a clinical sign, and not a diagnosis.[2]
Trauma is a common cause of lameness in horses.
### Pain[edit]
Pain is the most common cause of lameness in the horse.[2] It is usually the result of trauma or orthopedic disease, but other causes such as metabolic dysfunction, circulatory disease, and infection can also cause pain and subsequent lameness.
Orthopedic causes of lameness are very common and may be the result of damage to the hoof, bone, joints, or soft tissue. Horses are predisposed to orthopedic lameness by conformational flaws, poor hoof balance, working on poor footing, repetitive movements, poor conditioning for a given activity, and competing at a very high athletic level.[2]
Metabolic causes of lameness include hyperkalemic periodic paralysis (HYPP) and polysaccharide storage myopathy, which directly affect muscular function.
Circulatory causes of lameness occur when blood flow to an area is compromised. This may be due to abnormal blood clotting, as in the case of aortic-iliac thrombosis,[3] or decreased blood flow (ischemia) to an area, such as is sometimes seen in laminitis.
Infectious causes of lameness are the result of inflammation and damage to tissue. These include problems such as cellulitis, hoof abscesses, and septic arthritis.
### Mechanical lameness[edit]
Mechanical lameness is caused by a physical abnormality, such as scar tissue, that prevents normal motion of a limb. Mechanical lameness does not cause pain. Classic examples of mechanical lameness include upward fixation of the patella and fibrotic myopathy, but any type of adhesion (often secondary to scarring during healing post-injury) or fibrosis can cause mechanical lameness.
* Upward fixation of the patella occurs when the normal locking mechanism of the stifle, which allows the horse to "lock" its hind legs into a fixed position so it may stand with minimal effort, engages at inappropriate times such as when the horse is walking. It results in an inability to flex the stifle, so the horse must walk with an extended hind leg. It is associated with straight hind limb conformation (post leg), poor muscling of the hind limb, stifle trauma, and genetics.[4]
* Fibrotic myopathy is caused by damage to the hamstring muscles, usually from trauma or intramuscular injection.[5] It results in the formation of scar tissue and produces a characteristic gait where the horse prematurely "slaps" the ground with its hind foot, shortening the stride length in the damaged leg.[6]
### Neurological lameness[edit]
Neurologic lameness may be the result of infection, trauma, toxicities, or congenital disease.[2] Neurological evaluation of a lame horse may be warranted if the cause of the lameness is not obvious. Signs more commonly associated with a neurologic cause include unilateral muscle atrophy, paresis, paralysis, or dysmetria. Neurologic causes of lameness include:
* Cervical vertebral stenotic myopathy (Wobbler disease): compression of the spinal cord in the cervical (neck) region results in lameness, ataxia, and change in gait, especially in the hind legs, and neck stiffness or pain.
* Stringhalt: caused by damage to the long digital extensor muscle, or from eating the weed Hypochaeris radicata; it produces a gait characterized by rapid, spasmodic hyperflexion of the hind limbs.[7]
* Shivers: a rare neuromuscular disorder characterized by muscle tremors, difficulty picking up the hind feet when asked to lift for farriery work, hyperflexion or hyperextension of the hind limbs, and abduction of the hind limbs. Normal athletic function is often maintained, at least initially.[8]
* Cerebellar abiotrophy: a rare genetic disorder that occurs in Arabian horses, producing ataxia, a base-wide stance, proprioceptive deficits, and high-stepping gait.
* Damage to individual nerves will affect the muscles they innervate and subsequently alter gait. Radial nerve paralysis will cause a dropped elbow and make it difficult to extend the affected limb. Suprascapular nerve damage will lead to atrophy of the main muscles of the shoulder (sweeny). Femoral nerve paralysis causes hyperflexion of the stifles, hocks, and fetlocks and the horse usually walks on the toe of the hind foot.[9]
* Infectious causes affecting the nervous system may be bacterial, viral, protozoal, or rickettsial. Those that commonly alter gait include tetanus, botulism, Lyme disease, equine protozoal myeloencephalitis (EPM), rabies, West Nile virus, equine encephalitis virus, and equine herpesvirus 1.
* Neoplasic (cancerous) changes in the brain or around the spinal cord may also cause alterations in gait.
## Signs of lameness[edit]
Manifestations of lameness include any alteration in gait from what is normal for the horse. In general, it is harder to detect hind limb lameness when compared to lameness in a front limb when using visual cues.
### Identifying a front limb lameness[edit]
The classic sign of lameness in a front leg is a prominent "head bob." Viewed from the side, the horse raises its head and neck when the lame leg hits the ground, which helps to unload the lame leg. This is sometimes remembered by the adage "down on sound." A head bob is usually easy to see when one leg is lame, but can be subtle in very mild unilateral lameness, or in the case of bilateral front limb lameness.[10] A horse may also try to reduce impact on a lame front leg by tensing of the muscles of the shoulder. In this case, it will stiffen the limb just before it hits the ground, a sign that may be noticed by an astute observer.[10]
### Identifying a hind limb lameness[edit]
Evaluation of hind limb lameness can be difficult. Generally, the viewer watches the hip, sacrum, gluteal muscles, or hemi-pelvis (pelvis of one side of the body) when examining lameness in the hind end. Examination should be performed both watching the horse from behind while trotting away from the examiner, and from the side as the horse passes.
When watching from behind, the viewer often looks for a "hip hike" or "pelvic hike." This occurs when the horse raises the pelvis on the lame side as it is bearing weight, trying to shift weight off of the painful leg in a manner similar to raising of the head in front limb lameness. This is a sudden, short upward motion of the hemi-pelvis or gluteal muscles. The hip of the lame leg does not always rise above the level of the hip of the sound leg, which can be confusing to those looking for a "hip hike." Instead, it is an exaggerated upward movement that is watched for during weight bearing. Additionally, horses with a hind limb lameness will tend to reduce the degree of leg use. To do so, some horses will reduce the contraction time of the gluteals on the side of the lame leg, leading to a "hip roll" or "hip dip" and appearance that the hip drops a greater degree on the side of the lame leg.[10]
These apparently contradictory statements ("hip hike" vs "hip drop" on the lame leg) can be explained by when the horse perceives pain during the stride. If the pain is perceived during the early stance phase of the stride, the horse will try to unweight the leg and produce a "hip hike." If the pain is perceived during the pushoff phase of the stride, the horse does not push with as much force, subsequently reducing the height the pelvis is raised, and leading to a "dipping" motion during the swing phase of the stride as the horse brings the limb forward. In some cases, both a hip hike and a hip drop can be seen in the same horse.[11] Some practitioners simply look for the side with the greater overall deviation, which occurs in the lame leg[2][10]
Another method to detecting hind limb lameness requires watching the pelvis from the side. The entire pelvis is evaluated, and its relative position vertically (relative to the ground) is compared at various points in the stride. The pelvis normally rises and falls with each step. Horses with pain during the early stance phase of the trot will not allow the pelvis to drop as much when the lame leg is weighted, trying to avoid extra weight on the painful leg. Subsequently, the pelvis will not fall as much downward when the lame leg is bearing weight as when the sound leg is bearing weight. When viewed from behind, this is seen as a "hip hike." If the horse is more painful as it is pushing off a limb, it will not push off with as much force, and the pelvis will rise less on the lame side relative to the same point of the stride when the sound leg is on the ground. This is seen as the "hip roll" when viewed from behind.[11]
Other signs that indicate hind limb lameness include "plaiting" with the hind feet, which can be seen in cases of sacro-iliac pain,[12] carrying the hindquarters to one side or drifting in one direction,[10][13] decreased impulsion,[13] and the saddle slip to one side.[14]
### Other signs of lameness[edit]
Several other signs are applicable to both front and hind limb lameness. One method is to look at the relative time a leg spends in the cranial (forward) phase of the stride. For a front leg, this is when the lower leg is in front of the horse, i.e. angled forward, while the caudal phase is when the leg is underneath the horse, i.e. angled backward. For a hind leg, the cranial phase occurs when the lower leg is under the body of the horse, and the caudal phase is when the limb is out behind the body of the horse.
A normal horse with have a cranial phase and a caudal phase of equal length: the horse will bring the leg as far forward as it does backward. In a lame horse, the cranial phase will be shorter when compared to the caudal phase, so it appears to spend more time with the leg backward than it does forward. A shortened cranial phase is most commonly seen in cases of bilateral lameness, lameness of the upper limb (such as shoulder or hip pain), and osteoarthritis of the hocks.[10][15][16]
Decreased fetlock drop during the stance phase of the stride may be seen in cases of lameness, with the lamer leg producing less drop than the sound leg as the horse tries to relieve weight on the painful limb.[17] Decreased height to the stride (flight arc), or dragging of the toes, also indicates lameness, as the horse avoids bending its joints.[12][13][18] In the front limb, decreased flight arc is usually seen in cases of shoulder, knee, or fetlock joint pain, and is often associated with reduced cranial phase and lengthened caudal phase of the stride.[10] At times, lameness may be heard.[10] Usually the horse has a stronger, louder sound on the beat where the sound hooves hits the ground, but a softer, less resonate sound occurring on the beat where the lame leg is hitting the ground. Again, this is because the horse is landing with less force as it tries to avoid weighting the painful leg.
Lastly, behavioral changes and decreased performance may indicate pain, even if obvious clinical lameness is not evident.[13]
## The lameness evaluation[edit]
A lameness exam is used to try to pinpoint the cause of lameness in the horse, which subsequently guides treatment. It is the first step to evaluate decreased performance in an equine athlete, even if the horse does not appear overtly lame, to rule out any pain-associated cause.
Lameness exams are also a key component of the pre-purchase examination. These examinations evaluate the horse to give the potential buyer information regarding present soundness of the horse. Veterinarians may comment on aspects that could inhibit the use of the horse for the buyer's intended activity, such as subclinical osteoarthritis or conformational defects. However, the veterinarian is not there to "pass" or "fail" a horse, but only to give their impression of the horse on that day.[10] Therefore, pre-purchase examinations make no guarantees of the future health or soundness of the horse. The pre-purchase exam may range in scope depending on the desire of the buyer, from a simple examination with hoof and flexion tests, to multiple radiographs, ultrasound, and advanced imaging techniques including MRI.
### History[edit]
A detailed history is the first step of a lameness exam.
1. Age: Foals are more likely to have infectious causes of lameness (septic arthritis). Horses just starting training may be lame due to a developmental orthopedic disease, such as osteochondrosis. Older animals are more likely to experience osteoarthritis.[10]
2. Breed: Breed-specific diseases, such as hyperkalemic periodic paralysis (HYPP), can be ruled out. Additionally, some breeds or types are more prone to certain types of lameness.
3. Discipline: Certain lamenesses are associated with certain uses. For example, racehorses are more likely to have fatigue-related injuries such as stress fractures and injury to the flexor tendons, while western show horses are more likely to suffer from navicular syndrome and English sport horses are more likely to have osteoarthritis or injury to the suspensory ligament.[10]
4. Past history of lameness: An old injury may be re-injured. In the case of progressive disease, such as osteoarthritis, a horse will often experience recurrent lameness that must be managed. Shifting lameness may suggest a bilateral injury or infectious cause of lameness.
5. Duration and progression the lameness: Acute injury is more common with soft tissue injury. Chronic, progressive disease is more common in cases such as osteoarthritis and navicular disease.
6. Recent changes in management: such as turn-out, exercise level, diet, or shoeing.
7. Effect of exercise on degree of lameness.[10]
8. Any treatment implemented, including rest.[10]
### Physical examination and palpation[edit]
Splints can be palpated on physical examination.
One of the first steps of the lameness examination is to evaluate the horse at rest. A good evaluation of conformation, including overall body type, can help the practitioner determine the potential cause of lameness. Certain conformational defects can predispose a horse to injury, and knowledge of correct conformation can help narrow down possible causes of injury, especially when combined with the horse's history. The horse's stance is also evaluated. Frequently resting a particular leg, "pointing" a foot (holding a leg out in front of the body), or standing in an abnormal position can indicate compensation for an injury. Shifting of weight is normal in the hind legs, but frequent shifting of weight in the front legs, or placing both front feet in front of the body, can indicate bilateral forelimb lameness.[10] Stifle pain sometimes causes a horse to stand with the stifles rotated out.[13] Hip and pelvic pain can produce a toe-out, stifle out, hock-in stance and that remains present at the walk.[10]
Asymmetry of the muscular structure, due to muscle atrophy, usually occurs on the side of the lame limb. Hind limb lameness or pelvic fracture can cause unilateral atrophy of the middle gluteal or gracilis muscles.[10] Damage to the suprascapular nerve can lead to atrophy of the muscles of the shoulder (supraspinatus and infraspinatus). Neck muscle atrophy can be seen with cervical vertebral malformation (Wobbler's disease), articular facet osteoarthritis, and neurologic causes of lameness.[10] Asymmetry in a limb can also occur due to swelling of a joint or soft tissue. For this reason, each leg should be compared to its partner.
After a visual exam, the practitioner palpates the horse, feeling for heat, swelling, and sensitivity to pressure indicating pain. Palpation is usually most thoroughly performed in the lower limb, but a comprehensive exam will include palpation of the back, pelvis, and neck. Joints should be palpated for pain, effusion of joint pouches, thickening of the joint capsule, and checked for range of motion. Major ligaments and tendons, such as the superficial and deep digital flexor tendons, inferior check ligament, suspensory ligament, and distal sesamoidean ligaments, should also be palpated along their entire length. Individual bones may be palpated if injury is suspected, such as a fracture, bucked shins in racehorses (cannon bones), or splints (splint bones).[10]
Specialized manipulative tests can be used to help identify specific areas of pain:
* The Churchill test: pressure is applied to the plantar surface of the head of the medial splint bone. A painful horse will flex and abduct the limb, indicating hock pain.[10]
* Peroneus tertius rupture: The hock is pulled into extension while the stifle is flexed. A positive test (the ability to extend the hock) indicates a ruptured peroneus tertius muscle.[10]
* Patella displacement: the patella is pushed laterally and proximally, to test for upward fixation of the patella.[10]
* Cruciate test: the examiner moves the tibia sharply caudally, to feel for movement away from the femur or crepitus. Excessive movement can indicate cruciate rupture.[10]
* Test for stifle collateral ligament damage: the stifle is held still, while the distal limb is abducted (to test for damage to the medial collateral ligament) or adducted (to test for lateral collateral ligament damage). Excessive movement by the distal limb relative to the stifle suggests rupture of the collateral ligament. Sprain of these ligaments can be evaluated by repeating this test multiple times, before trotting the horse off an looking for lameness.[10]
### Evaluation of the hoof[edit]
The majority of lameness originates in the hoof. For this reason, the hoof is closely scrutinized in shape, balance, shoeing, wear pattern, and for the presence of cracks, and contracted or sheared heels.
Chronic lameness often causes an upright hoof capsule.
Chronic lameness will change the shape of the hoof capsule, since the lame limb is not weighted as much as its partner, making the capsule more upright, narrow, with a higher heel on the lame limb and more flattened on the sound one.[10] Hoof or horseshoe wear can indicate breakover and if the horse is dragging its toes. Change in shape of the hoof wall is also common in horses suffering from laminitis. "Founder rings," or thickened concentric rings in the hoof wall, indicate a past episode of laminitis. Concavity of the dorsal (front) surface of the hoof can indicate chronic laminitis. The sole may become convex if the coffin bone begins to push through the bottom of the hoof.[19]
Correct hoof balance allows for even distribution of forces through the leg and hoof. Poor hoof balance, due to conformational flaws or poor trimming, can cause lameness from musculoskeletal injury,[20] and poor hoof balance has been associated with increased risk of catastrophic injury in racehorses.[21] Side-to-side (mediolateral) imbalance can cause sheared heals and hoof cracks.[22] The hoof angle, or the angle of the hoof wall relative to the pastern, has been associated with health of the soft tissues of the lower leg. Long toes force the horse to pivot (break over) further forward over the toe. The toe acts as a lever arm, and its increased length makes it harder for the heels to rotate off the ground. This increases strain on the deep digital flexor tendon and the ligaments of the navicular bone.[10]
An abscess has ruptured out of the coronary band of this horse.
The bottom of the hoof should also be examined. The shape of the sole, size of the frog, and shape of the bars can indicate overall health of the hoof. Holes in heel bulb usually indicate a hoof abscess that has ruptured.[10] The horse's shoeing can also provide clues to the examiner. The application of corrective shoes or pads may indicate past problems requiring special shoeing. This can be especially helpful during the pre-purchase exam, when the lameness history of the horse may not be readily available.
Digital pulse evaluation is important when addressing the hoof. An increased digital pulse often indicates that the lesion is in the foot, and are usually most significantly increased in horses with laminitis. The coronary band may also be palpated. Cool swelling can indicate coffin joint effusion, swelling with an increase in temperature can indicate laminitis, firm swelling can occur with ringbone, and a localized swelling with pain can indicate an abscess.[10]
Examiners will also "hoof test" each foot by applying a metal instrument that squeezes the foot to test for deep pain. Diffuse sensitivity occurs with fracture or infection of the coffin bone, and laminitis. More localized sensitivity can be found with sole bruises, puncture wounds, hoof abscesses, and hot nails. Sensitivity over the middle third of the frog is consistent with navicular syndrome, but can also occur with sheared heels. To distinguish these two, the hoof testers may be applied over the heels, which will be sensitive in the case of any heel-related pain, such as sheared, contracted, or bruised heels.[10] The hoof wall may also be percussed (struck with a hammer), which will produce a positive response in cases of hoof cracks that are causing the horse pain, laminitis, or a gravel (hoof abscess travelling up the hoof wall towards the coronary band).[10]
### Evaluation in motion[edit]
Horses are usually trotted on a straight line to evaluate lameness.
The horse is evaluated in motion, usually at the walk and trot, but occasionally also in the canter. The walk is often the best gait to evaluate foot placement.[10] The trot is generally the best gait to localize the lameness to a particular leg, because it is a symmetrical gait where the front half of the horse and the back half move in unison.[11] The canter may also be used for lameness evaluation. Resistance to picking up the canter or to engage the hind end can suggest pain in the sacro-iliac joint, pelvis, or hind leg.
Lameness may be accentuated under certain conditions. Therefore, the moving examination is often performed both in a straight line and on a circle, and may be repeated on different footings. Hard footing tends to make joint and bone injury more apparent, while soft, deep footings tend to accentuate soft tissue injury. Circles may accentuate a lameness when the lame leg is on the inside or outside of the circle.[13][23]
At times, it may be helpful to evaluate the horse under saddle, since the weight of the rider can accentuate lameness.[13] In cases of decreased performance, it can be useful to watch a horse performing certain discipline-specific movements, which may be the only time the rider notices a change in the horse's abilities.
Gait is evaluated for symmetry. This includes the overall fluidity of the horse's motion, length of stride, loading of a leg, how the hoof lands on the ground (flat, toe, or heel-first), range of motion of the joints, deviations in body position, and position of the head and neck.
The first evaluation of the horse is used to determine the severity of lameness and to help pinpoint which part of the body may be affected. The process of watching a horse move is repeated after each additional flexion test or nerve block to determine its effect on the animal.
### Grading lameness[edit]
Lameness is graded on a scale. This allows the practitioner to help quantify a lameness in order to determine relative severity, assess the degree of change after flexion tests or nerve blocks, and to determine the improvement of lameness over time once treatment has been implemented. The most commonly used scale in the United States is a 1–-5 scale of the American Association of Equine Practitioners (AAEP). Other scales are more commonly used outside of the United States, including a 1–10 scale in the United Kingdom.[24]
AAEP Lameness Grading Scale
* Grade 0: lameness is not perceptible under any circumstances
* Grade 1: lameness is difficult to observe and not consistently apparent under any circumstances
* Grade 2: the lameness is consistently apparent under certain circumstances (specific surfaces, on an incline, circling, under saddle, etc), but difficult to observe at a walk or trot on a straight line
* Grade 3: the lameness is consistently apparent at the trot under all circumstances
* Grade 4: the lameness is apparent at the walk
* Grade 5: the horse is minimally or non-weight bearing on the limb, or unable to move
Non-weight bearing lameness (grade 5) is most commonly the result of a hoof abscess. While very painful, most hoof abscesses are quite treatable and do not cause long-term lameness. However, fractures and septic synovial structures (such as an infected joint pouch or tendon sheath) can also cause non-weight bearing lameness, and require emergency evaluation and treatment by a veterinarian. Therefore, non-weight bearing lameness should be assessed by an equine professional in a timely manner, especially if it is associated with trauma, laceration, or recent joint injection.
### Flexion tests[edit]
Main article: Flexion test
Flexion tests are a diagnostic tool involving the application of sustained pressure on a particular set of joints. The limb is forcibly flexed for between 30 seconds and 3 minutes,[25] depending on the joint and practitioner preference, and the horse is immediately trotted off. An increase in lameness following a flexion test suggests that those joints or surrounding soft tissue structures may be a source of pain for the horse. Flexion tests help narrow down the source of lameness to a certain part of the leg, but they are non-specific because they almost always affect more than one joint and because they also affect the soft tissue structures around the joint, not just the joint itself.[10] Additionally, they must be interpreted carefully due to the risk of false negatives and false positives.
### Regional limb anesthesia (nerve blocks)[edit]
Nerve blocks involve injecting a small amount of local anesthetic around a nerve or into a synovial structure (such as a joint or tendon sheath) in order to block the perception of pain in a specific area. After the substance is injected, it is given a few minutes to take effect. The block is then tested by pushing a blunt object, such as a ballpoint pen, into the area that is supposed to be desensitized. If the horse does not react to this pressure, the area is desensitized, and the horse is trotted to see if the lameness has improved. Improvement indicates that the cause of lameness was from a structure desensitized by the nerve block.
Nerve blocks are performed in a step-wise fashion, beginning at the most distal (lower) part of the limb and moving upward. This is due to the fact that blocking a nerve higher up will desensitize everything it innervates distal to the blocking location. For example, blocking the leg at the level of the fetlock will also block the entire foot, since the nerve fibers that innervate the foot are inhibited when they travel through the fetlock area. A positive result from this block will not be able to differentiate foot pain from pain in the pastern or fetlock region. More information may be gained from blocking the foot first, then the fetlock, since it allows for greater specificity in determining the cause of lameness.
The duration of the anesthetic varies depending on the substance used. Lidocaine is especially short acting, and is therefore usually not used for lameness evaluations. The longer-acting anesthetic mepivacaine is most-commonly used for nerve blocks,[26][27] because ideally the block should last throughout the lameness exam to avoid false positives with subsequent blocks as they are performed up the leg. Bupivicaine is very long-lasting (up to 4–6 hours),[10] and is most commonly used for analgesia following surgery rather than for nerve blocks.
Although nerve blocks are very important to the lameness examination, they are not foolproof. Multiple studies have shown that the anesthetic can migrate,[28][29][30] especially if the horse is evaluated long after blocking or if a large amount of anesthetic is used. If the anesthetic migrates to the structure that is causing the horse pain, the horse will have a positive block, and the examiner will conclude that the lameness originates in an area that is not actually causing the horse discomfort. False results can also be secondary to practitioner error if the anesthetic is accidentally administered into a location that was unintended, such as a synovial structure rather than around a nerve. Additionally, individual horses have variation in their neural anatomy, and if atypical patterns are present, a given block may block an area unintended by the examiner, leading to false positives.[31] Joints present additional problems. A large volume of anesthetic placed into a joint can diffuse out over time, blocking the surrounding structures.[32] Additionally, there are some cases where joint pain can respond better to perineural blocking rather than blocking of the joint.
### Objective Lameness Detection and Localization[edit]
There is relatively low agreement between practitioners trying to identify a lame leg when lameness is mild using subjective visual cues.[33][34] Additional methods of detection and quantification of lameness can therefore be helpful. Several systems are in use and under development for this purpose, both in research and clinical practice. Among these are the Lameness Locator system based on uniaxial accelerometers, the Equigate system based on six degrees of freedom inertial measurement units,[35] the Equinalysis system,[36] and the motion capture based Qhorse system [37]
## Diagnostic tests[edit]
### Radiographs and Ultrasound[edit]
Radiographs are commonly used to evaluate lameness in the lower limb.
The most common forms of diagnostic imaging for use during a lameness exam are radiographs ("x-rays"), to evaluate bone and joint lesions, and ultrasound, to evaluate soft tissue lesions. These modalities are best applied if the general location of lameness is known from flexion tests and nerve blocks. These methods are both non-invasive and relatively cheap.
Radiographs ("x-rays") are made by photons, produced by a generator, that have hit a piece of x-ray film. This film is then exposed to produce an image. The photons that hit the film are actually those that have been reflected, rather than absorbed, by the animal's body. Different tissue types absorb photons to varying degrees, leading to differing levels of darkness (radiodensity) on the x-ray film. An anatomical structure is delineated by comparing its radiodensity those tissues surrounding it. Interpretation of a radiograph therefore requires the surrounding structures to have enough of a difference in radiodensity to allow it to stand out. While this is obvious in tissue such as bone, soft tissues of the leg do not stand out well on radiographs. Therefore, radiographs are best used to evaluate boney changes rather than soft tissue damage. One exception of this rule is the use of contrast, injected into synovial structures, which allows these structures to stand out on radiographs.[38] Common uses for radiographs are to evaluate for suspected fractures, bone chips, laminitis, and navicular changes.[39][40]
Ultrasound measures the reflection of high frequency sound waves off of tissues. Different tissues absorb or reflect ultrasonic waves to different degrees, which may be picked up by the machine and turned into an image. Because ultrasound does not easily cross bone or air, it is best used for the evaluation of soft-tissue structures. It is therefore a complementary imaging modality to radiographs, and is most commonly used to look for injury to ligaments and tendons, and the navicular bursa, although muscle damage and arterial blood flow have also been evaluated with ultrasound in cases of lameness.[41] Ultrasound is especially useful for determining the size and shape of lesions within structures, allowing quantification of an injury. Ultrasound may be used after diagnosis, to monitor the progression of healing of a lesion.[42] It is also used to guide injections of treatments (steroids, stems cells, platelet rich plasma) directly into a lesion.[43]
### Nuclear Scintigraphy[edit]
Nuclear scintigraphy, or the "bone scan," involves injecting a radioactive substance, often technetium-99,[44] into the horse and then measuring uptake, which is strongest in the areas of rapid bone remodeling. The bone scan is often useful for lameness that can't be easily localized to one area, that affects multiple limbs, or lameness that is thought to originate in areas not easily imaged by other means, such as the vertebral column. Although it provides localization for lameness, it does not give a definitive diagnosis.[45] The availability of this modality is more limited relative to radiographs and ultrasound, and usually requires referral to a secondary care facility. Additionally, the horse must stay for a short period of time until it is no longer radioactive. It is relatively non-invasive, requiring an initial injection of the radioisotope, and sedation throughout the procedure.
The bone scan offers several advantages over traditional radiographs. In some cases, it may be more sensitive due to the fact that some lesions are only apparent on radiographs after they have become chronic. The bone scan allows imaging of the pelvis, vertebral column, and upper limbs, which are areas that are usually poorly imaged by radiographs on the adult horse, due to their size. It also allows some evaluation of soft tissue, which is generally not imaged well by radiographs.[46]
### Computed Tomography[edit]
Computed tomography (CT) is an imaging modality that produces a 3-dimensional radiograph. A series of plain radiographs are taken in a spiral around the site of interest, and the individual 2-D radiographs are converted into a 3-D image by a computer. The image may be manipulated to view in different planes, such as cross-section, making it possible to see an injury from multiple perspectives and improving diagnostic capabilities when compared to plain radiographs. Like plain radiographs, CT is not as useful for soft tissue lesions when compared to boney lesions. However, CT requires general anesthesia, and is more costly and less available than plain radiographs, limiting its use in general practice.[47] CT provides a large amount of data with exceptional speed, taking only seconds to minutes to complete. When compared to MRI, it is not only significantly faster (MRI takes 1–2 hours to produce an image), but also less expensive. Its combination of speed and imaging capabilities makes it beneficial for use prior to orthopedic surgery, especially in the case of complicated fractures, as it allows for visualization from all sides so that the surgeon may determine the best approach and method of correction prior to cutting.[48] Upon completion of the CT, the horse may be rolled straight into the surgery suite for immediate surgical treatment. Advances in technology now also allows for a robotic scanner to rapidly image different parts the standing horse without the need for general anesthesia.[49]
### Magnetic Resonance Imaging (MRI)[edit]
Magnetic Resonance Imaging (MRI) produces a 3-dimensional image that allows for exceptional evaluation of soft tissue structures, as well as the detection of boney change and the presence of excessive fluid accumulation associated with inflammation. Like CT, an MRI image may be viewed in various planes of orientation, improving visualization of anatomic structures and any associated pathologic change. MRI is considered the gold standard for diagnosing soft tissue injury within the foot.[50][51] While it can provide a definitive diagnosis in cases where other imaging modalities have failed, it does have several limitations. Available magnet size restricts imaging to the level of the stifle or elbow, or below. MRI takes a significant amount of time acquire an image, which translates to long anesthesia times and therefore reduces the size of the area that may be imaged in a single session. The area thought to be associated with lameness must be placed in the MRI. MRI is therefore inappropriate for any lameness that can not be localized to a specific region of the limb. Additionally, MRI has limited availability and high cost compared to the other imaging modalities.
Horses may undergo standing MRI, where the horse is sedated and imaged with a low-field magnet (0.27 Tesla), or it may be placed in a high-field magnet (1.5 or 3 Tesla) while under general anesthesia. Low-field magnets produce less resolution[52] and the subtle swaying of the standing horse leads to motion artifact (blurring of the image), especially in the case of the knee or hock, leading to reduced image quality. However, standing MRI tends to be cheaper, and it eliminates the risks of general anesthesia, such as further damage to the injured area or additional injury that may occur during anesthetic recovery.
### Thermography[edit]
Thermography, or thermal imaging, measures the heat gradient of skin by detection of infrared radiation. Because heat is a cardinal sign of inflammation, thermal imaging can be used to detect inflammation that may be the cause of lameness, and at times discover a subclinical injury.[53] When used, horses must be placed in an area free of sunlight exposure, drafts, or other sources of outside heat, and hair length should be uniform in the area imaged. Benefits include non-invasiveness and the potential for early identification[54] of injury, and detection of early contralateral limb injury in the case of orthopedic patients.[55]
### Blood or synovial fluid testing[edit]
Infection of synovial structures, such as in fistulous withers, should be cultured.
Blood and synovial fluid may be tested for pathogens in the case of infected synovial structures. Both cytology and bacterial culture can be used to help identify the cause of infection. In adult horses, septic arthritis or tenosynovitis are most commonly seen secondary to joint injection, penetrating injury, or following surgery, and are often from Staphylococcus infection.[56] Foals often develop septic arthritis secondary to systemic infection and hematogenous spread to the joints.[57]
### Arthroscopy[edit]
Arthroscopy involves placing a small camera through a hole into a joint or other synovial structure. It requires general anesthesia, but allows thorough visualization of the synovial membrane and articular cartilage. Treatment may often be performed at the same time. Arthroscopy is most commonly used for chip fractures of the knee and fetlock joints, osteochondritis dessecans lesions, and proliferative synovitis.[58]
### Body-Mounted Inertial Sensor Systems[edit]
Inertial Sensor Systems (ISS) generally refer to wireless inertial sensors (accelerometers and gyroscopes) transmitting precision movement data back to a computer. Asymmetry of motion can be measured using ISS attached to the horse's body. A computer application then quantifies lameness by measuring the asymmetry of movement between left and right sides of the body.[59] Some more sophisticated computer applications are able to determine the limb or limbs involved and the point in the stride cycle that the horse is differentially unloading the limb.
## Treatment[edit]
Main article: Treatment of equine lameness
Appropriate treatment for lameness depends on the condition diagnosed, but at a minimum it usually includes rest or decreased activity and anti-inflammatory medications. Other treatment options, such as corrective shoeing, joint injections, and regenerative therapies, are pursued based on the cause of lameness and the financial limits of the owner. Consultation with a veterinarian is generally recommended, even for mild cases, as some types of lameness may worsen if not properly diagnosed and treated.
## Horseman’s terms for lameness or blemishes[edit]
Various horseman's terms have evolved over the years to describe common lamenesses or blemishes (defects that do not cause lameness) in horses.
* Bog spavin: excessive synovial fluid in the tarsocrural joint, which leads to a large, soft, cool distention on the dorsal surface of the hock.[60]
* Bone spavin: osteoarthritis of the distal hock joints, which produces lameness and is sometimes seen as a visible, hard swelling on the inside of the hock joint.[61]
A horse with bowed tendons.
* Bowed tendon: tendinitis of the superficial or deep digital flexor tendons, which leads to a "bowed" appearance when the tendon is seen in profile. Considered a lameness when acute, and a blemish once healed, although the tendon is at greater risk for re-injury.
* Bucked shins: pain, heat, and swelling over the dorsal surface of the cannon bone most commonly seen in racehorses. This complex disease process, called "dorsal metacarpal disease," involves inflammation of the periosteum, subperiosteal hematoma, and microfractures to the cortex of the underlying bone.[62]
Capped hocks.
* Capped joint: Inflammation leading to the development of a "false" or acquired bursa over the point of the elbow (capped elbow, also known as a "shoe boil"), point of the hock (capped hock), or knee (capped knee, or carpal hygroma) which causes an obvious swelling in the area.[10] These are generally considered blemishes.
* Curb: a thickening or bowing on the caudal surface of the calcaneous. Classically associated with damage to the long plantar tarsal ligament of the hock,[10] it is actually most commonly due to injury to the superficial digital flexor tendon, but may also involve the deep digital flexor tendon, or the surrounding soft tissue structures.[63]
* Founder (laminitis): a very painful condition resulting from the inflammation of the laminae within the hoof, leading to rotation of the coffin bone.
* Navicular disease or navicular syndrome: a catch-all phrase used to describe pain in the palmar hoof which was originally attributed to damage to the navicular bone. MRI has since shown that navicular syndrome may be caused by damage to any of the structures within the hoof, including the navicular bone, the navicular bursa, the coffin joint, the deep digital flexor tendon, and various ligamentous supportive structures.[64]
* Osselets: swelling on the front surface of the fetlock joints of the front legs, caused by traumatic arthritis of the fetlock joints.[65]
* Ringbone: boney proliferation around the pastern. May be articular (osteoarthritis) or non-articular. The articular forms can affect the pastern or coffin joints, and can cause lameness.
* Shoe boil: see "capped joint"
* Sidebone: ossification of the collateral cartilages of the hoof secondary to chronic concussion, may be palpated on just above the coronary band on either side of the hoof. Rarely causes lameness, therefore considered a blemish.[10]
* Splints: bony enlargements in the area of the splint bone, most commonly on the inside of the front leg, but sometimes on the outside of the front leg or on a hind leg. They are caused by trauma to the split bone itself or the ligament between the splint bone and cannon bone. Acutely, there may be no visible swelling but the horse will be painful on palpation, and lame. Once healed, the boney swelling is cool to the touch and considered a blemish.[10]
* Stocking up: Edema (fluid) retained in the lower legs due to reduced lymphatic drainage, often because the horse is sedentary for long periods (such as when stalled) but occasionally due to pathology. It is cool to the touch, and usually decreases or resolves with exercise. It is considered a blemish.
* Sweeney (shoulder sweeny): a loss of muscle of the shoulder. It is due to atrophy of the supraspinatous and infraspinatus muscles, secondary to damage to the suprascapular nerve, which innervates these muscles.[66] It is usually caused by trauma, and is relatively rare in present day.
* Thoroughpin: effusion in the deep digital flexor tendon sheath, producing a small fluid swelling in the depression just front of the calcaneous. It is proximal to the tarsocrural joint, which helps distinguish it from bog spavin.[10]
* Windpuffs (wind galls): cool, soft effusions in the area of the fetlock joint. May be "articular windgalls," which are the result of excessive synovial fluid in the fetlock joint capsule and located on the inside and outside of the fetlock, just behind the bones of the joint. Swelling towards the back of the joint are "tendonous windgalls," and are the result of effusion in the deep digital flexor tendon sheath. Windgalls are considered blemishes.
## See also[edit]
* Equine conformation
* Skeletal system of the horse
* Equine anatomy
* Horse hoof
* Horse care
* Flexion test
* Equine prepurchase exam
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## External links[edit]
* Laminitis information
* Various leg ailments
*[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
| Lameness (equine) | c0022976 | 29,568 | wikipedia | https://en.wikipedia.org/wiki/Lameness_(equine) | 2021-01-18T18:44:35 | {"mesh": ["D007794"], "wikidata": ["Q1428918"]} |
Congenital fusion of the first and second ribs
Srb's anomaly
Differential diagnosisKlippel–Feil syndrome
Srb's anomaly is the clinical condition describing synostosis, or fusion, between the first and second ribs.[1][2] It may be either a partial or complete fusion between the two ribs to create an entirely indistinguishable new rib.[3]
Srb's anomaly is commonly seen in people with Klippel–Feil syndrome.[4]
## References[edit]
1. ^ Yochum, Terry R. (2004). essentials of skeletal radiology. Lippincott Williams & Wilkins. p. 319. Retrieved 25 January 2018.
2. ^ Standen, Clive (2017). Textbook Osteopathic Medicine (in German). Elsevier Health Sciences. p. 483. ISBN 9780702052668. Retrieved 25 January 2018.
3. ^ Mann, Robert W.; Hunt, David R.; Lozanoff, Scott (2016). Photographic Regional Atlas of Non-Metric Traits and Anatomical Variants in the Human Skeleton. Charles C Thomas Publisher. p. 555. ISBN 9780398091033. Retrieved 25 January 2018.
4. ^ Marchiori, Dennis (2004). Clinical Imaging - E-Book: With Skeletal, Chest and Abdomen Pattern Differentials. Elsevier Health Sciences. ISBN 0323071279. Retrieved 25 January 2018.
This article about a congenital malformation 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
| Srb's anomaly | None | 29,569 | wikipedia | https://en.wikipedia.org/wiki/Srb%27s_anomaly | 2021-01-18T18:51:35 | {"wikidata": ["Q48972084"]} |
Struma ovarii
Micrograph of a struma ovarii. Characteristic thyroid follicles are seen on the right, and ovarian stroma on the left. H&E stain.
SpecialtyOncology
A struma ovarii (literally: goitre of the ovary) is a rare form of monodermal teratoma that contains mostly thyroid tissue, which may cause hyperthyroidism.[1]
Despite its name, struma ovarii is not restricted to the ovary.
The vast majority of struma ovarii are benign tumours; however, malignant tumours of this type are found in a small percentage of cases.[2]
## Contents
* 1 Radiologic findings
* 2 Additional images
* 3 See also
* 4 References
* 5 External links
## Radiologic findings[edit]
The ultrasound (US) features of struma ovarii are nonspecific, but a heterogeneous, predominantly solid mass may be seen. US demonstrates a complex appearance with multiple cystic and solid areas, findings that reflect the gross pathologic appearance of the tumor.
Magnetic resonance imaging findings may be more characteristic: The cystic spaces demonstrate both high and low signal intensity on T1- and T2-weighted images. Some of the cystic spaces may demonstrate low signal intensity on both T1- and T2-weighted images due to the thick, gelatinous colloid of the struma. No fat is evident in these lesions.[3]
## Additional images[edit]
* Low mag.
* High mag.
## See also[edit]
* Strumal carcinoid
* Teratoma
## References[edit]
1. ^ Kim D, Cho HC, Park JW, et al. (March 2009). "Struma ovarii and peritoneal strumosis with thyrotoxicosis". Thyroid. 19 (3): 305–8. doi:10.1089/thy.2008.0307. PMID 19265502.
2. ^ Struma Ovarii at eMedicine
3. ^ Outwater EK, Siegelman ES, Hunt JL, et al. (Mar–Apr 2001). "Ovarian teratomas: tumor types and imaging characteristics". Radiographics. 21 (2): 475–90. doi:10.1148/radiographics.21.2.g01mr09475. PMID 11259710.
## External links[edit]
Classification
D
* MeSH: D013330
* DiseasesDB: 33030
External resources
* eMedicine: article/256937
* v
* t
* e
Germ cell tumors
Germinomatous
* Germinoma
* Seminoma
* Dysgerminoma
Nongerminomatous
* Embryonal carcinoma
* Endodermal sinus tumor/Yolk sac tumor
* Teratoma: Fetus in fetu
* Dermoid cyst
* Struma ovarii
* Strumal carcinoid
* Trophoblastic neoplasm: Gestational trophoblastic disease
* Hydatidiform mole
* Choriocarcinoma
* Placental site trophoblastic tumor
* Polyembryoma
* Gonadoblastoma
* v
* t
* e
Tumours of endocrine glands
Pancreas
* Pancreatic cancer
* Pancreatic neuroendocrine tumor
* α: Glucagonoma
* β: Insulinoma
* δ: Somatostatinoma
* G: Gastrinoma
* VIPoma
Pituitary
* Pituitary adenoma: Prolactinoma
* ACTH-secreting pituitary adenoma
* GH-secreting pituitary adenoma
* Craniopharyngioma
* Pituicytoma
Thyroid
* Thyroid cancer (malignant): epithelial-cell carcinoma
* Papillary
* Follicular/Hurthle cell
* Parafollicular cell
* Medullary
* Anaplastic
* Lymphoma
* Squamous-cell carcinoma
* Benign
* Thyroid adenoma
* Struma ovarii
Adrenal tumor
* Cortex
* Adrenocortical adenoma
* Adrenocortical carcinoma
* Medulla
* Pheochromocytoma
* Neuroblastoma
* Paraganglioma
Parathyroid
* Parathyroid neoplasm
* Adenoma
* Carcinoma
Pineal gland
* Pinealoma
* Pinealoblastoma
* Pineocytoma
MEN
* 1
* 2A
* 2B
* v
* t
* e
Tumors of the female urogenital system
Adnexa
Ovaries
Glandular and epithelial/
surface epithelial-
stromal tumor
CMS:
* Ovarian serous cystadenoma
* Mucinous cystadenoma
* Cystadenocarcinoma
* Papillary serous cystadenocarcinoma
* Krukenberg tumor
* Endometrioid tumor
* Clear-cell ovarian carcinoma
* Brenner tumour
Sex cord–gonadal stromal
* Leydig cell tumour
* Sertoli cell tumour
* Sertoli–Leydig cell tumour
* Thecoma
* Granulosa cell tumour
* Luteoma
* Sex cord tumour with annular tubules
Germ cell
* Dysgerminoma
* Nongerminomatous
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma/Struma ovarii
* Choriocarcinoma
Fibroma
* Meigs' syndrome
Fallopian tube
* Adenomatoid tumor
Uterus
Myometrium
* Uterine fibroids/leiomyoma
* Leiomyosarcoma
* Adenomyoma
Endometrium
* Endometrioid tumor
* Uterine papillary serous carcinoma
* Endometrial intraepithelial neoplasia
* Uterine clear-cell carcinoma
Cervix
* Cervical intraepithelial neoplasia
* Clear-cell carcinoma
* SCC
* Glassy cell carcinoma
* Villoglandular adenocarcinoma
Placenta
* Choriocarcinoma
* Gestational trophoblastic disease
General
* Uterine sarcoma
* Mixed Müllerian tumor
Vagina
* Squamous-cell carcinoma of the vagina
* Botryoid rhabdomyosarcoma
* Clear-cell adenocarcinoma of the vagina
* Vaginal intraepithelial neoplasia
* Vaginal cysts
Vulva
* SCC
* Melanoma
* Papillary hidradenoma
* Extramammary Paget's disease
* Vulvar intraepithelial neoplasia
* Bartholin gland carcinoma
This oncology 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
| Struma ovarii | c0038478 | 29,570 | wikipedia | https://en.wikipedia.org/wiki/Struma_ovarii | 2021-01-18T18:33:30 | {"mesh": ["D013330"], "umls": ["C0038478"], "wikidata": ["Q2357409"]} |
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: "Burn scar contracture" – news · newspapers · books · scholar · JSTOR (March 2010) (Learn how and when to remove this template message)
Burn scar contracture is the tightening of the skin after a second or third degree burn. When skin is burned, the surrounding skin begins to pull together, resulting in a contracture. It needs to be treated as soon as possible because the scar can result in restriction of movement around the injured area. This is mediated by myofibroblasts.
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 References
## Diagnosis[edit]
This section is empty. You can help by adding to it. (September 2017)
## Treatment[edit]
Burn scar contractures do not go away on their own, although may improve with the passage of time, with occupational therapy and physiotherapy, and with splinting. If persistent the person may need the contracture to be surgically released. Techniques may include local skin flaps (z-plasty) or skin grafting (full thickness or split thickness). There are also pharmacy and drug-store treatments that can be used to help scar maturation, especially silicone gel treatments. Prevention of contracture formation is key. For instance, in the case of a burned hand one would splint the hand and wrap each finger individually. In the instance of burns on the neck, hyperextension of the neck (i.e. no use of pillows) should be maintained during the healing process. Carbon dioxide laser therapy is now also used to aid in the loosening of surrounding skin, although is yet to form as part of an official global rehabilitation program.
## References[edit]
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[1]
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1. ^ Hariharan N C, Sridhar R, Sankari B, Valarmathy VS, Asirvatham E, Geetha K. "Reconstruction of postburn crippled hands: A study of functional outcome" Indian J Burns 2018;26:9-14.
*[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
| Burn scar contracture | None | 29,571 | wikipedia | https://en.wikipedia.org/wiki/Burn_scar_contracture | 2021-01-18T18:47:42 | {"wikidata": ["Q4999565"]} |
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be 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
| 14q32 duplication syndrome | c4225449 | 29,572 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488280 | 2021-01-23T19:10:42 | {"omim": ["616604"], "synonyms": ["Dup(14)q(32)", "Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication", "Trisomy 14q32"]} |
## Summary
### Clinical characteristics.
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis.
### Diagnosis/testing.
The diagnosis of C9orf72-FTD/ALS is established in a proband with suggestive findings and a heterozygous abnormal G4C2 (GGGGCC) hexanucleotide repeat expansion in C9orf72 identified by molecular genetic testing.
### Management.
Treatment of manifestations: Care is often provided by a multidisciplinary team that includes a neurologist, specially trained nurses, pulmonologist, speech therapist, physical therapist, occupational therapist, respiratory therapist, nutritionist, psychologist, social worker, and genetic counselor.
Surveillance: Routine follow up by multidisciplinary specialists to monitor neurologic findings, mobility and activities of daily living, psychiatric/behavioral manifestations, nutrition and safety of oral feeding, respiratory and bladder function, and needs of affected individuals and care providers for psychosocial support.
### Genetic counseling.
C9orf72-FTD/ALS is inherited in an autosomal dominant manner. Almost all individuals diagnosed with C9orf72-FTD/ALS inherited a C9orf72 G4C2 repeat expansion from a heterozygous parent. In most families the heterozygous parent is affected; however, a heterozygous parent may not have clinical manifestations of the disorder due to age-dependent reduced penetrance. Each child of an individual with C9orf72-FTD/ALS has a 50% chance of inheriting the C9orf72 G4C2 repeat expansion. Once a C9orf72 G4C2 repeat expansion has been identified in an affected family member, prenatal and preimplantation genetic testing for the presence of the C9orf72 G4C2 repeat expansion are possible. (Note: The presence of a C9orf72 G4C2 repeat expansion cannot predict the disease course in any given individual.)
## Diagnosis
In this GeneReview, C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) refers to the spectrum of phenotypes caused by C9orf72 G4C2 pathogenic repeat expansions, also sometimes referred to as the C9orf72 FTD/ALS complex.
### Suggestive Findings
C9orf72-FTD/ALS should be suspected in probands with the following clinical and neuroimaging findings and family history [Van Mossevelde et al 2018, Cammack et al 2019, Moore et al 2020].
#### Clinical Findings
Age at onset ranges from 20 to 91 years, with a mean of 58 ± 8-10 years [Van Mossevelde et al 2017a].
Neurologic findings (See also Table 1.)
* Frontotemporal dementia (FTD), the most common clinical presentation, is characterized by progressive behavioral impairment, decline in executive function, and/or language impairment (see Table 1). Of the three FTD clinical syndromes, behavioral variant FTD (bvFTD) is more often present than the two language variants (collectively identified as primary progressive aphasia [PPA]: semantic variant PPA [svPPA] and non-fluent variant PPA [nfvPPA]).
Manifestations specific to C9orf72-FTD include prominent neuropsychiatric symptoms, such as hallucinations and delusions. Often, some parkinsonian features are present.
* Motor neuron disease includes both the upper and lower motor neuron involvement that characterizes amyotrophic lateral sclerosis (ALS) as well as upper and/or lower motor neuron dysfunction that may or may not fulfill criteria for the full ALS phenotype.
* Atypical presentations mimicking other neurodegenerative disorders
### Table 1.
C9orf72-FTD/ALS: Frequency of Diagnoses Based on Clinical Findings Alone
View in own window
DiagnosisFrequencyComments (Frequency)
FTD34.8%
* Behavioral variant FTD (31.4%)
* Nonfluent/agrammatic variant PPA (1.8%)
* Semantic variant PPA (0.9%)
* Other tauopathy: corticobasal degeneration, progressive supranuclear palsy, other PPA (0.7%)
ALS19.3%
FTD-ALS11.0%
Atypical presentations mimicking other kinds of neurodegenerative brain diseases35.0%
* Alzheimer disease, Parkinson disease, Huntington disease, & dementia w/Lewy bodies are common.
* Also incl vascular dementia & dementia not otherwise specified
* Atypical parkinsonian syndromes 1
Based on Moore et al [2020]
ALS = amyotrophic lateral sclerosis; FTD = frontotemporal dementia; PPA = primary progressive aphasia
1\.
Van Mossevelde et al [2018]
#### Neuroimaging
Brain MRI. The pattern of atrophy in C9orf72-FTD is remarkably symmetric and generalized. Cortical atrophy can be seen in the frontal and temporal regions, also the insular and cingulate regions, as well as more posterior cortical areas. Also notable is involvement of subcortical structures and the cerebellum [Cash et al 2018, Van Mossevelde et al 2018].
Brain FDG-PET. The pattern of predominant frontotemporal hypometabolism is mostly congruent with the atrophy patterns seen on brain MRI; however, FDG-PET abnormalities can usually be detected earlier than suggestive brain MRI findings [Greaves & Rohrer 2019].
CSF biomarkers. Nonspecific abnormalities in Alzheimer disease CSF biomarkers, such as (slightly) increased levels of total tau or decreased levels of amyloid beta 1-42, may or may not be present [Niemantsverdriet et al 2018].
#### Family History
Family history may be positive and consistent with autosomal dominant inheritance (e.g., males and females in multiple generations with ALS, FTD, and/or other manifestations within the C9orf72-FTD/ALS spectrum) or the family history may be negative; absence of a known family history does not preclude the diagnosis. C9orf72 G4C2 repeat expansions are to date the most frequent cause of ALS and FTD in individuals representing simplex cases (i.e., a single occurrence within a family) [Van Mossevelde et al 2018].
Note: Simplex cases are sometimes referred to as "sporadic cases"; however, because the term "sporadic" can imply a non-recurring (non-genetic) cause, the term "simplex" is preferred.
### Establishing the Diagnosis
The diagnosis of C9orf72-FTD/ALS is established in a proband with suggestive findings and a heterozygous abnormal G4C2 (GGGGCC) hexanucleotide repeat expansion in C9orf72 identified by molecular genetic testing [DeJesus-Hernandez et al 2011, Renton et al 2011, Gijselinck et al 2012] (see Table 2).
Note: Pathogenic G4C2 repeat expansions in C9orf72 cannot be detected by sequence-based multigene panels, exome sequencing, or genome sequencing.
Repeat sizes
* Normal. Range from 2 to 24 G4C2 repeats
* Uncertain significance. Range from 25 to 60 G4C2 repeats
* Repeats in this range are rare in the general population and typically do not segregate in families with C9orf72-FTD/ALS.
* The shortest G4C2 repeat identified in white blood cells and reported to cosegregate with the disorder in a family with C9orf72-FTD/ALS was 47 G4C2 repeats [Gijselinck et al 2016]. However, in different brain regions of the individual who was heterozygous for the short expansion, a pool of short and long expansion sizes (>1100 repeat units) was apparent, pointing to somatic mosaicism [Gijselinck et al 2016].
* Pathogenic. Range from 61 to >4000 of G4C2 repeats
Pathogenic expansions >60 to hundreds or thousands of G4C2 repeats show age-dependent reduced penetrance [Murphy et al 2017].
Molecular genetic testing relies on targeted analysis to characterize the number of C9orf72 G4C2 repeats (see Table 8).
### Table 2.
Molecular Genetic Testing Used in C9orf72-FTD/ALS
View in own window
Gene 1Method 2, 3Proportion of Probands with a Pathogenic Variant Detectable by Method
C9orf72Targeted analysis for G4C2 hexanucleotide expansions100%
1\.
See Table A. Genes and Databases for chromosome locus and protein name.
2\.
See Table 8 for specific methods to characterize the number of GGGGCC (G4C2) repeats in C9orf72.
3\.
Note: Sequence-based multigene panels, exome sequencing, and genome sequencing cannot detect pathogenic repeat expansions in this gene.
## Clinical Characteristics
### Clinical Description
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Mean age at onset is usually 50-64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure ALS, or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations (see Table 3). The presence of MND correlates with an earlier age of onset and a worse overall prognosis [Van Mossevelde et al 2018, Moore et al 2020].
Like the age of onset, life expectancy is highly variable and mainly associated with the clinical manifestations.
### Table 3.
C9orf72-FTD/ALS: Frequency of Disease Features
View in own window
FeatureFrequencyComment
Nearly allCommon 1Infrequent
Cognitive deterioration
Executive dysfunction●Problems w/planning, problem solving, organizing
Memory impairment●Amnesia, mostly recent memory
Language impairment●Deficits in speech production or comprehension
Apraxia●Impaired execution of learned motor tasks
Dyscalculia●Diminished mathematical reasoning
Behavioral & psychological manifestations of dementia
Disinhibition●Impulsivity, socially unacceptable behavior, risk taking
Apathy●Indifference, lack of interest
Delusions/hallucinations●Often bizarre delusions, mostly visual hallucinations
Psychosis●Psychosis, often as initial symptom
Anxiety●Generalized stress & apprehension
Repetitive, compulsive behavior●Often complex, ritualistic behaviors mimicking OCD
Preference for sweet food●↑ craving for sweet foods
Motor symptoms
Upper MND●Weakness, spasticity, altered muscle tone
Lower MND●Weakness, fasciculations, atrophy
Bulbar involvementDysarthria●Motor language deficit
Dysphagia●Problems swallowing food &/or liquids
Parkinsonism●Extrapyramidal findings such as resting tremor, rigidity, akinesia
MND = motor neuron disease; OCD = obsessive compulsive disorder
1\.
Features are ranked as common if present in >33%, if frequency was mentioned.
Initial manifestations may be pure FTD or ALS; additional manifestations in the C9orf72-FTD/ALS spectrum may appear during the disease course [Van Mossevelde et al 2018, Moore et al 2020].
#### FTD
The three main FTD clinical syndromes are behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA), and nonfluent/agrammatic variant PPA (nfvPPA). Most individuals with C9orf72-FTD and C9orf72-FTD/ALS present with bvFTD.
Cognitive deficits associated with FTD are mostly early loss of executive functions, memory impairment, and language problems (mostly dynamic aphasia). Other findings, such as parietal lobe involvement (dyscalculia, apraxia), are common as the disease progresses.
C9orf72-bvFTD includes most of the typical bvFTD behavioral changes: early disinhibition, early apathy or inertia, early loss of empathy, as well as repetitive and ritualistic behaviors. Although sweet food preference occurs, it is less common. Other prominent neuropsychiatric symptoms include early delusions and hallucinations, psychosis, and anxiety.
C9orf72-PPA presents with early and prominent language deficits – speech apraxia and frequent grammatical errors in the more common nfvPPA or decreased understanding of language in svPPA.
#### ALS
The entire clinical spectrum of ALS (which includes abnormal muscle tone and tendon reflexes, fasciculations, muscle cramps, and gait disturbances) may be present in C9orf72-ALS and C9orf72-FTD/ALS. Spinal onset (involving limb muscles) is more frequent than bulbar onset (including involvement of swallowing and speech) in C9orf72-ALS (54% vs 39%). Some early cognitive impairment may be present even in individuals who had been diagnosed with pure ALS [Cammack et al 2019]. See Amyotrophic Lateral Sclerosis Overview for a definition of this phenotype.
#### Atypical Presentations
Atypical presentations of the C9orf72-FTD/ALS spectrum mimicking other neurodegenerative brain diseases – including Alzheimer disease, Parkinson disease, Huntington disease (see linked GeneReview chapters for definitions of these phenotypes), and dementia with Lewy bodies – are common. In addition to MND, motor manifestations may also include extrapyramidal signs, most commonly as a symmetric akinetic-rigid syndrome. Clinical diagnoses of atypical parkinsonian syndromes are also relatively common.
A C9orf72 pathogenic G4C2 repeat expansion is seen in fewer than 1% of individuals with clinically diagnosed Alzheimer disease (AD). In most of these individuals, the underlying pathology is frontotemporal lobar degeneration (FTLD) [Murray et al 2011, Dobson-Stone et al 2012, Majounie et al 2012a, Cacace et al 2013, Harms et al 2013, Kohli et al 2013]. Similar observations were made in individuals with clinical Parkinson disease (PD) [Lesage et al 2013, Theuns et al 2014, Wilke et al 2016].
The association of C9orf72 G4C2 pathogenic repeat expansions with AD, PD, and atypical parkinsonian syndromes may be due to relatively common AD or PD co-pathology occurring in an individual with primary C9orf72-related disease. Moreover, most of the studies reporting on this association defined cohorts of affected individuals solely on clinical diagnoses, leaving the possibility of misclassification of an individual with C9orf72-FTD [Lesage et al 2013, Theuns et al 2014, Wilke et al 2016].
A C9orf72 G4C2 repeat expansion was observed in 6.5% of individuals with a diagnosis of depressive pseudodementia [Bieniek et al 2014] and in 2% of Huntington disease phenocopies lacking an HTT CAG trinucleotide repeat expansion [Beck et al 2013, Hensman Moss et al 2014].
Rarely, C9orf72-related corticobasal syndrome, progressive supranuclear palsy, and olivopontocerebellar degeneration have also been reported [Snowden et al 2012, Lesage et al 2013, Lindquist et al 2013, Schottlaender et al 2015, Wilke et al 2016, Bourinaris & Houlden 2018, Cali et al 2019].
#### Life Expectancy
Life expectancy for individuals with C9orf72-FTD/ALS is highly variable and mainly associated with an individual's clinical features. Overall disease duration averages 6.4 years (range 0-36), which is significantly lower than in individuals with GRN frontotemporal dementia and MAPT frontotemporal dementia [Moore et al 2020].
* For C9orf72-ALS, G4C2 repeat expansions are associated with an average disease duration of 2.9 ± 2.8 years [Cammack et al 2019, Moore et al 2020].
* For C9orf72-FTD, disease duration averages between 7.5 and 14 years, depending on the cohort. As expected, survival in FTD is markedly compromised (on average 1.8 years) when ALS manifestations become apparent [Van Mossevelde et al 2018, Moore et al 2020].
### Genotype-Phenotype Correlations
Heterozygous expanded G4C2 repeats. Clinical findings cannot predict the presence or size of a C9orf72 G4C2 repeat expansion, nor can the presence of a G4C2 repeat expansion predict the disease course in any given individual.
Biallelic expanded G4C2 repeats. To date, one individual homozygous for an expanded C9orf72 G4C2 repeat has been reported. This individual (whose parents were consanguineous) was homozygous for >800 G4C2 repeats and presented with early-onset bvFTD at age 43 years followed by rapid deterioration that was nonetheless within the range of the usual disease spectrum [Fratta et al 2013].
Another individual, compound heterozygous for two expanded alleles (one with ±50 G4C2 repeats and one with >2000 G4C2 repeats), had onset age of 58 years of bvFTD associated with parkinsonism [Cooper-Knock et al 2013].
### Penetrance
Heterozygosity for a pathogenic C9orf72 G4C2 repeat expansion is associated with age-dependent reduced penetrance, with the youngest individuals developing disease in their twenties and a small number of heterozygotes remaining asymptomatic in their nineties. Age-dependent penetrance is estimated as follows [Benussi et al 2015, Murphy et al 2017]:
* ~0% at age 35 years
* 50% at age 58 years
* Near 100% at age 80 years
### Anticipation
A decreasing age of onset in consecutive generations of family members heterozygous for a C9orf72 G4C2 repeat expansion has been reported by some investigators [Van Mossevelde et al 2017b, Moore et al 2020] but not others [DeJesus-Hernandez et al 2011, Renton et al 2011, Barbier et al 2017]. Explanations for this discrepancy could include the following: (1) an apparent earlier age of onset due to observational or recall bias in families experienced with the disorder that prompted earlier medical attention and diagnosis; and (2) technical difficulties as well as age-related and tissue-related issues in correctly sizing the G4C2 repeat (see Molecular Genetics).
Thus, to date, G4C2 repeat size as measured in leukocyte DNA does not provide prognostic information, such as predicted presence or absence of clinical manifestations of C9orf72-FTD/ALS in an individual, or – if manifestations do develop – the age of onset or severity [Van Mossevelde et al 2017a].
### Prevalence
Detailed epidemiologic studies of the prevalence of the C9orf72 G4C2 repeat expansion have not been performed. Based on the estimated prevalence of FTD and ALS in the general population and the frequency of a C9orf72 G4C2 pathogenic repeat expansion in cohorts of individuals with FTD and ALS, the following rough estimates of C9orf72-FTD/ALS spectrum have been calculated.
* With the prevalence of FTD estimated at 1-461:100,000 [Hogan et al 2016] and with an average frequency of 4%-29% of C9orf72 G4C2 repeat expansions in FTD cohorts [Van Mossevelde et al 2018], a rough estimate of C9orf72-FTD is 0.04-134:100,000.
* The prevalence of ALS is estimated at 5-12:100,000. Among individuals with ALS, about 10% have a family history consistent with autosomal dominant inheritance and about 90% have no family history of the disorder [Oskarsson et al 2018, Masrori & Van Damme 2020]. A pathogenic C9orf72 G4C2 repeat expansion is observed on average in 30%-50% of individuals with familial ALS and 4%-10% of individuals with no family history of ALS [Majounie et al 2012b, Oskarsson et al 2018, Masrori & Van Damme 2020].
It is important to note that the frequency of C9orf72 G4C2 repeat expansions greatly depends on ethnicity and geographic region.
* The highest repeat expansion frequencies are observed in individuals of northern European heritage.
* Markedly elevated expansion frequencies were reported in Scandinavian countries [Majounie et al 2012b, Lindquist et al 2013, van der Zee et al 2013, Smith et al 2013].
* By contrast, in Asian populations, expansion frequency is much lower [Majounie et al 2012b, Tsai et al 2012, Konno et al 2013, Zou et al 2013].
* Few studies have investigated the effect of repeat expansions in cohorts of African heritage [Nel et al 2019].
## Differential Diagnosis
The frequency of C9orf72 G4C2 repeat expansions significantly exceeds that of pathogenic variants in any other gene causing frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS).
Family history. The frequency of pathogenic C9orf72 G4C2 repeat expansions is about twice as high in individuals with a family history of FTD and/or ALS compared to those without a family history of these disorders. A C9orf72 G4C2 repeat expansion is found in:
* 25% of familial FTD;
* 30%-50% of familial ALS (Of note, only 10% of individuals with ALS have a positive family history and simplex cases [i.e., a single occurrence in a family] outnumber familial cases among individuals with C9orf72-ALS.);
* Up to 88% of individuals with manifestations of both FTD and ALS and a positive family history of these disorders [Cruts et al 2013, Masrori & Van Damme 2020].
Differential diagnosis for C9orf72-FTD
* Other types of dementia, especially with behavioral changes. Differential diagnosis includes "frontal variant" Alzheimer disease (see Alzheimer Disease Overview), diffuse Lewy body disease, Huntington disease, other forms of FTD (see GRN Frontotemporal Dementia), prion disease, corticobasal degeneration, and progressive supranuclear palsy.
Some individuals with C9orf72-FTD/ALS have a choreiform movement disorder which (especially when combined with behavioral abnormalities) may be confused with Huntington disease (see Clinical Description, Atypical Presentations) [Hensman Moss et al 2014].
* Psychiatric disorders. Especially in C9orf72-bvFTD with prominent behavioral manifestations, often in young individuals, a psychiatric diagnosis such as depression, obsessive compulsive disorder, bipolar disorder, and schizophrenia may be considered. Diagnostic workup and longitudinal clinical follow up are likely to distinguish between psychiatric disorders and FTD; however, they may exist concomitantly.
Age of onset of C9orf72-FTD (mean 58.2 years) was later than in MAPT-FTD (mean 49.5 years) and earlier than in GRN-FTD (mean 61.3 years) [Moore et al 2020]. Most studies report a similar onset age in individuals with C9orf72-FTD and those with FTD of unknown cause [Van Mossevelde et al 2018].
Differential diagnosis for C9orf72-ALS
* Isolated upper motor signs. Differential diagnosis includes compressive (cervical) myelopathy, hereditary spastic paraplegia, adrenomyeloneuropathy (see X-Linked Adrenoleukodystrophy), and cerebrotendinous xanthomatosis in individuals with isolated manifestations of upper motor involvement.
* Lower motor signs. Plexopathy, chronic inflammatory polyradiculoneuropathy, as well as multifocal motor, toxic, infectious, or metabolic neuropathies or myopathies including inclusion body myositis (see Inclusion Body Myopathy with Paget Disease of Bone and/or FTD) and polymyositis can mimic lower motor signs [Masrori & Van Damme 2020].
* Other forms of upper and lower motor neuron disorders. See ALS Overview, Differential Diagnosis.
* A rare ALS/FTD variant of prion disease [Vicente-Pascual et al 2018]
## Management
Consensus clinical management recommendations for C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) have not been published.
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with C9orf72-FTD/ALS, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with C9orf72-FTD/ALS
View in own window
System/ConcernEvaluationComment
NeurologicComplete neurologic examAssess:
* UMN involvement: spasticity, Babinski signs, hyperreflexia;
* LMN involvement: weakness, amyotrophy, fasciculations; EMG.
Cognitive
functionNeuropsychological examEvaluate extent & profile of cognitive disturbance.
Musculoskeletal/
ADLOrthopedics / physical medicine & rehab / PT evalTo incl assessment of:
* Muscle tone, joint range of motion, posture, mobility, strength, coordination & endurance, pain, bedsores
* Need for adaptive devices
* Footwear needs
* PT needs
* Need for assistive walking devices (e.g., canes, walker, walker w/wheels, walker w/seat, wheelchairs)
OTAssess:
* Fine motor function, e.g., hands, feet, face, fingers, & toes;
* Home adaptations for ADL & safety.
Eval of driving safetyIn case of cognitive impairment & impaired judgment, evaluate driving safety.
Psychiatric
illnessHistory of psychiatric illness 1
* Attention to possible alcohol or drug abuse
* Referral for psychiatric eval as needed
DysarthriaFor those w/dysarthria: speech/language evalReferral for speech therapy as needed
DysphagiaFor those w/frequent choking or severe dysphagia, assess:
* Nutritional status;
* Aspiration risk.
Consider involving a gastroenterology/nutrition/feeding team, incl formal swallowing eval.
Respiratory
functionBy pulmonologistAssess respiratory function & need for respiratory support.
Genetic
counselingBy genetics professionals 2To inform patients & their families re nature, MOI, & implications of C9orf72-FTD/ALS spectrum to facilitate medical & personal decision making
Family support/
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.
* Early discussion of advanced care planning
* The patient's perspective & burden must be considered in clinical decision making.
* The presence of cognitive impairment may raise ethical concerns.
ADL = activities of daily living; EMG = electromyography; LMN = lower motor neuron; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; UMN = upper motor neuron
1\.
Devenney et al [2014], Piguet et al [2017], Oskarsson et al [2018], Masrori & Van Damme [2020]
2\.
Medical geneticist, certified genetic counselor, or certified advanced genetic nurse
### Treatment of Manifestations
Many individuals benefit from care by a multidisciplinary team that includes a neurologist, specially trained nurses, pulmonologist, speech therapist, physical therapist, occupational therapist, respiratory therapist, nutritionist, psychologist, social worker, and genetic counselor.
For ALS-related treatment options, see also Amyotrophic Lateral Sclerosis Overview.
### Table 5.
Treatment of Manifestations in Individuals with C9orf72-FTD/ALS
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
UMN & LMN
involvement /
ADL
* Physical medicine & rehab / PT/OT
* Riluzol
* Edaravone
* Ankle-foot braces, walkers, wheelchairs, hospital beds, toileting equipment, lifts to improve functionality
* Note: Edaravone is not approved worldwide.
SpasticityBaclofen, tizanidine, cannabinoids, & muscle stretching
Muscle crampsMagnesium supplements, quinine sulfate, gabapentin, or carbamazepine
ParkinsonismPT, levodopa trialBecause of psychiatric levodopa side effects, use only when functional impairment is significant.
Cognitive functionCognitive rehab
Psychiatric/
behavioral
manifestationsEnvironmental, behavioral, & physical interventionsTo minimize occurrence & consequences of undesired behaviors
CounselingFor those w/affective disorders or to support affected person &/or caretakers.
SSRIsFor those w/affective disorders or disinhibition & challenging behaviors, the 1st-line approach is pharmacologic therapy.
VenlafaxineUsed when apathy is prominent
Atypical antipsychotics
* For severe manifestations (agitation, aggressiveness, psychosis) refractory to SSRIs
* Often a temporizing measure until affected person becomes more apathetic
* Note: Risk of iatrogenic extrapyramidal syndrome
Pseudobulbar affectDextromethorphan/quinidine
DysarthriaSpeech/language therapyUse of augmentative communication devices
DysphagiaContinuous eval & therapySafe swallowing techniques, diet modifications, gastrostomy tube
SialorrheaAnticholinergic medications, salivary gland botulinum toxin injections, or radiotherapyNote: Anticholinergic medication can affect cognition.
Respiratory functionAssisted ventilationNoninvasive at first, proceeding to tracheostomy if necessary
Bladder dysfunctionAnticholinergics & intravesical botulinum toxinNote: Anticholinergic medication can affect cognition.
Family/caregiver
support/resourcesPsychosocial support & education via caregiver & patient support groupsTo ↓ stress & burden on caregivers
Based on Andersen et al [2012], Siuda et al [2014], Piguet et al [2017], Oskarsson et al [2018], and Masrori & Van Damme [2020]
ADL = activities of daily living; LMN = lower motor neuron; OT = occupational therapy; PT = physical therapy; SSRI = selective serotonin reuptake inhibitor; UMN = upper motor neuron
### Surveillance
### Table 6.
Recommended Surveillance for Individuals with C9orf72-FTD/ALS
View in own window
System/ConcernEvaluationFrequency
ALSFTD
NeurologicNeurologic exam for new manifestations &/or response to medicationsEvery 2-3 mosUndefined; depends on disease progression & presenting symptoms
Mobility/ADLPhysical medicine & rehab / PT/OT
Cognitive functionRapid screening tools, incl tests of verbal fluency
Psychiatric/behavioral manifestationsMedical history, neurologic exam
Pseudobulbar affectMedical historyNot applicable
DysarthriaEval by speech therapistEvery 3-6 mosUndefined; depends on disease progression & presenting symptoms
DysphagiaMedical historyEvery 2-3 mosNot applicable
Sialorrhea
Respiratory functionMedical history, clinical exam, additional testing (e.g., forced vital capacity, vital capacity)
Bladder functionMedical history
Family/caregiver support/resourcesMedical history, assess need for additional support.Undefined; depends on disease progression & presenting symptoms
Based on Andersen et al [2012], Piguet et al [2017]
ADL = activities of daily living; OT = occupational therapy; PT = physical therapy
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Although results in a preclinical setting only are available to date, antisense oligonucleotide therapy may be promising as a disease-modifying therapy in C9orf72 repeat expansion heterozygotes. A Phase I clinical trial testing such an agent was commenced in 2018 (NCT03626012).
Other potential RNA therapies include the use of duplex and single-stranded small interfering RNAs to silence C9orf72 transcripts, as well as adeno-associated virus-delivered artificial microRNAs targeting C9orf72 [Panza et al 2020].
Promising results have been achieved in a Phase II/III clinical trial with the selective tyrosine kinase inhibitor masitinib, as an add-on therapy to riluzole in persons with ALS [Mora et al 2020]. An additional Phase III clinical trial to verify and further specify these effects is being set up (NCT03127267).
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.
*[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
| C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | None | 29,573 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK268647/ | 2021-01-18T21:38:53 | {"synonyms": ["C9orf72-FTD/ALS"]} |
A number sign (#) is used with this entry because this form of dilated cardiomyopathy is caused by mutation in the gene encoding metavinculin (VCL; 193065).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Molecular Genetics
Olson et al. (2002) used SSCP to analyze the VCL gene, which maps to chromosome 10q, in 350 unrelated patients with sporadic or familial dilated cardiomyopathy who were negative for mutations in the ACTC (102540) and TPM1 (191010) genes, and identified heterozygosity for a 3-bp in-frame deletion (L954del; 193065.0001) and a missense mutation (R975W; 193065.0002) in 2 patients, respectively. Neither mutation was found in 500 controls. A potential risk-conferring polymorphism, A934V, was identified in heterozygosity in a 30-year-old man with dilated cardiomyopathy who died 2 years after diagnosis of progressive heart failure; this variant was also found in 1 of 500 controls, a 67-year-old woman in whom electrocardiography showed abnormal T waves but echocardiogram was nondiagnostic for dilated cardiomyopathy. All 3 variants were located in exon 19, the metavinculin-specific exon of the VCL gene. Low-shear viscometry studies revealed variable reductions in viscosity associated with the variants, with greater reductions caused by the L954del and R975W mutants. Fluorescence microscopy confirmed the viscosity findings, with actin organization by the A934V variant similar to wildtype, although the network appeared coarser; more prominent bundles were observed for L954del, and R975W showed the highest bundling activity. Electron microscopy of cardiac myocytes from a patient with the R975W mutation showed irregular and fragmented intercalated discs, with intact sarcomeric thin and thick filaments.
*[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
| CARDIOMYOPATHY, DILATED, 1W | c0340427 | 29,574 | omim | https://www.omim.org/entry/611407 | 2019-09-22T16:03:19 | {"doid": ["0110446"], "mesh": ["C536231"], "omim": ["611407"], "orphanet": ["154"], "genereviews": ["NBK1309"]} |
A number sign (#) is used with this entry because of evidence that familial episodic pain syndrome-3 (FEPS3) is caused by heterozygous mutation in the SCN11A gene (604385) on chromosome 3p22.
Description
Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013).
For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040).
Clinical Features
Zhang et al. (2013) reported 2 unrelated large multigenerational Chinese families with a similar episodic pain syndrome with onset in early childhood. Intense pain was localized primarily to the distal lower extremities and occasionally in the upper body, especially in the joints of fingers and arms. Episodic pain appeared late in the day and occurred in cycles. The pain was exacerbated with fatigue, such as catching a cold or performing hard exercise, and was relieved by oral administration of antiinflammatory analgesic medicines. Episodes of pain were usually accompanied by sweating. The feeling of the pain region was extremely cold and the pain could be mitigated by a hot compress. All affected individuals reported that the severe pain episodes diminished with age. Neurologic examinations of 2 probands showed retained and intact sensitivities to joint position, light touch, and pinprick.
### Clinical Variability
Small nerve fiber neuropathy (SFNP) is a clinical diagnosis that refers to a relatively common disorder characterized by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the thinly myelinated and unmyelinated small diameter nerve fibers; large diameter fibers are spared (summary by Faber et al., 2012). Huang et al. (2014) reported 12 unrelated patients with a clinical diagnosis of painful small fiber peripheral neuropathy associated with a heterozygous missense mutation in the SCN11A gene (see MOLECULAR GENETICS). Clinical features of 4 of these patients were described in detail. All 4 had onset of symptoms between 40 and 71 years of age. Symptoms were slightly variable, but mainly included numbness, tingling and burning sensations, and pain in the feet and hands. Two patients had intermittent foot or leg cramps, 1 patient reported pain triggered by low temperatures, and 1 reported involvement of the pubic region, ears, and tip of the tongue. Only 1 patient reported pain triggered by low temperature, although sensory testing showed abnormal cold and warm temperature thresholds in all patients. Physical examination showed decreased distal vibratory sensation in 2 patients, who were also diagnosed with large fiber involvement. Only 1 of the 4 patients had evidence of a peripheral neuropathy on nerve conduction studies. Skin biopsies showed normal intraepidermal nerve fiber densities in 3 patients and slightly decreased density in 1. All patients had additional features suggesting autonomic dysfunction, including hyperhidrosis, diarrhea, dry mouth, dry eyes, palpitations, and hot flushes. Three of the patients had significant comorbid medical problems, including Alport syndrome (203780), primary biliary cirrhosis, and colorectal cancer that was not treated with chemotherapy.
Inheritance
The transmission pattern of FEPS3 in the families reported by Zhang et al. (2013) was consistent with autosomal dominant inheritance.
Molecular Genetics
In 2 unrelated Chinese families with autosomal dominant familial episodic pain syndrome-3, Zhang et al. (2013) identified 2 different missense mutations in the SCN11A gene (R225C, 604385.0002; A808G, 604385.0003). The mutation in the first family was found by genomewide linkage analysis combined with whole-exome sequencing. Electrophysiologic studies in mouse dorsal root ganglia neurons showed that both mutations had higher peak current densities compared to wildtype, indicating higher electrical activity. Mutant channels also showed increased spontaneous firing compared to wildtype. However, voltage-dependence for activation and inactivation kinetics of mutant channels were similar to wildtype. Neurons expressing the A808G mutation fired more action potentials than those expressing the R225C mutation, which was consistent with the increased number of episodic pain episodes in the family carrying the A808G mutation. Zhang et al. (2013) noted that the SCN11A channel is not directly responsible for action potential generation, but suggested that higher electrical activities of the mutant channels may induce the opening of other sodium channels, such as SCN10A (604427), and thus cause dorsal root ganglion neurons to be hyperexcitable, which would contribute to the episodic pain syndrome.
In 12 of 345 unrelated patients with painful small fiber peripheral neuropathy, Huang et al. (2014) identified 7 different heterozygous missense mutations in the SCN11A gene (see, e.g., L1158P, 604385.0004 and I381T, 604385.0005). Four of the mutations affected residues in membrane-spanning segments of the channel. Electrophysiologic studies showed that the L1158P and I381T mutations conferred a gain of function by depolarizing the resting membrane potential of dorsal root ganglion neurons, enhancing spontaneous firing, and increasing evoked firing of these neurons.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Hyperhidrosis occurs during pain episodes NEUROLOGIC \- Autonomic dysfunction, variable Peripheral Nervous System \- Pain, episodic, localized mainly to the distal lower extremities although occasionally occurs in the distal upper extremities \- Other sensory modalities may be normal or diminished MISCELLANEOUS \- Two unrelated Chinese families have been reported (last curated November 2013) \- Onset in early childhood \- Pain is noted to feel cold \- Episodes are triggered by fatigue, illness, or strenuous exercise \- Pain is relieved by antiinflammatory medication \- Pain tends to occur later in the day \- Episodes tend to decrease with age \- Some patients may present with adult-onset small fiber neuropathy MOLECULAR BASIS \- Caused by mutation in the voltage-gated sodium channel, type XI, alpha subunit gene (SCN11A, 604385.0002 ) ▲ 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
| EPISODIC PAIN SYNDROME, FAMILIAL, 3 | c3809899 | 29,575 | omim | https://www.omim.org/entry/615552 | 2019-09-22T15:51:38 | {"omim": ["615552"], "orphanet": ["391384", "391392"], "synonyms": ["FEPS"]} |
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.
## Epidemiology
The average prevalence of proximal spinal muscular atrophy (SMA) is estimated at 1/12,000, of which approximately 60% account for type 1.
## Clinical description
Disease onset occurs before 6 months of age. The severe, symmetrical muscle weakness affects predominantly proximal limbs but often also involves the extremities. Cries are weak. Poor sucking ability and reduced swallowing are frequent, leading to feeding difficulties. Deep tendon reflexes are absent. Patients have paradoxical breathing, a bell shaped chest and develop respiratory failure. Mild contractures (of the knees and, more rarely, of the elbows), and scoliosis may be present. Classically, patients were not able to achieve sitting without support but this has changed following the availability of new treatments.
## Etiology
The disease is a result of degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. Causal homozygous mutations/deletions in the SMN1 gene (5q12.2-q13.3) are responsible. SMN1 encodes the survival motor neuron protein (SMN) which is known to participate in critical pathways related to RNA processing and transport, and it is believed that motor neurons are particularly vulnerable to impairments in these processes. Modifier genes include SMN2 (5q13.2), a homologous centromeric copy of SMN1, and NAIP (5q13.1), encoding neuronal apoptosis inhibitory protein. The number of copies of the SMN2 is inversely correlated to disease severity.
## Diagnostic methods
The diagnosis is clinically suggested by muscle weakness and hypotonia with sparing of the facial muscles, loss of reflexes, typical respiratory pattern with predominance of diaphragmatic movements compared to poor intercostal movements, and tremor. Diagnosis is confirmed by genetic testing of SMN1 deletion/mutation and, if possible, SMN2 copy number testing. Muscle biopsy and electromyography should not be performed in patients with typical presentation.
## Differential diagnosis
Differential diagnoses include, other spinal muscular atrophies with infantile onset (infantile-onset X-linked spinal muscular atrophy and spinal muscular atrophy with respiratory distress type 1), congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, some early-onset mitochondrial disorders, and carbohydrate metabolism disorders (glycogen storage disease due to acid maltase deficiency).
## Antenatal diagnosis
Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples.
## Genetic counseling
Transmission is autosomal recessive and thus the risk of transmission to offspring is 25% where both parents are unaffected carriers. However, around 2% of cases are caused by de novo mutations. Genetic counseling should be offered to affected families.
## Management and treatment
Symptomatic management is multidisciplinary and aims to improve quality of life. This includes respiratory support (noninvasive ventilation and airway clearance), physiotherapy, gastrostomy, and antibiotic treatment in case of pulmonary infection. In the last few years, nusinersen, an antisense oligonucleotide, has been approved and made available for treatment of all SMA types in Europe and the USA. Clinical trials and real world data have shown that it reduces the risk of death and improves motor milestones in type 1 patients, with a number of patients achieving sitting without support. The best results are seen following early intervention and in presymptomatic patients. Risdiplam (a small molecule) has a also recently successfully completed clinical trials and has become commercially available in US and, for compassionate use, also in Europe. A different approach, using gene therapy, onasemnogene abeparvovec, has also been approved in US and Europe. The results of the clinical trials in young patients also indicate a very high rate of survival beyond 2 years and an improvement of motor function. Real world data are being collected in older patients but are not yet publicly available.
## Prognosis
The prognosis is generally poor with most patients dying within the first two years of life due to respiratory failure. Data on long term outcomes with nusinersen treatment and with other drugs are now becoming increasingly available, suggesting long term survival.
* European Reference Network
*[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
| Proximal spinal muscular atrophy type 1 | c0043116 | 29,576 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83330 | 2021-01-23T17:49:48 | {"gard": ["7883"], "mesh": ["D014897"], "omim": ["253300"], "umls": ["C0043116"], "icd-10": ["G12.0"], "synonyms": ["Infantile spinal muscular atrophy", "SMA type 1", "SMA type I", "SMA-I", "SMA1", "Werdnig-Hoffmann disease"]} |
Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
*[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
| Amelocerebrohypohidrotic syndrome | c0406740 | 29,577 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1946 | 2021-01-23T18:41:16 | {"gard": ["3128"], "mesh": ["C537213"], "omim": ["226750"], "umls": ["C0406740"], "icd-10": ["G40.8"], "synonyms": ["Epilepsy-dementia-amelogenesis imperfecta syndrome", "Kohlschütter-Tönz syndrome"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (August 2019)
Labile Hypertension
Graphic image that shows vasoconstricting and vasodilation of a blood vessel to show fluctuation in blood pressure
SpecialtyCardiology
Risk factorsCardiovascular disease, stroke
Diagnostic methodBlood pressure measurements
Preventionavoidance of smoking, limited alcohol intake, reduced intake of salt and caffeine
Labile hypertension occurs when there are unexpected changes in blood pressure. The term can be used to describe when people have blood pressure measurements that abruptly fluctuates from being abnormally high, approximately 130/80mm Hg or over and returns to its normal range.
Patients who have labile hypertension may have higher cardiac output and lower total peripheral resistance than others.[1] Behavioural and lifestyle factors are the two main factors that causes labile hypertension to occur. Extrinsic factors such as physical activities, insomnia and intake of sodium are likely to increase the occurrence of labile hypertension. Reduced arterial compliance and baroreflex failure may contribute to trigger a response as well.[2] Diagnosis is typically by 24 hours ambulatory blood pressure monitoring to which measurements can be taken at home without having to visit to the physician’s office.
Labile hypertension can be a primary risk factor that may contribute to stroke or cardiovascular disease (CVD). Prevention of life threatening complications involves lifestyle changes such as avoidance of smoking and reducing the amount of salt, caffeine and alcohol intake. There are no set criteria to treat labile hypertension as there are many underlying mechanisms that varies depending on the symptoms. Because stressors are the main cause of labile hypertension, common treatment may involve prescription medications such as anti-anxiety tablets to reduce emotional stressors, and otherwise, as well as decrease the risk of labile hypertension. Pathophysiology are still finding specific therapeutic and prevention of labile hypertension.
## Contents
* 1 Types
* 2 Symptoms
* 2.1 Complications
* 3 Causes
* 4 Diagnosis
* 5 Treatment
* 5.1 Management
* 6 Epidemiology
* 7 References
## Types[edit]
There are two different types of hypertension, though, the underlying mechanisms to which the blood pressure fluctuates from being normal to abnormally high remains the same.
* Labile hypertension: Normally occur during emotional or social stressors and may not physically show symptoms. Currently, there are limitations of current knowledge behind the mechanisms of labile hypertension and clinicians are still finding future clinical management.
* Paroxysmal hypertension: Occur randomly during the day but it is said that paroxysmal hypertension are caused by repressed distressed emotions such as intense fear due to past trauma. Some of the physical symptoms that accompany include headache, weakness and fear. Paroxysmal hypertension is different from panic disorder in which they are characterised with extreme elevation of blood pressure that is not triggered by fear. In panic disorder, elevation of blood pressure is generally mild and is normally triggered by fear or panic.[3] There is a small percentage, approximately 2% who raises suspicion for have pheochromocytoma, a tumour in the adrenal glands. This involves the sympathetic nervous system and treatment for paroxysmal hypertension is available.[4]
## Symptoms[edit]
Generally, labile hypertension does not present any physical symptoms during fluctuations of blood pressure. Elevation and decrease of blood pressure reading usually occurs without intervention. However, if the normal resting pressure remains abnormally excessive, common signs and symptoms that are present include: Headache, Heart palpitations, Flushing, Tinnitus (ringing or buzzing noise in one or both ears), Weakness of body, Dizziness and diaphoresis. Some may describe the episodes as abrupt in onset such that they were not evoked by stress. Episodes of these symptoms may range from half an hour to many hours and frequently of attacks ranged from once or twice a day to a few months.
### Complications[edit]
Typically, an increase in blood pressure may put strain on the heart and possibly other organs that may cause damage to the blood vessels, eyes and the heart. Uncontrollable increase in blood pressure can cause damage to the arteries that are present around kidneys, and thus restrict the blood to deliver. Due to inconsistent fluctuations in blood pressure, this can cause additional problems to people with pre-existing heart or blood vessel conditions such as angina, cerebral aneurysm or aortic aneurysm.[5] Uncontrolled pressure in the blood can lead to further complications such as vascular dementia as the narrowed arteries can reduce and limit blood flow to the brain.
## Causes[edit]
It is important to understand that it is common for blood pressure to rise and fall dramatically when dealing with stressors in people’s everyday life. While these can be normal, others may be serious. Possible causes alone or in conjunction that can cause labile hypertension are in the following criteria.
* Caffeine: consumption of caffeine may constrict blood vessels that may stimulate and display unexpected spikes in blood pressure. Researchers believe that caffeine could possible block hormones that normally keeps arteries widened. Caffeine may also cause adrenal glands to release adrenaline which causes the blood pressure to dramatically increase.
* White Coat Syndrome: occurs in situations when people are anxious with their visit to the doctor or General Practitioner (GP) which can elevate blood pressure readings.[6]
* Pheochromocytoma: Normally, in a healthy person, the non-cancerous tumour that is present in the adrenal gland is responsible for releasing hormones that can cause the blood pressure to change. However, if diagnosed with Pheochromocytoma, there will be a neuroendocrine tumour that is found in the adrenal gland which can cause overproduction of induced hormones that can lead to episodic of high blood pressure.[7]
* Salt: People may develop blood pressure spikes in high sodium intake that is contained in meals. High sodium intake may put extra strain in arteries which causes the muscles in the artery walls to become thicker. The radius inside the artery space will be smaller. As the arteries are constricted, organs such as the heart that receives the blood from the arteries decreases. This will reduces the amount of oxygen and nutrients they need and may cause possible damage to organs. At early stage, it may cause a slight reduction of blood flowing to the heart that may lead to angina. Salt can also cause damage to the brain such that there is reduction of blood that reaches the brain and may lead to vascular dementia. According to The American Heart Association (AHA), the recommended daily salt intake is 2300 mg.
* Anxiety: environmental stressors are exposed in daily lives that can cause sudden increase in blood pressure. For example, emotional stressors leads to severe reduction of arterial blood pressure.
* Baroreflex failure: In the human body, baroreflexes maintain blood pressure homeostasis. Typically, the three circumstances that baroreflexes can fail are: problems with the central processing, damage to the Autonomic Nervous System which is associated with damage to parasympathetic and sympathetic damage and damage to carotid sinus that can cause failure to afferent signalling.[8]
Labile hypertension can occur through exposure to everyday lifestyles. Some of these include are the usage of tobacco. Tobacco significantly increase blood pressure and heart rate temporarily and can damage the artery walls caused by the chemicals that are contained in tobacco.[9] Chemicals in tobacco include nicotine and carbon monoxide interferes with the cardiovascular system (CVD). Nicotine is a stimulant that releases vasopressin, and can cause the blood vessel to constrict and thus can reduce the amount of blood to flow. Carbon monoxide is a toxic chemical that binds haemoglobin (molecule in the blood that carries oxygen) will decrease the amount of oxygen delivered to the cells and cause damage to other organs in the body.
Damage to the arterial walls can cause vasoconstriction, allowing the arteries to narrow which can increase the risk of heart disease.[10] Drinking too much alcohol moderately (more than one drink for women and two drinks for men) can cause damage to the heart. Researchers have found that heavy drinkers can lead to episodes of tachycardia, a problem with the electrical signalling that can elevate heart rate. Frequent drinking can lead blood clots and may increase severity of heart attack or stroke.
## Diagnosis[edit]
Ambulatory blood pressure monitoring: A non-invasive portable device that can monitor and record blood pressure automatically during specific time of the day, especially is focused on people who have White Coat Syndrome as it can reduce the elevation of blood pressure during the visit in the examination room.[11] This can allow doctors to identify results and observe patterns.[12] Patients who normally undergo ambulatory blood pressure monitoring are suggested to keep record on the periods of awake and asleep times, medication intake and periods when exposed to exercise. This allows the clinicians to eliminate the transition periods when blood pressure rapidly elevates.[13]
The blood pressure reading is recorded as two numbers, systolic and diastolic. The systolic blood pressure represents the amount of pressure the blood is applying against artery walls during heartbeats whereas the diastolic blood pressure shows while the heart is resting between beats.
Electrocardiogram (EKG or ECG): A clinical test to measure and record electrical conductivity of the heart. It helps determine defects of heart electrical activity, rhythm and rate to help assist in diagnosis of heart defects that may affect in heart rhythm such as tachycardia and coronary artery blood flow (e.g. ischemia). Electrodes are placed on the surface of the skin and connected to the amplifier to detect electrical changes in the cardiac muscle when it is depolarising and repolarising.
## Treatment[edit]
There are no specific set criteria to treat labile hypertension. This is because the condition is not yet well defined and makes it difficult for doctors to treat labile hypertension as medications are usually given for patients who have hypertension. Generally, doctors will suggest people to monitor and observe their blood pressure throughout the day, preferably for 24 hours, as commonly prescribed medications available today for blood pressure may not be effective. Because labile hypertension is mainly caused by anxiety, in occurrence to short term situations, doctors will often prescribe anti-anxiety medications that may help reduce any stressors. Some of the common medications to reduce anxiety includes:
* Alprazolam (Xanax): oral tablet that has an enhancing effect to help prevent panic or anxiety disorders.
* Clonazepam (Klonopin): oral tablet that helps prevent seizures and panic attacks.
* Diazepam (Valium): may help reduce the effect of anxiety when withdrawal with alcohol intake.
* Lorazepam (Ativan): Should be taken in short period of time between 2-4weeks that reduces anxiety.
Long-term treatment of anxiety that requires daily medication would include: Paroxetine (Paxil), Sertraline (Zoloft), Escitalopram (Lexapro), Citalopram (Celexa). Otherwise, a prescription drug called Clonidine is used to lower blood pressure by relaxing the blood vessels. This will prevent life threatening problems such as stroke, heart attacks and kidney problems.
Beta blockers are medications that often prevent paroxysmal and labile hypertension as they interact with the sympathetic nervous system. Beta blockers help reduce blood pressure by blocking the effects of hormone epinephrine, also known as adrenaline. The effect of taking beta blockers can help lower the heart rate as well as help improve the blood flow by opening up the blood vessels widely. Doctors may prescribe beta blockers as one of the medications that help reduce blood pressure , including diuretics and calcium channel blockers.
### Management[edit]
Labile hypertension can be initially treated through behavioural modifications. Behavioural factors such as the mental activity of an individual or emotional status should be managed. Anxiety is one of the common forms of mental illness, there are increasing risks that can affect physical health problems. Therefore, to reduce stress and anxiety, reduction to smoking and alcohol, decreasing intake of salt or having regular aerobic activity are some examples of therapy that can help manage cases of labile hypertension. By reducing alcohol intake, the systolic blood pressure will lower by 2-4mm Hg and the diastolic blood pressure by 1–2 mm Hg.
However, doctors will preferably suggest patients to monitor blood pressure at home during modification of lifestyle and behavioural changes.
## Epidemiology[edit]
The prevalence of labile hypertension in USA is estimated to have more than 40 million adults which can develop the risks of hemorrhagic stroke.[14] Labile hypertension is most common in Charlottesville, Virginia with up to 11% of the population. Average age who have labile hypertension is 64±13 years.[15] It was found that ageing was one of the characteristics that highly associates with fluctuations of blood pressure such that during day or night time, the systolic and diastolic pressure alternates and shows abnormal diurnal pattern.
## References[edit]
1. ^ Eich, R. H.; Cuddy, R. P.; Smulyan, H.; Lyons, R. H. (1966-08-01). "Hemodynamics in Labile Hypertension: A Follow-Up Study". Circulation. 34 (2): 299–307. doi:10.1161/01.CIR.34.2.299. ISSN 0009-7322. PMID 5969360.
2. ^ Raj, Satish R.; Luther, James M.; Sato, Kyoko; Diedrich, André (April 2009). "'Labile hypertension' can be due to autonomic nervous system failure". Kidney International. 75 (8): 860, author reply 860–1. doi:10.1038/ki.2008.665. PMID 19337219.
3. ^ Mann, Samuel J. (1999-04-12). "Severe Paroxysmal Hypertension (Pseudopheochromocytoma): Understanding the Cause and Treatment". Archives of Internal Medicine. 159 (7): 670–674. doi:10.1001/archinte.159.7.670. ISSN 0003-9926. PMID 10218745.
4. ^ Mann, Samuel J. (November 2015). "Labile and Paroxysmal Hypertension: Common Clinical Dilemmas in Need of Treatment Studies". Current Cardiology Reports. 17 (11): 99. doi:10.1007/s11886-015-0646-0. ISSN 1534-3170. PMID 26370555. S2CID 207326490.
5. ^ Mann, Samuel J. (2009). "The Clinical Spectrum of Labile Hypertension: A Management Dilemma". The Journal of Clinical Hypertension. 11 (9): 491–497. doi:10.1111/j.1751-7176.2009.00155.x. ISSN 1751-7176. PMID 19751461. S2CID 9378265.
6. ^ Khan, Tipu V.; Khan, Safa Shakir-Shatnawi; Akhondi, Andre; Khan, Teepu W. (2007-03-13). "White Coat Hypertension: Relevance to Clinical and Emergency Medical Services Personnel". Medscape General Medicine. 9 (1): 52. ISSN 1531-0132. PMC 1924974. PMID 17435652.
7. ^ Cleveland Clinic Journal of Medicine. 2014 November;81:677-682. "A 61-year-old man with fluctuating hypertension". www.mdedge.com. Retrieved 2019-06-03.CS1 maint: multiple names: authors list (link)
8. ^ Heusser Karsten; Tank Jens; Luft Friedrich C.; Jordan Jens (2005-05-01). "Baroreflex Failure". Hypertension. 45 (5): 834–839. doi:10.1161/01.HYP.0000160355.93303.72. PMID 15837841.
9. ^ Farsalinos, Konstantinos; Cibella, Fabio; Caponnetto, Pasquale; Campagna, Davide; Morjaria, Jaymin Bhagwanji; Battaglia, Eliana; Caruso, Massimo; Russo, Cristina; Polosa, Riccardo (2016). "Effect of continuous smoking reduction and abstinence on blood pressure and heart rate in smokers switching to electronic cigarettes". Internal and Emergency Medicine. 11 (1): 85–94. doi:10.1007/s11739-015-1361-y. ISSN 1828-0447. PMC 4747988. PMID 26749533.
10. ^ Kannel, W B; Sorlie, P; Gordon, T (June 1980). "Labile hypertension: a faulty concept? The Framingham study". Circulation. 61 (6): 1183–1187. doi:10.1161/01.CIR.61.6.1183. ISSN 0009-7322. PMID 7371131.
11. ^ McGrath, Barry P. (2002-06-17). "Ambulatory blood pressure monitoring". The Medical Journal of Australia. 176 (12): 588–592. doi:10.5694/j.1326-5377.2002.tb04590.x. PMID 12064958. S2CID 30889136.
12. ^ National Clinical Guideline Centre (UK) (2011). Hypertension: The Clinical Management of Primary Hypertension in Adults: Update of Clinical Guidelines 18 and 34. National Institute for Health and Clinical Excellence: Guidance. London: Royal College of Physicians (UK). PMID 22855971.
13. ^ O’Brien, Eoin; Dolan, Eamon; Asayama, Kei; Hara, Azusa; Li, Yan; Staessen, Jan A. (2017-05-01). "Blood Pressure Measurement Anno 2016". American Journal of Hypertension. 30 (5): 453–463. doi:10.1093/ajh/hpw148. ISSN 0895-7061. PMID 28052877.
14. ^ Varon, Joseph (October 2007). "Diagnosis and management of labile blood pressure during acute cerebrovascular accidents and other hypertensive crises". The American Journal of Emergency Medicine. 25 (8): 949–959. doi:10.1016/j.ajem.2007.02.032. ISSN 1532-8171. PMID 17920983.
15. ^ Elliott, Matthew R.; Soto Soto, Jose M.; Haley, William E.; Fitzpatrick, Peter M.; Dwyer, Jamie P. (2013). "Labile hypertension: characteristics of a referred cohort". Clinical and Experimental Hypertension. 35 (3): 207–212. doi:10.3109/10641963.2012.712180. ISSN 1525-6006. PMID 22917450. S2CID 5426441.
*[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
| Labile hypertension | c3665418 | 29,578 | wikipedia | https://en.wikipedia.org/wiki/Labile_hypertension | 2021-01-18T18:34:46 | {"wikidata": ["Q85775462"]} |
Lutz-Richner and Landolt (l973) described 2 male sibs with second-cousin parents and an identical syndrome leading to death at the age of about 4 months. Features were extrahepatic and intrahepatic biliary hyperplasia, tubular renal failure with generalized nonspecific amino aciduria, proteinuria, glycosuria and chronic metabolic acidosis, failure to thrive, and predisposition to infections. Mikati et al. (1984) also reported the cases of 2 brothers with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. They presented early in the neonatal period with micrognathia, low-set ears, highly arched palate, barrel chest, bilateral simian creases, clubfeet, hip dislocation, hypotonia, conjugated hyperbilirubinemia, and severe failure to thrive. They died at 2 and 4 months of age. Kidney histology was normal except for calcification of some distal tubules. Immunologic studies suggested a defect in polymorphonuclear cell migration and intracellular killing. This could, of course, be X-linked recessive. The association of renal tubular insufficiency (manifested by proteinuria, hematuria, hyperchloremic acidosis, low tubular reabsorption of phosphate, low specific gravity of urine), arthrogryposis (clubfoot, contractures of hips and knees), and biliary abnormalities (cholestatic jaundice, hepatomegaly) was reported also by Papadia et al. (1996) in 2 brothers born of nonconsanguineous parents. Hepatic scintigraphy in both brothers revealed no evident intra- or extrahepatic bile ducts, consistent with the diagnosis of bile duct atresia. Liver biopsy in 1 brother showed paucity and hypoplasia of the bile ducts; biopsy was not possible in the other brother.
Limbs \- Bilateral simian creases \- Clubfoot \- Hip dislocation Neuro \- Hypotonia Renal \- Tubular renal failure \- Distal tubule calcification Inheritance \- Autosomal vs. X-linked recessive Immunology \- Defect in polymorphonuclear cell migration and intracellular killing Ears \- Low-set Metabolic \- Chronic metabolic acidosis Mandible \- Micrognathia Misc \- Predisposition to infections \- Males only reported Lab \- Generalized nonspecific aminoaciduria \- Proteinuria \- Glycosuria \- Conjugated hyperbilirubinemia Growth \- Failure to thrive \- Death at age 4 months Mouth \- High-arched palate Liver \- Biliary hyperplasia, extrahepatic and intrahepatic \- Cholestatic jaundice Thorax \- Barrel chest ▲ 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
| BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | c0400972 | 29,579 | omim | https://www.omim.org/entry/210550 | 2019-09-22T16:30:28 | {"mesh": ["C537726"], "omim": ["210550"], "synonyms": ["Alternative titles", "CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY"]} |
Diminished or absent ability of a female to achieve conception
Female infertility
Cumulative percentage and average age for women reaching subfertility, sterility, irregular menstruation and menopause.[1]
SpecialtyGynecology
Female infertility refers to infertility in women. It affects an estimated 48 million women,[2] with the highest prevalence of infertility affecting people in South Asia, Sub-Saharan Africa, North Africa/Middle East, and Central/Eastern Europe and Central Asia.[2] Infertility is caused by many sources, including nutrition, diseases, and other malformations of the uterus. Infertility affects women from around the world, and the cultural and social stigma surrounding it varies.
## Contents
* 1 Cause
* 1.1 Acquired
* 1.1.1 Age
* 1.1.2 Tobacco smoking
* 1.1.3 Sexually transmitted infections
* 1.1.4 Body weight and eating disorders
* 1.1.5 Radiation
* 1.1.6 Chemotherapy
* 1.1.7 Immune infertility
* 1.1.8 Other acquired factors
* 1.2 Genetic factors
* 1.3 By location
* 1.3.1 Hypothalamic-pituitary factors
* 1.3.2 Ovarian factors
* 1.3.3 Tubal (ectopic)/peritoneal factors
* 1.3.4 Uterine factors
* 1.3.5 Cervical factors
* 1.3.6 Vaginal factors
* 2 Diagnosis
* 2.1 Definition
* 3 Prevention
* 4 Treatment
* 5 Epidemiology
* 5.1 Africa
* 5.2 Asia
* 5.3 Latin America and Caribbean
* 6 Society and culture
* 6.1 Social stigma
* 6.2 Marital role
* 6.3 Domestic abuse
* 6.4 Mental and psychological impact
* 7 See also
* 8 References
* 9 External links
## Cause[edit]
Causes or factors of female infertility can basically be classified regarding whether they are acquired or genetic, or strictly by location.
Although factors of female infertility can be classified as either acquired or genetic, female infertility is usually more or less a combination of nature and nurture. Also, the presence of any single risk factor of female infertility (such as smoking, mentioned further below) does not necessarily cause infertility, and even if a woman is definitely infertile, the infertility cannot definitely be blamed on any single risk factor even if the risk factor is (or has been) present.
### Acquired[edit]
According to the American Society for Reproductive Medicine (ASRM), age, smoking, sexually transmitted infections, and being overweight or underweight can all affect fertility.[3]
In broad sense, acquired factors practically include any factor that is not based on a genetic mutation, including any intrauterine exposure to toxins during fetal development, which may present as infertility many years later as an adult.
#### Age[edit]
Main article: Age and female fertility
A woman's fertility is affected by her age. The average age of a girl's first period (menarche) is 12–13 (12.5 years in the United States,[4] 12.72 in Canada,[5] 12.9 in the UK[6]), but, in postmenarchal girls, about 80% of the cycles are anovulatory in the first year after menarche, 50% in the third and 10% in the sixth year.[7] A woman's fertility peaks in the early and mid 20s, after which it starts to decline, with this decline being accelerated after age 35. However, the exact estimates of the chances of a woman to conceive after a certain age are not clear, with research giving differing results. The chances of a couple to successfully conceive at an advanced age depend on many factors, including the general health of a woman and the fertility of the male partner.
#### Tobacco smoking[edit]
See also: Women and smoking § Unique gender differences and health effects for Females
Tobacco smoking is harmful to the ovaries, and the degree of damage is dependent upon the amount and length of time a woman smokes or is exposed to a smoke-filled environment. Nicotine and other harmful chemicals in cigarettes interfere with the body’s ability to create estrogen, a hormone that regulates folliculogenesis and ovulation. Also, cigarette smoking interferes with folliculogenesis, embryo transport, endometrial receptivity, endometrial angiogenesis, uterine blood flow and the uterine myometrium.[8] Some damage is irreversible, but stopping smoking can prevent further damage.[9] Smokers are 60% more likely to be infertile than non-smokers.[10] Smoking reduces the chances of IVF producing a live birth by 34% and increases the risk of an IVF pregnancy miscarrying by 30%.[10] Also, female smokers have an earlier onset of menopause by approximately 1–4 years.[11]
#### Sexually transmitted infections[edit]
Sexually transmitted infections are a leading cause of infertility. They often display few, if any visible symptoms, with the risk of failing to seek proper treatment in time to prevent decreased fertility.[9]
#### Body weight and eating disorders[edit]
Twelve percent of all infertility cases are a result of a woman either being underweight or overweight. Fat cells produce estrogen,[12] in addition to the primary sex organs. Too much body fat causes production of too much estrogen and the body begins to react as if it is on birth control, limiting the odds of getting pregnant.[9] Too little body fat causes insufficient production of estrogen and disruption of the menstrual cycle.[9] Both under and overweight women have irregular cycles in which ovulation does not occur or is inadequate.[9] Proper nutrition in early life is also a major factor for later fertility.[13]
A study in the US indicated that approximately 20% of infertile women had a past or current eating disorder, which is five times higher than the general lifetime prevalence rate.[14]
A review from 2010 concluded that overweight and obese subfertile women have a reduced probability of successful fertility treatment and their pregnancies are associated with more complications and higher costs. In hypothetical groups of 1,000 women undergoing fertility care, the study counted approximately 800 live births for normal weight and 690 live births for overweight and obese anovulatory women. For ovulatory women, the study counted approximately 700 live births for normal weight, 550 live births for overweight and 530 live births for obese women. The increase in cost per live birth in anovulatory overweight and obese women were, respectively, 54 and 100% higher than their normal weight counterparts, for ovulatory women they were 44 and 70% higher, respectively.[15]
#### Radiation[edit]
Exposure to radiation poses a high risk of infertility, depending on the frequency, power, and exposure duration. Radiotherapy is reported to cause infertility,.[16]
> the amount of radiation absorbed by the ovaries will determine if she becomes infertile. High doses can destroy some or all of the eggs in the ovaries and might cause infertility or early menopause.
#### Chemotherapy[edit]
Chemotherapy poses a high risk of infertility. Chemotherapies with high risk of infertility include procarbazine and other alkylating drugs such as cyclophosphamide, ifosfamide, busulfan, melphalan, chlorambucil and chlormethine.[17] Drugs with medium risk include doxorubicin and platinum analogs such as cisplatin and carboplatin.[17] On the other hand, therapies with low risk of gonadotoxicity include plant derivatives such as vincristine and vinblastine, antibiotics such as bleomycin and dactinomycin and antimetabolites such as methotrexate, mercaptopurine and 5-fluorouracil.[17]
Female infertility by chemotherapy appears to be secondary to premature ovarian failure by loss of primordial follicles.[18] This loss is not necessarily a direct effect of the chemotherapeutic agents, but could be due to an increased rate of growth initiation to replace damaged developing follicles.[18] Antral follicle count decreases after three series of chemotherapy, whereas follicle stimulating hormone (FSH) reaches menopausal levels after four series.[19] Other hormonal changes in chemotherapy include decrease in inhibin B and anti-Müllerian hormone levels.[19]
Women may choose between several methods of fertility preservation prior to chemotherapy, including cryopreservation of ovarian tissue, oocytes or embryos.[20]
#### Immune infertility[edit]
Antisperm antibodies (ASA) have been considered as infertility cause in around 10–30% of infertile couples.[21] ASA production are directed against surface antigens on sperm, which can interfere with sperm motility and transport through the female reproductive tract, inhibiting capacitation and acrosome reaction, impaired fertilization, influence on the implantation process, and impaired growth and development of the embryo. Factors contributing to the formation of antisperm antibodies in women are disturbance of normal immunoregulatory mechanisms, infection, violation of the integrity of the mucous membranes, accidental rape and unprotected oral or anal sex.[21][22]
#### Other acquired factors[edit]
* Adhesions secondary to surgery in the peritoneal cavity is the leading cause of acquired infertility.[23] A meta-analysis in 2012 came to the conclusion that there is only little evidence for the surgical principle that using less invasive techniques, introducing less foreign bodies or causing less ischemia reduces the extent and severity of adhesions.[23]
* Diabetes mellitus. A review of type 1 diabetes came to the result that, despite modern treatment, women with diabetes are at increased risk of female infertility, such as reflected by delayed puberty and menarche, menstrual irregularities (especially oligomenorrhoea), mild hyperandrogenism, polycystic ovarian syndrome, fewer live born children and possibly earlier menopause.[24] Animal models indicate that abnormalities on the molecular level caused by diabetes include defective leptin, insulin and kisspeptin signalling.[24]
* Coeliac disease. Non-gastrointestinal symptoms of coeliac disease may include disorders of fertility, such as delayed menarche, amenorrea, infertility or early menopause; and pregnancy complications, such as intrauterine growth restriction (IUGR), small for gestational age (SGA) babies, recurrent abortions, preterm deliveries or low birth weight (LBW) babies. Nevertheless, gluten-free diet reduces the risk. Some authors suggest that physicians should investigate the presence of undiagnosed coeliac disease in women with unexplained infertility, recurrent miscarriage or IUGR.[25][26]
* Significant liver or kidney disease
* Thrombophilia[27][28]
* Cannabis smoking, such as of marijuana causes disturbances in the endocannabinoid system, potentially causing infertility[29]
* Radiation, such as in radiation therapy. The radiation dose to the ovaries that generally causes permanent female infertility is 20.3 Gy at birth, 18.4 Gy at 10 years, 16.5 Gy at 20 years and 14.3 Gy at 30 years.[30] After total body irradiation, recovery of gonadal function occurs in 10−14% of cases, and the number of pregnancies observed after hematopoietic stem cell transplantation involving such as procedure is lower than 2%.[31][32]
### Genetic factors[edit]
There are many genes wherein mutation causes female infertility, as shown in table below. Also, there are additional conditions involving female infertility which are believed to be genetic but where no single gene has been found to be responsible, notably Mayer-Rokitansky-Küstner-Hauser Syndrome (MRKH).[33] Finally, an unknown number of genetic mutations cause a state of subfertility, which in addition to other factors such as environmental ones may manifest as frank infertility.
Chromosomal abnormalities causing female infertility include Turner syndrome. Oocyte donation is an alternative for patients with Turner syndrome.[34]
Some of these gene or chromosome abnormalities cause intersex conditions, such as androgen insensitivity syndrome.
Genes wherein mutation causes female infertility[35] Gene Encoded protein Effect of deficiency
BMP15 Bone morphogenetic protein 15 Hypergonadotrophic ovarian failure (POF4)
BMPR1B Bone morphogenetic protein receptor 1B Ovarian dysfunction, hypergonadotrophic hypogonadism and acromesomelic chondrodysplasia
CBX2; M33 Chromobox protein homolog 2; Drosophila polycomb class
Autosomal 46,XY, male-to-female sex reversal (phenotypically perfect females)
CHD7 Chromodomain-helicase-DNA-binding protein 7 CHARGE syndrome and Kallmann syndrome (KAL5)
DIAPH2 Diaphanous homolog 2 Hypergonadotrophic, premature ovarian failure (POF2A)
FGF8 Fibroblast growth factor 8 Normosmic hypogonadotrophic hypogonadism and Kallmann syndrome (KAL6)
FGFR1 Fibroblast growth factor receptor 1 Kallmann syndrome (KAL2)
HFM1 Primary ovarian failure[36]
FSHR FSH receptor Hypergonadotrophic hypogonadism and ovarian hyperstimulation syndrome
FSHB Follitropin subunit beta Deficiency of follicle-stimulating hormone, primary amenorrhoea and infertility
FOXL2 Forkhead box L2 Isolated premature ovarian failure (POF3) associated with BPES type I; FOXL2
402C --> G mutations associated with human granulosa cell tumours
FMR1 Fragile X mental retardation Premature ovarian failure (POF1) associated with premutations
GNRH1 Gonadotropin releasing hormone Normosmic hypogonadotrophic hypogonadism
GNRHR GnRH receptor Hypogonadotrophic hypogonadism
KAL1 Kallmann syndrome Hypogonadotrophic hypogonadism and insomnia, X-linked Kallmann syndrome (KAL1)
KISS1R; GPR54 KISS1 receptor Hypogonadotrophic hypogonadism
LHB Luteinizing hormone beta polypeptide Hypogonadism and pseudohermaphroditism
LHCGR LH/choriogonadotrophin receptor Hypergonadotrophic hypogonadism (luteinizing hormone resistance)
DAX1 Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1 X-linked congenital adrenal hypoplasia with hypogonadotrophic hypogonadism; dosage-sensitive male-to-female sex reversal
NR5A1; SF1 Steroidogenic factor 1 46,XY male-to-female sex reversal and streak gonads and congenital lipoid adrenal hyperplasia; 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency
POF1B Premature ovarian failure 1B Hypergonadotrophic, primary amenorrhea (POF2B)
PROK2 Prokineticin Normosmic hypogonadotrophic hypogonadism and Kallmann syndrome (KAL4)
PROKR2 Prokineticin receptor 2 Kallmann syndrome (KAL3)
RSPO1 R-spondin family, member 1 46,XX, female-to-male sex reversal (individuals contain testes)
SRY Sex-determining region Y Mutations lead to 46,XY females; translocations lead to 46,XX males
SCNN1A Alpha subunit of Epithelial sodium channel (ENaC) Nonsense mutation leads to defective expression of ENaC in the female reproductive tract[37]
SOX9 SRY-related HMB-box gene 9
STAG3 Stromal antigen 3 Premature ovarian failure[38]
TAC3 Tachykinin 3 Normosmic hypogonadotrophic hypogonadism
TACR3 Tachykinin receptor 3 Normosmic hypogonadotrophic hypogonadism
ZP1 zona pellucida glycoprotein 1 Dysfunctional zona pellucida formation[39]
### By location[edit]
#### Hypothalamic-pituitary factors[edit]
* Hypothalamic dysfunction
* Hyperprolactinemia
#### Ovarian factors[edit]
* Chemotherapy (as detailed previously) with certain agents have a high risk of toxicity on the ovaries.
* Many genetic defects (as also detailed previously) also disturb ovarian function.
* Polycystic ovary syndrome (also see infertility in polycystic ovary syndrome)
* Anovulation. Female infertility caused by anovulation is called "anovulatory infertility", as opposed to "ovulatory infertility" in which ovulation is present.[40]
* Diminished ovarian reserve, also see Poor Ovarian Reserve
* Premature menopause
* Menopause
* Luteal dysfunction[41]
* Gonadal dysgenesis (Turner syndrome)
#### Tubal (ectopic)/peritoneal factors[edit]
Further information: Tubal factor infertility
* Endometriosis (also see endometriosis and infertility)
* Pelvic adhesions
* Pelvic inflammatory disease (PID, usually due to chlamydia)[42]
* Tubal dysfunction
* Previous ectopic pregnancy. A randomized study in 2013 came to the result that the rates of intrauterine pregnancy two years after treatment of ectopic pregnancy are approximately 64% with radical surgery, 67% with medication, and 70% with conservative surgery.[43] In comparison, the cumulative pregnancy rate of women under 40 years of age in the general population over two years is over 90%.[44]
* Hidrosalpinx is the most frequent. This happens when there is a presence of fluid on the tubes. We have some ways to test it: Hysterosalphingography, in which we can see both the uterus (Hystero) and the tubes. Hysterosonosalphingography, in which we see only the uterus. This tests are used to check if the tubes are permeable or if there is any obstacle in the path to the uterus. We have to introduce a liquid contrast via vagina, and we check its path via x-ray. If the tube is blocked, the contrast liquid will be stopped in the tubes, but if it’s not blocked, it will end in the abdominal cavity. The flow of this contrast needs peristaltic movements. This blockage can be produced by sexually transmitted diseases, previous surgery, peritonitis or endometriosis.
#### Uterine factors[edit]
* Uterine malformations[45]
* Uterine fibroids
* Asherman's syndrome[46]
* Implantation failure without any known primary cause. It results in negative pregnancy test despite having performed e.g. embryo transfer.
Previously, a bicornuate uterus was thought to be associated with infertility,[47] but recent studies have not confirmed such an association.[48]
#### Cervical factors[edit]
* Cervical stenosis[49]
* Antisperm antibodies[22]
* Non-receptive cervical mucus[50]
#### Vaginal factors[edit]
* Vaginismus
* Vaginal obstruction
## Diagnosis[edit]
Diagnosis of infertility begins with a medical history and physical exam. The healthcare provider may order tests, including the following:
* Lab tests
* Hormone testing, to measure levels of female hormones at certain times during a menstrual cycle.
* Day 2 or 3 measure of FSH and estrogen, to assess ovarian reserve.
* Measurements of thyroid function[51] (a thyroid stimulating hormone (TSH) level of between 1 and 2 is considered optimal for conception).
* Measurement of progesterone in the second half of the cycle to help confirm ovulation.
* Anti-Müllerian hormone to estimate ovarian reserve.[52]
* Examination and imaging
* An endometrial biopsy, to verify ovulation and inspect the lining of the uterus.
* Laparoscopy, which allows the provider to inspect the pelvic organs.
* Fertiloscopy, a relatively new surgical technique used for early diagnosis (and immediate treatment).
* Pap smear, to check for signs of infection.
* Pelvic exam, to look for abnormalities or infection.
* A postcoital test, which is done soon after intercourse to check for problems with sperm surviving in cervical mucous (not commonly used now because of test unreliability).
* Hysterosalpingography or sonosalpingography, to check for tube patency
* Sonohysterography to check for uterine abnormalities.
There are genetic testing techniques under development to detect any mutation in genes associated with female infertility.[35]
Initial diagnosis and treatment of infertility is usually made by obstetrician/gynecologists or women's health nurse practitioners. If initial treatments are unsuccessful, referral is usually made to physicians who are fellowship trained as reproductive endocrinologists. Reproductive endocrinologists are usually obstetrician/gynecologists with advanced training in reproductive endocrinology and infertility (in North America). These physicians treat reproductive disorders affecting not only women but also men, children, and teens.
Usually reproductive endocrinology & infertility medical practices do not see women for general maternity care. The practice is primarily focused on helping their women to conceive and to correct any issues related to recurring pregnancy loss.
### Definition[edit]
There is no unanimous definition of female infertility, because the definition depends on social and physical characteristics which may vary by culture and situation. NICE guidelines state that: "A woman of reproductive age who has not conceived after 1 year of unprotected vaginal sexual intercourse, in the absence of any known cause of infertility, should be offered further clinical assessment and investigation along with her partner."[44] It is recommended that a consultation with a fertility specialist should be made earlier if the woman is aged 36 years or over, or there is a known clinical cause of infertility or a history of predisposing factors for infertility.[44] According to the World Health Organization (WHO), infertility can be described as the inability to become pregnant, maintain a pregnancy, or carry a pregnancy to live birth.[53] A clinical definition of infertility by the WHO and ICMART is “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.” [54] Infertility can further be broken down into primary and secondary infertility. Primary infertility refers to the inability to give birth either because of not being able to become pregnant, or carry a child to live birth, which may include miscarriage or a stillborn child. [55][56] Secondary infertility refers to the inability to conceive or give birth when there was a previous pregnancy or live birth.[56][55]
## Prevention[edit]
Acquired female infertility may be prevented through identified interventions:
* Maintaining a healthy lifestyle. Excessive exercise, consumption of caffeine and alcohol, and smoking have all been associated with decreased fertility. Eating a well-balanced, nutritious diet, with plenty of fresh fruits and vegetables, and maintaining a normal weight, on the other hand, have been associated with better fertility prospects.
* Treating or preventing existing diseases. Identifying and controlling chronic diseases such as diabetes and hypothyroidism increases fertility prospects. Lifelong practice of safer sex reduces the likelihood that sexually transmitted diseases will impair fertility; obtaining prompt treatment for sexually transmitted diseases reduces the likelihood that such infections will do significant damage. Regular physical examinations (including pap smears) help detect early signs of infections or abnormalities.
* Not delaying parenthood. Fertility does not ultimately cease before menopause, but it starts declining after age 27 and drops at a somewhat greater rate after age 35.[57] Women whose biological mothers had unusual or abnormal issues related to conceiving may be at particular risk for some conditions, such as premature menopause, that can be mitigated by not delaying parenthood.
* Egg freezing. A woman can freeze her eggs preserve her fertility. By using egg freezing while in the peak reproductive years, a woman's oocytes are cryogenically frozen and ready for her use later in life, reducing her chances of female infertility.
## Treatment[edit]
There is no method to reverse advanced maternal age, but there are assisted reproductive technologies for many causes of infertility in pre-menopausal women, including:
* Ovulation induction for anovulation
* In vitro fertilization in for example tubal abnormalities
## Epidemiology[edit]
Female infertility varies widely by geographic location around the world. In 2010, there was an estimated 48.5 million infertile couples worldwide, and from 1990 to 2010 there was little change in levels of infertility in most of the world.[2] In 2010, the countries with the lowest rates of female infertility included the South American countries of Peru, Ecuador and Bolivia, as well as in Poland, Kenya, and Republic of Korea.[2] The highest rate regions included Eastern Europe, North Africa, the Middle East, Oceania, and Sub-Saharan Africa.[2] The prevalence of primary infertility has increased since 1990, but secondary infertility has decreased overall. Rates decreased (although not prevalence) of female infertility in high-income, Central/Eastern Europe, and Central Asia regions.[2]
### Africa[edit]
Sub-Saharan Africa has had decreasing levels of primary infertility from 1990 to 2010. Within the Sub-Saharan region, rates were lowest in Kenya, Zimbabwe, and Rwanda, while the highest rates were in Guinea, Mozambique, Angola, Gabon, and Cameroon along with Northern Africa near the Middle East.[2] According to a 2004 DHS report, rates in Africa were highest in Middle and Sub-Saharan Africa, with East Africa’s rates close behind.[56]
### Asia[edit]
In Asia, the highest rates of combined secondary and primary infertility was in the South Central region, and then in the Southeast region, with the lowest rates in the Western areas.[56]
### Latin America and Caribbean[edit]
The prevalence of female infertility in the Latin America/Caribbean region is typically lower than the global prevalence. However, the greatest rates occurred in Jamaica, Suriname, Haiti, and Trinidad and Tobago. Central and Western Latin America has some of the lowest rates of prevalence.[2] The highest regions in Latin America and the Caribbean was in the Caribbean Islands and in less developed countries.[56]
## Society and culture[edit]
### Social stigma[edit]
Social stigma due to infertility is seen in many cultures throughout the world in varying forms. Often, when women cannot conceive, the blame is put on them, even when approximately 50% of infertility issues come from the man .[58] In addition, many societies only tend to value a woman if she is able to produce at least one child, and a marriage can be considered a failure when the couple cannot conceive.[58] The act of conceiving a child can be linked to the couple’s consummation of marriage, and reflect their social role in society.[59] This is seen in the "African infertility belt", where infertility is prevalent in Africa which includes countries spanning from Tanzania in the east to Gabon in the west.[58] In this region, infertility is highly stigmatized and can be considered a failure of the couple to their societies.[58][60] This is demonstrated in Uganda and Nigeria where there is a great pressure put on childbearing and its social implications.[59] This is also seen in some Muslim societies including Egypt [61] and Pakistan.[62]
Wealth is sometimes measured by the number of children a woman has, as well as inheritance of property.[59][62] Children can influence financial security in many ways. In Nigeria and Cameroon, land claims are decided by the number of children. Also, in some Sub-Saharan countries women may be denied inheritance if she did not bear any children [62] In some African and Asian countries a husband can deprive his infertile wife of food, shelter and other basic necessities like clothing.[62] In Cameroon, a woman may lose access to land from her husband and left on her own in old age.[59]
In many cases, a woman who cannot bear children is excluded from social and cultural events including traditional ceremonies. This stigmatization is seen in Mozambique and Nigeria where infertile women have been treated as outcasts to society.[59] This is a humiliating practice which devalues infertile women in society.[63][64] In the Makua tradition, pregnancy and birth are considered major life events for a woman, with the ceremonies of nthaa´ra and ntha´ara no mwana, which can only be attended by women who have been pregnant and have had a baby.[63]
The effect of infertility can lead to social shaming from internal and social norms surrounding pregnancy, which affects women around the world.[64] When pregnancy is considered such an important event in life, and considered a “socially unacceptable condition”, it can lead to a search for treatment in the form of traditional healers and expensive Western treatments.[61] The limited access to treatment in many areas can lead to extreme and sometimes illegal acts in order to produce a child.[59][61]
### Marital role[edit]
Men in some countries may find another wife when their first cannot produce a child, hoping that by sleeping with more women he will be able to produce his own child.[59][61][62] This can be prevalent in some societies, including Cameroon,[59][62] Nigeria,[59] Mozambique,[63] Egypt,[61] Botswana,[65] and Bangladesh,[62] among many more where polygamy is more common and more socially acceptable.
In some cultures, including Botswana [65] and Nigeria,[59] women can select a woman with whom she allows her husband to sleep with in hopes of conceiving a child.[59] Women who are desperate for children may compromise with her husband to select a woman and accept duties of taking care of the children to feel accepted and useful in society.[65]
Women may also sleep with other men in hopes of becoming pregnant.[63] This can be done for many reasons including advice from a traditional healer, or finding if another man was "more compatible". In many cases, the husband was not aware of the extra sexual relations and would not be informed if a woman became pregnant by another man.[63] This is not as culturally acceptable however, and can contribute to the gendered suffering of women who have fewer options to become pregnant on their own as opposed to men.[61]
Men and women can also turn to divorce in attempt to find a new partner with whom to bear a child. Infertility in many cultures is a reason for divorce, and a way for a man or woman to increase his/her chances of producing an heir.[59][61][63][65] When a woman is divorced, she can lose her security that often comes with land, wealth, and a family.[65] This can ruin marriages and can lead to distrust in the marriage. The increase of sexual partners can potentially result with the spread of disease including HIV/AIDS, and can actually contribute to future generations of infertility.[65]
### Domestic abuse[edit]
The emotional strain and stress that comes with infertility in the household can lead to the mistreatment and domestic abuse of a woman. The devaluation of a wife due to her inability to conceive can lead to domestic abuse and emotional trauma such as victim blaming. Women are sometimes or often blamed as the cause of a couples' infertility, which can lead to emotional abuse, anxiety, and shame.[59] In addition, blame for not being able to conceive is often put on the female, even if it is the man who is infertile.[58] Women who are not able to conceive can be starved, beaten, and may be neglected financially by her husband as if she had no child bearing use to him.[62] The physical abuse related to infertility may result from this and the emotional stress that comes with it. In some countries, the emotional and physical abuses that come with infertility can potentially lead to assault, murder, and suicide.[66]
### Mental and psychological impact[edit]
Many infertile women tend to cope with immense stress and social stigma behind their condition, which can lead to considerable mental distress.[67] The long-term stress involved in attempting to conceive a child and the social pressures behind giving birth can lead to emotional distress that may manifest as mental disease.[68] Women who suffer from infertility might deal with psychological stressors such as denial, anger, grief, guilt, and depression.[69] There can be considerable social shaming that can lead to intense feelings of sadness and frustration that potentially contribute to depression and suicide.[65] The implications behind infertility bear huge consequences for the mental health of an infertile woman because of the social pressures and personal grief behind being unable to bear children.
## See also[edit]
* Advanced maternal age
* Fertility
* Infertility
* Male infertility
* Oncofertility
## References[edit]
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13. ^ Sloboda, D. M.; Hickey, M.; Hart, R. (2010). "Reproduction in females: the role of the early life environment". Human Reproduction Update. 17 (2): 210–227. doi:10.1093/humupd/dmq048. PMID 20961922.
14. ^ Freizinger M, Franko DL, Dacey M, Okun B, Domar AD (November 2008). "The prevalence of eating disorders in infertile women". Fertil. Steril. 93 (1): 72–8. doi:10.1016/j.fertnstert.2008.09.055. PMID 19006795.
15. ^ Koning AM, Kuchenbecker WK, Groen H, et al. (2010). "Economic consequences of overweight and obesity in infertility: a framework for evaluating the costs and outcomes of fertility care". Hum. Reprod. Update. 16 (3): 246–54. doi:10.1093/humupd/dmp053. PMID 20056674.
16. ^ How Cancer Treatments Can Affect Fertility in Women
17. ^ a b c Brydøy M, Fosså SD, Dahl O, Bjøro T (2007). "Gonadal dysfunction and fertility problems in cancer survivors". Acta Oncol. 46 (4): 480–9. doi:10.1080/02841860601166958. PMID 17497315. S2CID 20672988.
18. ^ a b Morgan, S.; Anderson, R. A.; Gourley, C.; Wallace, W. H.; Spears, N. (2012). "How do chemotherapeutic agents damage the ovary?". Human Reproduction Update. 18 (5): 525–35. doi:10.1093/humupd/dms022. PMID 22647504.
19. ^ a b Rosendahl, M.; Andersen, C.; La Cour Freiesleben, N.; Juul, A.; Løssl, K.; Andersen, A. (2010). "Dynamics and mechanisms of chemotherapy-induced ovarian follicular depletion in women of fertile age". Fertility and Sterility. 94 (1): 156–166. doi:10.1016/j.fertnstert.2009.02.043. PMID 19342041.
20. ^ Gurgan T, Salman C, Demirol A (October 2008). "Pregnancy and assisted reproduction techniques in men and women after cancer treatment". Placenta. 29 (Suppl B): 152–9. doi:10.1016/j.placenta.2008.07.007. PMID 18790328.
21. ^ a b Restrepo, B.; Cardona-Maya, W. (October 2013). "Antisperm antibodies and fertility association". Actas Urologicas Espanolas. 37 (9): 571–578. doi:10.1016/j.acuro.2012.11.003. ISSN 1699-7980. PMID 23428233.
22. ^ a b Rao, Kamini (2013-09-30). Principles & Practice of Assisted Reproductive Technology (3 Vols). JP Medical Ltd. ISBN 9789350907368.
23. ^ a b Ten Broek, R. P. G.; Kok- Krant, N.; Bakkum, E. A.; Bleichrodt, R. P.; Van Goor, H. (2012). "Different surgical techniques to reduce post-operative adhesion formation: A systematic review and meta-analysis". Human Reproduction Update. 19 (1): 12–25. doi:10.1093/humupd/dms032. PMID 22899657.
24. ^ a b Codner, E.; Merino, P. M.; Tena-Sempere, M. (2012). "Female reproduction and type 1 diabetes: From mechanisms to clinical findings". Human Reproduction Update. 18 (5): 568–585. doi:10.1093/humupd/dms024. PMID 22709979.
25. ^ Tersigni C, Castellani R, de Waure C, Fattorossi A, De Spirito M, Gasbarrini A, Scambia G, Di Simone N (2014). "Celiac disease and reproductive disorders: meta-analysis of epidemiologic associations and potential pathogenic mechanisms". Hum. Reprod. Update (Meta-Analysis. Review). 20 (4): 582–93. doi:10.1093/humupd/dmu007. PMID 24619876.
26. ^ Lasa, JS; Zubiaurre, I; Soifer, LO (2014). "Risk of infertility in patients with celiac disease: a meta-analysis of observational studies". Arq Gastroenterol (Meta-Analysis. Review). 51 (2): 144–50. doi:10.1590/S0004-28032014000200014. PMID 25003268.
27. ^ Middeldorp S (2007). "Pregnancy failure and heritable thrombophilia". Semin. Hematol. 44 (2): 93–7. doi:10.1053/j.seminhematol.2007.01.005. PMID 17433901.
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29. ^ Karasu, T.; Marczylo, T. H.; MacCarrone, M.; Konje, J. C. (2011). "The role of sex steroid hormones, cytokines and the endocannabinoid system in female fertility". Human Reproduction Update. 17 (3): 347–361. doi:10.1093/humupd/dmq058. PMID 21227997.
30. ^ Tichelli André; Rovó Alicia (2013). "Fertility Issues Following Hematopoietic Stem Cell Transplantation". Expert Rev Hematol. 6 (4): 375–388. doi:10.1586/17474086.2013.816507. PMID 23991924. S2CID 25139582.
In turn citing: Wallace WH, Thomson AB, Saran F, Kelsey TW (2005). "Predicting age of ovarian failure after radiation to a field that includes the ovaries". Int. J. Radiat. Oncol. Biol. Phys. 62 (3): 738–744. doi:10.1016/j.ijrobp.2004.11.038. PMID 15936554.
31. ^ Tichelli André; Rovó Alicia (2013). "Fertility Issues Following Hematopoietic Stem Cell Transplantation". Expert Rev Hematol. 6 (4): 375–388. doi:10.1586/17474086.2013.816507. PMID 23991924. S2CID 25139582.
32. ^
In turn citing: Salooja N, Szydlo RM, Socie G, et al. (2001). "Pregnancy outcomes after peripheral blood or bone marrow transplantation: a retrospective survey". Lancet. 358 (9278): 271–276. doi:10.1016/s0140-6736(01)05482-4. PMID 11498213. S2CID 20198750.
33. ^ Sultan C, Biason-Lauber A, Philibert P (January 2009). "Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings". Gynecol Endocrinol. 25 (1): 8–11. doi:10.1080/09513590802288291. PMID 19165657. S2CID 33461252.
34. ^ Bodri D, Vernaeve V, Figueras F, Vidal R, Guillén JJ, Coll O (March 2006). "Oocyte donation in patients with Turner's syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy". Hum. Reprod. 21 (3): 829–832. doi:10.1093/humrep/dei396. PMID 16311294.
35. ^ a b Unless otherwise specified in boxes, then reference is: The Evian Annual Reproduction (EVAR) Workshop Group 2010; Fauser, B. C. J. M.; Diedrich, K.; Bouchard, P.; Domínguez, F.; Matzuk, M.; Franks, S.; Hamamah, S.; Simón, C.; Devroey, P.; Ezcurra, D.; Howles, C. M. (2011). "Contemporary genetic technologies and female reproduction". Human Reproduction Update. 17 (6): 829–847. doi:10.1093/humupd/dmr033. PMC 3191938. PMID 21896560.
36. ^ Wang, Jian; Zhang, Wenxiang; Jiang, Hong; Wu, Bai-Lin (2014). "Mutations inHFM1in Recessive Primary Ovarian Insufficiency". New England Journal of Medicine. 370 (10): 972–974. doi:10.1056/NEJMc1310150. ISSN 0028-4793. PMID 24597873.
37. ^ Boggula VR, Hanukoglu I, Sagiv R, Enuka Y, Hanukoglu A (October 2018). "Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism". The Journal of Steroid Biochemistry and Molecular Biology. 183: 137–141. doi:10.1016/j.jsbmb.2018.06.007. PMID 29885352. S2CID 47010706.
38. ^ Caburet, Sandrine; Arboleda, Valerie A.; Llano, Elena; Overbeek, Paul A.; Barbero, Jose Luis; Oka, Kazuhiro; Harrison, Wilbur; Vaiman, Daniel; Ben-Neriah, Ziva; García-Tuñón, Ignacio; Fellous, Marc; Pendás, Alberto M.; Veitia, Reiner A.; Vilain, Eric (2014). "Mutant Cohesin in Premature Ovarian Failure". New England Journal of Medicine. 370 (10): 943–949. doi:10.1056/NEJMoa1309635. ISSN 0028-4793. PMC 4068824. PMID 24597867.
39. ^ Huang, Hua-Lin; Lv, Chao; Zhao, Ying-Chun; Li, Wen; He, Xue-Mei; Li, Ping; Sha, Ai-Guo; Tian, Xiao; Papasian, Christopher J.; Deng, Hong-Wen; Lu, Guang-Xiu; Xiao, Hong-Mei (2014). "Mutant ZP1 in Familial Infertility". New England Journal of Medicine. 370 (13): 1220–1226. doi:10.1056/NEJMoa1308851. ISSN 0028-4793. PMC 4076492. PMID 24670168.
40. ^ Hull MG, Savage PE, Bromham DR (June 1982). "Anovulatory and ovulatory infertility: results with simplified management". Br Med J (Clin Res Ed). 284 (6330): 1681–5. doi:10.1136/bmj.284.6330.1681. PMC 1498620. PMID 6805656.
41. ^ Luteal Phase Dysfunction at eMedicine
42. ^ Guven MA, Dilek U, Pata O, Dilek S, Ciragil P (2007). "Prevalence of Chlamydia trochomatis, Ureaplasma urealyticum and Mycoplasma hominis infections in the unexplained infertile women". Arch. Gynecol. Obstet. 276 (3): 219–23. doi:10.1007/s00404-006-0279-z. PMID 17160569. S2CID 1153686.
43. ^ Fernandez, H.; Capmas, P.; Lucot, J. P.; Resch, B.; Panel, P.; Bouyer, J. (2013). "Fertility after ectopic pregnancy: The DEMETER randomized trial". Human Reproduction. 28 (5): 1247–1253. doi:10.1093/humrep/det037. PMID 23482340.
44. ^ a b c Fertility: assessment and treatment for people with fertility problems. NICE clinical guideline CG156 - Issued: February 2013
45. ^ Raga F, Bauset C, Remohi J, Bonilla-Musoles F, Simón C, Pellicer A (1997). "Reproductive impact of congenital Müllerian anomalies". Hum. Reprod. 12 (10): 2277–81. doi:10.1093/humrep/12.10.2277. PMID 9402295.
46. ^ Magos A (2002). "Hysteroscopic treatment of Asherman's syndrome". Reprod. Biomed. Online. 4 (Suppl 3): 46–51. doi:10.1016/s1472-6483(12)60116-3. PMID 12470565.
47. ^ Shuiqing M, Xuming B, Jinghe L (2002). "Pregnancy and its outcome in women with malformed uterus". Chin. Med. Sci. J. 17 (4): 242–5. PMID 12901513.
48. ^ Proctor JA, Haney AF (2003). "Recurrent first trimester pregnancy loss is associated with uterine septum but not with bicornuate uterus". Fertil. Steril. 80 (5): 1212–5. doi:10.1016/S0015-0282(03)01169-5. PMID 14607577.
49. ^ Tan Y, Bennett MJ (2007). "Urinary catheter stent placement for treatment of cervical stenosis". The Australian & New Zealand Journal of Obstetrics & Gynaecology. 47 (5): 406–9. doi:10.1111/j.1479-828X.2007.00766.x. PMID 17877600. S2CID 22467867.
50. ^ Farhi J, Valentine A, Bahadur G, Shenfield F, Steele SJ, Jacobs HS (1995). "In-vitro cervical mucus-sperm penetration tests and outcome of infertility treatments in couples with repeatedly negative post-coital tests". Hum. Reprod. 10 (1): 85–90. doi:10.1093/humrep/10.1.85. PMID 7745077.
51. ^ Wartofsky L, Van Nostrand D, Burman KD (2006). "Overt and 'subclinical' hypothyroidism in women". Obstetrical & Gynecological Survey. 61 (8): 535–42. doi:10.1097/01.ogx.0000228778.95752.66. PMID 16842634. S2CID 6360685.
52. ^ Broer, S. L.; Broekmans, F. J. M.; Laven, J. S. E.; Fauser, B. C. J. M. (2014). "Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications". Human Reproduction Update. 20 (5): 688–701. doi:10.1093/humupd/dmu020. ISSN 1355-4786. PMID 24821925.
53. ^ World Health Organization 2013. "Health Topics: Infertility". Available http://www.who.int/topics/infertility/en/. Retrieved November 5, 2013.
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60. ^ Robert J. Leke, Jemimah A. Oduma, Susana Bassol-Mayagoitia, Angela Maria Bacha, and Kenneth M. Grigor. "Regional and Geographical Variations in Infertility: Effects of Environmental, Cultural, and Socioeconomic Factors" Environmental Health Perspectives Supplements (101) (Suppl. 2): 73-80 (1993).
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## External links[edit]
Classification
D
* ICD-10: N97.0
* ICD-9-CM: 628
* MeSH: D007247
* DiseasesDB: 4786
External resources
* MedlinePlus: 001191
* eMedicine: med/3535
* Patient UK: Female infertility
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
* v
* t
* e
Assisted reproductive technology
Infertility
* Female
* Male
* Fertility clinic
* Fertility testing
* Fertility tourism
* Male infertility crisis
Fertility medication
* Estrogen antagonists
* aromatase inhibitor
* clomifene
* FSH
* GnRH agonists
* Gonadotropins
* menotropins
* hCG
In vitro fertilisation (IVF)
and expansions
* Assisted zona hatching
* Autologous endometrial coculture
* Cytoplasmic transfer
* Embryo transfer
* Gestational carrier
* In vitro maturation
* Intracytoplasmic sperm injection
* Oocyte selection
* Ovarian hyperstimulation
* Preimplantation genetic diagnosis
* Transvaginal ovum retrieval
* Zygote intrafallopian transfer
Other methods
* Artificial insemination
* Ovulation induction
* Cryopreservation
* embryos
* oocyte
* ovarian tissue
* semen
* Gamete intrafallopian transfer
* Reproductive surgery
* Vasectomy reversal
* Selective reduction
* Sex selection
* Surrogacy
Donation
* Donor registration
* Donor Sibling Registry
* Egg donation
* Embryo
* Sperm
* Semen collection
* Sperm bank
* Ova bank
Ethics
* Accidental incest
* Genetic diagnosis of intersex
* Religious response to ART
* Mitochondrial donation
* Sex selection
In fiction
* See subsection in sperm donation
* Reproduction and pregnancy in speculative fiction
*[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
| Female infertility | c0021361 | 29,580 | wikipedia | https://en.wikipedia.org/wiki/Female_infertility | 2021-01-18T18:33:07 | {"mesh": ["D007247"], "umls": ["C0021361"], "icd-9": ["628"], "icd-10": ["N97.0"], "wikidata": ["Q648065"]} |
Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.
## Epidemiology
The prevalence in western Europe is estimated at about 1/25,000 and men are more affected than women.
## Clinical description
The disease manifests in adulthood. PCT is acquired (75% of cases) or familial (25% of cases). Generally manifestations of the disease appear earlier in familial cases. Some risk factors can precipitate symptoms: excessive consumption of alcohol, hepatitis C, estrogen, and mutations of the genes that control iron metabolism, leading to iron overload (hemochromatosis). The main clinical symptoms include firstly, extremely fragile skin and, subsequently, bullous cutaneous lesions on the surface of skin exposed to the sun (hands, face). Scarring is slow and often followed by hyper and hypopigmentation. The presence of cutaneous lesions of varying ages is very characteristic of the disease. With age, the disease manifestations can be accompanied by hypertrichosis (mainly facial) and sclerodermic signs. Hepatic lesions can also develop (siderosis, steatosis, necrosis and chronic inflammatory disorders).
## Etiology
PCT is caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). This deficiency, in the familial form of the disease, is a result of heterozygous mutations of the URO-D gene, coding for URO-D, and leads to an accumulation of porphyrins (URO and 7-carboxyl porphyrins) in the liver.
## Diagnostic methods
Diagnosis is based on the evidence of elevated concentrations of isocoproporphyrins in stools, a situation specific to PCT. Evidence of a deficiency of URO-D in red blood cells confirms a diagnosis of the familial form of PCT.
## Differential diagnosis
Differential diagnosis is mainly variegate porphyria (see this term), diagnosis of which rests on evidence of the characteristic fluorometric peak in plasma.
## Genetic counseling
Transmission is autosomal dominant and penetrance is weak. Genetic counseling should be offered to families affected by the familial form of PCT to identify individuals susceptible to developing or transmitting the disease.
## Management and treatment
Management includes firstly, the suppression of triggering factors, and subsequently, phlebotomy and/or taking a small dose of chloroquine (100mg twice a week). This allows complete remission whether or not there iron overload. A relapse is always possible, and treatment remains the same. Concomitant treatment of hepatitis C and cessation of alcohol consumption and use of hormonal contraceptives is essential for remission to occur.
## Prognosis
PCT is not life-threatening and the prognosis is favorable. However, it is a recognized risk factor for the development of hepatocellular 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
| Porphyria cutanea tarda | c0162566 | 29,581 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101330 | 2021-01-23T17:19:58 | {"gard": ["7433"], "mesh": ["D017119"], "omim": ["176090", "176100"], "umls": ["C0162566"], "icd-10": ["E80.1"], "synonyms": ["PCT"]} |
Although the term has occasionally been used in other ways, in medical literature biotrauma is usually defined as a severe inflammatory response produced in the lungs of patients who breathe by means of a mechanical ventilator for a long period of time.[1] The term was coined in a 1998 paper by L. N. Tremblay and A. S. Slutsky, titled Ventilator-induced injury: from barotrauma to biotrauma.[2] The message of that paper was that barotrauma caused by pressure differentials is only one of several types of lung damage that a ventilator can produce.
## References[edit]
1. ^ Halbertsma FJ, Vaneker M, Scheffer GJ, van der Hoeven JG (2005). "Cytokines and biotrauma in ventilator-induced lung injury: a critical review of the literature". Neth J Med. 63 (10): 382–92. PMID 16301759.
2. ^ Tremblay LN, Slutsky AS (1998). "Ventilator-induced injury: from barotrauma to biotrauma". Proc Assoc Am Physicians. 110 (6): 482–8. PMID 9824530.
* v
* t
* e
Mechanical ventilation
Fundamentals
* Modes of mechanical ventilation
* Mechanical ventilation in emergencies
* Nomenclature of mechanical ventilation
Modes
* IMV/SIMV
* CMV
* ACV
* CSV
* PAP
* BPAP/NIV
* CPAP
* APRV
* MMV
* PAV
* ASV
* HFV
Related illness
* ARDS
* Atelectotrauma
* Biotrauma
* Pulmonary barotrauma
* Pulmonary volutrauma
* Rheotrauma
* Ventilator-associated pneumonia
* Oxygen toxicity
* Ventilator-associated lung injury
Pressure
* PEEP
* FiO2
* ΔP
* PIP
* PS
* PAW
* Pplat
Volumes
* VT
* VE
* Vf
Other
* Cdyn
* Cstatic
* PAO2
* VD/VT
* OI
* A-a gradient
* Mechanical power
*[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
| Biotrauma | None | 29,582 | wikipedia | https://en.wikipedia.org/wiki/Biotrauma | 2021-01-18T18:43:13 | {"wikidata": ["Q4915381"]} |
Overview of obesity in the United States of America
Obesity in the United States is a major health issue resulting in numerous diseases, specifically increased risk of certain types of cancer, coronary artery disease, type 2 diabetes, stroke, as well as significant increases in early mortality and economic costs.
The CDC defines an adult (a person aged 20 years or greater) with a body mass index (BMI) of 30 or greater as obese and an adult with a BMI of 25.0 to 29.9 as overweight.[1] Obesity in adults is divided into three categories. Adults with a BMI of 30 to 34.9 have class 1 obesity; adults with a BMI of 35 to 39.9 have class 2 obesity; adults with a BMI of 40 or greater have class 3 obesity, which is also known as extreme or severe obesity.[2] Children (persons aged 2 to 19 years) with a BMI at or above the 95th percentile of children of the same age and sex are defined as obese, and children with a BMI at or above the 85th percentile but less than the 95th percentile are defined as overweight.[3]
Compared to non-obese Americans, obese Americans incur an average of $1,429 more in medical expenses annually, and the obese American population spends approximately $147 billion per year in added medical expenses.
The obesity rate has steadily increased since the initial 1962 recording of 23%. By 2014, figures from the CDC found that more than one-third (crude estimate 36.5%) of U.S. adults[4][5] and 17% of children were obese.[6] The National Center for Health Statistics at the CDC showed in their most up to date statistics that 42.4% of U.S. adults were obese as of 2017-2018 (43% for men and 41.9% for women).[7]
For the following statistics, adults is defined as age 20 and over. The overweight + obese percentages for the overall US population are higher reaching 39.4% in 1997, 44.5% in 2004,[8] 56.6% in 2007,[9] 63.8% (adults) and 17% (children) in 2008,[10][11] in 2010 65.7% of American adults and 17% of American children are overweight or obese, and 63% of teenage girls become overweight by age 11.[12] In 2013 the Organization for Economic Co-operation and Development (OECD) found that 57.6% of all American citizens were overweight or obese. The organization estimates that 3/4 of the American population will likely be overweight or obese by 2020.[13] According to research done by the Harvard T.H. Chan School of Public Health, it is estimated that around 40% of Americans are considered obese, and 18% are considered severely obese as of 2019. Severe obesity is defined as a BMI over 35 in the study. Their projections say that about half of the US population (48.9%) will be considered obese and nearly 1 in 4 (24.2%) will be considered severely obese by the year 2030.[14][15]
Obesity has been cited as a contributing factor to approximately 100,000–400,000 deaths in the United States per year[16] and has increased health care use and expenditures,[17][18][19][20] costing society an estimated $117 billion in direct (preventive, diagnostic, and treatment services related to weight) and indirect (absenteeism, loss of future earnings due to premature death) costs.[21] This exceeds health care costs associated with smoking[20] and accounts for 6% to 12% of national health care expenditures in the United States.[22][23]
## Contents
* 1 Epidemiology
* 2 Contributing factors
* 3 Effects on life expectancy
* 4 Prevalence
* 4.1 Race
* 4.1.1 Caucasian
* 4.1.2 Black or African American
* 4.1.3 American Indian or Alaska Native
* 4.1.4 Asian
* 4.1.5 Hispanic or Latino
* 4.1.6 Mexican or Mexican Americans
* 4.1.7 Native Hawaiian or other Pacific Islander
* 4.2 Sex
* 4.3 Age
* 4.3.1 Newborns
* 4.3.2 Children and teens
* 4.3.3 Adults
* 4.3.4 Elderly
* 4.4 Prevalence by state and territory
* 5 Total costs to the US
* 5.1 In the military
* 5.2 Accommodations
* 6 Anti-obesity efforts
* 6.1 Food labeling
* 7 See also
* 7.1 Documentaries
* 8 References
* 9 Further reading
* 10 External links
## Epidemiology[edit]
Main article: Epidemiology of obesity
Obesity is a chronic health problem. It is one of the biggest factors for type II diabetes and cardiovascular disease. It is also associated with cancer (e.g. colorectal cancer), osteoarthritis, liver disease, sleep apnea, depression, and other medical conditions that affect mortality and morbidity.[24]
According to NHANES data, African American and Mexican American adolescents between 12 and 19 years old are more likely to be overweight than non-Hispanic White adolescents. The prevalence is 21%, 23% and 14% respectively. Also, in a national survey of American Indian children 5–18 years old, 39 percent were found to be overweight or at risk for being overweight.[25] As per national survey data, these trends indicate that by 2030, 86.3% of adults will be overweight or obese and 51.1% obese.[26]
A 2007 study found that receiving food stamps long term (24 months) was associated with a 50% increased obesity rate among female adults.[27]
Looking at the long-term consequences, overweight adolescents have a 70 percent chance of becoming overweight or obese adults, which increases to 80 percent if one or more parent is overweight or obese. In 2000, the total cost of obesity for children and adults in the United States was estimated to be US$117 billion (US$61 billion in direct medical costs). Given existing trends, this amount is projected to range from US$860.7-956.9 billion in healthcare costs by 2030.[26]
Food consumption has increased over time. Annual per capita consumption of cheese was 4 pounds (1.8 kg) in 1909; 32 pounds (15 kg) in 2000; the average person consumed 389 grams (13.7 oz) of carbohydrates daily in 1970; 490 grams (17 oz) in 2000; 41 pounds (19 kg) of fats and oils in 1909; 79 pounds (36 kg) in 2000. In 1977, 18% of an average person's food was consumed outside the home; in 1996, this had risen to 32%.[28]
## Contributing factors[edit]
Obesity rates of adult females, 1960–2015
Numerous studies have attempted to identify contributing factors for obesity in the United States. Common factors include an overconsumption of food and an insufficient amount of physical exercise. Dieting properly can lower a person's body weight, but the public often fails to correctly determine what to eat and what not to eat as well as how much or how little they should. For example, while dieting, people tend to consume more low-fat or fat-free products, even though those items can be just as damaging to the body as the items containing fat. For the contributing factor of too little exercise, only a small amount (20%) of jobs require physical activity.[29]
Obesity rates of adult males, 1960–2015
Other factors not directly related to caloric intake and activity levels that are believed to contribute to obesity include air conditioning,[30] the ability to delay gratification, and the thickness of the prefrontal cortex of the brain.[31][better source needed][32] Genetics are also believed to be a factor, with a 2018 study stating that the presence of the human gene APOA2 could result in a higher BMI in individuals.[33] Also, the probability of obesity can even start before birth due to things that the mother does such as smoking and gaining a lot of weight.[29] Recently there has also been a "fat is beautiful" movement in the US, in which people who consider thin as more attractive than fat are accused of "fat-shaming".
## Effects on life expectancy[edit]
The United States' high obesity rate is a major contributor to its relatively low life expectancy relative to other high-income countries.[34] It has been suggested that obesity may lead to a halt in the rise in life expectancy observed in the United States during the 19th and 20th centuries.[35][36] In the event that obesity continues to grow in newer generations, a decrease in well being and life span in the future generations may continue to degenerate. According to Olshansky, obesity diminishes "the length of life of people who are severely obese by an estimated 5 to 20 years."[35] History shows that the number of years lost will continue to grow because the likelihood of obesity in new generations is higher. Children and teens are now experiencing obesity at younger ages. They are eating less healthy and are becoming less active, possibly resulting in less time lived compared to their parents' .[35] The life expectancy for newer generations can expect to be lower due to obesity and the health risks they can experience at a later age.
## Prevalence[edit]
The National Center for Health Statistics estimates that, for 2015–2016 in the U.S., 39.8% of adults aged 20 and over were obese (including 7.6% with severe obesity) and that another 31.8% were overweight.[37] In the NCHS update for 2018, statistics on severe obesity among U.S adults had already climbed to 9.2% while the total obesity prevalence had reached 42.4%. This also marked the first time in American history that the obesity rates had reached or exceeded 2/5 people in every adult age groups.[38]
Obesity rates have increased for all population groups in the United States over the last several decades.[16] Between 1986 and 2000, the prevalence of severe obesity (BMI ≥ 40 kg/m2) quadrupled from one in two hundred Americans to one in fifty. Extreme obesity (BMI ≥ 50 kg/m2) in adults increased by a factor of five, from one in two thousand to one in four hundred.[39]
There have been similar increases seen in children and adolescents, with the prevalence of overweight in pediatric age groups nearly tripling over the same period. Approximately nine million children over six years of age are considered obese. Several recent studies have shown that the rise in obesity in the US is slowing, possibly explained by saturation of health-oriented media.[39]
### Race[edit]
Rates of obesity in US by race based on 2015-2016 data
Obesity is distributed unevenly across racial groups in the United States.[40] Overall, the prevalence of obesity and severe obesity was highest among non-Hispanic black adults and lowest among non-Hispanic Asian adults. The prevalence of obesity among men was not significantly different between non-Hispanic white, non-Hispanic black, and Hispanic men.[7] Some of these races tend to populate low socio-economic status neighborhoods and therefore can lack the resources such as safe play areas, as well as grocery stores with affordable fruits and vegetables. Furthermore, minority households can be more prone to obesity because of cultural food preferences and family norms.[41]
#### Caucasian[edit]
The obesity rate for Caucasian adults 18 years and older (over 30 BMI) in the US in 2015 was 29.7%.[42] For adult Caucasian men, the rate of obesity was 31.1% in 2015.[43] For adult Caucasian women, the rate of obesity was 27.5% in 2015.[43] The most recent statistics from the NHANES of age adjusted obesity rates for Caucasian adults 20 years and older in the U.S. in 2016 was 37.9%.[44] The obesity rates of Caucasian males and Caucasian females from the NHANES 2016 data were relatively equivalent, obesity rates were 37.9% and 38.0%, respectively.[45]
#### Black or African American[edit]
The obesity rate for Black adults 18 years and older (over 30 BMI) in the US in 2015 was 39.8%.[42] For adult Black men, the rate of obesity was 34.4% in 2015.[43] For adult Black women, the rate of obesity was 44.7% in 2015.[43] The most recent statistics from the NHANES of age adjusted obesity rates for Black adults 20 years and older in the U.S. in 2016 was 46.8%. [44] According to the obesity rates from the NHANES 2016 data, black males had significantly lower than black females, their rates were 36.9% and 54.8%, respectively.[45]
#### American Indian or Alaska Native[edit]
The obesity rate for American Indian or Alaska Native adults (over 30 BMI) in the US in 2015 was 42.9%.[42] No breakdown by sex was given for American Indian or Alaska Native adults in the CDC figures.[42]
#### Asian[edit]
The obesity rate for Asian adults 18 years and older (over 30 BMI) in the US in 2015 was 10.7%.[42] No breakdown by sex was given for Asian adults in the CDC figures.[42] In more recent statistics from the NHANES in 2016 of a breakdown by sex was provided. Asian adults 20 years and older had a total obesity rate of 12.7%. The rate among Asian males was 10.1% and among Asian females it was 14.8%. Asian Americans have substantially lower rates of obesity than any other racial or ethnic group.
#### Hispanic or Latino[edit]
The obesity rate for the Hispanic or Latino adults 18 years and older category (over 30 BMI) in the US in 2015 was 31.8%.[42] For the overall Hispanic or Latino men category, the rate of obesity was 31.6% in 2015.[43] For the overall Hispanic or Latino women category, the rate of obesity was 31.9% in 2015.[43] According to the most recent statistics from the NHANES in 2016 Latino adults had the highest overall obesity rates. Latino Adults age 20 and older had reached an obesity rate of 47.0%.[44] Adult Latino men's rate was 43.1%, the highest of all males. For adult Latina women the rate was 50.6%, making them second to African-American women.[45]
#### Mexican or Mexican Americans[edit]
Within the Hispanic or Latino category, obesity statistics for Mexican or Mexican Americans were provided, with no breakdown by sex.[42] The obesity rate for Mexican or Mexican Americans adults (over 30 BMI) in the US in 2015 was 35.2%.[42]
#### Native Hawaiian or other Pacific Islander[edit]
The obesity rate for Native Hawaiian or other Pacific Islander adults (over 30 BMI) in the US in 2015 was 33.4%.[42] No breakdown by sex was given for Native Hawaiian or other Pacific Islander adults in the CDC figures.[42]
### Sex[edit]
Over 70 million adults in U.S. are obese (35 million men and 35 million women). 99 million are overweight (45 million women and 54 million men).[46] NHANES 2016 statistics showed that about 39.6% of American adults were obese. Men had an age-adjusted rate of 37.9% and Women had an age-adjusted rate of 41.1%.[44]
The CDC provided a data update in May 2017 stating that for adults 20 years and older, the crude obesity rate was 39.8% and the age adjusted rate was measured to be 39.7%. Including the obese, 71.6% of all American adults age 20 and above were overweight.[47][48]
### Age[edit]
Historically, obesity primarily affected adults. From the mid-1980s to 2003, obesity roughly doubled among U.S. children ages 2 to 5 and roughly tripled among young people over the age of 6, but statistics show that obesity in 2-6-year-olds has dropped, from 14.6% to 8.2%.[49] In recent years from 2015 to 2016, U.S. adults was 39.8% (crude). Overall, the prevalence among adults aged 40–59 (42.8%) was higher than among adults aged 20–39 (35.7%). No significant difference in prevalence was seen between adults aged 60 and over (41.0%) and younger age groups.[50]
#### Newborns[edit]
Mothers who are obese and become pregnant have a higher risk of complications during pregnancy and during birth, and their newborns are at greater risk for preterm birth, birth defects, and perinatal death. There are more possible risks to children born to obese mothers than pregnant women who are not obese. Newborns are also at risk for neurodevelopmental issues. Obese women are in the position to possibly put their child at risk for compromised neurodevelopmental outcomes. It is not known the whole effect that obesity can have on the neurodevelopment of the child. Reports concluded that "children born to mothers with gestational diabetes, which is linked with maternal obesity, are at a higher risk for lower cognitive test scores and behavioral problems."[51] Obese women are less likely to breastfeed their newborns, and those who start doing so are likely to stop sooner.[52] Children who were breastfed every extra week by age 2 had a lower chance of being obese if the hospitals were informative about breastfeeding with mothers or if mothers chose to breastfeed that played a role in the child's weight.[53][non-primary source needed]
#### Children and teens[edit]
Further information: Epidemiology of childhood obesity § United States
The rise of overweight among children aged 6–19 in the US
From 1980 to 2008, the prevalence of obesity in children aged 6 to 11 years tripled from 6.5% to 19.6%. The prevalence of obesity in teenagers more than tripled from 5% to 18.1% in the same time frame.[54] In less than one generation, the average weight of a child has risen by 5 kg in the United States.[55] In 2014 it was reported 17.2% of youth aged 2–19 were considered obese and another 16.2% were overweight.[56] Meaning, over one-third of children and teens in the US were overweight or obese. Statistics from a 2016-2017 page on the CDC's official website that 13.9% of toddlers and children age 2–5, 18.4% of children 6-11, and 20.6% of adolescents 12-19 are obese.[48] The prevalence of child obesity in today's society concerns health professionals because a number of these children develop health issues that weren't usually seen until adulthood.[57]
Some of the consequences in childhood and adolescent obesity are psychosocial. Overweight children and overweight adolescents are targeted for social discrimination, and thus, they begin to stress-eat.[58] The psychological stress that a child or adolescent can endure from social stigma can cause low self-esteem which can hinder a child's after school social and athletic capability, especially in plump teenage girls, and could continue into adulthood.[59] Teenage females are often overweight or obese by age 12, as, after puberty, teenage girls gain about 15 pounds, specifically in the arms, legs, and chest/midsection.[citation needed]
Data from NHANES surveys (1976–1980 and 2003–2006) show that the prevalence of obesity has increased: for children aged 2–5 years, prevalence increased from 5.0% to 12.4%; for those aged 6–11 years, prevalence increased from 6.5% to 19.6%; and for those aged 12–19 years, prevalence increased from 5.0% to 17.6%.[60]
In 2000, approximately 39% of children (ages 6–11) and 17% of adolescents (ages 12–19) were overweight and an additional 15% of children and adolescents were at risk of becoming overweight, based on their BMI.[61]
Analyses of the trends in high BMI for age showed no statistically significant trend over the four time periods (1999–2000, 2001–2002, 2003–2004, and 2005–2006) for either boys or girls. Overall, in 2003–2006, 11.3% of children and adolescents aged 2 through 19 years were at or above the 97th percentile of the 2000 BMI-for-age growth charts, 16.3% were at or above the 95th percentile, and 31.9% were at or above the 85th percentile.[62]
Trend analyses indicate no significant trend between 1999–2000 and 2007–2008 except at the highest BMI cut point (BMI for age 97th percentile) among all 6- through 19-year-old boys. In 2007–2008, 9.5% of infants and toddlers were at or above the 95th percentile of the weight-for-recumbent-length growth charts. Among children and adolescents aged 2 through 19 years, 11.9% were at or above the 97th percentile of the BMI-for-age growth charts; 16.9% were at or above the 95th percentile; and 31.7% were at or above the 85th percentile of BMI for age.[63]
In summary, between 2003 and 2006, 11.3% of children and adolescents were obese and 16.3% were overweight. A slight increase was observed in 2007 and 2008 when the recorded data shows that 11.9% of the children between 6 and 19 years old were obese and 16.9% were overweight. The data recorded in the first survey was obtained by measuring 8,165 children over four years and the second was obtained by measuring 3,281 children.
"More than 80 percent of affected children become overweight adults, often with lifelong health problems."[64] Children are not only highly at risk of diabetes, high cholesterol and high blood pressure but obesity also takes a toll on the child's psychological development. Social problems can arise and have a snowball effect, causing low self-esteem which can later develop into eating disorders.
#### Adults[edit]
There are more obese US adults than those who are just overweight.[65] According to a study in The Journal of the American Medical Association (JAMA), in 2008, the obesity rate among adult Americans was estimated at 32.2% for men and 35.5% for women; these rates were roughly confirmed by the CDC again for 2009–2010. Using different criteria, a Gallup survey found the rate was 26.1% for U.S. adults in 2011, up from 25.5% in 2008. Though the rate for women has held steady over the previous decade, the obesity rate for men continued to increase between 1999 and 2008, according to the JAMA study notes.[citation needed] Moreover, "The prevalence of obesity for adults aged 20 to 74 years increased by 7.9 percentage points for men and by 8.9 percentage points for women between 1976–1980 and 1988–1994, and subsequently by 7.1 percentage points for men and by 8.1 percentage points for women between 1988–1994 and 1999–2000."[66][67] According to the CDC, obesity has consistently remained the highest among middle-age adults since 2011. In the most recent update, 44.8% of Americans in their forties and fifties qualified as obese; meanwhile 40% of young adults and 42.4% of older adults were obese.[5][37][38]
#### Elderly[edit]
Although obesity is reported in the elderly, the numbers are still significantly lower than the levels seen in the young adult population. It is speculated that socioeconomic factors may play a role in this age group when it comes to developing obesity.[68] Obesity in the elderly increases healthcare costs.[clarification needed] Nursing homes are not equipped with the proper equipment needed to maintain a safe environment for the obese residents.[citation needed] If a heavy bedridden patient is not turned, the chances of a bed sore increases. If the sore is untreated, the patient will need to be hospitalized and have a wound vac placed.[69]
### Prevalence by state and territory[edit]
Adult obesity rates in the U.S. by state (2013)
20.2–24.0%
24.0–25.0%
25.0–26.8%
26.8–28.7%
28.7–30.4%
30.4–32.7%
32.7–34.0%
34.0–35.2%
Obesity rates in the U.S. by state (1985–2010)
The following figures were averaged from 2005 to 2007 adult data compiled by the CDC BRFSS program[70] and 2003–2004 child data[A] from the National Survey of Children's Health.[71][72] There is also data from a more recent 2016 CDC study of the 50 states plus the District of Columbia, Puerto Rico, the U.S. Virgin Islands and Guam.[73]
Care should be taken in interpreting these numbers, because they are based on self-report surveys which asked individuals (or, in case of children and adolescents, their parents) to report their height and weight. Height is commonly overreported and weight underreported, sometimes resulting in significantly lower estimates. One study estimated the difference between actual and self-reported obesity as 7% among males and 13% among females as of 2002, with the tendency to increase.[74]
The long-running REGARDS study, published in the journal of Obesity in 2014, brought in individuals from the nine census regions and measured their height and weight. The data collected disagreed with the data in the CDC's phone survey used to create the following chart. REGARDS found that the West North Central region (North Dakota, South Dakota, Minnesota, Missouri, Nebraska, and Iowa), and East North Central region (Illinois, Ohio, Wisconsin, Michigan, and Indiana) were the worst in obesity numbers, not the East South Central region (Tennessee, Mississippi, Alabama, Kentucky) as had been previously thought.[75] Dr. P.H., professor in the Department of Biostatistics in the UAB School of Public Health George Howard explains that "Asking someone how much they weigh is probably the second worst question behind how much money they make," "From past research, we know that women tend to under-report their weight, and men tend to over-report their height." Howard said as far as equivalency between the self-reported and measured data sets, the East South Central region showed the least misreporting. "This suggests that people from the South come closer to telling the truth than people from other regions, perhaps because there's not the social stigma of being obese in the South as there is in other regions."[76]
The area of the United States with the highest obesity rate is American Samoa (75% obese and 95% overweight).[77]
States, district,
& territories Obesity rank Obese adults (mid-2000s) Obese adults (2020)[78][73][79] Overweight (incl. obese) adults
(mid-2000s) Obese children and adolescents
(mid-2000s)[80]
Alabama 5 30.1% 36.3% 65.4% 16.7%
Alaska 9 27.3% 34.2% 64.5% 11.1%
American Samoa — — 75%[77] 95%[81] 35%[77][82]
Arizona 30 23.3% 29.5% 59.5% 12.2%
Arkansas 7 28.1% 35.0% 64.7% 16.4%
California 48 23.1% 25.1% 59.4% 13.2%
Colorado 51 21.0% 22.6% 55.0% 9.9%
Connecticut 42 20.8% 26.9% 58.7% 12.3%
Delaware 23 25.9% 31.8% 63.9% 22.8%
District of Columbia 50 22.1% 23.0% 55.0% 14.8%
Florida 35 23.3% 28.4% 60.8% 14.4%
Georgia 24 27.5% 31.6% 63.3% 16.4%
Guam — — 28.3% — 22%[83]
Hawaii 49 20.7% 23.8% 55.3% 13.3%
Idaho 32 24.6% 29.3% 61.4% 10.1%
Illinois 27 25.3% 31.1% 61.8% 15.8%
Indiana 12 27.5% 33.6% 62.8% 15.6%
Iowa 4 26.3% 36.4% 63.4% 12.5%
Kansas 18 25.8% 32.4% 62.3% 14.0%
Kentucky 8 28.4% 34.3% 66.8% 20.6%
Louisiana 6 29.5% 36.2% 64.2% 17.2%
Maine 33 23.7% 29.1% 60.8% 12.7%
Maryland 26 25.2% 31.3% 61.5% 13.3%
Massachusetts 44 20.9% 25.9% 56.8% 13.6%
Michigan 19 27.7% 32.3% 63.9% 14.5%
Minnesota 35 24.8% 28.4% 61.9% 10.1%
Mississippi 2 34.4% 37.3% 67.4% 17.8%
Missouri 17 27.4% 32.5% 63.3% 15.6%
Montana 46 21.7% 25.3% 59.6% 11.1%
Nebraska 15 26.5% 32.8% 63.9% 11.9%
Nevada 43 23.6% 26.7% 61.8% 12.4%
New Hampshire 38 23.6% 28.1% 60.8% 12.9%
New Jersey 41 22.9% 27.3% 60.5% 13.7%
New Mexico 35 23.3% 28.4% 60.3% 16.8%
New York 45 23.5% 25.7% 60.0% 15.3%
North Carolina 20 27.1% 32.1% 63.4% 19.3%
North Dakota 13 25.9% 33.2% 64.5% 12.1%
Northern Mariana Islands — — — — 16%[84]
Ohio 11 26.9% 33.8% 63.3% 14.2%
Oklahoma 3 28.1% 36.5% 64.2% 15.4%
Oregon 31 25.0% 29.4% 60.8% 14.1%
Pennsylvania 24 25.7% 31.6% 61.9% 13.3%
Puerto Rico — — 30.7% — 26%[85][86]
Rhode Island 29 21.4% 30.0% 60.4% 11.9%
South Carolina 10 29.2% 34.1% 65.1% 18.9%
South Dakota 22 26.1% 31.9% 64.2% 12.1%
Tennessee 15 29.0% 32.8% 65.0% 20.0%
Texas 14 27.2% 33.0% 64.1% 19.1%
Utah 46 21.8% 25.3% 56.4% 8.5%
Vermont 40 21.1% 27.6% 56.9% 11.3%
Virgin Islands (U.S.) — — 32.5% — —
Virginia 28 25.2% 30.1% 61.6% 13.8%
Washington 39 24.5% 27.7% 60.7% 10.8%
West Virginia 1 30.6% 38.1% 66.8% 20.9%
Wisconsin 21 25.5% 32.0% 62.4% 13.5%
Wyoming 34 24.0% 28.8% 61.7% 8.7%
^ Except territories, whose data is from the late 2000s to 2010s
## Total costs to the US[edit]
There has been an increase in obesity-related medical problems, including type II diabetes, hypertension, cardiovascular disease, and disability.[87][17] In particular, diabetes has become the seventh leading cause of death in the United States,[88] with the U.S. Department of Health and Human Services estimating in 2008 that fifty-seven million adults aged twenty and older were pre-diabetic, 23.6 million diabetic, with 90–95% of the latter being type 2-diabetic.[89]
Obesity has also been shown to increase the prevalence of complications during pregnancy and childbirth. Babies born to obese women are almost three times as likely to die within one month of birth and almost twice as likely to be stillborn than babies born to women of normal weight.[90]
Obesity has been cited as a contributing factor to approximately 100,000–400,000 deaths in the United States per year[16] (including increased morbidity in car accidents)[91] and has increased health care use and expenditures,[17][18][19][20] costing society an estimated $117 billion in direct (preventive, diagnostic, and treatment services related to weight) and indirect (absenteeism, loss of future earnings due to premature death) costs.[21] This exceeds health-care costs associated with smoking or problem drinking[20] and, by one estimate, accounts for 6% to 12% of national health care expenditures in the United States[22] (although another estimate states the figure is between 5% and 10%).[92]
The Medicare and Medicaid programs bear about half of this cost.[20] Annual hospital costs for treating obesity-related diseases in children rose threefold, from US$35 million to US$127 million, in the period from 1979 to 1999,[93] and the inpatient and ambulatory healthcare costs increased drastically by US$395 per person per year.[19]
These trends in healthcare costs associated with pediatric obesity and its comorbidities are staggering, urging the Surgeon General to predict that preventable morbidity and mortality associated with obesity may surpass those associated with cigarette smoking.[18][94] Furthermore, the probability of childhood obesity persisting into adulthood is estimated to increase from approximately twenty percent at four years of age to approximately eighty percent by adolescence,[95] and it is likely that these obesity comorbidities will persist into adulthood.[96]
### In the military[edit]
An estimated 16% percent of active duty U.S. military personnel were obese in 2004, with the cost of remedial bariatric surgery for the military reaching US$15 million in 2002. Obesity is currently the largest single cause for the discharge of uniformed personnel.[97] A financial analysis published in 2007 further showed that the treatment of diseases and disorders associated with obesity costs the military $1.1 billion annually. Moreover, the analysis found that the increased absenteeism of obese or overweight personnel amounted to a further 658,000 work days lost per year. This lost productivity is higher than the productivity loss in the military due to high alcohol consumption which was found to be 548,000 work days. Problems associated with obesity further manifested itself in early discharge due to inability to meet weight standards. Approximately 1200 military enlistees were discharged due to this reason in 2006.[98]
The rise in obesity has led to fewer citizens able to join the military and therefore more difficulty in recruitment for the armed forces. In 2005, 9 million adults aged 17 to 24, or 27%, were too overweight to be considered for service in the military.[99] For comparison, just 6% of military aged men in 1960 would have exceed the current weight standards of the U.S. military. Excess weight is the most common reason for medical disqualification and accounts for the rejection of 23.3% of all recruits to the military. Of those who failed to meet weight qualifications but still entered the military, 80% left the military before completing their first term of enlistment.[100] In light of these developments, organizations such as Mission: Readiness, made up of retired generals and admirals, have advocated for focusing on childhood health education to combat obesity's effect on the military.[101]
### Accommodations[edit]
[102] Along with obesity came the accommodations made of American products. Child-safety seats in 2006 became modified for the 250,000 obese U.S. children ages six and below.[103] The obese incur extra costs for themselves and airlines when flying. Weight is a major component to the formula that goes into the planes take off and for it to successfully fly to the desired destination. Due to the weight limits taken in consideration for flight in 2000, airlines spent $275 million on 350 million additional gallons of fuel for compensation of additional weight to travel.[103] Accommodations have also been made in work place environments for workers, including those such as chairs with no armrests and access to work outside of the office.[104]
## Anti-obesity efforts[edit]
The National Center for Health Statistics reported in November 2015:
> Trends in obesity prevalence show no increase among youth since 2003–2004, but trends do show increases in both adults and youth from 1999–2000 through 2013–2014. No significant differences between 2011–2012 and 2013–2014 were seen in either youth or adults.[105]
Under pressure from parents and anti-obesity advocates, many school districts moved to ban sodas, junk foods, and candy from vending machines and cafeterias.[106] State legislators in California, for example, passed laws banning the sale of machine-dispensed snacks and drinks in elementary schools in 2003, despite objections by the California-Nevada Soft Drink Association. The state followed more recently with legislation to prohibit their soda sales in high schools starting July 1, 2009, with the shortfall in school revenue to be compensated by an increase in funding for school lunch programs.[107] A similar law passed by the Connecticut General Assembly in June 2005 was vetoed by governor Jodi Rell, who stated the legislation "undermines the control and responsibility of parents with school-aged children."[108]
In mid-2006, the American Beverage Association (including Cadbury, Coca-Cola, and PepsiCo) agreed to a voluntary ban on the sale of all high-calorie drinks and all beverages in containers larger than 8, 10 and 12 ounces in elementary, middle and high schools, respectively.[109][110]
Non-profit organizations such as HealthCorps work to educate people on healthy eating and advocate for healthy food choices in an effort to combat obesity.[111]
Former American First Lady Michelle Obama led an initiative to combat childhood obesity entitled "Let's Move!". Obama said she aimed to wipe out obesity "in a generation". Let's Move! has partnered with other programs.[112] Walking and bicycling to school helps children increase their physical activity.[24]
In 2008, the state of Pennsylvania enacted a law, the "School Nutrition Policy Initiative," aimed at the elementary level. These "interventions included removing all sodas, sweetened drinks, and unhealthy snack foods from selected schools, 'social marketing' to encourage the consumption of nutritious foods and outreach to parents."[113] The results were a "50 percent drop in incidence of obesity and overweight", as opposed to those individuals who were not part of the study.[113]
In the past decade, there have been school-based programs that target the prevention and management of childhood obesity. There is evidence that long term school-based programs have been effective in reducing the prevalence of childhood obesity.[114]
For two years, Duke University psychology and global health professor Gary Bennett and eight colleagues followed 365 obese patients who had already developed hypertension. They found that regular medical feedback, self-monitoring, and a set of personalized goals can help obese patients in a primary care setting lose weight and keep it off.[115]
Major U.S. manufacturers of processed food, aware of the possible contribution of their products to the obesity epidemic, met together and discussed the problem as early as April 8, 1999; however, a proactive strategy was considered and rejected. As a general rule, optimizing the amount of salt, sugar and fat in a product will improve its palatability, and profitability. Reducing salt, sugar and fat, for the purpose of public health, had the potential to decrease palatability and profitability.[116]
Media influence may play an important role in prevention of obesity as it has the ability to boost many of the main prevention/intervention methods used nowadays including lifestyle modification. The media is also highly influential on children and teenagers as it promotes healthy body image and sets societal goals for lifestyle improvement. Examples of media influence are support for the "Let's Move!" campaign and the MyPlate program initiated by Michelle Obama, and the NFL's Play60 campaign. These campaigns promote physical activity in an effort to reduce obesity especially for children.[117]
In 2011, the Obama administration introduced a $400 million Healthy Food Financing Initiative, the goal of the program is to "create jobs and economic development, and establish market opportunities for farmers and ranchers," as described by the secretary of agriculture, Tom Vilsack.[118]
### Food labeling[edit]
Ultimately, federal and local governments in the U.S. are willing to create political solutions that will reduce obesity ratings by "recommending nutrition education, encouraging exercise, and asking the food and beverage industry to promote healthy practices voluntarily."[113] In 2008, New York City was the first city to pass a "labeling bill" that "require[d] restaurants" in several cities and states to "post the caloric content of all regular menu items, in a prominent place and using the same font and format as the price."[113]
## See also[edit]
* United States portal
* EPODE International Network, the world's largest obesity-prevention network
* Fat acceptance movement
* Hunger in the United States
* List of countries by Body Mass Index (BMI)
* Obesogen
* World Fit, a program of the United States Olympic Committee
### Documentaries[edit]
* Fed Up
* Soul Food Junkies
* Super Size Me
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## Further reading[edit]
* Knowlton, Laura (Autumn 2007). "Reading American Fat in France : Obesity and Food Culture". European Journal of American Studies. 2 (2).
## External links[edit]
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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
*[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
| Obesity in the United States | None | 29,583 | wikipedia | https://en.wikipedia.org/wiki/Obesity_in_the_United_States | 2021-01-18T19:05:57 | {"wikidata": ["Q2908457"]} |
Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.
*[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
| Idiopathic posterior uveitis | None | 29,584 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280917 | 2021-01-23T18:15:54 | {"icd-10": ["H30.9"]} |
Axial osteomalacia is a rare osteosclerotic disorder first described by Frame et al. (1961). Characteristically, trabecular bone has 'a unique coarsening and spongelike appearance in the x-rays of the axial skeleton.' Radiographically, the skull and appendicular skeleton are normal. Vague chronic axial skeletal pain is the presenting symptom in most patients. Despite osteosclerosis and normal circulating levels of calcium, inorganic phosphate and alkaline phosphatase, bone biopsy specimens show osteomalacia. Until the report of Whyte et al. (1981), 10 cases had been described, all in middle-aged or elderly white men. Whyte et al. (1981) showed that it can occur in blacks, in females, in family clusters, and in association with polycystic kidney and liver disease. They reported affected mother and son. The son, who showed x-ray changes as early as age 22, had an unexplained myopathy characterized by proximal weakness, persistently elevated circulating creatine phosphokinase levels, and myopathic changes on muscle biopsy. The authors suggested that this is a disorder of vitamin D action. (Muscular weakness is conspicuous also in vitamin D deficiency.) It may be a pleiotropic disorder with polycystic kidney as a feature. This may be the same disorder as that described elsewhere under the designation osteomesopyknosis (166450).
Radiology \- Unique coarsening and spongelike appearance of trabecular bone of axial skeleton \- Normal skull and appendicular skeleton Inheritance \- Autosomal dominant \- ? same as osteomesopyknosis (166450) Misc \- Associated polycystic kidney and liver disease Lab \- Normal blood calcium, inorganic phosphate and alkaline phosphatase \- Osteomalacia on bone biopsy \- Elevated circulating creatine phosphokinase \- Myopathic changes on muscle biopsy Skel \- Osteosclerosis \- Vague chronic axial skeletal pain Muscle \- Myopathy \- Proximal muscle weakness ▲ 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
| AXIAL OSTEOMALACIA | c1862372 | 29,585 | omim | https://www.omim.org/entry/109130 | 2019-09-22T16:44:38 | {"mesh": ["C537791"], "omim": ["109130"]} |
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: "Boutonniere deformity" – news · newspapers · books · scholar · JSTOR (October 2008) (Learn how and when to remove this template message)
Boutonniere deformity
Human hand bones (Joints visible but not labeled.)
SpecialtyRheumatology
Boutonniere deformity is a deformed position of the fingers or toes, in which the joint nearest the knuckle (the proximal interphalangeal joint, or PIP) is permanently bent toward the palm while the farthest joint (the distal interphalangeal joint, or DIP) is bent back away (PIP flexion with DIP hyperextension). Causes include injury,[1] inflammatory conditions like rheumatoid arthritis, and genetic conditions like Ehlers-Danlos syndrome.[2]
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 2.1 Stages
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Pathophysiology[edit]
Boutonniere deformity in a patient with rheumatoid arthritis
This flexion deformity of the proximal interphalangeal joint is due to interruption of the central slip of the extensor tendon such that the lateral slips separate and the head of the proximal phalanx pops through the gap like a finger through a button hole (thus the name, from French boutonnière "button hole"). The distal joint is subsequently drawn into hyperextension because the two peripheral slips of the extensor tendon are stretched by the head of the proximal phalanx (note that the two peripheral slips are inserted into the distal phalanx, while the proximal slip is inserted into the middle phalanx). This deformity makes it difficult or impossible to extend the proximal interphalangeal joint.
## Diagnosis[edit]
### Stages[edit]
1. Mild extension lag, passively correctable
2. Moderate extension lag, passively correctable
3. Mild flexion contracture
4. Advanced flexion contracture
Higher numbers indicate a more severe problem and greater likelihood of a poor final outcome.
## Treatment[edit]
Usually treated with a splint placing the proximal interphalangeal joint in extension for 4–6 weeks. Occasionally surgery is needed when splinting is unsuccessful.
## See also[edit]
* Swan neck deformity
* Z-deformity
## References[edit]
1. ^ "Boutonniére Deformity". Your Orthopaedic Connection. American Academy of Orthopaedic Surgeons. Retrieved 15 April 2018.
2. ^ "Boutonniere Deformity".
## External links[edit]
Classification
D
* ICD-10: M20.0
* ICD-9-CM: 736.21
External resources
* eMedicine: orthoped/24
* Boutonniere Deformity at eMedicine
* v
* t
* e
Acquired musculoskeletal deformities
Upper limb
shoulder
* Winged scapula
* Adhesive capsulitis
* Rotator cuff tear
* Subacromial bursitis
elbow
* Cubitus valgus
* Cubitus varus
hand deformity
* Wrist drop
* Boutonniere deformity
* Swan neck deformity
* Mallet finger
Lower limb
hip
* Protrusio acetabuli
* Coxa valga
* Coxa vara
leg
* Unequal leg length
patella
* Luxating patella
* Chondromalacia patellae
* Patella baja
* Patella alta
foot deformity
* Bunion/hallux valgus
* Hallux varus
* Hallux rigidus
* Hammer toe
* Foot drop
* Flat feet
* Club foot
knee
* Genu recurvatum
Head
* Cauliflower ear
General terms
* Valgus deformity/Varus deformity
* Joint stiffness
* Ligamentous laxity
*[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
| Boutonniere deformity | c0158476 | 29,586 | wikipedia | https://en.wikipedia.org/wiki/Boutonniere_deformity | 2021-01-18T18:49:35 | {"icd-9": ["736.21"], "icd-10": ["M20.0"], "wikidata": ["Q1777414"]} |
A number sign (#) is used with this entry because of evidence that lactase persistence is associated with noncoding variation in the MCM6 gene (601806) upstream of the lactase gene (603202), in a region that appears to act as a cis element capable of enhancing differential transcriptional activation of the lactase promoter.
Description
In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).
Clinical Features
Montgomery et al. (1991) stated that in those humans who have low lactase activity as adults, the decline occurs at approximately 3 to 5 years of age. They suggested that the developmental pattern of lactase expression is probably regulated at the level of gene transcription.
Adult-onset lactase decline appears to be a risk factor for developing osteoporosis, owing to avoidance of dairy products or interference of undigested lactose with calcium absorption (Lee and Krasinski, 1998). Elderly with both adult-onset lactase decline and atrophic gastritis or those undergoing anti-ulcer treatment may have an increased risk of low calcium absorption owing to the lack of gastric acid that facilitates calcium uptake.
Population Genetics
Cuatrecasas et al. (1965) found that 3 of 19 whites and 11 of 42 blacks had deficient absorption of lactose.
Studies in groups around the world confirmed that adult lactase deficiency is a racial characteristic (Bayless and Rosensweig (1966, 1967)). Family studies demonstrated autosomal recessive inheritance. In most tropical and in all subtropical countries and East Asian populations, lactase deficiency is an inappropriate term for a trait that is present in most adult humans. Both high and low lactase activity in healthy adult humans is normal; thus, hereditary persistence of intestinal lactase is a more appropriate designation.
Isolated lactase deficiency of adulthood was found to be more frequent in the American Indian than in Caucasians (Welsh et al., 1967). Lactose intolerance is also present in a great majority of adult Orientals (Huang and Bayless, 1968). Cook (1967) found that in Africans the deficiency developed in the first 4 years and sometimes in the first 6 months.
Welsh (1970) reviewed reports of a high frequency in American blacks, Africans, Asians, Greek Cypriots, Australian Aborigines, and South American Indians. The family data of Welsh (1970) indicated a genetic basis but gave no conclusive indication of the mode of inheritance. From the findings in children of African-European matings, Kretchmer (1972) concluded that lactose tolerance, which on a worldwide basis is the rarer state, is dominant. Flatz and Rotthauwe (1973) suggested that the present-day higher frequency of adult lactose tolerance in some populations is due not to a nonspecific nutritional advantage of milk but rather to a specific advantage, namely, lactose-induced enhancement of calcium absorption.
Baer (1970) suggested that the development of yogurt was a compensation for the intestinal lactase deficiency in countries with a high frequency of the disorder.
Nomenclature
Rahimi et al. (1976) suggested 'persistence of high intestinal lactase activity' as the appropriate term because (1) high intestinal lactase in adults is the unusual situation in all mammals, including man; (2) 'lactase deficiency' implies a pathologic state; and (3) lactose intolerance is misleading because not all lactose malabsorbers have symptoms. The parallel to persistence of fetal hemoglobin is perhaps valid. The intolerant genotype might be symbolized pla-pla.
Inheritance
Because of a strong correlation with low milk consumption, Cuatrecasas et al. (1965) concluded that lactose intolerance was an acquired trait among 3 of 19 whites and 11 of 42 blacks with deficient absorption of lactose. Loss of symptoms with prolonged lactose intake and decreased absorption with milk restriction seemed to support this conclusion. They noted that 'genetic polymorphism is not, however, excluded.'
That adult lactose intolerance and the deficiency of intestinal lactase that underlies it is a genetic polymorphism was strongly indicated by the study of Bayless and Rosensweig (1966, 1967) in 20 black and 20 white nonpatient volunteers from a penal institution. They demonstrated that low levels of intestinal lactase activity correlated well with a history of milk intolerance which usually had begun during or after adolescence. They concluded that lactose tolerance/intolerance is a genetic polymorphism like colorblindness and ABO blood type.
Rosensweig et al. (1967) found 3 groups defined by lactase level and suggested that these correspond to the genotypes in a diallelic system. Some heterozygotes in their classification had milk- and lactose-induced symptoms.
In a study in Finland, Sahi (1974) produced strong evidence of autosomal recessive inheritance.
Ho et al. (1982) studied allele frequencies of lactase persistence in adult British natives by assaying sucrase simultaneously with lactase under conditions that gave optimal activities for both enzymes. The material for study was obtained at autopsy from the lower jejunum in cases of road traffic accidents and other causes of sudden death such as myocardial infarction. A trimodal distribution in the ratios of enzyme activities was demonstrated. Ho et al. (1982) concluded that the trimodal distribution was due to the different levels of lactase activity in the 3 genotypes (homozygous persistent, heterozygous, and homozygous nonpersistent) and that it is possible to correct for 'nongenetic' variation by using sucrase as an internal standard. The allele frequency for lactase persistence was estimated to be 0.747. The authors commented that if a regulatory gene mutation is involved in lactase persistence, as has been suggested, leading to persistence of infant lactase into adult life, then the regulatory gene is probably cis-dominant; only then would one expect intermediate values in the heterozygotes. Evidence on whether the adult and infant lactases are structurally different was conflicting. Primary postweaning hypolactasia is generally present in subhuman mammals. It is therefore reasonable to assume that hypolactasia predominated in early man and that the human adult lactase polymorphism evolved in the neolithic period after animal milk became available for nutrition of older children and adults.
Biochemical Features
The form of intestinal lactase deficiency present in adults was called primary hypolactasia by Ferguson and Maxwell (1967) as contrasted with hereditary alactasia, the disorder causing diarrhea in infancy (223000). These authors described affected brother and sister with normal parents. In patients with intestinal malabsorption (e.g., tropical sprue), Gray et al. (1969) found that of the 2 lactases with different pH optima found in normal intestine, only enzyme I with a pH optimum of 6.0 and molecular weight of 280,000 was absent. Similar studies in adult intestinal lactase deficiency without malabsorption are indicated.
Potter et al. (1985) found that adult and infant intestinal lactases were indistinguishable by titration or immunodiffusion against polyclonal rabbit antibodies. Adults low in lactase activity were also low in cross-reacting material. This suggests that lactase persistence is due to the continued synthesis of the infant enzyme. Flatz (1989) used the terms lactase persistence and lactase restriction for the 2 phenotypes, and LAC*P and LAC*R for the alleles. They found that restriction is recessive; only the LAC*R/LAC*R genotype is accompanied by low lactose digestion capacity. Lactase (EC 3.2.1.23) of the small-intestinal brush border membrane also has phlorizin hydrolase (EC 3.2.1.62) activity. This is the enzyme that is involved in the most frequent genetic disturbance in man, adult-type hypolactasia, which affects one-third to one-half of mankind. In this condition both lactase activity and phlorizin hydrolase activity decline to levels 5 to 10% of those at birth.
Sebastio et al. (1989) found that adult rabbits and rats express high levels of lactase mRNA despite the fact that lactase activity in the intestinal tract remains at a very low level. Furthermore, in adult humans with hypolactasia and those with persistent high lactase activity, no clear difference was found in the level of mRNA. Both of these sets of results indicate a posttranscriptional control of lactase expression. Freund et al. (1989) likewise found that in suckling and adult rats and pigs lactase-phlorizin hydrolase mRNA levels were similar.
Witte et al. (1990) studied the synthesis and processing of lactase in normal and adult hypolactasic subjects, using human intestinal explants in organ culture. Metabolic labeling experiments demonstrated that newly synthesized lactase is initially recognized as a precursor molecule with a relative molecular weight of 205,000. Over the course of several hours, most of the labeled lactase was converted to a mature form of 150,000 M(r). Transiently appearing forms of 215,000 and 190,000 M(r) were identified and were thought to represent intermediary species generated during intracellular processing. In adult hypolactasia, Witte et al. (1990) identified 2 distinct alterations: in 3 deficient subjects, synthesis of the precursor protein was markedly reduced, although posttranslational processing appeared to be identical to that in the normal. In a fourth deficient subject, ample amounts of precursor lactase was synthesized, but conversion to the mature, active form of the enzyme was reduced.
To study the molecular basis of adult human 'lactase deficiency,' Escher et al. (1992) analyzed small intestinal biopsies from Oriental, black, and white patients. Samples were assayed for lactase- and sucrase-specific activities and the sucrase/lactase ratio (high ratio signifies lactase deficiency), and the results were compared to lactase mRNA levels detected in Northern blots probed with a human lactase cDNA. All Oriental patients had high ratios and no detectable lactase mRNA. Four black patients had a similar pattern; 2 with low ratios had detectable mRNA. The white patients displayed a range of findings, from high ratio/no mRNA to low ratio/considerable mRNA. Elevated levels of lactase mRNA always correlated with elevated levels of lactase enzyme activity, suggesting that the difference in levels of adult human intestinal lactase activity among racial groups may be regulated at the level of gene transcription.
Molecular Genetics
Before the studies by Wang et al. (1995), it had not been clear whether the sequence differences responsible for lactase persistence/nonpersistence reside within or adjacent to the lactase gene itself (603202) or in a trans-acting factor. Wang et al. (1995) exploited DNA polymorphisms within the exons of the lactase gene to examine the expression of the individual lactase mRNA transcripts from persistent and nonpersistent individuals in order to determine whether the regulation is in cis or trans. They found that in certain lactase-persistent individuals one allele of the lactase gene is expressed at much lower levels than the other and these individuals tend to have intermediate lactase activities. Wang et al. (1995) proposed that these individuals are heterozygous, which suggests that the nucleotide substitutions responsible for the persistence/nonpersistence polymorphism are cis-acting. Wang et al. (1998) demonstrated progressive downregulation of one lactase allele during childhood. Healthy adult heterozygous individuals have intermediate levels of enzyme activity which are sufficient to hydrolyze dietary lactose and the lactose load of a lactose tolerance test.
Harvey et al. (1995) found that 7 polymorphisms in the lactase gene are highly associated with lactase persistence and lead to only 3 common haplotypes (A, B, and C) in individuals of European extraction. Harvey et al. (1998) reported the frequencies of these polymorphisms in Caucasians from northern and southern Europe and also from the Indian subcontinent, and showed that the alleles differ in frequency, the B and C haplotypes being much more common in southern Europe and India. They found that the persistence (highly expressed) allele is almost always on the A haplotype background. Thus it appeared that lactase persistence arose more recently than the DNA marker polymorphisms used to define the main Caucasian haplotypes, possibly as a single mutation on the A haplotype background. The high frequency of the A haplotype in northern Europeans was consistent with the high frequency of lactase persistence.
Hollox et al. (2001) pursued their earlier studies (Harvey et al., 1995; Harvey et al., 1998) showing that the element responsible for lactase persistence/nonpersistence polymorphism in humans is cis-acting to the lactase gene and that lactase persistence is associated, in Europeans, with the most common 70-kb lactase haplotype, A. They reported a study of the 11-site haplotype in 1,338 chromosomes from 11 populations that differ in lactase persistence frequency. The data showed that haplotype diversity was generated both by point mutations and recombinations. The 4 globally common haplotypes (A, B, C, and U) are not closely related and have different distributions; the A haplotype is at high frequency only in northern Europeans, where lactase persistence is common, and the U haplotype is virtually absent from Indo-European populations. Much more diversity occurs in sub-Saharan Africans than in non-Africans, consistent with an 'out of Africa' model for peopling of the Old World. Analysis of recent recombinant haplotypes, along with deduction of the root haplotype from chimpanzee sequence, allowed construction of a haplotype network that assisted in evaluation of the relative roles of drift and selection in establishing the haplotype frequencies in different populations. Hollox et al. (2001) suggested that genetic drift was important in shaping the general pattern of non-African haplotype diversity, with recent directional selection in northern Europeans for the haplotype associated with lactase persistence.
Enattah et al. (2002) found a complete association between biochemically verified lactase nonpersistence in Finnish families and a C/T(-13910) polymorphism of the MCM6 gene (601806.0001) roughly 14 kb upstream from the lactase gene locus (LCT; 603202), located on 2q21. It was the C allele that associated with hypolactasia. The presence of this variant in 1,047 DNA samples was consistent with the reported prevalence of adult-type hypolactasia in 4 different populations. All individuals with lactase deficiency of the adult type were homozygous with respect to the C allele. The finding of the association in different, distantly related populations suggested that the persistence allele is old, occurring long before the differentiation of these populations. The finding is consistent with the hypothesis that adult lactase persistence has become more prevalent since the introduction of dairy culture in approximately 10,000 to 8,000 B.C. (Holden and Mace, 1997). A selection power of 3 to 5% would be sufficient to explain the present frequency of the lactase persistence allele in northern Europe (McCracken, 1971), assuming it arose around the advent of dairy culture.
Olds and Sibley (2003) characterized the functional role of the C/T(-13910) and G/A(-22018) (601806.0002) polymorphisms in regulating lactase gene transcription. Human intestinal cells were transfected with variant/promoter-reporter constructs and assayed for promoter activity. A 200-bp region surrounding the -13910C variant, associated with lactase nonpersistence, resulted in a 2.2-fold increase in lactase promoter activity. The -13910T variant, associated with lactase persistence, resulted in an even greater increase. The DNA sequence of the C/T(-13910) variants differentially interacted with intestinal cell nuclear proteins. The authors concluded that the DNA region of the C/T(-13910) lactase persistence/nonpersistence variant functions in vitro as a cis element capable of enhancing differential transcriptional activation of the lactase promoter.
Bersaglieri et al. (2004) sought population genetics-based evidence for selection as a responsible factor in the high frequency of persistent lactase activity in European populations. They typed 101 single-nucleotide polymorphisms (SNPs) covering 3.2 Mb around the lactase gene. They found that in northern European-derived populations, 2 alleles that are tightly associated with lactase persistence, -13910C-T and -22018G-A (Enattah et al., 2002), uniquely marked a common (approximately 77%) haplotype that extends largely undisrupted for more than 1 Mb. They provided 2 new lines of genetic evidence that this long, common haplotype arose rapidly due to recent selection: (1) by use of the traditional F(ST) measure and a novel test based on p(excess), they demonstrated large frequency differences among populations for the persistence-associated markers and for flanking markers throughout the haplotype, and (2) they showed that the haplotype is unusually long, considering its high frequency--a hallmark of recent selection. They estimated that strong selection occurred within the past 5,000 to 10,000 years, consistent with an advantage to lactase persistence in the setting of dairy farming. The signals of selection observed in this study were among the strongest seen to that time for any gene in the genome.
Using fast-evolving microsatellite loci to analyze haplotypes of 794 chromosomes from ethnically diverse populations in Europe (Portugal, Italy) and Africa (Cameroon, Mozambique, and Sao Tome), Coelho et al. (2005) found that the -13910T/-22018A haplotype, conferring lactase persistence, had a tightly clustered microsatellite allele distribution, irrespective of geographic location. The T/A haplotype showed lack of recombination within a 61.4-kb region encompassing 3 microsatellite markers, suggesting a unique, relatively recent origin. The authors estimated that the -13910T allele originated in Eurasia before the Neolithic period and after the emergence of modern humans outside Africa 100,000 to 50,000 years ago, and suggested that lactase persistence likely originated from different independent mutations in Europe and Africa that converged on the persistence trait. Coelho et al. (2005) concluded that selection played a role in the evolution of lactase persistence, and that lactase persistence underwent a rapid increase in frequency due to selective advantage.
In a study of a European American panel discordant for height, a heritable trait that varies widely across Europe, Campbell et al. (2005) found strong association of the -13910C-T polymorphism (601806.0001) with height (P less than 10(-6)). The T allele, which is associated with lactose persistence, was strongly associated with tall stature.
By DNA affinity purification using the sequence of the -13910T variant, Lewinsky et al. (2005) identified Oct1 (164175) as the nuclear factor that binds more strongly to the -13910T variant, associated with lactase persistence, than to the -13910C variant, associated with lactase nonpersistence. Lewinsky et al. (2005) suggested that the binding of Oct1 to the -13910T variant directs increased lactase promoter activity and might provide an explanation for the lactase persistence phenotype in the human population.
As indicated, lactase persistence is inherited as a dominant mendelian trait in Europeans. Adult expression of the gene encoding lactase is thought to be regulated by cis-acting elements. The -13910T allele showed 100% association with lactase persistence in the Finnish study of Enattah et al. (2002) and was approximately 86 to 98% associated with lactase persistence in other European populations. Tishkoff et al. (2007) conducted a genotype-phenotype association study in 3 African populations: Tanzanians, Kenyans, and Sudanese. They identified 3 SNPs, G/C(-14010) (601806.0003), T/G(-13915) (601806.0004), and C/G(-13907) (601806.0005), that are associated with lactase persistence and have derived alleles that significantly enhance transcription from the lactase gene promoter in vitro. These SNPs originated on haplotype backgrounds different from the European C/T(-13910) SNP and from each other. Genotyping across a 3-Mb region demonstrated haplotype homozygosity extending more than 2.0 Mb on chromosomes carrying C(-14010), consistent with a selective sweep over the past 7,000 years. Data provided a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits--animal domestication and adult milk consumption.
By analyzing 1,611 DNA samples from 37 populations, Enattah et al. (2007) found that the -13910T lactase persistence variant occurred on 2 highly divergent haplotype backgrounds. The most common haplotype (LP H98) was present in all populations analyzed, was of Caucasian origin, and was estimated to be 5,000 to 12,000 years old. Other haplotypes (LP H8-H12) originated from the same ancestral haplotype found in geographically restricted populations living west of the Ural mountains and north of the Caucasus, with an estimated origin of 1,400 to 3,000 years ago. The data indicated that the T allele had been independently introduced more than once, suggesting a still-ongoing process of convergent evolution of lactase persistence in humans.
Ingram et al. (2007) followed up on the report that the -13910*T polymorphism, which is related to lactase persistence in northern Europeans and promotes binding of the transcription factor OCT1 (164175), has a very low frequency in many African milk-drinking pastoralist groups where lactase persistence has a high frequency. They reported a cohort study of lactose digester and nondigester Sudanese volunteers and showed that there was no association of -13910*T or the associated haplotype with lactase persistence. They discovered 3 SNPs in close proximity to -13910*T, 2 of which are within the OCT1 binding site. The most frequent of these, -13915*G (601806.0004), was associated with lactose tolerance. Despite its location, -13915*G abolishes, rather than enhances, OCT1 binding. The 13915*G allele had not been reported in Europeans. The studies of Ingram et al. (2007) suggested that the allele may have originated in the Middle East, where it is seen at highest frequency in Bedouin groups. It is frequent in east Africa but hardly found in west Africa. It is widespread in Sudan and Ethiopia, being at highest frequency in the Afar. Thus, the mutational basis of lactose intolerance in Africa appears to be different from that in Europeans and the C-13910T is an inappropriate diagnostic test for lactase persistence in people of east African or Arabian ancestry.
The -13910*T variant correlated with lactase persistence (LP) in Eurasian populations (601806.0001) is almost nonexistent among sub-Saharan African populations that show high prevalence of LP. Enattah et al. (2008) described 2 new mutations among Saudis, also known for the high prevalence of LP. Among Saudi population samples, Enattah et al. (2008) confirmed the absence of the European -13910*T allele and established 2 new mutations found as a compound allele: T/G(-13915) within the -13910 enhancer element region (601806.0004) and a synonymous SNP in exon 17 of the MCM6 gene, T/C(-3712) (601806.0006), located -3712 bp from the initiation codon of the LCT gene. The compound allele was driven to a high prevalence among middle Eastern populations. Functional analyses in vitro showed that both SNPs of the compound allele, located 10 kb apart, are required for the enhancer effect, most probably mediated through the binding of the hepatic nuclear factor-1 alpha (HNF1A; 142410). The European -13910*T and the earlier identified East African C/G(-13907) (601806.0005) LP alleles share the same ancestral background and most likely the same history, probably related to the same cattle domestication event. In contrast, the compound Arab allele showed a different, highly divergent ancestral haplotype, suggesting that these 2 major global LP alleles have arisen independently, the latter perhaps in response to camel milk consumption. The results supported a convergent evolution of LP in diverse populations, most probably reflecting different histories of adaptation to milk culture.
INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Diarrhea \- Gas bloat \- Flatulence \- Abdominal pain LABORATORY ABNORMALITIES \- Lactase deficiency MOLECULAR BASIS \- Caused by noncoding mutation in cis-acting lactase regulatory elements located in introns of the minichromosome maintenance deficient (mis5, S. pombe) 6 gene (MCM6, 601806.0001 ) ▲ Close
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| LACTOSE INTOLERANCE, ADULT TYPE | c1857231 | 29,587 | omim | https://www.omim.org/entry/223100 | 2019-09-22T16:28:41 | {"doid": ["10604"], "omim": ["223100"], "synonyms": ["Alternative titles", "HYPOLACTASIA, ADULT TYPE", "ADULT LACTASE DEFICIENCY", "DISACCHARIDE INTOLERANCE III"]} |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.
Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.
Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
## Frequency
Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year.
## Causes
In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition.
Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD.
CCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body). However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. Some of these genetic conditions, such as Down syndrome, Turner syndrome, and 22q11.2 deletion syndrome, result from changes in the number or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single genes.
Environmental factors may also contribute to the development of CCHD. Potential risk factors that have been studied include exposure to certain chemicals or drugs before birth, viral infections (such as rubella and influenza) that occur during pregnancy, and other maternal illnesses including diabetes and phenylketonuria. Although researchers are examining risk factors that may be associated with this complex condition, many of these factors remain unknown.
### Learn more about the genes associated with Critical congenital heart disease
* GJA1
* JAG1
* MED13L
* NOTCH1
Additional Information from NCBI Gene:
* CFC1
* FOXH1
* GATA4
* GATA6
* GDF1
* HAND1
* NKX2-5
* NKX2-6
* SMAD6
* ZFPM2
## Inheritance Pattern
Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population.
*[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
| Critical congenital heart disease | c0003492 | 29,588 | medlineplus | https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease/ | 2021-01-27T08:25:00 | {"gard": ["6739", "7795"], "mesh": ["D001017"], "omim": ["120000", "613854", "217095", "224700", "605376", "241550", "614435", "265150", "178370", "187500", "106700", "608808", "605067"], "synonyms": []} |
Chronic hiccups are repeated, unintentional contractions of the breathing muscles that continue for a long period of time. Regular hiccups often develop after eating a large meal or drinking a carbonated beverage, and they typically go away on their own after a couple minutes. Chronic hiccups last over two days and in rare cases, may continue for over a month. Complications of chronic hiccups can include insomnia, fatigue, weight loss, malnutrition, and depression or anxiety. The exact underlying cause is often unknown; and over 100 different causes of chronic hiccups have been reported. Diagnosis is based on the symptoms and the duration of the hiccups. Treatment of chronic hiccups varies but may include medications, acupuncture, and/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
| Chronic hiccups | c0744898 | 29,589 | gard | https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups | 2021-01-18T18:01:18 | {"orphanet": ["396"], "synonyms": ["Hiccups, intractable", "Persistent hiccups", "Intractable hiccups", "Intractable singultus"]} |
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
## Epidemiology
The syndrome has been described in eight female patients.
## Genetic counseling
The mode of transmission has not been firmly established but appears to be either autosomal or X-linked 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
| Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | c2931197 | 29,590 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2180 | 2021-01-23T18:32:06 | {"gard": ["5518"], "mesh": ["C536461"], "omim": ["600991"], "umls": ["C2931197"], "icd-10": ["Q87.8"], "synonyms": ["Ferlini-Ragno-Calzolari syndrome", "Waaler-Aarskog syndrome"]} |
For other uses, see Ptosis (disambiguation).
Breast ptosis
Other namesCooper's droop[1]
SpecialtyPlastic surgery
TreatmentMastopexy
Ptosis or sagging of the female breast is a natural consequence of aging. The rate at which a woman's breasts drop and the degree of ptosis depends on many factors. The key factors influencing breast ptosis over a woman's lifetime are cigarette smoking, her number of pregnancies, gravity, higher body mass index, larger bra cup size, and significant weight change.[2][3] Post-menopausal women or people with collagen deficiencies (such as Ehlers-Danlos) may experience increased ptosis due to a loss of skin elasticity. Many women and medical professionals mistakenly believe that breastfeeding increases sagging. It is also commonly believed that the breast itself offers insufficient support and that wearing a bra prevents sagging, which has not been found to be true.[4]
Plastic surgeons categorize the degree of ptosis by evaluating the position of the nipple relative to the infra-mammary fold, the point at which the underside of the breasts attach to the chest wall. In the most advanced stage, the nipples are below the fold and point toward the ground.
## Contents
* 1 Signs and symptoms
* 1.1 Impact of pregnancy
* 1.2 Middle-aged women
* 1.3 Post-menopausal women
* 1.4 Ptosis scale
* 2 Causes
* 2.1 Effect of vigorous exercise
* 3 Mechanism
* 4 Treatment
* 4.1 Bras
* 4.2 Surgery
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
A woman's breasts change in size, volume, and position on her chest throughout her life. In young women with large breasts, sagging may occur early in life due to the effects of gravity. It may be primarily caused by the volume and weight of the breasts which are disproportionate to her body size.[2]
### Impact of pregnancy[edit]
During pregnancy, the ovaries and the placenta produce estrogen and progesterone. These hormones stimulate the 15 to 20 lobes of the milk-secreting glands in the breasts to develop. Women who experience multiple pregnancies repeatedly stretch the skin envelope during engorgement while lactating. As a woman's breasts change in size during repeated pregnancies, the size of her breasts change as her mammary glands are engorged with milk and as she gains and loses weight with each pregnancy.[5] In addition, when milk production stops (usually as a child is weaned), the voluminous mammary glands diminish in volume, but they still add bulk and firmness to the breast. A 2010 review found that weight gain during pregnancy and breastfeeding were not significant risk factors for ptosis.[3]
### Middle-aged women[edit]
Severe ptosis
In middle-aged women, breast ptosis is caused by a combination of factors. If a woman has been pregnant, postpartum hormonal changes will cause her depleted milk glands to atrophy. Breast tissue and suspensory ligaments may also be stretched if the woman is overweight or loses and gains weight. When these factors are at play, the breast prolapses, or falls forward. When a woman with sagging breasts stands, the underside or inferior skin of the breast folds over the infra-mammary fold and lies against the chest wall. The nipple-areola complex tends to move lower on the breast relative to the inframammary crease. The nipple of the breast may also tend to point downward.
### Post-menopausal women[edit]
In post-menopausal women, breast atrophy is aggravated by the inelasticity of over-stretched, aged skin.[6] This is due in part to the reduction in estrogen, which affects all body tissues, including breast tissue. The loss of estrogen reduces breast size and fullness. Estrogen is also essential to maintaining a fibrous protein called collagen, which makes up much of the breast's connective tissue.[citation needed]
### Ptosis scale[edit]
Stages of ptosis
Plastic surgeons describe the degree of breast sagging using a ptosis scale like the modified Regnault ptosis scale below:[7][8]
* Grade I: Mild ptosis—The nipple is at the level of the infra-mammary fold and above most of the lower breast tissue.
* Grade II: Moderate ptosis—The nipple is located below the infra-mammary fold but higher than most of the breast tissue hangs.
* Grade III: Advanced ptosis—The nipple is below the inframammary fold and at the level of maximum breast projection.
* Pseudoptosis—The nipple is located either at or above the infra-mammary fold, while the lower half of the breast sags below the fold. This is most often seen when a woman stops nursing, as her milk glands atrophy, causing her breast tissue to sag.
* Parenchymal Maldistribution—The lower breast tissue is lacking fullness, the inframammary fold is very high, and the nipple and areola are relatively close to the fold. This is usually a developmental deformity.[8]
## Causes[edit]
See also: Women and smoking § Unique gender differences and health effects for females
University of Kentucky plastic surgeon Brian Rinker encountered many women in his practice who attributed their sagging breasts to breastfeeding, which was also the usual belief among medical practitioners.[9] He decided to find out if this was true, and between 1998 and 2006 he and other researchers interviewed 132 women who were seeking breast augmentation or breast lifts. They studied the women's medical history, body mass index (BMI), their number of pregnancies, their breast cup size before pregnancy, and smoking status. The study results were presented at a conference of the American Society of Plastic Surgeons.[2]
According to Rinker's research, there are several key factors. A history of cigarette smoking "breaks down a protein in the skin called elastin, which gives youthful skin its elastic appearance and supports the breast." The number of pregnancies was strongly correlated with ptosis, with the effects increasing with each pregnancy.[2] As most women age, breasts naturally yield to gravity and tend to sag and fold over the inframammary crease, the lower attachment point to the chest wall. This is more true for larger-breasted women. The fourth reason was significant weight gain or loss (greater than 50 pounds (23 kg)).[2] Other significant factors were higher body mass index and larger bra cup size.[10]
In Rinker's study, 55% of respondents reported an adverse change in breast shape after pregnancy. Many women mistakenly attribute the changes and their sagging breasts to breastfeeding,[11] and as a result some are reluctant to nurse their infants. Research shows that breastfeeding is not the factor that many thought it was.[2] Rinker concluded that "Expectant mothers should be reassured that breastfeeding does not appear to have an adverse effect upon breast appearance."[2] Also discounted as causes affecting ptosis are weight gain during pregnancy and lack of participation in regular upper body exercise.[10]
### Effect of vigorous exercise[edit]
When running, breasts may move three-dimensionally: vertically, horizontally and laterally, in an overall figure-8 motion. Unrestrained movement of large breasts may contribute to sagging over time.[5] Motion studies have revealed that when a woman runs, more than 50% of the breast's total movement is vertical, 22% is side-to-side, and 27% is in-and-out.[12] A 2007 study found that encapsulation-type sports bras, in which each cup is separately molded, are more effective than compression-type bras, which press the breasts close to the body, at reducing total breast motion during exercise. Encapsulation bras reduce motion in two of the three planes, while compression bras reduce motion in only one plane.[13] Previously, it was commonly believed that a woman with small to medium-size breasts benefited most from a compression-type sports bra, and women with larger breasts need an encapsulation-type sports bra.[12]
## Mechanism[edit]
Main article: Breast
Anatomically, a female's breasts do not contain any muscle but are composed of soft, glandular tissue. Breasts are composed of mammary glands, milk ducts, adipose tissue (fat tissue) and Cooper's ligaments.
Mammary glands remain relatively constant throughout life. Fat tissue surrounds the mammary glands, and its volume will normally vary throughout life. Although the exact mechanisms that determine breast shape and size are largely unknown,[14] the amount and distribution of fat tissue and, to a lesser extent, mammary tissue, cause variations in breast size, shape and volume. Some experts believe Cooper's ligaments, which are connective tissue with the breast, provide some support within breasts,[15] but there's no agreement on whether they provide support or simply divide breast tissue into compartments.[16]
## Treatment[edit]
### Bras[edit]
Main article: Brassiere
Since breasts are an external organ and do not contain muscle, exercise cannot improve their shape. They are not protected from external forces and are subject to gravity. Many women mistakenly believe that breasts cannot anatomically support themselves and that wearing a brassiere will prevent their breasts from sagging later in life.[17] Researchers, bra manufacturers, and health professionals cannot find any evidence to support the idea that wearing a bra for any amount of time slows breast ptosis.[18] Bra manufacturers are careful to claim that bras only affect the shape of breasts while they are being worn.[17][19]
In fact, there is some evidence that bra use reduces the development of Cooper's ligaments, connective tissue that supports breast shape. That atrophy from bra wearing may therefore lead to more breast sag in the long run, much as the connective tissue in a limb weakens while it's in a cast and must be re-strengthened afterward.[20] Studies have actually documented that, after an initial period of adjustment, women experienced a significant increase in comfort and breast firmness from going without bras.[21][22]
### Surgery[edit]
Main article: Mastopexy
Some women with ptosis choose to undergo plastic surgery to make their breasts less ptotic. Plastic surgeons offer several procedures for lifting sagging breasts. Surgery to correct the size, contour, and elevation of sagging breasts is called mastopexy.[23][24] Women can also choose breast implants, or may undergo both procedures. The breast-lift procedure surgically elevates the parenchymal tissue (breast mass), cuts and re-sizes the skin envelope, and transposes the nipple-areola complex higher upon the breast hemisphere. If sagging is present and the woman opts not to undergo mastopexy, implants are typically placed above the muscle, to fill out the breast skin and tissue. Submuscular placement can result in deformity. In these cases, the implant appears to be high on the chest, while the natural breast tissue hangs down over the implant.
## See also[edit]
* Pencil test (breasts)
## References[edit]
1. ^ "The Nation: Cooper's Droop". Time Magazine. 14 February 1972. Retrieved 22 December 2019.
2. ^ a b c d e f g Rinker, B; Veneracion, M; Walsh, C (2008). "The Effect of Breastfeeding on Breast Aesthetics". Aesthetic Surgery Journal. 28 (5): 534–537. doi:10.1016/j.asj.2008.07.004. PMID 19083576. Lay summary – LiveScience (November 2, 2007).
3. ^ a b Rinker, Brian; Veneracion, Melissa; Walsh, Catherine P. (May 2010). "Breast ptosis: causes and cure". Annals of Plastic Surgery. 64 (5): 579–584. doi:10.1097/SAP.0b013e3181c39377. ISSN 1536-3708. PMID 20354434. S2CID 8953778.
4. ^ Stuart, Julia (November 2, 2000). "Don't burn your bra just yet". The Independent. Retrieved 4 February 2012.
5. ^ a b Toffelmire, Amy. "Why do breasts sag?". MedBroadcast.com. Retrieved 3 February 2012.
6. ^ De la Torre, J. I. (2009). "Breast Mastopexy". Retrieved February 2, 2012. Cite journal requires `|journal=` (help)
7. ^ Younai, S. Sean. "Breast Sagging - Ptosis". Archived from the original on 28 December 2011. Retrieved 4 February 2012.
8. ^ a b "Anatomy of Breast Ptosis – How Breasts Sag". Retrieved 4 February 2012.
9. ^ Lauersen, Niels H.; Stukane, Eileen (1998). The Complete Book of Breast Care. New York: Fawcett Columbine/Ballantine. ISBN 978-0-449-91241-6. "...there is no medical reason to wear a bra, so the decision is yours, based on your own personal comfort and aesthetics. Whether you have always worn a bra or always gone braless, age and breastfeeding will naturally cause your breasts to sag."
10. ^ a b Rinker, Brian; Veneracion, Melissa; Walsh, Catherine P. (March 2010). "Breast Ptosis". Annals of Plastic Surgery. 64 (5): 1. doi:10.1097/SAP.0b013e3181c39377. PMID 20354434. S2CID 8953778.
11. ^ "Sagging Breasts". Channel 4. 2009. Archived from the original on 2 May 2008. Retrieved 3 February 2012.
12. ^ a b "Healthy Breast: Why You Should Wear Sports Bras on Every Workout?". Archived from the original on 23 August 2012. Retrieved 4 February 2012.
13. ^ Scurr, Joanna C.; White, Jennifer L.; Hedger, Wendy (2010). "The effect of breast support on the kinematics of the breast during the running gait cycle". Journal of Sports Sciences. 28 (10): 1103–1109. doi:10.1080/02640414.2010.497542. PMID 20686995. S2CID 24387606. Lay summary – ScienceDaily (September 23, 2007).
14. ^ Page, KA; Steele, JR (April 1999). "Breast motion and sports brassiere design: Implications for future research". Sports Medicine. 27 (4): 205–211. doi:10.2165/00007256-199927040-00001. PMID 10367331. S2CID 32512448. Archived from the original on 2012-07-11.
15. ^ "The Cooper's Ligaments". Boobuddy.
16. ^ "For the Last Time, "Tribal African Women" Are Not Proof That Bras Prevent Breast Sagging I The Lingerie Addict". The Lingerie Addict - Expert Lingerie Advice, News, Trends & Reviews. 19 November 2013. Retrieved 12 March 2019.
17. ^ a b "Female Intelligence Agency: Why do women wear bras?". 007b Breast. Retrieved 10 May 2011.
18. ^ "Female Intelligence Agency: What causes sagging of breasts?". 007b Breast.
19. ^ Cawthorn, Simon (November 2000). "Bras, the Bare Facts". Channel 4.
20. ^ Bras Actually CAUSE Breast Sagging
"These women's breasts were not being suspended by the Cooper's Ligaments when they wore a bra, so removing their bra placed some stress upon those ligaments, which ligaments require in order to develop. They will not develop without a need... without some stress or pressure placed upon them. The ligaments in a casted leg are 'on vacation'... no stress... no weight... because the doctor said "I don't want you to put any pressure on that leg for six weeks!" But when the cast came off, the ligaments had to go back to work, just like the breast ligaments had to go back to work when the bra came off, after lolling around in that bra for decades."
21. ^ Breast Support: When Do Bras Help or Harm?
22. ^ Bras Make Breasts Sag, 15-Year Study Concludes
23. ^ Mastopexy at eMedicine
24. ^ Smith, Dr. R. Scott. "Fuller Breasts: A Woman's Guide to Breast Augmentation". Breastbook.com. Archived from the original on 2015-02-24. Retrieved 2011-07-07.
## External links[edit]
Classification
D
* ICD-10: N64.81
* ICD-9-CM: 611.81
External resources
* eMedicine: plastic/128
* "Soutien-gorge de sport", in Thierry Adam, Gynécologie du sport. Springer 2012, pp 305–309
* "Facteurs de l'évolution morphologique du sein après arrêt du port du soutien-gorge : étude ouverte préliminaire longitudinale chez 50 volontaires. Olivier Roussel; Jean-Denis Rouillon; Université de Franche-Comté. Faculté de médecine et de pharmacie". Thèse d’exercice : Médecine : Besançon : 2009.
* 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
| Ptosis (breasts) | None | 29,591 | wikipedia | https://en.wikipedia.org/wiki/Ptosis_(breasts) | 2021-01-18T18:41:26 | {"icd-9": ["611.81"], "wikidata": ["Q605541"]} |
Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
*[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
| Microphthalmia, Lenz type | c0796016 | 29,592 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=568 | 2021-01-23T18:03:04 | {"gard": ["87"], "mesh": ["C537464"], "omim": ["300166", "309800"], "umls": ["C0796016"], "icd-10": ["Q11.2"], "synonyms": ["Lenz microphthalmia"]} |
Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).
*[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
| Pulmonary arterial hypertension associated with schistosomiasis | c3697477 | 29,593 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275823 | 2021-01-23T18:10:29 | {"icd-10": ["I27.2"], "synonyms": ["PAH associated with schistosomiasis"]} |
## Summary
### Clinical characteristics.
Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain; symptoms may worsen in hot environments or after heavy meals or alcohol ingestion. Life expectancy is unknown, but some affected individuals have lived beyond age 60 years.
### Diagnosis/testing.
The diagnosis of DBH is established in a proband with profound neurogenic orthostatic hypotension, minimal or absent plasma concentrations of norepinephrine and epinephrine, and a five- to tenfold elevation of plasma dopamine; it is confirmed with identification of biallelic pathogenic variants in DBH by molecular genetic testing.
### Management.
Treatment of manifestations: Administration of L-threo-3,4-dihydroxyphenylserine (droxidopa) restores norepinephrine and alleviates the orthostatic hypotension and other symptoms. Affected individuals do not respond as well to standard therapeutic approaches for autonomic failure. Surgery can correct ptosis.
Surveillance: Renal function (measurement of plasma creatinine and BUN concentrations) is assessed every two years or more often if loss of renal function is evident; plasma magnesium and potassium should also be assessed. Yearly evaluation of efficacy of droxidopa against orthostatic hypotension as dosage adjustment may be required. Consultation with autonomic specialist prior to surgery or becoming pregnant.
Agents/circumstances to avoid: Untreated individuals should avoid hot environments, strenuous exercise, standing motionless, and dehydration.
Pregnancy management: Routine blood pressure monitoring during pregnancy and delivery, with adjustment of droxidopa dosage as needed; extra doses of droxidopa may be required during delivery and dose adjustment may be required post partum.
### Genetic counseling.
DBH deficiency 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 both pathogenic variants in the family are known. Once the DBH pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DBH deficiency are possible.
## Diagnosis
Individuals with dopamine beta-hydroxylase (DBH) deficiency are often first encountered during adolescence, complaining of lifelong difficulties with lightheadedness and fatigue and an inability to tolerate standing or exercise. Affected individuals and their parents will report behaviors (e.g., squatting) used to compensate for the problems with standing.
### Suggestive Findings
No formal testing strategy has been presented for DBH deficiency; a clinical assessment including orthostatic vital signs and an ophthalmic exam should be the initial step and, if indicated, this should be followed by autonomic function testing and plasma catecholamine analysis.
DBH deficiency should be suspected in individuals with the following clinical, physiologic, and laboratory findings [Vincent & Robertson 2002, Timmers et al 2004]:
#### Clinical Findings
* Poor cardiovascular regulation evident from supine, seated, and standing vital signs:
* A low-to-normal supine blood pressure and low or normal supine heart rate
* Severely symptomatic orthostatic hypotension with systolic blood pressure falling below 80 mm Hg in the upright position
* A compensatory rise in heart rate with standing
* Inability to stand motionless for more than a few minutes
* Cardiovascular findings consistent with sympathetic failure but preserved parasympathetic function
* Other autonomic dysfunction evident from an ophthalmic examination:
* Ptosis in some individuals
* A marked decrease in intraocular pressure with standing [Phillips et al 2013]
* Somewhat small pupils that respond to light and accommodation but not to hydroxyamphetamine. Parasympatholytics dilate the pupils appropriately.
* A comprehensive history and physical examination (including neurologic exam) that typically reveal the following:
* Intact sweating consistent with intact sympathetic cholinergic function
* Skeletal and muscle findings in some affected individuals:
* Arched palate
* Hyperextensible joints
* Sluggish deep-tendon reflexes
* Mild facial-muscle weakness
* Hypotonic skeletal muscles
#### Findings on Physiologic Testing
Physiologic tests of autonomic function, when available, may provide diagnostic information of great specificity. Autonomic function test results (Table 1) indicate that complete DBH deficiency encompasses sympathetic noradrenergic failure and adrenomedullary failure but intact vagal and sympathetic cholinergic function [Biaggioni & Robertson 1987, van den Meiracker et al 1996, Bartoletti-Stella et al 2015].
* The Valsalva maneuver results in a profound fall in blood pressure together with an increase in heart rate reflecting parasympathetic withdrawal. The phase IV overshoot of the Valsalva maneuver does not occur.
* Hyperventilation causes a fall in blood pressure.
* Cold pressor testing causes either a fall or no change in blood pressure.
* Isometric handgrip exercise fails to significantly increase blood pressure.
Note: Click here for results of further physiologic tests of autonomic function.
### Table 1.
Results of Autonomic Function Testing in Individuals with Dopamine Beta-Hydroxylase Deficiency (DBHD)
View in own window
DBHD 1Control 1Number:
DBHD/ControlP Value
Age (years)26±1434±100.033
Sinus arrhythmia ratio1.3±0.211.4±0.218/860.266
Valsalva
phase IIDelta SBP (mm Hg)-41±25-7±227/55<0.001
Delta HR (bpm)29±1130±167/530.828
Valsalva
phase IVDelta SBP (mm Hg)-22±1823±168/84<0.001
Delta HR (bpm)5±9-8±118/820.001
Valsalva ratio1.3±0.201.7±0.398/79<0.001
Hyper-
ventilationDelta SBP (mm Hg)-14±12-7±129/86454
Delta HR (bpm)14±1911±118/860.308
Cold
pressorDelta SBP (mm Hg)4±1021±148/830.001
Delta HR (bpm)16±1110±117/830.183
HandgripDelta SBP (mm Hg)2±617±137/830.003
Delta HR (bpm)15±1110±107/830.230
EM Garland, unpublished data from Vanderbilt Autonomic Dysfunction Center
HR = heart rate; SBP = systolic blood pressure
1\.
Mean ± SD
Specialized testing, such as a cardiac 123 I-metaiodobenzylguanidine scan, microneurography, and skin biopsies stained by the PGP pan neuronal marker and the DβH-specific adrenergic marker, can be used to confirm the selective loss of peripheral sympathetic noradrenergic function [Donadio et al 2016].
#### Laboratory Findings
Plasma catecholamines. Biochemical features unique to DBH deficiency:
* Minimal or absent plasma norepinephrine (NE) and epinephrine AND a five- to tenfold elevation of plasma dopamine (DA). This combination is probably pathognomonic of DBH deficiency.
* Plasma NE concentration should be below the limits of detection (<25 pg/mL or 0.15 nmol/L).
* Plasma DA concentration is frequently higher than 100 pg/mL (0.65 nmol/L). One atypical individual who was not diagnosed until age 73 years was reported to have a plasma DA concentration of 10,000 pg/mL (67 nmol/L) [Despas et al 2010].
* Although both baroreflex afferent and catecholamine release mechanisms are intact, DA is released in place of NE.
Note: (1) It is essential to assay both NE and DA and to use a procedure with high specificity for these catechols. (2) With some radioenzymatic methods for catecholamine determinations, a proportion of the DA may be erroneously measured as epinephrine [Robertson et al 1986]. (3) Very low (rather than undetectable) levels of NE can be reported in some assays and are also likely due to interference substances.
The plasma DA concentrations respond to various physiologic and pharmacologic stimuli in a way that mimics that of NE in normal individuals:
* A change from supine to upright posture doubles or triples the plasma DA concentration. This observation suggests that sympathetic nerves and reflex arcs are intact, but DA (rather than NE) is stored and released at the sympathetic synapse.
* Central sympatholytics lower plasma dopamine [Biaggioni & Robertson 1987].
Click here for information pertaining to pharmacologic findings that can be seen in individuals with DBH.
### Establishing the Diagnosis
The diagnosis of DBH is established in a proband with profound neurogenic orthostatic hypotension, minimal or absent plasma concentrations of norepinephrine and epinephrine, and a five- to tenfold elevation of plasma dopamine; the diagnosis is confirmed with identification of biallelic pathogenic variants in DBH by molecular genetic testing (see Table 2).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of dopamine beta-hydroxylase deficiency is 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 dopamine beta-hydroxylase 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 DBH deficiency, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of DBH 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, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.
* A multigene panel that includes DBH and other genes of interest (see Differential Diagnosis) 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. 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 DBH 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.
Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
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 Dopamine Beta-Hydroxylase Deficiency
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
DBHSequence analysis 317/17 4
Gene-targeted deletion/duplication analysis 5Unknown 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\.
All variants reported to date
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\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
Click here for information on the plasma DBH enzymatic assay.
## Clinical Characteristics
### Clinical Description
Dopamine beta-hydroxylase (DBH) deficiency is characterized by a lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function, but apparently only subtle signs of central nervous system dysfunction [Robertson et al 1986, Man in 't Veld et al 1987, Timmers et al 2004, Jepma et al 2011].
Onset. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood, when orthostatic hypotension becomes more severe.
Features by age. The full clinical spectrum of DBH deficiency is not known because of the limited number of cases reported. Clinical features reported in 21 affected individuals (13 female, 8 male) are included in Table 3.
* Infancy:
* In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization.
* Delay in opening of the eyes has occurred and ptosis of the eyelids is seen in most affected infants.
* Childhood:
* Children with DBH deficiency have markedly reduced exercise capacity, perhaps because of hypotension engendered by physical exertion.
* The syncope associated with postural hypotension often suggests seizures and prompts trials of anticonvulsive medication despite lack of abnormalities on the electroencephalogram.
* Mental and physical development are normal.
* Adolescence and early adulthood:
* Symptoms generally worsen in late adolescence.
* By early adulthood, affected individuals demonstrate profound orthostatic hypotension, fatigue, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Insulin resistance has been reported in an affected female age 15 years [Arnold et al 2017].
* Males experience retrograde or prolonged ejaculation.
Clinical features of DBH deficiency are included in Table 3.
### Table 3.
Clinical Features of DBH Deficiency
View in own window
Feature# of Individuals 1
Severe orthostatic hypotension21/21 (100%)
Anemia9/15 (60%)
Ptosis of eyelids12/14 (86%)
Hyperflexible or hypermobile joints6/10 (60%)
ECG abnormalities 22/12 (17%)
Epileptiform symptoms4/12 (33%)
Nasal stuffiness10/10 (100%)
Hypoglycemia4/12 (33%)
Sluggish deep-tendon reflexes3/9 (33%)
Increased plasma creatinine6/11 (54%)
Polyuria/nocturia3/9 (33%)
High palate9/10 (90%)
Increased BUN6/9 (67%)
Muscle hypotonia3/9 (33%)
Postprandial hypotension3/7 (43%)
Sleep irregularities5/7 (71%)
Impaired ejaculation4/4 (100%)
1\.
Number of individuals with the finding/total number evaluated for the finding
2\.
ECG = electrocardiogram
Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and occasionally chest pain. Symptoms may worsen in hot environments or after heavy meals or alcohol ingestion. Occasional bouts of unexplained diarrhea occur.
Renal function. Elevated blood urea nitrogen has been noted in six affected individuals in the USA [Garland et al 2005a, Garland et al 2009]. This may be evidence of a loss of renal function. A nephrologist who evaluated an individual age 16 years with a disproportionately high BUN (32 mg/dL) and slightly elevated creatinine (1.09 mg/dL) proposed that renal perfusion was reduced and that a BUN/Cr ratio <25 should be targeted. Although droxidopa acutely improved the ratio, the BUN/Cr ratio was further increased after a year of droxidopa treatment. The estimated GFR of an affected female age 57 years was reduced to 18 mL/min/1.73 m2 [Emily Garland, personal observation]. Another patient with unexpectedly low eGFR and elevated creatinine was found, by electron microscopy, to have abnormal, fused mitochondria in the proximal, but not the distal, tubules. Associated problems with the glomerular-tubular balance can be at least partially reversed by treatment with droxidopa [Wassenberg et al 2017].
Cognitive function. Despite the lack of norepinephrine, persons with DBH deficiency apparently have relatively normal mental status. Five affected individuals and ten matched healthy unaffected participants underwent a comprehensive battery of neurocognitive testing in addition to brain MRI, pupillometry, and EEG. Performance of the affected individuals, whether on or off droxidopa treatment, was similar to that of the unaffected individuals in most respects, suggesting that other systems compensate for absent norepinephrine in affected individuals. Brain MRI studies revealed a smaller total brain volume in the affected individuals compared to unaffected individuals, although relative proportions of white and gray matter and cerebrospinal fluid were similar in the two groups. In addition, affected individuals had a temporal-attention deficit when they were not on treatment. During an attentional-blink task, participants were asked to identify two digits, separated by a variable number of letters. Attentional blink refers to the deficit in processing the second digit when it is presented within 200-400 msec of the first. Accuracy in identifying the second digit was impaired in affected individuals not on treatment but performance improved with droxidopa treatment [Jepma et al 2011].
Ptosis. Ptosis of the eyelids, defined as a reduction in the margin reflex distance, is common in individuals with DBH deficiency and can be noted at an early age. It was reported in the first descriptions of individuals with this disorder in the late 1980s and in more than 85% of all cases in the published literature. Levator function is intact. Some individuals undergo levator advancement surgery [Phillips et al 2013], which may mask this aspect of the phenotype.
Olfactory function is relatively unaffected in individuals with DBH deficiency, who have intact noradrenergic neurons, in contrast to the marked deficit in individuals with pure autonomic failure, who have peripheral neuronal degeneration [Garland et al 2011].
Hypoglycemia. Because so few individuals have been diagnosed with DBH deficiency, there has not been a clear explanation for the occurrence of hypoglycemic episodes in some of the individuals. It is not known if this is related to the absence of norepinephrine and epinephrine, or the elevated levels of dopamine. Investigators have speculated that it may result from loss of the counterregulatory actions of epinephrine that protect against hypoglycemia [Man in 't Veld et al 1987]. In contrast to the report of hypoglycemia during the perinatal period, a girl age 15 years studied with a hyperglycemic clamp had a normal fasting glucose level but insulin resistance [Shibao et al 2014]. Her hyperinsulinemia persisted after a year of droxidopa treatment, despite improved orthostatic tolerance and restoration of plasma norepinephrine [Arnold et al 2017].
High palate. Physicians who inspect the palate often report that patients with DBH deficiency have a high, arched palate [Man in 't Veld et al 1988, Cheshire et al 2006; Emily Garland, unpublished findings]. This, however, is generally a subjective determination; it is not known how frequently it is either not assessed or reported incorrectly.
Life span. Four persons with DBH deficiency are known to have died. A woman age 57 years had chronic kidney disease and was undergoing treatment for breast cancer. Her listed cause of death at an assisted living facility was cardiac arrhythmia. Autopsy of a male age 28 years reported "scattered pyknotic cerebral neurons, isolated microfoci of cortical gliosis, cardiac arteriolar smooth muscle hypertrophy, scattered fibrosis in the cardiac conduction system, and sclerotic renal glomeruli." Cardiac dysrhythmia, possibly related to fibrosis in the cardiac conduction system, may have contributed to the patient's sudden demise [Cheshire et al 2006]. One individual died at age 20 years, possibly by suicide. A person age 63 died of unknown causes. Other affected individuals are likely to be deceased, but there are no published reports of causes of death or of effects of the disorder on life span.
One individual was not diagnosed with DBH deficiency until age 73 years despite having long-lasting orthostatic hypotension [Despas et al 2010], suggesting that DBH deficiency may not necessarily shorten the life span.
### Genotype-Phenotype Correlations
There are no known genotype-phenotype correlations.
### Prevalence
The prevalence of DBH deficiency is unknown. Only 23 affected individuals, all of western European descent, have been reported in the literature, suggesting that it is a rare disorder.
## Differential Diagnosis
The striking catecholamine abnormalities distinguish DBH deficiency from other disorders. Other catecholamine disorders described in the past, such as aromatic L-amino acid decarboxylase deficiency (OMIM 608643), have clinical presentations distinct from that of DBH deficiency [Swoboda et al 2003].
Pure autonomic failure / autonomic neuropathy. Pure autonomic failure or Bradbury-Eggleston syndrome is a degenerative disorder of the autonomic nervous system presenting in middle to late life. Like DBH deficiency, it is characterized by severe orthostatic hypotension. It differs from DBH deficiency in that it affects both the sympathetic and parasympathetic nervous systems. Hypohidrosis is common. Individuals with pure autonomic failure have marked hypersensitivity to all pressor and depressor stimuli. Plasma and urinary norepinephrine concentrations are greatly reduced, sometimes to 10% of normal; plasma dopamine concentrations are normal or low, rather than elevated as in DBH deficiency.
Systemic illness. Some dysautonomias result from well-characterized autonomic neuropathies secondary to systemic illnesses such as diabetes mellitus.
Other disorders with orthostatic hypotension to consider in the differential diagnosis of DBH deficiency are summarized in Table 4.
### Table 4.
Disorders with Orthostatic Hypotension to Consider in the Differential Diagnosis of Dopamine Beta-Hydroxylase (DBH) Deficiency
View in own window
DisorderGene(s)MOIClinical Description / CommentsDistinguishing Clinical Features
Familial dysautonomia (FD)ELP1 1AR
* Affects development & survival of sensory, sympathetic, & parasympathetic neurons
* Debilitating disease present from birth; progressive neuronal degeneration continues throughout life
* Gastrointestinal dysfunction; vomiting crises
* Recurrent pneumonia
* Altered sensitivity to pain & temperature
* Cardiovascular instability
* ~40% of individuals have autonomic crises
* Age-related decline in renal function noted 2
In DBH deficiency:
* Normal tearing; intact corneal & deep tendon reflexes; normal sensory function; normal senses of taste & smell
* Lack of abnormal cholinergic sensitivity & intradermal histamine response
In FD:
* Occurs almost exclusively in individuals of Ashkenazi heritage
* High rates of excretion of HVA & low rates of excretion of VMA; plasma DHPG concentration is low; plasma DOPA & DA concentrations are ↑ 3
ATP7A-related copper transport disorders
(Menkes disease & Occipital horn syndrome)ATP7A 4XLDBH is a copper-dependent enzyme & thus DBH activity is depressed in individuals w/ATP7A-related copper transport disorders, leading to:
* High plasma & CSF concentrations of DOPA, DOPAC, & DA
* Low concentrations of DHPG
* Approximately normal concentrations of NE
* In infants w/classic Menkes disease: loss of developmental milestones, hypotonia, seizures, failure to thrive at age 2-3 mos, & characteristic hair changes (short, sparse, coarse, twisted, often lightly pigmented); death usually by age 3 yrs
* In OHS: "Occipital horns," distinctive wedge-shaped calcifications at sites of attachment of trapezius muscle & sternocleidomastoid muscle to occipital bone; lax skin & joints; bladder diverticula; inguinal hernias; vascular tortuosity; intellect normal or slightly ↓; serum copper & serum ceruloplasmin concentrations are low.
Familial transthyretin amyloidosisTTRAD
* Slowly progressive peripheral sensorimotor neuropathy & autonomic neuropathy as well as non-neuropathic changes of nephropathy, cardiomyopathy, vitreous opacities, & CNS amyloidosis
* Cardinal feature: slowly progressive sensorimotor & autonomic neuropathy
* Autonomic neuropathy may be 1st clinical symptom.
In familial transthyretin amyloidosis:
* Constipation alternating w/diarrhea; attacks of nausea & vomiting; delayed gastric emptying; sexual impotence; anhidrosis; urinary retention or incontinence
* Onset typically in 3rd-5th decade, but may be later
Multiple system atrophy
(Shy-Drager syndrome)
(OMIM 146500)COQ2 5AR
AD
* Adult-onset neurodegenerative disorder causing combination of ataxia, parkinsonism, & autonomic dysfunction
* Poor response to levodopa
* Severe orthostatic hypotension w/out compensatory tachycardia
In multiple system atrophy:
* Extrapyramidal or cerebellar findings
* Erectile dysfunction, constipation/diarrhea, urinary symptoms, decreased sweating are prevalent.
* Onset age >30 yrs; rapidly progressive to death w/in ~3 yrs of diagnosis
Cytochrome b561 deficiency (OMIM 618182)CYB561 6AR
* Sympathetic dysfunction evident by severe symptomatic orthostatic hypotension from infancy or early childhood w/out compensatory tachycardia
* Undetectable or very low plasma & urinary norepinephrine & epinephrine, w/normal dopamine
* Impaired renal function, mild anemia, episodic hypoglycemia
* Shortened life span
* Can be treated w/droxidopa
In CYB561 deficiency:
* No ptosis
* No orthostatic tachycardia in response to drop in blood pressure
* No skeletal muscle hypotonia
AD = autosomal dominant; AR = autosomal recessive; DA = dopamine; DHPG = dihydroxyphenylglycol; DOPA = 3,4-dihydroxyphenylalanine; DOPAC = 3,4-dihydroxyphenylacetic acid; HVA = homovanillic acid; MOI = mode of inheritance; NE = norepinephrine; OHS = occipital horn syndrome; VMA = 3-methoxy-4-hydroxymandelic acid; XL = X-linked
1\.
Two pathogenic variants account for more than 99% of pathogenic alleles in individuals of Ashkenazi Jewish descent.
2\.
Elkayam et al [2006]
3\.
Goldstein et al [2008]
4\.
Molecular genetic testing of ATP7A detects pathogenic variants in more than 95% of affected individuals.
5\.
No genetic cause has been identified for the vast majority of patients.
6\.
van den Berg et al [2018]
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with dopamine beta-hydroxylase (DBH) deficiency, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Review of medical history to understand medical issues in context of the diagnosis of DBH deficiency. It can be helpful to recognize that some findings from a previous medical history or exam may be associated with the diagnosis of DBH deficiency and thus amenable to treatment with droxidopa.
* Assessment of standing time (length of time that the affected individual is able to stand)
* Assessment of renal function with, at a minimum, plasma and urinary electrolytes, creatinine, and BUN
* Ophthalmic examination with measurement of margin reflex distance to establish presence or absence of ptosis, followed by consideration of possible benefit of surgery
* Measurement of palate for an objective diagnosis of high-arched palate, which can cause feeding difficulties in infancy and breathing or sleeping difficulties. In the absence of these symptoms, no further evaluation or treatments are required.
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
For the most part, treatment for DBH deficiency is supportive and directed at relieving orthostatic symptoms.
The treatment of choice is administration of L-threo-3,4-dihydroxyphenylserine (or droxidopa, marketed in the USA as Northera™). Droxidopa is converted directly to norepinephrine (NE) by L-aromatic amino acid decarboxylase, thereby bypassing DBH (Figure 1).
#### Figure 1.
Synthesis of norepinephrine from dopamine or droxidopa
* Administration of 100-600 mg droxidopa orally twice or three times daily increases blood pressure and concomitantly restores plasma NE to the normal range; however, urinary NE excretion exceeds normal levels.
* Although NE becomes detectable, plasma epinephrine concentration still remains below a detectable level.
* Droxidopa administration restores the dopamine precursor, L-3,4-dihydroxyphenylalanine (DOPA), to within the normal range and reduces dopamine (DA) somewhat, but plasma concentration of DA and its metabolites remains somewhat elevated [Biaggioni & Robertson 1987].
* This favorable alteration in catecholamines alleviates the orthostatic hypotension and restores function to a near-normal level. An affected female completed a marathon approximately five years after her diagnosis, while taking 1,200 mg of droxidopa daily [Garland et al 2005b].
Individuals with DBH deficiency respond somewhat to standard therapeutic approaches for autonomic failure but not nearly as well as they respond to droxidopa.
* Fludrocortisone, at dosages of 0.1-0.3 mg daily, has been used with some benefit, but marked orthostatic hypotension still occurs.
* Midodrine 2.5-10 mg three times/day can be used to treat orthostatic hypotension.
By the time they are diagnosed, affected individuals have generally developed ways of coping with their presyncopal symptoms. Squatting or sitting/lying down can prevent falls.
Ptosis can be corrected by surgery.
Nasal stuffiness should be treated as needed.
### Surveillance
Renal function should be assessed by BUN and plasma creatinine at a minimum of every two years and more often if a loss of function is evident. Plasma magnesium and potassium should also be assessed.
Affected individuals should be queried at least yearly about continued efficacy of droxidopa against orthostatic hypotension and symptoms. Adjustment of dosage may be required.
Individuals on droxidopa should be encouraged to report any adverse events to their physician.
Affected persons or their physicians should consult with an autonomic specialist prior to undergoing surgical procedures or becoming pregnant. The type or dose of anesthesia may need to be modified, and droxidopa doses regulated.
### Agents/Circumstances to Avoid
Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
The safety of using droxidopa during pregnancy has not been systematically evaluated, but its use appears justified considering that it is converted to norepinephrine, and that withholding treatment is likely to be riskier. At least three affected women have successfully given birth [Scurrah et al 2002; Author, personal observation] following uncomplicated deliveries while on droxidopa treatment.
Based on these experiences, it is recommended that affected pregnant women have their blood pressure monitored regularly throughout the pregnancy and delivery so that the droxidopa dose can be modified as needed. One or two extra doses of droxidopa should be available to be taken as needed at the time of delivery. Dose adjustment may also be required post partum.
The effects of maternal droxidopa therapy on the developing fetus have not been studied in humans; however, studies on pregnant animals do not suggest an increased risk for malformations in offspring. See MotherToBaby for further information on medication use during pregnancy.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for 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
| Dopamine Beta-Hydroxylase Deficiency | c0342687 | 29,594 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1474/ | 2021-01-18T21:30:01 | {"mesh": ["C535600"], "synonyms": []} |
A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.
*[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
| Zygomycosis | c0026718 | 29,595 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73263 | 2021-01-23T17:03:57 | {"gard": ["10224"], "mesh": ["D020096", "D009091"], "umls": ["C0026718", "C0043541"], "icd-10": ["B46.0", "B46.1", "B46.2", "B46.3", "B46.4", "B46.5", "B46.8", "B46.9"], "synonyms": ["Mucormycosis"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 9 (MC1DN9) is caused by homozygous mutation in the NDUFS6 gene (603848) on chromosome 5p15.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Features
Kirby et al. (2004) reported 2 unrelated patients with complex I deficiency. Both patients had lethal infantile mitochondrial disease with death within the first 2 weeks of life.
Spiegel et al. (2009) reported 2 unrelated infants, both of Jewish Caucasus descent, with fatal infantile lactic acidosis resulting from severe complex I deficiency.
Molecular Genetics
Kirby et al. (2004) reported 2 unrelated patients with complex I deficiency caused by different homozygous mutations in the NDUFS6 gene (603848.0001; 603848.0002).
Spiegel et al. (2009) reported 2 unrelated infants, both of Jewish Caucasus descent, with fatal infantile lactic acidosis resulting from severe complex I deficiency due to a homozygous mutation in the NDUFS6 gene (C115Y; 603848.0003). Complex I activity was about 50% or less in muscle biopsies. The Jewish population of the Caucasus region of central Asia is believed to have originated from southern Iran and is a genetically isolated community.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Roving eye movements \- Nystagmus RESPIRATORY \- Abnormal breathing \- Hypoventilation ABDOMEN Gastrointestinal \- Poor feeding MUSCLE, SOFT TISSUES \- Hypotonia, severe NEUROLOGIC Central Nervous System \- Encephalopathy \- Lethargy \- Few or absent spontaneous movements \- Poor reflexes \- Seizures (in some patients) METABOLIC FEATURES \- Lactic acidosis LABORATORY ABNORMALITIES \- Increased serum and CSF lactate \- Mitochondrial complex I deficiency in various tissues MISCELLANEOUS \- Onset soon after birth \- Death in early infancy MOLECULAR BASIS \- Caused by mutation in the NADH-ubiquinone oxidoreductase subunit S6 gene (NDUFS6, 603848.0001 ) ▲ 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 I DEFICIENCY, NUCLEAR TYPE 9 | c2936907 | 29,596 | omim | https://www.omim.org/entry/618232 | 2019-09-22T15:43:00 | {"mesh": ["C537475"], "omim": ["618232"], "orphanet": ["2609"]} |
Nevus of Ito
Other namesNevus fuscocaeruleus acromiodeltoideus[1]
Blue-grey segmental patch over the right posterior shoulder of a neonate
SpecialtyOncology
SymptomsSimilar to Nevus of Ota but occurring on shoulder and chest; blue in color
Nevus of Ito (also known as "Nevus fuscoceruleus acromiodeltoideus") is a skin condition with similar features to the Nevus of Ota, but occurring in a different distribution.[2]:700
## See also[edit]
* Skin lesion
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nevus of Ito". www.orpha.net. Retrieved 21 April 2019.
2. ^ 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
* ICD-10: D22.5 (ILDS D22.504)
External resources
* Orphanet: 263432
* v
* t
* e
Skin cancer of nevi and melanomas
Melanoma
* Mucosal melanoma
* Superficial spreading melanoma
* Nodular melanoma
* lentigo
* Lentigo maligna/Lentigo maligna melanoma
* Acral lentiginous melanoma
* Amelanotic melanoma
* Desmoplastic melanoma
* Melanoma with features of a Spitz nevus
* Melanoma with small nevus-like cells
* Polypoid melanoma
* Nevoid melanoma
* Melanocytic tumors of uncertain malignant potential
Nevus/
melanocytic nevus
* Nevus of Ito/Nevus of Ota
* Spitz nevus
* Pigmented spindle cell nevus
* Halo nevus
* Pseudomelanoma
* Blue nevus
* of Jadassohn–Tièche
* Cellular
* Epithelioid
* Deep penetrating
* Amelanotic
* Malignant
* Congenital melanocytic nevus (Giant
* Medium-sized
* Small-sized)
* Balloon cell nevus
* Dysplastic nevus/Dysplastic nevus syndrome
* Acral nevus
* Becker's nevus
* Benign melanocytic nevus
* Nevus spilus
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
| Nevus of Ito | c0022283 | 29,597 | wikipedia | https://en.wikipedia.org/wiki/Nevus_of_Ito | 2021-01-18T18:37:32 | {"mesh": ["D010859"], "umls": ["C0022283"], "icd-10": ["D22.5"], "orphanet": ["263432"], "wikidata": ["Q7005037"]} |
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.
A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.
Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), a malformation of the airways (tracheal cartilaginous sleeve), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.
## Frequency
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Approximately 25 people with this condition have been reported worldwide.
## Causes
Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.
Some individuals with Beare-Stevenson cutis gyrata syndrome do not have identified mutations in the FGFR2 gene. In these cases, the cause of the condition is unknown.
### Learn more about the gene associated with Beare-Stevenson cutis gyrata syndrome
* FGFR2
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred 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
| Beare-Stevenson cutis gyrata syndrome | c1852406 | 29,598 | medlineplus | https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome/ | 2021-01-27T08:25:42 | {"gard": ["332"], "mesh": ["C565129"], "omim": ["123790"], "synonyms": []} |
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
## Epidemiology
The incidence is estimated to be 1/12,000 - 15,000 live births.
## Clinical description
The syndrome shows a variable clinical picture, even within a family, depending on the associated anomalies. It presents in the neonatal period with cyanosis due to choanal atresia (60-70%, bony/membranous, unilateral/bilateral) and/or cyanotic heart disease (75-80%; e.g. conotruncal heart malformations, aortic arch defects; see these terms). Coloboma, more likely retinal, is present in 75-90% and can be in conjunction with microphthalmia and lead to vision loss. Ear anomalies (95-100%) include low-set lop or cup-shaped outer ear with deficient cartilage of the outer pinna and a triangular concha, middle ear ossicle malformations, leading to chronic serous otitis media, and sensorineural hearing loss. Cranial nerve abnormalities are frequent and include abnormalities of the olfactory, facial, auditory, vestibular nerves and those involved in swallowing. Central nervous system (CNS) defects involve cerebral atrophy, corpus callosum agenesis, posterior fossa anomalies and cerebellar hypoplasia. Genital hypoplasia and delayed puberty are observed. Failure to thrive is often related to the severe sucking/swallowing problems. Motor delay (due to balance problems), speech delay and delay in fine motor skills are also noted. Dysmorphic facial features include square face, prominent forehead, prominent nasal bridge and asymmetry from the facial palsy. Upper airway defects (e.g. congenital laryngomalacia, congenital tracheomalacia; see these terms), tracheoesophageal fistula (TEF) and gastroesophageal reflux are common. Endocrine dysfunction (growth hormone deficiency, hypogonadotropic hypogonadism) and immune abnormalities (e.g. severe combined immune deficiencies, isolated T-cell lymphopenia) are also observed. Chest infections are frequent. Patients may manifest an autistic like behavior associated with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) and anxiety.
## Diagnostic methods
Diagnosis is initially clinical. Any of the major 4 C's criteria should prompt the physician to screen for additional anomalies. Magnetic resonance imaging of the temporal lobe demonstrates absent or hypoplastic semi-circular canals (most predictive feature of the CHD7 mutation). Diagnosis is confirmed by genetic testing.
## Differential diagnosis
Differential diagnosis includes Abruzzo-Erickson syndrome, Kallmann syndrome, 22q11.2 deletion syndrome, VACTERL/VATER association, Kabuki syndrome, renal coloboma syndrome, Cat-eye syndrome, Joubert syndrome, BOR syndrome, 5q11.2 microdeletion syndrome (see these terms) and other chromosomal microdeletion syndromes.
## Antenatal diagnosis
Prenatal diagnosis involves detection by ultrasound in the 2nd trimester of polyhydramnios, CNS, heart and genitourinary malformations, ear anomalies. Molecular studies can be performed.
## Genetic counseling
CHARGE syndrome is either sporadic (97%) or shows an autosomal dominant transmission. There is a 1-2% risk of gonadal mosaicism.
## Management and treatment
Management requires a multi-disciplinary approach (involving dieticians, gastroenterologists, endocrinologists, cardiologists) that associates surgical management, services for persons with vision and hearing loss (deaf/blind services), occupational therapy, physiotherapy, speech/language therapy, cochlear implant, behavior therapy and psychological counseling.
## Prognosis
Mortality is high during the neonatal period often due to the combination of cyanotic heart disease, TEF, choanal atresia, T-cell deficiency and brain anomalies. Mortality and morbidity in the post-neonatal period are often related to post-anesthesia events and feeding problems resulting in aspiration pneumonia.
*[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
| CHARGE syndrome | c0265354 | 29,599 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=138 | 2021-01-23T18:35:09 | {"gard": ["29"], "mesh": ["D058747"], "omim": ["214800"], "umls": ["C0265354"], "icd-10": ["Q87.8"], "synonyms": ["CHARGE association", "Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "Hall-Hittner syndrome"]} |
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