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Acute disseminated encephalomyelitis (ADEM) is a neurological condition characterized by a brief but intense attack of inflammation in the brain and spinal cord. This may lead to damage of the layer of insulation around the nerves (myelin) within affected areas. ADEM often follows viral infection, or less often, vaccinations for measles, mumps, or rubella (MMR). Symptoms usually appear rapidly, beginning with fever, fatigue, headache, nausea and vomiting. Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most people begin to recover within days, with total or near-total recovery within a few months. Some people may have lifelong neurological impairments, and very rarely, severe cases can be fatal.
*[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
|
Acute disseminated encephalomyelitis
|
c0014059
| 28,300 |
gard
|
https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis
| 2021-01-18T18:02:19 |
{"mesh": ["D004673"], "umls": ["C0014059"], "orphanet": ["83597"], "synonyms": ["ADE", "ADEM"]}
|
A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.
*[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
|
Trisomy 8q
|
c0795829
| 28,301 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1752
| 2021-01-23T17:45:36 |
{"gard": ["5362"], "mesh": ["C538020"], "umls": ["C0795829"], "icd-10": ["Q92.2"], "synonyms": ["Duplication 8q"]}
|
A number sign (#) is used with this entry because of evidence that global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is caused by heterozygous mutation in the ZNF148 gene (601897) on chromosome 3q21.
Description
GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).
Clinical Features
Stevens et al. (2016) reported 4 unrelated children with a similar intellectual disability syndrome. The patients presented at birth with respiratory insufficiency, hypotonia, and feeding problems. Three patients had abnormal prenatal imaging findings, including cystic kidneys in 2, one of whom also had a thin corpus callosum, and enlarged cerebral ventricles in the third. The most severely affected patient was a male who died at 6 days of age. He had dysmorphic features and multiple congenital anomalies, including small fontanel, flat occiput, coarse square-shaped face, broad nasal bridge, wide-set eyes with infraorbital creases, retrognathia, upturned nose, prominent columella, long smooth prominent philtrum, narrow palate, widely spaced inverted nipples, and talipes equinovarus. He also had multicystic dysplastic right kidney, left hydronephrosis, and open ductus arteriosus. The 3 other patients, all girls, had delayed psychomotor development with walking around age 3 to 4 years, poor expressive speech, and intellectual disability. All attended special schools, and total IQ of 2 patients was listed as 58 and 59, respectively. Common dysmorphic features included short stature, triangular or oval face, pointed chin, epicanthal folds, wide-set eyes, up- or down-slanting palpebral fissures, smooth or deeply grooved philtrum, prominent columella, wide mouth, and abnormally shaped ears. One patient had very poor growth and severe microcephaly (-8.7 SD), another had documented growth hormone deficiency, and 2 had hyperopia. All had feeding problems, and 1 was still tube-fed at age 6.7 years due to gastrointestinal dysmotility. One of the girls also had a multicystic dysplastic right kidney, coarctation of the aorta, and mitral valve prolapse, but the other 2 girls did not have renal or cardiac anomalies. Brain imaging showed absence of the corpus callosum in 2 patients and hypoplastic corpus callosum in the other 2 patients.
Molecular Genetics
In 4 unrelated children with GDACCF, Stevens et al. (2016) identified 4 different de novo heterozygous truncating mutations in the ZNF148 gene (601897.0001-601897.0004). All mutations occurred in the last exon (exon 9) and were predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein. Functional studies of the variants and studies of patient cells were not performed, but Stevens et al. (2016) postulated that a truncated protein could have a dominant-negative or toxic gain-of-function effect. The mutations were found by whole-exome sequencing of a cohort of 2,172 patients with intellectual disability or multiple congenital anomalies. Variants in additional genes were detected in 3 patients, but these could not be related to the phenotype.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Poor overall growth HEAD & NECK Head \- Microcephaly (in 1 of 4 patients) Face \- Triangular face \- Pointed chin \- Coarse face \- Smooth philtrum \- Frontal bossing Ears \- Abnormally shaped ears Eyes \- Epicanthal folds \- Telecanthus \- Downslanting palpebral fissures \- Upslanting palpebral fissures \- Short palpebral fissures \- Hyperopia Nose \- Prominent columella Mouth \- Wide mouth CARDIOVASCULAR Heart \- Cardiac defects (in 2 of 4 patients) \- Patent ductus arteriosus \- Aortic coarctation \- Mitral valve stenosis \- Hypoplastic left heart syndrome RESPIRATORY \- Respiratory insufficiency, neonatal ABDOMEN Gastrointestinal \- Poor feeding GENITOURINARY Kidneys \- Cystic kidneys (in 2 of 4 patients) \- Dysplastic kidneys (in 2 of 4 patients) SKELETAL Feet \- Club feet \- Flat feet MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Delayed walking \- Intellectual disability \- Poor speech \- Thin corpus callosum \- Absent corpus callosum \- Enlarged ventricles ENDOCRINE FEATURES \- Growth hormone deficiency (1 patient) MISCELLANEOUS \- Four unrelated patients have been reported (last curated December 2016) \- Variable phenotype \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the zinc finger protein 148 (ZNF148, 601897.0001 ) ▲ 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
|
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
|
c4310644
| 28,302 |
omim
|
https://www.omim.org/entry/617260
| 2019-09-22T15:46:20 |
{"omim": ["617260"]}
|
Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
*[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 lactase deficiency
|
c0268179
| 28,303 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53690
| 2021-01-23T17:03:39 |
{"gard": ["12311"], "mesh": ["C562600"], "omim": ["223000"], "umls": ["C0268179"], "icd-10": ["E73.0"]}
|
Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers). The range and severity of symptoms varies greatly from person to person. TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.
*[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
|
Trichorhinophalangeal syndrome type 2
|
c0023003
| 28,304 |
gard
|
https://rarediseases.info.nih.gov/diseases/7801/trichorhinophalangeal-syndrome-type-2
| 2021-01-18T17:57:18 |
{"mesh": ["D015826"], "omim": ["150230"], "orphanet": ["502"], "synonyms": ["TRPS 2", "Langer Giedion Syndrome", "LGS", "Deletion 8q24.1", "Monosomy 8q24.1", "Trichorhinophalangeal syndrome type II", "Giedion-Langer syndrome"]}
|
## Clinical Features
Coy et al. (1996) noted that thiamine deficiency is associated with 2 neurologic disorders, beriberi and Wernicke-Korsakoff syndrome. Beriberi is caused by lack of dietary thiamine and its symptoms include myocardial failure, reversible by thiamine treatment. Wernicke-Korsakoff syndrome is characterized by acute encephalopathy followed by chronic impairment of short-term memory. Early treatment with high doses of thiamine stabilizes the disease, yet thiamine deficiency is not sufficient to cause the syndrome.
Biochemical Features
Blass and Gibson (1977) found that transketolase (606781) in fibroblasts from patients with Wernicke-Korsakoff syndrome bound thiamine pyrophosphate less avidly than normal. The abnormality persisted through serial passages in cell culture in the presence of excess thiamine and no ethanol.
Nixon et al. (1984) studied red cell transketolase by 2 techniques. Apparent Km values for the cofactor thiamine diphosphate were similar for patients and controls. However, isoelectric focusing separated red cell transketolase into different isozymes characterized by pI values in the range 6.6 to 9.2. The isozyme pattern found in 39 of 42 patients with Wernicke-Korsakoff syndrome was present in only 8 of 36 controls.
Using isoelectric focusing of human erythrocyte transketolase to reexamine the isoenzyme patterns on which the results of Nixon et al. (1984) were based, Kaufmann et al. (1987) concluded that the method used 'does not permit the distinction of transketolase variants, that would allow to postulate a genetic polymorphism....' In comparing the nucleotide sequence of the transketolase coding region in fibroblasts derived from 2 Wernicke-Korsakoff patients with that of 2 nonalcoholic controls, Abedinia et al. (1992) could find no differences.
Inheritance
Patients with Wernicke-Korsakoff syndrome appear to have an inborn error of metabolism that is clinically important only when the diet is inadequate in thiamine. Probably this means that the Wernicke-Korsakoff syndrome is a recessive disorder, presumably autosomal recessive. Two of the patients with the syndrome whose cells were studied by Blass and Gibson (1977) were female. Mukherjee et al. (1987) confirmed the observation of Blass and Gibson (1977) in 3 Wernicke-Korsakoff patients. Furthermore, they reported a similar transketolase abnormality in familial chronic alcoholic males and in their sons who did not have any history of alcohol abuse. Leigh et al. (1981) found an anomaly of the enzyme transketolase in both of monozygotic twins: one with Wernicke-Korsakoff syndrome and one 'normal.' The role of environmental factors in 'bringing out' the defect was nicely demonstrated.
Population Genetics
Studies of a nonalcoholic Amish family suggested that the transketolase abnormality may occur in nonalcoholic populations and that it is present in both male and female sibs. This might be expected with autosomal recessive inheritance. Europeans are more vulnerable to this syndrome than are Asians (and probably Africans) on the same thiamine-deficient diet. The syndrome is said to be rare in American blacks.
Molecular Genetics
In comparing the nucleotide sequence of the transketolase coding region in fibroblasts derived from 2 Wernicke-Korsakoff patients with that of 2 nonalcoholic controls, Abedinia et al. (1992) could find no differences.
A variant transketolase enzyme has been proposed to be associated with Wernicke-Korsakoff syndrome; however, no mutations have been found in the transketolase gene cloned from these patients (McCool et al., 1993).
Coy et al. (1996) raised the possibility that variation in the X-linked TKTL1 gene (300044) is responsible for the genetic predisposition to the development of Wernicke-Korsakoff syndrome.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Ophthalmoplegia \- Horizontal nystagmus \- Lateral rectus palsy \- Ptosis (rare) NEUROLOGIC Central Nervous System \- Ataxia \- Ocular muscle abnormalities \- Coma (if untreated) Peripheral Nervous System \- Polyneuropathy Behavioral Psychiatric Manifestations \- Confusion \- Disorientation \- Agitated delirium \- Korsakoff's psychosis \- Impaired memory \- Stupor ▲ 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
|
WERNICKE-KORSAKOFF SYNDROME
|
c0349464
| 28,305 |
omim
|
https://www.omim.org/entry/277730
| 2019-09-22T16:21:11 |
{"doid": ["10915"], "mesh": ["D020915"], "omim": ["277730"], "synonyms": ["Alternative titles", "TRANSKETOLASE DEFECT", "ALCOHOL-INDUCED ENCEPHALOPATHY"]}
|
A number sign (#) is used with this entry because Senior-Loken syndrome-5 (SLSN5) is caused by homozygous or compound heterozygous mutation in the IQCB1 gene (609237) on chromosome 3q13.
For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Description
Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).
Mapping
Otto et al. (2005) identified a cohort of unrelated individuals with nephronophthisis, 435 with isolated kidney involvement and 92 with SLSN. In this cohort, recessive mutations in NPHP1 (607100), NPHP2 (INVS; 243305), NPHP3 (608002), or NPHP4 (607215) had been detected in 151 of 435 individuals with NPHP (35%) and in 19 of 92 individuals with SLSN (21%). To identify additional genes causing NPHP and SLSN, Otto et al. (2005) carried out a genomewide screen in a consanguineous Turkish kindred in which linkage to known NPHP loci had been excluded. They obtained a significant maximum lod score of 3.458 at marker D3S1267 on chromosome 3q21.1.
Molecular Genetics
By haplotype analysis, Otto et al. (2005) refined the critical genetic region for SLSN5 to an 8.7-Mb interval containing the IQCB1 gene. They identified 8 different mutations in the IQCB1 gene in patients with SLSN, including an arg461-to-ter mutation (R461X; 609237.0001) in the Turkish family in which the SLSN5 locus was mapped. All individuals with IQCB1 mutations had retinitis pigmentosa, and Otto et al. (2005) concluded that mutation in IQCB1 is the most frequent cause of SLSN.
In a cohort of 276 individuals diagnosed with an early-onset form of retinal dystrophy designated Leber congenital amaurosis (LCA; see 204000) who were negative for mutation in 8 known LCA genes, Stone et al. (2011) identified homozygosity or compound heterozygosity for frameshift or nonsense IQCB1 mutations in 9 patients (see, e.g., 609237.0001 and 609237.0006-609237.0008). None of the patients had overt renal disease in the first decade of life, but 2 of the oldest patients, aged 23 and 14 years, had developed severe renal disease, and another patient had an elevated creatinine level at 19 years of age. Stone et al. (2011) suggested that patients with molecularly uncharacterized LCA should be screened for mutations in the NPHP5 (IQCB1) and NPHP6 (CEP290; 610142) genes, because a subset of patients without current evidence of kidney disease may harbor mutations in these genes and should be followed by nephrologists familiar with inherited renal disease.
In a cohort of more than 150 unrelated LCA patients who were negative for mutation in known LCA-associated genes, Estrada-Cuzcano et al. (2011) identified 3 patients with large homozygous regions encompassing the IQCB1 gene. Direct sequencing of IQCB1 coding exons in these 3 patients revealed homozygosity for a 2-bp deletion (609237.0002) and a 2-bp duplication in 2 of the patients, respectively; both mutations had previously been identified in patients diagnosed with Senior-Loken syndrome (Otto et al., 2005). Analysis of IQCB1 in 222 additional LCA patients revealed frameshift and nonsense mutations in 9 more patients from 7 families (see, e.g., 609237.0001). Reevaluation of renal function in the 11 mutation-positive patients led to the diagnosis of SLSN in 7 of them, in whom nephronophthisis developed between the ages of 3 years and 50 years. The remaining 4 patients, whose mutations had all previously been identified in SLSN patients, retained normal kidney function at ages 3, 8, 15, and 34 years, respectively. Estrada-Cuzcano et al. (2011) concluded that IQCB1 represented a new gene for LCA, but noted that the patients were at high risk for developing renal failure.
In the probands from 2 consanguineous Saudi Arabian families with LCA, who were known to be negative for mutation in known LCA-associated genes, Wang et al. (2011) identified homozygosity for a splice site mutation in the IQCB1 gene. One of the probands also displayed midface hypoplasia and psychomotor delay; in that patient, the authors noted that rare variants were also found in the ACAT1 (607809) and FGFR2 (176943) genes, which had been associated with psychomotor delay and midface hypoplasia, respectively. In addition, homozygosity for a nonsense mutation in IQCB1 was identified in the proband from a third Saudi Arabian LCA family. The mutations segregated with disease in each family and were not found in 200 matching controls or in the dbSNP (build 130) or 1000 Genomes Project databases. Wang et al. (2011) stated that no kidney defects were observed at the time of diagnosis of LCA in these patients.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Retinitis pigmentosa (onset in infancy to early childhood) \- Leber congenital amaurosis GENITOURINARY Kidneys \- Nephronophthisis \- End stage renal disease MISCELLANEOUS \- Genetic heterogeneity (see 266900 for summary) \- Some patients do not manifest renal disease in the first decade of life MOLECULAR BASIS \- Caused by mutation in the IQ motif-containing protein B1 gene (IQCB1, 609237.0001 ) ▲ 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
|
SENIOR-LOKEN SYNDROME 5
|
c0403553
| 28,306 |
omim
|
https://www.omim.org/entry/609254
| 2019-09-22T16:06:32 |
{"doid": ["0050576"], "mesh": ["C537580"], "omim": ["609254"], "orphanet": ["3156"]}
|
A number sign (#) is used with this entry because of evidence that immunodeficiency-50 (IMD50) is caused by hemizygous mutation in the MSN gene (309845) on chromosome Xq11.
Description
IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).
Clinical Features
Lagresle-Peyrou et al. (2016) reported 7 males from 5 unrelated families with a primary immunodeficiency characterized by the onset of recurrent bacterial or VZV infections in early childhood. Bacterial infections involved the respiratory, urinary, and gastrointestinal tracts. Three of the 5 patients who presented with VZV infections developed a complicated course with respiratory and skin manifestations. Aside from VZV, there was no recurrence of viral infections. Additional features included eczema and recurrent molluscum. The patients ranged in age from 4 to 69 years, and aside from episodic infections, all were in good general health without additional manifestations, impaired growth, developmental defects, or impaired chronic respiratory function. Laboratory studies showed early-onset and persistent lymphopenia, fluctuating neutropenia that responded to G-CSF in 2 patients, and hypogammaglobulinemia. CD4+ and CD8+ T cells were decreased, naive CD45RA+ T cells were low, and there were increased proportions of senescent CD8+ T cells that were positive for marker CD57. T-cell proliferative responses and antibody formation were impaired. The patients also had low levels of circulating NK and B cells. Bone marrow examination showed normal cell distribution, indicating a normal hematopoietic differentiation process, and the patients had a normal-sized thymus; these findings were consistent with impaired T-cell egress from the thymus.
Inheritance
The transmission pattern of immunodeficiency in the families reported by Lagresle-Peyrou et al. (2016) was consistent with X-linked recessive inheritance.
Molecular Genetics
In 6 patients from 4 unrelated families with IMD50, Lagresle-Peyrou et al. (2016) identified a hemizygous missense mutation in the MSN gene (R171W; 309845.0001). The mutations in 2 families were identified by whole-exome sequencing and confirmed by Sanger sequencing. A seventh man from a fifth family carried a hemizygous truncating mutation in the MSN gene (R553X; 309845.0002). Four unaffected mothers carried the mutation in the heterozygous state; their peripheral blood cells showed completely skewed X-inactivation patterns, whereas buccal cells showed normal X inactivation. Western blot analysis showed low levels of the mutant protein in patient T-cell blasts. Intracellular flow cytometric analysis showed that patient granulocytes, monocytes, and platelets expressed normal MSN, whereas a subset of patient T and B cells were MSN-negative. Patient cells showed a decrease in MSN expression over time, particularly in senescent CD8+ T cells, activated CD4+ T cells, and switched CD27+ memory B cells. Patient T cells showed impaired proliferative responses after activation by certain mitogens, and this defect could be rescued by expression of wildtype MSN. Patient T cells also showed variable defects in cell migration and adhesion. Formation of immunologic synapses was normal.
INHERITANCE \- X-linked recessive RESPIRATORY \- Respiratory infections, recurrent ABDOMEN Gastrointestinal \- Gastrointestinal tract infections, recurrent GENITOURINARY \- Urinary tract infections, recurrent SKIN, NAILS, & HAIR Skin \- Eczema IMMUNOLOGY \- Recurrent infections, bacterial \- Varicella zoster virus (VZV) infections \- Lymphopenia \- Hypogammaglobulinemia \- Neutropenia, fluctuating \- Decreased numbers of T cells \- Increased proportion of senescent T cells \- Decreased numbers of NK cells \- Decreased numbers of B cells \- Impaired T-cell migration and adhesion MISCELLANEOUS \- Onset in early childhood \- Female carriers are unaffected MOLECULAR BASIS \- Caused by mutation in the moesin gene (MSN, 309845.0001 ) ▲ 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
|
IMMUNODEFICIENCY 50
|
c4310812
| 28,307 |
omim
|
https://www.omim.org/entry/300988
| 2019-09-22T16:19:01 |
{"omim": ["300988"], "orphanet": ["504530"], "synonyms": ["IMMUNODEFICIENCY 50, X-LINKED RECESSIVE", "CID due to Moesin deficiency", "X-linked Moesin-associated immunodeficiency", "Alternative titles", "MSN-related combined immunodeficiency"]}
|
A number sign (#) is used with this entry because of evidence that myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is caused by homozygous mutation in the YARS2 gene (610957) on chromosome 12p11.
Description
Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).
For a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).
Clinical Features
Sasarman et al. (2002) reported a 34-year-old man of Lebanese descent (patient E) with a lifelong history of muscle weakness, exercise intolerance, occasional muscle cramping and stiffness after running, and small muscles. Around age 31 years, he was found to have sideroblastic anemia. Physical examination showed asymmetric ptosis, limited lateral gaze, muscle atrophy, muscle weakness of the proximal upper extremities and distal lower extremities, and areflexia. Serum lactate was increased. Muscle biopsy showed ragged-red fibers and a generalized severe defect in mitochondrial respiratory chain activity, with a decrease in mtDNA-encoded COX subunits as assessed by immunoblot analysis. Electron microscopy of muscle biopsy showed subsarcolemmal accumulation of abnormal mitochondria, many with paracrystalline inclusions. Studies of cybrid cells with patient nuclei and control mitochondria indicated that the defect was nuclear in origin; in addition, mutations in mitochondrial genes were ruled out. Patient-derived myotubes showed a defect in mitochondrial translation, whereas mitochondrial translation in myoblasts was similar to that in controls. Sasarman et al. (2002) concluded that this patient had a defect in a nuclear-encoded and developmentally-regulated gene important for mitochondrial translation in skeletal muscle. There was no family history of a similar disorder.
Riley et al. (2010) reported 2 sibs, born of consanguineous Lebanese parents, with MLASA2. Both developed transfusion-dependent sideroblastic anemia in infancy, followed by progressive lethargy, muscle weakness, and exercise intolerance in childhood associated with persistent lactic acidemia. By age 17 years the proband was wheelchair-dependent and had developed respiratory insufficiency necessitating ventilation. Both also had dysphagia requiring enteral nutrition in their teens. The proband had hypertrophic cardiomyopathy, which was not noted in his affected sister. Cognitive function remained normal in both patients. Skeletal muscle biopsy of the proband showed subsarcolemmal mitochondrial aggregates, some ragged-red fibers, and decreased cytochrome oxidase staining. Another Lebanese patient from an unrelated consanguineous family had a similar disorder, with the addition of delayed motor milestones and later onset of anemia at age 7 years. Despite the lack of blood transfusions, she was able to walk and showed only a mild skeletal myopathy and mild muscle weakness at age 24 years. Riley et al. (2013) reported follow-up of the sibs reported by Riley et al. (2010). The brother died of respiratory failure at age 18 years, whereas his sister showed some improvement in clinical features.
Shahni et al. (2013) reported a male child, born to unrelated Lebanese parents, with MLASA2. Anemia was diagnosed at 1 year of age; subsequent bone marrow analysis at age 5 years revealed ringed sideroblasts. He developed transfusion-dependent anemia at age 11 years. Other features included lactic acidosis, failure to thrive, hypertrophic cardiomyopathy, and severe myopathy, leading to respiratory failure. Shahni et al. (2013) reviewed the 5 reported patients with MLASA2 and YARS2 mutations and noted the characteristic features of gastrointestinal and feeding difficulties, respiratory failure requiring mechanical ventilation, and cardiomyopathy.
Riley et al. (2013) reported 3 additional patients with MLASA2 confirmed by genetic analysis. Two unrelated patients of Lebanese origin who were both homozygous for the P52L mutation (610957.0001) had markedly different phenotypes. One girl presented at age 8 weeks in hypotensive shock after an infectious illness and was found to have left ventricular hypertrophy, hepatomegaly with raised transaminases and coagulopathy, lactic acidosis, and sideroblastic anemia. She died of cardiorespiratory failure at age 3 months. The second patient was found to have sideroblastic anemia at age 23 years. She also had scoliosis and a mild restrictive pulmonary defect, but no other abnormalities. A sister of the second patient had died of cirrhosis induced from iron overload by transfusion for sideroblastic anemia.
Nakajima et al. (2014) reported 2 sibs, born of consanguineous Turkish parents, with a severe fatal form of MLASA2. On the fourth day of life, the proband presented with poor feeding and tachypnea due to lactic metabolic acidosis. A few weeks later, he developed anemia and recurrent metabolic decompensation including lactic acidosis, ketosis, and hyperammonemia. At 2 months of age, he showed axial hypotonia, and brain MRI showed a thin corpus callosum. He also had cardiac hypertrophy and evidence of a proximal renal tubulopathy. He died at age 3 months from cardiopulmonary arrest. The patient's affected sib died at age 2 days following a similar clinical course.
Biochemical Features
In skeletal muscle cells isolated from patients with myopathy, lactic acidosis, and sideroblastic anemia, Riley et al. (2010) demonstrated low activities of mitochondrial respiratory complexes I, III, and IV, with normal or increased levels of nuclear-encoded complex II. These changes were not observed in fibroblasts. The skeletal muscle enzyme deficiencies were confirmed by immunoblotting, which also showed an increase in complex V.
Inheritance
MLASA2 is an autosomal recessive disorder (Riley et al., 2010).
Diagnosis
Shahni et al. (2013) suggested that the evaluation of patients with features of MLASA should include direct sequence analysis of the YARS2 gene as well as of the PUS1 gene (608109), which is mutated in MLASA1 (600462), to prevent the need for invasive muscle biopsy.
Molecular Genetics
By genomewide linkage analysis followed by candidate gene sequencing of 2 consanguineous Lebanese families with MLASA2, Riley et al. (2010) identified a homozygous mutation in the YARS2 gene (F52L; 610957.0001). In vitro functional expression assays showed that the mutant YARS2 protein had an overall 9-fold loss of catalytic efficiency. The findings indicated that the mutation resulted in reduced aminoacylation efficiency, causing a defect in mitochondrial protein synthesis with a subsequent impairment of mitochondrial respiratory activity.
By direct sequence analysis of the YARS2 gene in a Lebanese boy with MLASA2, Shahni et al. (2013) identified homozygosity for the previously identified F52L mutation. The boy's parents, who were not known to be related, were heterozygous for the mutation, consistent with the hypothesis that F52L is a Lebanese founder mutation.
In a Lebanese man with MLASA2, previously reported by Sasarman et al. (2002), Sasarman et al. (2012) identified a homozygous missense mutation in the YARS2 gene (G46D; 610957.0002). Immunoblot analysis showed undetectable levels of YARS2 protein in patient-derived myoblasts and myotubes. Expression of wildtype YARS2 rescued the mitochondrial translation defect in patient-derived myoblasts and myotubes. Levels of YARS2 present in control myotubes was about twice that of control myoblasts, suggesting increased requirement for YARS2 as muscle differentiation progresses.
Riley et al. (2013) identified homozygous or compound heterozygous YARS2 mutations (610957.0001; 610957.0003-610957.0004) in 3 (25%) of 12 unrelated patients with myopathy, lactic acidosis, and sideroblastic anemia who underwent direct Sanger sequencing of the YARS2 gene. There was marked phenotypic variability, even among patients with the same homozygous mutation (F52L; 610957.0001), which Riley et al. (2013) postulated may have resulted from different background mitochondrial haplogroups. The most severely affected individual died at age 3 months of cardiorespiratory failure, whereas the patient with the mildest phenotype had mild nontransfusion-dependent sideroblastic anemia that presented at age 23 years. Patient-derived muscle cells showed a more severe mitochondrial respiratory chain defect compared to fibroblasts, suggesting increased requirement for YARS2 function in muscle tissue.
In 2 sibs, born of consanguineous Turkish parents, with a severe from of MLASA2 resulting in death at ages 2 days and 3 months, Nakajima et al. (2014) identified a homozygous missense mutation (S435G; 610957.0005) in the highly conserved S4-like anticodon-binding domain of YARS2. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive \- Poor growth HEAD & NECK Eyes \- Nystagmus \- Ptosis \- Strabismus CARDIOVASCULAR Heart \- Hypertrophic cardiomyopathy (in some patients) RESPIRATORY \- Respiratory insufficiency due to muscle weakness (in some patients) ABDOMEN Liver \- Hepatomegaly (in some patients) Gastrointestinal \- Dysphagia MUSCLE, SOFT TISSUES \- Exercise intolerance \- Muscle weakness, progressive \- Generalized muscle atrophy \- Subsarcolemmal mitochondrial aggregates \- Ragged red fibers (in some patients) \- Decreased cytochrome C oxidase activity \- Decreased activity of mitochondrial respiratory complexes I, III, and IV in muscle tissue METABOLIC FEATURES \- Lactic acidosis HEMATOLOGY \- Sideroblastic anemia LABORATORY ABNORMALITIES \- Increased serum lactate \- Abnormal liver enzymes (in some patients) MISCELLANEOUS \- Highly variable phenotype \- Onset in infancy or childhood \- Anemia may show onset in infancy \- Progressive disorder MOLECULAR BASIS \- Caused by mutation in the tyrosyl-tRNA synthetase 2 gene (YARS2, 610957.0001 ) ▲ 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
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
|
c1838103
| 28,308 |
omim
|
https://www.omim.org/entry/613561
| 2019-09-22T15:58:18 |
{"doid": ["0111186"], "mesh": ["C536101"], "omim": ["613561"], "orphanet": ["2598"]}
|
Human disease
Gnathostomiasis
Other namesGnathostoma, Larva migrans profundus, Nodular migratory eosinophilic panniculitis, Spiruroid larva migrans, Wandering swelling, Yangtze edema[1]
SpecialtyInfectious disease, helminthology
Gnathostomiasis (also known as larva migrans profundus[2]:436) is the human infection caused by the nematode (roundworm) Gnathostoma spinigerum and/or Gnathostoma hispidum, which infects vertebrates.
## Contents
* 1 Symptoms and signs
* 2 Causes
* 3 Transmission
* 4 Hosts
* 4.1 Intermediate host
* 4.2 Definitive host
* 5 Incubation period
* 6 Morphology
* 7 Life cycle
* 7.1 Life cycle in definitive hosts
* 7.2 Life cycle in humans
* 8 Diagnosis
* 9 Prevention
* 10 Treatment
* 11 Epidemiology
* 12 History
* 13 See also
* 14 References
* 15 External links
## Symptoms and signs[edit]
A few days after ingestion epigastric pain, fever, vomiting, and loss of appetite resulting from migration of larvae through intestinal wall to the abdominal cavity will appear in the patient.[3] Migration in the subcutaneous tissues (under the skin) causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Patches of edema appear after the above symptoms clear and are usually found on the abdomen.[3] These lesions vary in size and can be accompanied by pruritus, rash, and stabbing pain. Swellings may last for 1 to 4 weeks in a given area and then reappear in a different location.[3] Migration to other tissues (visceral larva migrans), can result in cough, hematuria, ocular (eye) involvement,[4] meningitis, encephalitis and eosinophilia. Eosinophilic myeloencephalitis may also result from invasion of the central nervous system by the larvae.[1]
## Causes[edit]
Human gnathostomiasis is infection by the migrating third-stage larvae of any of five species of Gnathostoma, which is type of worm (more specifically a type of nematode). The most common cause in Asia is G. spinigerum, and the most common cause in the Americas is G. binucleatum. G. hispidium and G. doloresi occur in East and Southeast Asia; the former has also been found in Eastern Europe. G. nipponicum occurs only in Japan and China.[5][6][7] There is one unconfirmed report of G. malaysiae causing disease in humans.[8]
## Transmission[edit]
Life-cycle of Gnathostoma
Gnathostomiasis is transmitted by the ingestion of raw, insufficiently cooked definitive hosts such as fresh water fish, poultry, or frogs.[citation needed]
In Thailand and Vietnam, the most common cause appears to be consumption of undercooked Asian swamp eels (Monopterus albus, also called Fluta alba) which transmit G. spinigerum.[9][10][11][12] Monopterus albus is an invasive species in North America, but no Gnathostoma infections in humans have yet been conclusively identified in the US.[13]
## Hosts[edit]
### Intermediate host[edit]
The primary intermediate host is the minute crustaceans of the genus Cyclops.[14] These crustaceans are then ingested by a second intermediate host, such as frogs.
### Definitive host[edit]
The definitive hosts for gnathostomiasis include cats, dogs, tigers, leopards, lions, mink, opossums, raccoons, poultry, frogs, freshwater fish, snakes or birds.[1]
## Incubation period[edit]
The incubation period for gnathostomiasis is 3–4 weeks when the larvae begin to migrate through the subcutaneous tissue of the body.[15]
## Morphology[edit]
The adult parasite is reddish-brown in color and has a globular cephalic dome that is separated from the rest of the body by constriction.[15] The posterior portion of the nematode is smooth while the anterior half is covered with fine leaf-like spines.[15] The head is round and contains 4 to 8 transverse rows of hooklets that are protected by a pair of fleshy lips . The males are shorter than the females, 11–25 mm (0.43–0.98 in) compared to 25–54 mm (0.98–2.13 in) respectively.[15] Eggs are oval and have a mucoid plug at one end.[15]
## Life cycle[edit]
### Life cycle in definitive hosts[edit]
Adult worms are found in a tumor located in the gastric wall of the definitive hosts and release eggs into the host's digestive tract. The eggs are then released with feces and in about a week hatch in water to develop into first stage larva.[16] Larvae are then ingested by minute copepods of the genus Cyclops.[17] Once entering the copepod, the larvae penetrate the gastric wall of their intermediate host and begin to develop into second-stage and even early third-stage larvae.[16] The copepods are then ingested by a second intermediate host such as fish, frogs, or snakes.[3] Within this second intermediate or definitive host the larva repeat a similar pattern of penetrating the gastric wall, but then continue to migrate to muscular tissue and develop into advanced third-stage larvae.[16] These larvae then encyst within the musculature of the new host.[18] If the cyst containing flesh of these hosts is ingested by a definitive host, such as dogs, and cats, the cysts are ingested and the larvae escape the cysts and penetrate the gastric wall.[16] These released larvae travel to the connective tissue and muscle as observed before and after 4 weeks they return to the gastric wall as adults.[16] Here they form a tumor and continue to mature into adults for the next 6–8 months.[3] Worms mate and females begin to excrete fertilized eggs with feces 8–12 months after ingestion of cysts.[14] They are passed out in the feces and eaten by another fish.[citation needed]
### Life cycle in humans[edit]
Infection of humans by gnathostomiasis is accidental because humans are not one of the definitive hosts of the parasite and do not allow the parasite to complete its life cycle. Infection in humans follows ingestion of raw or insufficiently cooked infected intermediate hosts.[14] The ingested third stage larva migrates from the gastric wall and its migration results in the symptoms associated with infection by gnathostomiasis.[3] The third stage larvae don't return to the gastric wall preventing it from maturing into adult worms, leaving the life cycle incomplete. Instead the larvae continue to migrate unpredictably unable to develop into adults, so eggs are seldom found in diagnostic tests.[1] This also means the number of worms present in humans is a reflection of the number of third stage larvae ingested.[citation needed]
## Diagnosis[edit]
Diagnosis of gnathostomiasis is possible (with microscopy) after removal of the worm. The primary form of diagnosis of gnathostomiasis is the identification of larva in the tissue.[1] Serological testing such as enzyme-linked immunosorbent assay (ELISA) or the Western blot are also reliable but may not be easily accessible in endemic areas.[1]
CT scanning or MRI can be used to help identify a soft tissue worm and when looking at CNS disease it can be used to reveal the presence of the worm.[3] The presence of haemorrhagic tracks on gradient-echo T2-weighted MRI is characteristic and possibly diagnostic.[6]
## Prevention[edit]
The best strategies for preventing accidental infection of humans is to educate those living in endemic areas to only consume fully cooked meat. The inability of the parasite to complete its life cycle within humans means that transmission can easily be contained by adequate preparation of meat from intermediate hosts. This is especially useful because of the difficulty and lack of feasibility inherent in eliminating all intermediate hosts of gnathostomiasis. So instead, individuals in endemic areas should avoid eating raw and undercooked meat in endemic areas, but this may be difficult in these areas. This is due to preference for dishes containing raw fish in these endemic areas.[citation needed]
The dish ceviche is native to Peru and a favorite of Mexico. It consists of onion, cubed fish, lime or lemon juice and Andean spices including salt and chili. The ingredients are mixed together and they are allowed to marinate several hours before being served at room temperature. Then in endemic areas in Southeast Asia there are traditional dishes associated with these areas that also include raw uncooked fish, such as koipla in Thailand, goi ca song in Vietnam, sashimi and sushi in Japan.[16]
Acknowledging these cultural traditions, individuals in these cultural can be educated on methods of adapting their food preparation activities in order to remove the larvae without greatly altering these traditional dishes. For instance, meat should be marinated in vinegar for six hours or in soy sauce for 12 hours in order to successfully kill the larvae. In areas with reliable electricity, meat can be frozen at -20 degrees Celsius for 3–5 days to achieve the same results of killing the larvae present.[14]
## Treatment[edit]
Surgical removal or treatment with albendazole or ivermectin is recommended. The most prescribed treatment for gnathostomiasis is surgical removal of the larvae but this is only effective when the worms are located in an accessible location.[1] In addition to surgical excision, albendazole and ivermectin have been noted in their ability to eliminate the parasite.[3] Albendazole is recommended to be administered at 400 mg daily for 21 days as an adjunct to surgical excision, while ivermectin is better tolerated as a single dose.[1] Ivermectin can also serve as a replacement for those that can't handle albendazole 200 ug/kg p.o. as a single dose.[1] However, ivermectin has been shown to be less effective than albendazole.
## Epidemiology[edit]
Endemic areas include Asia, Mexico, India and parts of South Africa.[3] Originally believed to be confined to Asia, in the 1970s gnathostomiasis was discovered in Mexico,[3] and found in Australia in 2011.[19][20] Even though it is endemic in areas of Southeast Asia and Latin America, it is an uncommon disease. However, researchers have noticed recently an increase in incidence. This disease is most common in both Thailand and Japan, but in Thailand it is responsible for most of the observed parasitic CNS infection.[14] It has long been recognised in China, but reports have only recently appeared in the English literature.[21]
## History[edit]
The first case of Gnathostoma infection was identified by Sir Richard Owen when inspecting the stomach of a young tiger that had died at London Zoo from a ruptured aorta.[22] However it was not until 1889 that the first human case was described by Levinson when he found the Gnathostoma larva in an infested Thai woman. The lifecycle of G. spinigerum was described by Svasti Daengsvang and Chalerm Prommas from Thailand in 1933 and 1936.[23] This delay in identification of the parasite in humans is due to the fact that humans are not a definitive host for this parasite making infection from this parasite rare. Gnathostomiasis infection is rare because the parasite must be digested when it has reached its third larvae stage, providing only a short time frame in which the parasite is capable of infecting humans. It is uncommon for the larvae to penetrate the skin of individuals exposed to contaminated food or water without ingestion.[14]
## See also[edit]
* List of parasites (human)
* List of migrating cutaneous conditions
## References[edit]
1. ^ a b c d e f g h i Gideon; Gnathostomiasis
2. ^ William D. James; Timothy G. Berger; Dirk M. Elston (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders Elsevier. ISBN 0-7216-2921-0.
3. ^ a b c d e f g h i j David T. John; William A. Petri (2006). "The blood- and tissue-dwelling nematodes". Markell and Voge's Medical Parasitology (9th ed.). Elsevier. pp. 274–321. ISBN 978-0-7216-4793-7.
4. ^ P. Barua; N. K. Hazarika; N. Barua; C. K. Barua; B. Choudhury (2007). "Gnathostomiasis of the anterior chamber". Indian Journal of Medical Microbiology. 25 (3): 276–8. doi:10.4103/0255-0857.34775. PMID 17901651.
5. ^ "CDC - DPDx - Gnathostomiasis". www.cdc.gov. 2019-05-07. Retrieved 2019-08-14.
6. ^ a b Katchanov J, Sawanyawisuth K, Chotmongkol V, Nawa Y (2011). "Neurognathostomiasis, a neglected parasitosis of the central nervous system". Emerging Infectious Diseases. 17 (7): 1174–1180. doi:10.3201/eid1707.101433. PMC 3321562. PMID 21762569.
7. ^ Herman JS, Chiodini PL (2009). "Gnathostomiasis, another emerging imported disease". Clin Microbiol Rev. 22 (3): 484–92. doi:10.1128/CMR.00003-09. PMC 2708391. PMID 19597010.
8. ^ Nomura Y, Nagakura K, Kagei N, Tsutsumi Y, Araki K, Sugawara M (2000). "Gnathostomiasis possibly caused by Gnathostoma malaysiae". Tokai J Exp Clin Med. 25 (1): 1–6. PMID 11023048.
9. ^ Setasuban P; Nuamtanong S; Rojanakittikoon V; Yaemput S; Dekumyoy P; Akahane H; Kojima S. (1991). "Gnathostomiasis in Thailand: a survey on intermediate hosts of Gnathostoma spp. with special reference to a new type of larvae found in Fluta alba". Southeast Asian J Trop Med Public Health. 22 Suppl: 220–4. PMID 1822890.
10. ^ Akahane H, Setasuban P, Nuamtanong S, Horiuchi S, Koga M, Kojima S (1995). "A new type of advanced third-stage larvae of the genus Gnathostoma in freshwater eels, Fluta alba, from Nakhon Nayok, central Thailand". Southeast Asian J Trop Med Public Health. 26 (4): 743–7. PMID 9139388.
11. ^ Saksirisampant W, Kulkaew K, Nuchprayoon S, Yentakham S, Wiwanitkit V (Mar 2002). "A survey of the infective larvae of Gnathostoma spinigerum in swamp eels bought in a local market in Bangkok, Thailand". Ann Trop Med Parasitol. 96 (2): 191–5. doi:10.1179/000349802125000295. PMID 12080980. S2CID 24447639.
12. ^ Sieu TP, Dung TT, Nga NT, Hien TV, Dalsgaard A, Waikagul J, Murrell KD (Feb 2009). "Prevalence of Gnathostoma spinigerum infection in wild and cultured swamp eels in Vietnam". J Parasitol. 95 (1): 246–8. doi:10.1645/GE-1586.1. PMID 19245276. S2CID 23748298.
13. ^ Nico LG, Paul Sharp P, Collins TM (2011). "Imported Asian swamp eels (Synbranchidae: Monopterus) in North American live food markets: potential vectors of non-native parasites". Aquatic Invasions. 6 (1): 69–76. doi:10.3391/ai.2011.6.1.08.
14. ^ a b c d e f Robert W. Tolan, Jr. (January 2009). "Gnathostomiasis". Medscape. Retrieved July 8, 2011.
15. ^ a b c d e G. N. Seal; A. K. Gupta; M. K. Das (1969). "Intra-ocular gnathostomiasis". Indian Journal of Ophthalmology. 17 (3): 109–13. PMID 5392612.
16. ^ a b c d e f K. Darwin Murrell; Bernard Fried (2007). Food-Borne Parasitic Zoonoses, Fish and Plant-Borne Parasites. World Class Parasites. 11. Springer. doi:10.1007/978-0-387-71358-8. ISBN 978-1-4419-4392-7.
17. ^ CDC Life Cycle of Gnathostomiasis
18. ^ Rebecca A. Cockman-Thomas; Curtis A. Colleton; Chris H. Gardiner; Wayne M. Meyers (1993). "Gnathostomiasis in a wild-caught nine-banded armadillo (Dasypus novemcinctus)". Laboratory Animal Science. 43 (6): 630–2. PMID 8158995.
19. ^ Cameron J Jeremiah; Chanad S Harangozo; Andrew J Fuller (2011). "Gnathostomiasis in remote northern Western Australia: the first confirmed cases acquired in Australia". Medical Journal of Australia. 195 (1): 42–44. doi:10.5694/j.1326-5377.2011.tb03188.x. PMID 21728942.
20. ^ "Couple eaten alive by tiny worms". Yahoo. July 5, 2011. Retrieved July 8, 2011.
21. ^ Dong Ming Li; Xue Rong Chen; Jing Song Zhou; Zhi Biao Xu; Yukifumi Nawa; Paron Dekumyoy (2009). "Short report: case of gnathostomiasis in Beijing, China" (PDF). American Journal of Tropical Medicine and Hygiene. 80 (2): 185–7. doi:10.4269/ajtmh.2009.80.185. PMID 19190210.
22. ^ Yangtse Oedema (Gnathostomiasis) Patient UK
23. ^ Valai Bussaratid; Srivicha Krudsood; Udomsak Silachamroon; Sornchai Looareesuwan (2005). "Tolerability of ivermectin in gnathostomiasis" (PDF). Southeast Asian Journal of Tropical Medicine and Public Health. 36 (3): 644–9. PMID 16124431.
## External links[edit]
* Gnathostomiasis at CDC
* Gnathostomiasis at eMedicine
Classification
D
* ICD-10: B83.1
* ICD-9-CM: 128.1
* MeSH: D006039
* DiseasesDB: 31667
External resources
* eMedicine: ped/877
* Patient UK: Gnathostomiasis
* v
* t
* e
Parasitic disease caused by helminthiases
Flatworm/
platyhelminth
infection
Fluke/trematode
(Trematode infection)
Blood fluke
* Schistosoma mansoni / S. japonicum / S. mekongi / S. haematobium / S. intercalatum
* Schistosomiasis
* Trichobilharzia regenti
* Swimmer's itch
Liver fluke
* Clonorchis sinensis
* Clonorchiasis
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* Heterophyes heterophyes
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Cestoda
(Tapeworm infection)
Cyclophyllidea
* Echinococcus granulosus / E. multilocularis
* Echinococcosis
* Taenia saginata / T. asiatica / T. solium (pork)
* Taeniasis / Cysticercosis
* Hymenolepis nana / H. diminuta
* Hymenolepiasis
Pseudophyllidea
* Diphyllobothrium latum
* Diphyllobothriasis
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Roundworm/
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infection
Secernentea
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(Filariasis)
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* Wuchereria bancrofti / Brugia malayi / |B. timori
* Lymphatic filariasis
Thelazioidea
* Gnathostoma spinigerum / G. hispidum
* Gnathostomiasis
* Thelazia
* Thelaziasis
Spiruroidea
* Gongylonema
Strongylida
(hookworm)
* Hookworm infection
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Rhabditida
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* Capillaria philippinensis
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* C. hepatica
Authority control
* NDL: 00575430
*[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
|
Gnathostomiasis
|
c0018013
| 28,309 |
wikipedia
|
https://en.wikipedia.org/wiki/Gnathostomiasis
| 2021-01-18T18:44:29 |
{"gard": ["9286"], "mesh": ["D058429"], "umls": ["C0018013"], "wikidata": ["Q2665559"]}
|
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
X-linked intellectual disability-seizures-psoriasis syndrome
|
c2931381
| 28,310 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3052
| 2021-01-23T17:28:49 |
{"gard": ["5238"], "mesh": ["C536978"], "omim": ["309480"], "umls": ["C2931381"], "icd-10": ["Q87.8"], "synonyms": ["Tranebjaerg-Svejgaard syndrome"]}
|
A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.
*[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
|
Didelphys uterus
|
c0266393
| 28,311 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180086
| 2021-01-23T18:56:43 |
{"umls": ["C0266393"], "icd-10": ["Q51.1"], "synonyms": ["Bicervical bicornuate uterus"]}
|
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: "Dissection" medical – news · newspapers · books · scholar · JSTOR (December 2013) (Learn how and when to remove this template message)
Dissection (medical)
Aortic dissection
SpecialtyVascular surgery
A dissection is a tear within the wall of a blood vessel, which allows blood to separate the wall layers. Usually, a dissection is an arterial wall dissection, but rarely it may be a vein wall dissection (VWD).[1]
By separating a portion of the wall of the artery (a layer of the tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.
## Contents
* 1 Description
* 2 Types
* 3 References
* 4 External links
## Description[edit]
Dissections become threatening to the health of the organism when growth of the false lumen prevents perfusion of the true lumen and the end organs perfused by the true lumen. For example, in an aortic dissection, if the left subclavian artery orifice were distal to the origin of the dissection, then the left subclavian would be said to be perfused by the false lumen, while the left common carotid (and its end organ, the left hemisphere of the brain) if proximal to the dissection, would be perfused by the true lumen proximal to the dissection.
MRI of an aortic dissection
1 Aorta descendens with dissection
2 Aorta isthmus
Vessels and organs that are perfused from a false lumen may be well-perfused to varying degrees, from normal perfusion to no perfusion. In some cases, little to no end-organ damage or failure may be seen. Similarly, vessels and organs perfused from the true lumen but distal to the dissection may be perfused to varying degrees. In the above example, if the aortic dissection extended from proximal to the left subclavian artery takeoff to the mid descending aorta, the common iliac arteries would be perfused from the true lumen distal to the dissection but would be at risk for malperfusion due to occlusion of the true lumen of the aorta by the false lumen.
## Types[edit]
Examples include:
* Aortic dissection (aorta)
* Coronary artery dissection (coronary artery)
* Carotid artery dissection (carotid artery)
* Vertebral artery dissection (vertebral artery)
Carotid and vertebral artery dissection are grouped together as "cervical artery dissection".
## References[edit]
1. ^ Salgado OJ, Chacón RE, Alcalá A, Alvarez G (2005). "Vein wall dissection: a rare puncture-related complication of brachiocephalic fistula. Gray-scale and color Doppler sonographic findings". J Clin Ultrasound. 33 (9): 464–7. doi:10.1002/jcu.20171. PMID 16281272.
## External links[edit]
Classification
D
* ICD-9-CM: 441.0, 443.2
* MeSH: D000784
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
This article related to pathology 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
|
Dissection (medical)
|
c0002949
| 28,312 |
wikipedia
|
https://en.wikipedia.org/wiki/Dissection_(medical)
| 2021-01-18T18:49:51 |
{"mesh": ["D000784"], "icd-9": ["441.0", "443.2"], "wikidata": ["Q2660911"]}
|
## Cloning and Expression
Hematopoietic precursor cells migrate to the thymus, where they differentiate into mature T lymphocytes. Aurrand-Lions et al. (1996) reported the cDNA cloning and functional analysis of mouse vanin-1 (vascular noninflammatory molecule-1), a novel cell surface molecule that is involved in the thymus homing of bone marrow cells. Vanin-1 is a glycosylphosphatidylinositol (GPI)-anchored molecule expressed by perivascular thymic stromal cells. Antibody against vanin-1 blocked thymus colonization by hematopoietic progenitor cells in both short- and long-term assays and interfered with lymphostromal cell adhesion. The authors suggested that vanin-1 regulates late adhesion steps of thymus homing under physiologic, noninflammatory conditions.
By searching an EST database with mouse vanin-1 and human vanin-2 (VNN2; 603571) cDNA sequences, Galland et al. (1998) identified cDNAs encoding human vanin-1 (VNN1). The deduced 513-amino acid VNN1 protein shares 78%, 64%, and 43% sequence identity with mouse vanin-1, VNN2, and biotinidase (BTD; 609019), respectively. Like mouse vanin-1, human VNN1 has a leader peptide and a C-terminal GPI cleavage motif. VNN1 protein translated in vitro migrated as 55- and 53-kD polypeptides. Northern blot analysis revealed that the 3.4-kb VNN1 mRNA is expressed in spleen, thymus, peripheral blood lymphocytes, and small intestine; minor transcripts were also detected.
Martin et al. (2001) found that the vanin family is encoded by at least 2 mouse genes, vanin-1 and vanin-3, and 3 human orthologous genes, VNN1, VNN2, and VNN3 (606592). They showed that the vanin genes encode different isoforms of the mammalian pantetheinase activity.
Pantetheinase is an amidohydrolase involved in the dissimilative pathway of CoA, allowing the turnover of the pantothenate moiety. By sequencing purified pantetheinase from pig kidney and searching databases, Maras et al. (1999) identified mouse and human VNN1 as homologs. They also identified human VNN2 and BTD as related proteins.
Gene Structure
Martin et al. (2001) reported the structural characterization of the human and mouse vanin genes. All contain 7 exons.
Mapping
By in situ hybridization, Galland et al. (1998) mapped the mouse vanin-1 gene to the proximal third of chromosome 10, which shows homology of synteny with human 6q21-q24. Using fluorescence in situ hybridization and analysis of somatic cell hybrids, they localized the human VNN1 gene to 6q23-q24. Galland et al. (1998) identified a YAC clone from 6q23-q24 that contained both the VNN1 and VNN2 genes.
Martin et al. (2001) found that the 3 human vanin genes are closely linked on 6q23-q24 and are aligned in the same transcriptional orientation. The 2 mouse vanin genes are located on chromosome 10A2B1.
Gene Function
The mouse vanin-1 molecule plays a role in thymic reconstitution following damage by irradiation. Pitari et al. (2000) demonstrated that the mouse vanin-1 molecule is a pantetheinase, i.e., an amidohydrolase that catalyzes the hydrolysis of D-pantetheine, permitting the recycling of pantothenate (vitamin B5) and the generation of an antioxidant metabolite, cysteamine.
The mammalian sex-determining pathway is controlled by the presence or absence of SRY (480000) expression in the embryonic gonad. To identify additional sex-determining or gonadal differentiation genes, Grimmond et al. (2000) screened for genes exhibiting sexually dimorphic patterns of expression in the mouse gonad at 12.5 and 13.5 days postcoitum, after overt gonad differentiation, by comparing complex cDNA probes derived from male and female gonadal tissue at these stages on microarrays constructed from a normalized urogenital ridge library. Using in situ hybridization analysis, they determined that mouse protease nexin-1 (177010) and Vnn1 exhibit male-specific expression prior to overt gonadal differentiation and are detected in the somatic portion of the developing gonad, suggesting to the authors a possible direct link to the testis-determining pathway for both genes.
VNN1 is a membrane-bound enzyme that regulates tissue adaptation to stress. Using immunohistochemistry, Rommelaere et al. (2013) found that Vnn1 was expressed in mouse liver in centrolobular hepatocytes. They identified a soluble form of VNN1 in mouse and human serum that was produced in liver, and they showed that cys213 contributed to the catalytic activity of mouse Vnn1. Ppara (170998) controlled Vnn1 expression in mouse liver and secretion in serum. Rommelaere et al. (2013) suggested that VNN1 could be a reliable reporter for PPARA-regulated liver responses to metabolic challenge.
Molecular Genetics
Quantitative differences in gene expression are thought to contribute to phenotypic differences between individuals. Goring et al. (2007) generated genomewide transcriptional profiles of lymphocyte samples from 1,240 participants in the San Antonio Family Heart Study. Evidence of significant heritability was found for the expression levels of 85% of the 19,648 detected autosomal transcripts. By linkage analysis, the authors uncovered more than 1,000 cis-regulated transcripts and showed that the expression quantitative trait loci with the most significant linkage evidence are often located at the structural locus of a given transcript. To highlight the usefulness of this much-enlarged map of cis-regulated transcripts for the discovery of genes that influence complex traits in humans, Goring et al. (2007) selected high density lipoprotein cholesterol (HDLC) concentration as a phenotype of clinical importance, and identified the cis-regulated VNN1 gene as harboring sequence variants that influence HDLC concentrations. Several VNN1 promoter variants showed highly significant association with HDLC concentration. Bioinformatic analysis revealed that one of these, the -137T allele (603570.0001), is embedded in a consensus Sp1 binding site. This and other information provided indirect support for functionality of this promoter variant.
Animal Model
Martin et al. (2004) generated Vnn1-deficient mice that lacked free cysteamine and examined their susceptibility to intestinal inflammation, either acute (NSAID administration) or chronic (Schistosoma mansoni infection). They found that Vnn1 -/- mice better controlled inflammatory reaction and intestinal injury in both experiments, and had increased gamma-glutamylcysteine synthetase (see 606857) activity and increased stores of reduced glutathione, as well as reduced inflammatory cell activation in inflamed tissues. Oral administration of cystamine reversed all aspects of the deficient phenotype. Martin et al. (2004) concluded that the pantetheinase activity of the vanin-1 molecule is a major regulator of intestinal inflammation, acting through cysteamine release.
Berruyer et al. (2004) observed resistance to oxidative injury induced by whole-body irradiation and paraquat poisoning, as well as improved thymic reconstitution, in mice lacking Vnn1. Protection from oxidative injury correlated with reduced apoptosis and inflammation and could be reversed by treatment with cystamine. Vnn1 -/- mice had enhanced gamma-glutamylcysteine synthetase activity in liver and elevated stores of glutathione. Expression of Vnn1 in wildtype mice was biphasic and regulated by antioxidant response elements in the Vnn1 promoter region. Berruyer et al. (2004) proposed that VNN1 is a key molecule in the regulation of the glutathione-dependent responses to oxidative injury in epithelial tissue and suggested that VNN1 inhibitors may be useful in treatment of radiation-induced damage.
Berruyer et al. (2006) found that Vnn1 deficiency protected mice from colitis in a mouse model. The protection was reversed by administration of cystamine or bisphenol A diglycidyl ether, an antagonist of PPARG (601487). By antagonizing Pparg, Vnn1 permitted production of inflammatory mediators by intestinal epithelial cells. Berruyer et al. (2006) proposed that VNN1 is an epithelial stress sensor that exerts dominant control over innate immune responses in tissue.
Meghari et al. (2007) infected mice lacking Vnn1 with Coxiella burnetii, a bacterium that survives in macrophages, and observed no differences in bacterial clearance or mortality, but they did note decreased formation of granulomas in the spleen and liver. Infected Vnn1 -/- mice exhibited slight impairment of macrophage recruitment and significant impairment of macrophage activation, with decreased expression of Inos (NOS2A; 163730) and Mcp1 (CCL2; 158105) and increased expression of arginase (ARG1; 608313) and Il10 (124092). Meghari et al. (2007) concluded that VNN1 has a role in granuloma formation in response to C. burnetii infection.
*[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
|
VANIN 1
|
c3888129
| 28,313 |
omim
|
https://www.omim.org/entry/603570
| 2019-09-22T16:12:52 |
{"omim": ["603570"]}
|
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
*[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
|
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
c4014479
| 28,314 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420584
| 2021-01-23T17:02:35 |
{"gard": ["13349"], "omim": ["615849"], "icd-10": ["Q87.8"], "synonyms": ["Culler-Jones syndrome"]}
|
## Clinical Features
Fryns et al. (1994) described a brother and sister, aged 8 and 15 years, respectively, with a subtype of complicated spastic paraplegia distinguished by the presence of macrocephaly and distinctive craniofacial appearance (broad and high forehead, deeply set eyes, short upper lip, prominent upper incisors, and everted lower lip).
A third patient who appeared to have this disorder was reported by Moog et al. (1998). Severe psychomotor retardation was present from birth. She was initially described as having a flaccid paresis, but by the age of 15 she developed spastic paraplegia, and later increased tone of the upper limbs as well. Seizures developed in adulthood. She developed progressive kyphoscoliosis and became bedridden. Her head circumference at 30 years of age was 58 cm (98th centile). Her craniofacial appearance showed a rectangular shape to the face, slight coarseness of features, broad forehead, prominent supraorbital ridges, deep-set eyes, and thick hair with a low posterior hairline. Published pictures showed a thin upper lip and short philtrum (Williams and Josephson, 2003). Neuroimaging showed cerebral atrophy.
Williams and Josephson (2003) presented an adult female patient with macrocephaly, mental retardation, seizures, spastic paraplegia and distinct craniofacial appearance. The patient manifested a striking resemblance to patient 1 of Fryns et al. (1994). Given that the spasticity in their patient was slowly progressive, the authors contacted Fryns, who confirmed that the spasticity in his 2 patients was slowly progressive also. Additionally, macrocephaly in his patients was not present early on, but was progressive as well.
Inheritance
Based on the occurrence of this disorder in sibs, Fryns et al. (1994) suggested autosomal recessive inheritance.
INHERITANCE \- Autosomal recessive GROWTH Other \- Truncal obesity HEAD & NECK Head \- Macrocephaly, postnatal onset Face \- Large, broad forehead \- Short philtrum Mouth \- Large mouth \- Thin upper lip Teeth \- Prominent upper incisors Neck \- Short neck CHEST External Features \- Broad thorax Breasts \- Widely spaced nipples SKELETAL Limbs \- Contractures of the knees NEUROLOGIC Central Nervous System \- Spastic paraplegia, progressive \- Seizures \- Mental retardation, mild to profound \- Cerebral atrophy ▲ 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
|
FRYNS MACROCEPHALY
|
c1838281
| 28,315 |
omim
|
https://www.omim.org/entry/600302
| 2019-09-22T16:16:27 |
{"mesh": ["C563963"], "omim": ["600302"], "orphanet": ["2429"], "synonyms": ["Alternative titles", "MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIAL APPEARANCE"]}
|
A number sign (#) is used with this entry because autosomal recessive congenital indifference to pain and autosomal recessive hereditary sensory neuropathy type IID (HSN2D) are both caused by homozygous or compound heterozygous mutations in the SCN9A gene (603415) on chromosome 2q24.
Description
Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).
Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).
For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400).
Nomenclature
Dyck et al. (1983) stated that congenital 'indifference' to pain is characterized by an absence of nerve pathology on histologic examination and can be distinguished from congenital 'insensitivity' to pain, which is associated with pathologic changes in peripheral nerves, as found in hereditary sensory and autonomic neuropathies, such as HSAN4 (256800) or HSAN5 (608654). Many cases reported as congenital indifference to pain or congenital analgesia were reported before the development of methods to assess the physiologic function of nerve fibers; therefore, Dyck et al. (1983) suggested that some of these cases may actually have been cases of HSAN.
Another interpretation of the distinction was provided by Cox et al. (2006) who noted that the term 'indifference' implies a lack of concern to a stimulus that is received and perceived through normal sensory pathways, whereas 'insensitivity' describes the absence of painful sensation or failure to receive perception due to a detectable defect in sensory pathways. Cox et al. (2006) thus suggested that congenital indifference to pain due to mutations in the SCN9A gene is actually a form of insensitivity to pain since the defect is due to a channelopathy that is not normally detected by routine histopathology. The authors proposed the term 'channelopathy-associated insensitivity to pain' for the disorder described here.
Clinical Features
Individuals with congenital indifference to pain have painless injuries beginning in infancy but otherwise normal sensory modalities. Perception of passive movement, joint position, and vibration are normal, as are tactile thresholds and light touch perception. Reflexes and autonomic responses are also normal. The axonal flare response after intradermal injection of histamine is normal, a finding that is in contrast to HSAN (Nagasako et al., 2003).
The first case of congenital analgesia is said to have been reported by Dearborn (1932). The patient made a living as a human pincushion act. A crucifixion had to be called off when a woman in the audience fainted after a spike was driven through one hand.
Fanconi and Ferrazzini (1957) described an affected brother and sister from consanguineous parents, and parental consanguinity has been noted in other cases (Ogden et al., 1959; Bertoye et al., 1964; Thiemann, 1961), suggesting autosomal recessive inheritance. Silverman and Gilden (1959) described a family in which 2 of 8 children of consanguineous parents were affected. Winkelmann et al. (1962) reviewed the subject of absence of pain, with a useful discussion of differential diagnosis.
Saldanha et al. (1964) described one family in which 3 brothers out of 10 sibs were affected and another family in which 2 sibs out of 11 were affected. The parents of the probands were normal and in 1 case were consanguineous. Gilly et al. (1964) described 2 affected sibs who were born of normal parents and were of normal intelligence. Osuntokun et al. (1968) described brother and half sister with congenital indifference to pain, who presumably had different fathers, both normal. They referred to the condition as 'pain asymbolia' and noted the association of auditory imperception. Gaudier et al. (1969) described affected brothers.
Baxter and Okzewski (1960) reported no anatomic abnormalities at autopsy. In several patients with congenital indifference to pain, Becak et al. (1964) found mosaicism of cells with normal karyotype and cells trisomic for a chromosome in the 13-15 group; Blau and Mutton (1967) could demonstrate no chromosomal abnormality.
Cox et al. (2006) described individuals from 3 Pakistani families with congenital inability to perceive any form of pain, in whom all other sensory modalities were preserved and the peripheral and central nervous systems were apparently otherwise intact. The trait was segregating as an autosomal recessive in the family. The index case was a 10-year-old child well known to the medical service after regularly performing 'street theater.' He placed knives through his arms and walked on burning coals, but experienced no pain. He died on his 14th birthday after jumping off a house roof. All affected individuals had injuries to their lips (some requiring plastic surgery) and/or tongue (with loss the distal third in 2 cases), caused by biting themselves in the first 4 years of life. The children were considered of normal intelligence by their parents and teachers. All could correctly perceive sensations of touch, warm and cold temperature, proprioception, tickle, and pressure, but not painful stimuli. Cox et al. (2006) referred to the disorder as 'channelopathy-associated insensitivity to pain.'
Weiss et al. (2011) found that individuals with channelopathy-associated insensitivity to pain caused by mutations in SCN9A were completely anosmic.
### Clinical Variability
Ebermann et al. (2008) reported an 11-year-old boy, born of Egyptian consanguineous parents, with a phenotype suggestive of Navajo neurohepatopathy (MTDPS6; 256810), including short stature, frequent painless fractures, bruises, and cuts, hepatomegaly with elevated liver enzymes, corneal ulcerations, and mild hypotonia. His 22-month-old sister had short stature, hepatomegaly, increased liver enzymes, and hypotonia. A cousin had died at age 8 years from liver failure. After genetic analysis excluded a mutation in the MPV17 gene (137960), Ebermann et al. (2008) postulated 2 recessive diseases. Genomewide linkage analysis and gene sequencing of the proband identified a homozygous mutation in the AGL gene (610860), consistent with glycogen storage disease III (GSD3; 232400), and a homozygous mutation in the SCN9A gene, consistent with congenital insensitivity to pain. His sister had the AGL mutation and GSD3 only. Ebermann et al. (2008) emphasized that consanguineous matings increase the risk of homozygous genotypes and recessive diseases, which may complicate genetic counseling.
### Hereditary Sensory and Autonomic Neuropathy, Type IID
Yuan et al. (2013) reported 2 Japanese sibs, born of consanguineous parents, and 1 unrelated Japanese patient with hereditary sensory and autonomic neuropathy. The phenotype was somewhat variable, even between the 2 sibs. A 50-year-old man developed decreased pain and temperature perception in the hands and feet in childhood, which progressed to the proximal limbs after age 40. He also had hyposmia, lack of sweating, skin lesions, including burn marks, and unilateral asymptomatic sensorineural hearing loss. There was mild weakness in the right lower limb, resulting in a steppage gait, and areflexia. His 55-year-old older sister had a history of recurrent fractures in childhood and had bone dysplasia with deformities of the elbow, foot, and lower limbs. She had no pain or temperature sensation in her feet as an adult. Other features included mild muscle weakness in the lower limbs and anhidrosis but not hyposmia or hearing loss. An unrelated 33-year-old man had decreased pain and temperature perception since birth, resulting in digital ulceration and deformities. Hyposmia and unilateral hearing loss were noted in early childhood. Other features included occasional urinary and fecal incontinence, reduced sweating, and reduced number of fungiform papillae on the tongue, consistent with autonomic dysfunction. He also had pigmentary skin lesions and left acetabular dysplasia resulting in asymmetric leg length. Vibration and joint position remained intact in all patients. Nerve conduction studies of the 2 unrelated men showed variably slowed sensory nerve conduction velocities (NCVs) and decreased sensory nerve action potential (SNAP) amplitudes in the median nerves. However, 1 patient had normal sural NCV and SNAP values. Sural nerve biopsy showed variable loss of myelinated fibers, which did not appear to correlate with symptoms in 1 patient. Both families were from the Kagoshima prefecture, but were unrelated.
Inheritance
The transmission pattern of HSAN2D in the families reported by Yuan et al. (2013) was consistent with autosomal recessive inheritance.
Mapping
In 3 northern Pakistani families segregating autosomal recessive 'channelopathy-associated insensitivity to pain,' Cox et al. (2006) mapped the trait to 2q24.3, a region containing the SCN9A gene, which encodes the alpha subunit of the voltage-gated sodium channel, Nav1.7 (2-point lod of 3.2 at theta = 0.0).
Molecular Genetics
By sequence analysis of the SCN9A gene in 3 northern Pakistani families segregating autosomal recessive 'channelopathy-associated insensitivity to pain,' Cox et al. (2006) identified 3 distinct homozygous nonsense mutations (603415.0005-603415.0007). By coexpression of wildtype or mutant human Nav1.7 with sodium channel beta-1 and beta-2 subunits in cultured cells, Cox et al. (2006) showed that these mutations caused loss of function of Nav1.7. In cells expressing mutant Nav1.7, the currents were no greater than background. The data suggested that SCN9A is an essential and nonredundant requirement for nociception in humans. Cox et al. (2006) suggested that these findings should stimulate the search for novel analgesics to target this sodium channel subunit selectively.
Goldberg et al. (2007) identified 10 different mutations in the SCN9A gene (see, e.g., 603415.0014-603415.0015), 9 of which were truncating mutations, in affected members of 9 different families with congenital insensitivity to pain. The families were from Canada, the U.S., and Argentina as well as various countries in Europe.
Weiss et al. (2011) studied the individual reported by Nilsen et al. (2009). This individual was heterozygous for a frameshift and nonsense mutation in the NaV1.7 protein. Weiss et al. (2011) also studied 2 other individuals, sibs, who were compound heterozygous for nonsense and frameshift mutations. None of the affected individuals was able to smell. In the case of the sibs, both parents, who were heterozygous, had intact olfactory sensation.
In 3 Japanese patients from 2 unrelated families with HSAN2D, Yuan et al. (2013) identified a homozygous truncating mutation in the SCN9A gene (603415.0028). The mutation was predicted to result in nonsense-mediated mRNA decay and loss of SCN9A function in nociceptive neurons.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing impairment, asymmetric (in some patients with HSAN2D) Nose \- Anosmia \- Hyposmia Mouth \- Reduced numbers of tongue fungiform papilla (in some patients with HSAN2D) GENITOURINARY Bladder \- Urinary incontinence (in some patients with HSAN2D) SKELETAL \- Neuropathic joints \- Painless fractures due to injury \- Bone deformities resulting from untreated fractures \- Bone dysplasia (in some patients) Hands \- Ulceration of digits Feet \- Ulceration of digits SKIN, NAILS, & HAIR Skin \- Distal painless ulcers \- Hypohidrosis (in patients with HSAN2D) \- Anhidrosis (in patients with HSAN2D) NEUROLOGIC Central Nervous System \- Isolated absence of pain sensation \- Anosmia \- Autonomic dysfunction (in patients with HSAN2D) Peripheral Nervous System \- Isolated absence of pain sensation \- Temperature sensation may be diminished \- All other sensory modalities are intact \- Normal peripheral nerve biopsy \- Hyporeflexia \- Loss of myelinated fibers seen in sural nerve biopsy (in patients with HSAN2D) \- Reduced sensory nerve action potential amplitudes (in patients with HSAN2D) \- Reduced sensory nerve conduction velocities (in patients with HSAN2D) LABORATORY ABNORMALITIES \- Normal axonal flare response after intradermal histamine injection MISCELLANEOUS \- Onset in infancy or childhood \- Variable severity (in patients with HSAN2D) \- Affected individuals are highly prone to burn-related injuries MOLECULAR BASIS \- Caused by mutation in the voltage-gated sodium channel, type IX, alpha subunit gene (SCN9A, 603415.0005 ) ▲ 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
|
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
|
c0020072
| 28,316 |
omim
|
https://www.omim.org/entry/243000
| 2019-09-22T16:26:20 |
{"mesh": ["D009477"], "omim": ["243000"], "orphanet": ["970", "88642"], "synonyms": ["Alternative titles", "INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED", "CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE", "ASYMBOLIA FOR PAIN"], "genereviews": ["NBK481553", "NBK49247"]}
|
Delusion that one is dead or non-existent
Cotard's delusion
Other namesCotard's syndrome, Walking Corpse Syndrome
The neurologist Jules Cotard (1840–89) described "The Delirium of Negation" as a mental illness of varied severity.
SpecialtyPsychiatry
Cotard's delusion, also known as walking corpse syndrome or Cotard's syndrome, is a rare mental disorder in which the affected person holds the delusional belief that they are dead, do not exist, are putrefying, or have lost their blood or internal organs.[1] Statistical analysis of a hundred-patient cohort indicated that denial of self-existence is present in 45% of the cases of Cotard's syndrome; the other 55% of the patients presented with delusions of immortality.[2]
In 1880, the neurologist Jules Cotard described the condition as Le délire des négations ("The Delirium of Negation"), a psychiatric syndrome of varied severity. A mild case is characterized by despair and self-loathing, while a severe case is characterized by intense delusions of negation and chronic psychiatric depression.[3][4]
The case of “Mademoiselle X” describes a woman who denied the existence of parts of her body and of her need to eat. She said that she was condemned to eternal damnation and therefore could not die a natural death. In the course of suffering "The Delirium of Negation", Mademoiselle X died of starvation.
Cotard's delusion is not mentioned in either the Diagnostic and Statistical Manual of Mental Disorders (DSM)[5] or the tenth edition of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) of the World Health Organization.[6]
## Contents
* 1 Signs and symptoms
* 1.1 Distorted reality
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Case studies
* 6 Cultural references
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Delusions of negation are the central symptom in Cotard's syndrome. The patient usually denies their own existence, the existence of a certain body part, or the existence of a portion of their body. Cotard's syndrome exists in three stages: (i) Germination stage: symptoms of psychotic depression and of hypochondria appear; (ii) Blooming stage: full development of the syndrome and delusions of negation; and (iii) Chronic stage: continued severe delusions along with chronic psychiatric depression.[7]
Cotard's syndrome withdraws the afflicted person from other people due to neglect of their personal hygiene and physical health. Delusions of negation of self prevent the patient from making sense of external reality, which then produces a distorted view of the external world. Such delusions of negation are usually found in schizophrenia. Although a diagnosis of Cotard's syndrome does not require the patient's having had hallucinations, the strong delusions of negation are comparable to those found in schizophrenic patients.[8]
### Distorted reality[edit]
The article Betwixt Life and Death: Case Studies of the Cotard Delusion (1996) describes a contemporary case of Cotard's delusion which occurred in a Scotsman whose brain was damaged in a motorcycle accident:
> [The patient's] symptoms occurred in the context of more general feelings of unreality and [of] being dead. In January 1990, after his discharge from hospital in Edinburgh, his mother took him to South Africa. He was convinced that he had been taken to Hell (which was confirmed by the heat) and that he had died of sepsis (which had been a risk early in his recovery), or perhaps from AIDS (he had read a story in The Scotsman about someone with AIDS who died from sepsis), or from an overdose of a yellow fever injection. He thought he had "borrowed [his] mother's spirit to show [him] around Hell" and that she was asleep in Scotland.[9]
The article Recurrent Postictal Depression with Cotard Delusion (2005) describes the case of a fourteen-year-old epileptic boy who experienced Cotard syndrome after seizures. His mental health history was of a boy expressing themes of death, chronic sadness, decreased physical activity in playtime, social withdrawal, and disturbed biological functions.
About twice a year, the boy suffered episodes that lasted between three weeks and three months. In the course of each episode, he said that everyone and everything was dead (including trees), described himself as a dead body, and warned that the world would be destroyed within hours. Throughout the episode the boy showed no response to pleasurable stimuli and had no interest in social activities.[10]
## Pathophysiology[edit]
Neural misfiring in the fusiform face area, in the fusiform gyrus (orange), might be a cause of the Cotard delusion.
In the cerebrum, organic lesions in the parietal lobe might cause the Cotard delusion.
The underlying neurophysiology and psychopathology of Cotard syndrome might be related to problems of delusional misidentification. Neurologically, Cotard's delusion (negation of the Self) is thought to be related to Capgras delusion (people replaced by impostors); each type of delusion is thought to result from neural misfiring in the fusiform face area of the brain, which recognizes faces, and in the amygdalae, which associate emotions to a recognized face.[11]
The neural disconnection creates in the patient a sense that the face they are observing is not the face of the person to whom it belongs; therefore, that face lacks the familiarity (recognition) normally associated with it. This results in derealization or a disconnection from the environment. If the observed face is that of a person known to the patient, they experience that face as the face of an impostor (Capgras delusion). If the patient sees their own face, they might perceive no association between the face and their own sense of self—which results in the patient believing that they do not exist (Cotard delusion).
Cotard's syndrome is usually encountered in people afflicted with psychosis, as in schizophrenia.[12] It is also found in clinical depression, derealization, brain tumor,[13][14] and migraine headaches.[11] The medical literature indicate that the occurrence of Cotard's delusion is associated with lesions in the parietal lobe. As such, the Cotard's delusion patient presents a greater incidence of brain atrophy—especially of the median frontal lobe—than do people in control groups.[15]
Cotard's delusion also has resulted from a patient's adverse physiological response to a drug (e.g., acyclovir) and to its prodrug precursor (e.g., valaciclovir). The occurrence of Cotard's delusion symptoms was associated with a high serum-concentration of 9-carboxymethoxymethylguanine (CMMG), the principal metabolite of acyclovir.
As such, the patient with weak kidneys (impaired renal function) continued risking the occurrence of delusional symptoms despite the reduction of the dose of acyclovir. Hemodialysis resolved the patient's delusions (of negating the self) within hours of treatment, which suggests that the occurrence of Cotard's delusion symptoms might not always be cause for psychiatric hospitalization of the patient.[16]
## Diagnosis[edit]
According to the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th Edition), Cotard's delusion falls under the category of somatic delusions, those that involve bodily functions or sensations.[citation needed]
There are no further diagnostic criteria for Cotard's syndrome within the DSM-5, and identification of the syndrome relies heavily on clinical interpretation.
Cotard's delusion should not be confused with delusional disorders as defined by the DSM-5, which involve a different spectrum of symptoms that are less severe and have lesser detrimental effect on functioning.
## Treatment[edit]
Pharmacological treatments, both mono-therapeutic and multi-therapeutic, using antidepressants, antipsychotics, and mood stabilizers have been successful.[17] Likewise, with the depressed patient, electroconvulsive therapy (ECT) is more effective than pharmacotherapy.[17]
Cotard's syndrome resulting from an adverse drug reaction to valacyclovir is attributed to elevated serum concentration of one of valacyclovir's metabolites, 9-carboxymethoxymethylguanine (CMMG). Successful treatment warrants cessation of valacyclovir. Hemodialysis was associated with timely clearance of CMMG and resolution of symptoms.
## Case studies[edit]
* One patient, called WI for privacy reasons, was diagnosed with Cotard's delusion after experiencing significant traumatic brain damage. Damage to the cerebral hemisphere, frontal lobe, and the ventricular system was apparent to WI's doctors after examining magnetic resonance imaging (MRI) and computed tomography (CT) scans. In January 1990, WI was discharged to outpatient care.
Although his family had made arrangements for him to travel abroad, he continued to experience significant persistent visual difficulties, which provoked a referral for ophthalmological assessment. Formal visual testing then led to the discovery of further damage. For several months after the initial trauma, WI continued to experience difficulty recognizing familiar faces, places, and objects. He was also convinced that he was dead and experienced feelings of derealization.
Later in 1990, after being discharged from the hospital, WI was convinced that he had gone to Hell after dying of either AIDS or sepsis. When WI finally sought out neurological testing in May 1990, he was no longer fully convinced that he was dead, although he still suspected it. Further testing revealed that WI was able to distinguish between dead and alive individuals with the exception of himself. When WI was treated for depression, his delusions of his own death diminished in a month.[18]
* In November 2016, the Daily Mirror newspaper carried a report of Warren McKinlay of Braintree in Essex, who developed Cotard's delusion following a serious motorbike accident.[19]
## Cultural references[edit]
The protagonist of Charlie Kaufman's 2008 movie Synecdoche, New York, is named Caden Cotard. Throughout the film Cotard thinks he is dying, and we see other examples of Cotard delusion with scenes such as when his daughter, Olive, begins to scream about having blood in her body and, as the film goes on, Cotard disappears from the play he is writing about his own life and is portrayed by other actors as he takes the role of a cleaning lady.[20]
## See also[edit]
* Depersonalization disorder
* Mortality salience
* Prosopagnosia
* Solipsism
* Mirrored-self misidentification
* Capgras delusion
* Fregoli delusion
* Dead (musician)
## References[edit]
1. ^ Berrios G.E.; Luque R. (1995). "Cotard's delusion or syndrome?". Comprehensive Psychiatry. 36 (3): 218–223. doi:10.1016/0010-440x(95)90085-a. PMID 7648846.
2. ^ Berrios G.E.; Luque R. (1995). "Cotard Syndrome: Clinical Analysis of 100 Cases". Acta Psychiatrica Scandinavica. 91 (3): 185–188. doi:10.1111/j.1600-0447.1995.tb09764.x. PMID 7625193.
3. ^ Cotard's syndrome at Who Named It?
4. ^ Berrios G.E.; Luque R. (1999). "Cotard's 'On Hypochondriacal Delusions in a Severe form of Anxious Melancholia'". History of Psychiatry. 10 (38): 269–278. doi:10.1177/0957154x9901003806. PMID 11623880.
5. ^ Debruyne H.; et al. (Jun 2009). "Cotard's syndrome: a review". Curr Psychiatry Rep. 11 (3): 197–202. doi:10.1007/s11920-009-0031-z. PMID 19470281.
6. ^ Debruyne Hans; et al. (2011). "Cotard's Syndrome". Mind & Brain. 2.
7. ^ Yarnada, K.; Katsuragi, S.; Fujii, I. (13 November 2007). "A Case Study of Cotard's syndrome: Stages and Diagnosis". Acta Psychiatrica Scandinavica. 100 (5): 396–398. doi:10.1111/j.1600-0447.1999.tb10884.x. PMID 10563458.
8. ^ Young, A.W., Robertson, I.H., Hellawell, D.J., de, P.K.W., & Pentland, B. (January 01, 1992). Cotard delusion after Brain Injury. Psychological Medicine, 22, 3, 799–804.
9. ^ Young, A.W.; Leafhead, K.M. (1996). "Betwixt Life and Death: Case Studies of the Cotard Delusion". In Halligan, P.W.; Marshall, J.C. (eds.). Method in Madness: Case studies in Cognitive Neuropsychiatry. Hove: Psychology Press. p. 155.
10. ^ Mendhekar, D. N., & Gupta, N. (January 01, 2005). "Recurrent Postictal Depression with Cotard delusion." Indian Journal of Pediatrics, 72, 6, 529–31.
11. ^ a b Pearn, J.; Gardner-Thorpe, C (May 14, 2002). "Jules Cotard (1840–1889) His Life and the Unique Syndrome that Bears his Name". Neurology (abstract). 58 (9): 1400–3. doi:10.1212/wnl.58.9.1400. PMID 12011289.
12. ^ Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J. (2015). "Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient". Case Reports in Psychiatry. 2015: 643191. doi:10.1155/2015/643191. ISSN 2090-682X. PMC 4458527. PMID 26101683.
13. ^ Gonçalves, Luís Moreira; Tosoni, Alberto; Gonçalves, Luís Moreira; Tosoni, Alberto (April 2016). "Sudden onset of Cotard's syndrome as a clinical sign of brain tumor" (PDF). Archives of Clinical Psychiatry (São Paulo). 43 (2): 35–36. doi:10.1590/0101-60830000000080. ISSN 0101-6083.
14. ^ Bhatia, M. S. (August 1993). "Cotard's Syndrome in parietal lobe tumor". Indian Pediatrics. 30 (8): 1019–1021. ISSN 0019-6061. PMID 8125572.
15. ^ Joseph, AB; O'Leary, DH (Oct 1986). "Brain Atrophy and Interhemispheric fissure Enlargement in Cotard's syndrome". The Journal of Clinical Psychiatry. 47 (10): 518–20. PMID 3759917.
16. ^ Anders Helldén; Ingegerd Odar-Cederlöf; Kajsa Larsson; Ingela Fehrman-Ekholm; Thomas Lindén (December 2007). "Death Delusion" (Journal Article). BMJ. 335 (7633): 1305. doi:10.1136/bmj.39408.393137.BE. PMC 2151143. PMID 18156240.
17. ^ a b Debruyne H.; Portzky M.; Van den Eynde F.; Audenaert K. (June 2010). "Cotard's syndrome: A Review". Current Psychiatry Reports. 11 (3): 197–202. doi:10.1007/s11920-009-0031-z. PMID 19470281.
18. ^ Halligan, P. W., & Marshall, J. C. (2013). Method in madness: Case studies in cognitive neuropsychiatry. Psychology Press.
19. ^ Soldier was 'walking corpse' after rare medical condition convinced him he was dead Daily Mirror by Martin Fricker and Sarah Arnold 30 November 2016
20. ^ "Nothing is what it seems to be in surrealistic "Synecdoche, New York"".
* Young, A., Robertson, I., Hellawell, D., De Pauw, K., & Pentland, B. (1992). Cotard delusion after brain injury. Psychological Medicine, 22(3), 799-804. doi:10.1017/S003329170003823X
## External links[edit]
Classification
D
* ICD-10: F22
* ICD-9-CM: 297.1
*[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
|
Cotard delusion
|
None
| 28,317 |
wikipedia
|
https://en.wikipedia.org/wiki/Cotard_delusion
| 2021-01-18T19:07:08 |
{"wikidata": ["Q1069110"]}
|
Intermittent explosive disorder
SpecialtyPsychiatry
Intermittent explosive disorder (sometimes abbreviated as IED) is a behavioral disorder characterized by explosive outbursts of anger and/or violence, often to the point of rage, that are disproportionate to the situation at hand (e.g., impulsive shouting, screaming or excessive reprimanding triggered by relatively inconsequential events). Impulsive aggression is not premeditated, and is defined by a disproportionate reaction to any provocation, real or perceived. Some individuals have reported affective changes prior to an outburst, such as tension, mood changes, energy changes, etc.[1]
The disorder is currently categorized in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) under the "Disruptive, Impulse-Control, and Conduct Disorders" category. The disorder itself is not easily characterized and often exhibits comorbidity with other mood disorders, particularly bipolar disorder.[2] Individuals diagnosed with IED report their outbursts as being brief (lasting less than an hour), with a variety of bodily symptoms (sweating, stuttering, chest tightness, twitching, palpitations) reported by a third of one sample.[3] Aggressive acts are frequently reported accompanied by a sensation of relief and in some cases pleasure, but often followed by later remorse.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 2.1 DSM-5 diagnosis
* 2.2 DSM-IV diagnosis
* 2.3 Differential diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 History
* 6 See also
* 7 References
* 8 External links
## Pathophysiology[edit]
Impulsive behavior, and especially impulsive violence predisposition, have been correlated to a low brain serotonin turnover rate, indicated by a low concentration of 5-hydroxyindoleacetic acid (5-HIAA) in the cerebrospinal fluid (CSF). This substrate appears to act on the suprachiasmatic nucleus in the hypothalamus, which is the target for serotonergic output from the dorsal and median raphe nuclei playing a role in maintaining the circadian rhythm and regulation of blood sugar. A tendency towards low 5-HIAA may be hereditary. A putative hereditary component to low CSF 5-HIAA and concordantly possibly to impulsive violence has been proposed. Other traits that correlate with IED are low vagal tone and increased insulin secretion. A suggested explanation for IED is a polymorphism of the gene for tryptophan hydroxylase, which produces a serotonin precursor; this genotype is found more commonly in individuals with impulsive behavior.[4]
IED may also be associated with lesions in the prefrontal cortex, with damage to these areas, including the amygdala, increasing the incidence of impulsive and aggressive behavior and the inability to predict the outcomes of an individual's own actions. Lesions in these areas are also associated with improper blood sugar control, leading to decreased brain function in these areas, which are associated with planning and decision making.[5] A national sample in the United States estimated that 16 million Americans may fit the criteria for IED.[6]
## Diagnosis[edit]
### DSM-5 diagnosis[edit]
The current DSM-5 criteria for Intermittent Explosive Disorder include:[7]
* Recurrent outbursts that demonstrate an inability to control impulses, including either of the following:
* Verbal aggression (tantrums, verbal arguments or fights) or physical aggression that occurs twice in a week-long period for at least three months and does not lead to destruction of property or physical injury (Criterion A1)
* Three outbursts that involve injury or destruction within a year-long period (Criterion A2)
* Aggressive behavior is grossly disproportionate to the magnitude of the psychosocial stressors (Criterion B)
* The outbursts are not premeditated and serve no premeditated purpose (Criterion C)
* The outbursts cause distress or impairment of functioning, or lead to financial or legal consequences (Criterion D)
* The individual must be at least six years old (Criterion E)
* The recurrent outbursts cannot be explained by another mental disorder and are not the result of another medical disorder or substance use (Criterion F)
It is important to note that DSM-5 now includes two separate criteria for types of aggressive outbursts (A1 and A2) which have empirical support:[8]
* Criterion A1: Episodes of verbal and/or non damaging, nondestructive, or non injurious physical assault that occur, on average, twice weekly for three months. These could include temper tantrums, tirades, verbal arguments/fights, or assault without damage. This criterion includes high frequency/low intensity outbursts.
* Criterion A2: More severe destructive/assaultive episodes which are more infrequent and occur, on average, three times within a twelve-month period. These could be destroying an object without regard to value, assaulting an animal or individual. This criterion includes high-intensity/low-frequency outbursts.
### DSM-IV diagnosis[edit]
The past DSM-IV criteria for IED were similar to the current criteria, however verbal aggression was not considered as part of the diagnostic criteria. The DSM-IV diagnosis was characterized by the occurrence of discrete episodes of failure to resist aggressive impulses that result in violent assault or destruction of property. Additionally, the degree of aggressiveness expressed during an episode should be grossly disproportionate to provocation or precipitating psychosocial stressor, and, as previously stated, diagnosis is made when certain other mental disorders have been ruled out, e.g., a head injury, Alzheimer's disease, etc., or due to substance abuse or medication.[2] Diagnosis is made using a psychiatric interview to affective and behavioral symptoms to the criteria listed in the DSM-IV.[citation needed]
The DSM-IV-TR was very specific in its definition of Intermittent Explosive Disorder which was defined, essentially, by exclusion of other conditions. The diagnosis required:
1. several episodes of impulsive behavior that result in serious damage to either persons or property, wherein
2. the degree of the aggressiveness is grossly disproportionate to the circumstances or provocation, and
3. the episodic violence cannot be better accounted for by another mental or physical medical condition.
### Differential diagnosis[edit]
Many psychiatric disorders and some substance use disorders are associated with increased aggression and are frequently comorbid with IED, often making differential diagnosis difficult. Individuals with IED are, on average, four times more likely to develop depressive or anxiety disorders, and three times more likely to develop substance use disorders.[9] Bipolar disorder has been linked to increased agitation and aggressive behavior in some individuals, but for these individuals aggressiveness is limited to manic and/or depressive episodes, whereas individuals with IED experience aggressive behavior even during periods with a neutral or positive mood.[10] In one clinical study, the two disorders co-occurred 60% of the time. Patients report manic-like symptoms occurring just before outbursts and continuing throughout. According to a study, the average onset age of IED was around five years earlier than the onset age of bipolar disorder, indicating a possible correlation between the two.[9] Similarly, alcohol and other substance use disorders may exhibit increased aggressiveness, but unless this aggression is experienced outside of periods of acute intoxication and withdrawal, no diagnosis of IED is given. For chronic disorders, such as PTSD, it is important to assess whether the level of aggression met IED criteria prior to the development of another disorder. In antisocial personality disorder, interpersonal aggression is usually instrumental in nature (i.e., motivated by tangible rewards), whereas IED is more of an impulsive, unpremeditated reaction to situational stress.[11]
## Treatment[edit]
Treatment is attempted through cognitive behavioral therapy and psychotropic medication regimens, though the pharmaceutical options have shown limited success.[12] Therapy aids in helping the patient recognize the impulses in hopes of achieving a level of awareness and control of the outbursts, along with treating the emotional stress that accompanies these episodes. Multiple drug regimens are frequently indicated for IED patients. Cognitive Relaxation and Coping Skills Therapy (CRCST) has shown preliminary success in both group and individual settings compared to waitlist control groups.[12] This therapy consists of 12 sessions, the first three focusing on relaxation training, then cognitive restructuring, then exposure therapy. The final sessions focus on resisting aggressive impulses and other preventative measures.[12]
In France, antipsychotics such as cyamemazine, levomepromazine and loxapine are sometimes used.[citation needed]
Tricyclic antidepressants and selective serotonin reuptake inhibitors (SSRIs, including fluoxetine, fluvoxamine, and sertraline) appear to alleviate some pathopsychological symptoms.[1][13] GABAergic mood stabilizers and anticonvulsive drugs such as gabapentin, lithium, carbamazepine, and divalproex seem to aid in controlling the incidence of outbursts.[1][14][15][16] Anxiolytics help alleviate tension and may help reduce explosive outbursts by increasing the provocative stimulus tolerance threshold, and are especially indicated in patients with comorbid obsessive-compulsive or other anxiety disorders.[14] However, certain anxiolytics are known to increase anger and irritability in some individuals, especially benzodiazepines.[17]
## Epidemiology[edit]
Two epidemiological studies of community samples approximated the lifetime prevalence of IED to be 4–6%, depending on the criteria set used.[6][18] A Ukrainian study found comparable rates of lifetime IED (4.2%), suggesting that a lifetime prevalence of IED of 4–6% is not limited to American samples.[19] One-month and one-year point prevalences of IED in these studies were reported as 2.0%[18] and 2.7%,[6] respectively. Extrapolating to the national level, 16.2 million Americans would have IED during their lifetimes and as many as 10.5 million in any year and 6 million in any month.
Among a clinical population, a 2005 study found the lifetime prevalence of IED to be 6.3%.[20]
Prevalence appears to be higher in men than in women.[14]
Of US subjects with IED, 67.8% had engaged in direct interpersonal aggression, 20.9% in threatened interpersonal aggression, and 11.4% in aggression against objects. Subjects reported engaging in 27.8 high-severity aggressive acts during their worst year, with 2–3 outbursts requiring medical attention. Across the lifespan, the mean value of property damage due to aggressive outbursts was $1603.[6]
A study in the March 2016 Journal of Clinical Psychiatry suggests a relationship between infection with the parasite Toxoplasma gondii and psychiatric aggression such as IED.[21]
## History[edit]
In the first edition of the American Psychiatric Association's Diagnostic and Statistical Manual (DSM-I), a disorder of impulsive aggression was referred to as a passive-aggressive personality type (aggressive type). This construct was characterized by a "persistent reaction to frustration are "generally excitable, aggressive, and over-responsive to environmental pressures" with "gross outbursts of rage or of verbal or physical aggressiveness different from their usual behavior".[citation needed]
In the third edition (DSM-III), this was for the first time codified as intermittent explosive disorder and assigned clinical disorder status under Axis I. However, some researchers saw the criteria as poorly operationalized.[22] About 80% of individuals who would now be diagnosed with the disorder would have been excluded.[citation needed]
In the DSM-IV, the criteria were improved but still lacked objective criteria for the intensity, frequency, and nature of aggressive acts to meet criteria for IED.[11] This led some researchers to adopt an alternate criteria set with which to conduct research, known as the IED-IR (Integrated Research). The severity and frequency of aggressive behavior required for the diagnosis was clearly operationalized, the aggressive acts were required to be impulsive in nature, subjective distress was required to precede the explosive outbursts, and the criteria allowed for comorbid diagnoses with borderline personality disorder and antisocial personality disorder.[23] These research criteria became the basis for the DSM-5 diagnosis.
In the current version of the DSM (DSM-5), the disorder appears under the "Disruptive, Impulse-Control, and Conduct Disorders" category. In the DSM-IV, physical aggression was required to meet criteria for the disorder, but these criteria were modified in the DSM-5 to include verbal aggression and nondestructive/noninjurious physical aggression. The listing was also updated to specify frequency criteria. Further, aggressive outbursts are now required to be impulsive in nature, and must cause marked distress, impairment, or negative consequences for the individual. Individuals must be at least six years old to receive the diagnosis. The text also clarified the disorder's relationship to other disorders such as ADHD and disruptive mood dysregulation disorder.[24]
## See also[edit]
* Episodic dyscontrol syndrome
* Passive–aggressive personality disorder
## References[edit]
1. ^ a b c McElroy SL (1999). "Recognition and treatment of DSM-IV intermittent explosive disorder". J Clin Psychiatry. 60 Suppl 15: 12–6. PMID 10418808.
2. ^ a b McElroy SL, Soutullo CA, Beckman DA, Taylor P, Keck PE (April 1998). "DSM-IV intermittent explosive disorder: a report of 27 cases". J Clin Psychiatry. 59 (4): 203–10, quiz 211. doi:10.4088/JCP.v59n0411. PMID 9590677.
3. ^ Tamam, L., Eroğlu, M., Paltacı, Ö. (2011). "Intermittent explosive disorder". Current Approaches in Psychiatry, 3(3): 387–425.
4. ^ Virkkunen M, Goldman D, Nielsen DA, Linnoila M (July 1995). "Low brain serotonin turnover rate (low CSF 5-HIAA) and impulsive violence". J Psychiatry Neurosci. 20 (4): 271–5. PMC 1188701. PMID 7544158.
5. ^ Best M, Williams JM, Coccaro EF (June 2002). "Evidence for a dysfunctional prefrontal circuit in patients with an impulsive aggressive disorder". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8448–53. doi:10.1073/pnas.112604099. PMC 123087. PMID 12034876.
6. ^ a b c d Kessler RC, Coccaro EF, Fava M, Jaeger S, Jin R, Walters E (June 2006). "The prevalence and correlates of DSM-IV intermittent explosive disorder in the National Comorbidity Survey Replication". Arch. Gen. Psychiatry. 63 (6): 669–78. doi:10.1001/archpsyc.63.6.669. PMC 1924721. PMID 16754840. Archived from the original on 2011-10-10.
7. ^ American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.
8. ^ Coccaro, EF, Lee, R, & McCloskey, MF (2014). Validity of the new A1 and A2 criteria for DSM-5 intermittent explosive disorder. Comprehensive Psychology, 55(2). doi: 10.1016/j.comppsych.2013.09.007.
9. ^ a b Coccaro, E.F. (2012). Intermittent explosive disorder as a disorder of impulsive aggression for DSM-5. "American Journal of Psychiatry," 169. 577-588.
10. ^ Coccaro, EF (2000). Intermittent explosive disorder. Current Psychiatry Reports, 2:67-71.
11. ^ a b Aboujaoude, E., & Koran, L. M. (2010). Impulsive control disorders. Cambridge University Press: Cambridge.
12. ^ a b c McCloskey, M.S., Noblett, K.L., Deffenbacher, J.L, Gollan, J.K., Coccaro, E.F. (2008) Cognitive-Behavioral Therapy for Intermittent Explosive Disorder: A Pilot Randomized Clinical Trial. 76(5), 876-886.
13. ^ Goodman, W. K., Ward, H., Kablinger, A., & Murphy, T. (1997). Fluvoxamine in the Treatment of Obsessive-Compulsive Disorder and Related Conditions. J Clin Psychiatry, 58(suppl 5), 32-49.
14. ^ a b c Boyd, Mary Ann (2008). Psychiatric nursing: contemporary practice. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. pp. 820–1. ISBN 0-7817-9169-3.
15. ^ Bozikas, V., Bascilla, F., Yulis, P., & Savvidou, I. (2001). Gabapentin for Behavioral Dyscontrol with Mental Retardation. Am J Psychiatry, 158(6), 965.
16. ^ Coccaro EF, et al. "A Double-Blind, Randomized, Placebo-Controlled Trial of Fluoxetine in Patients With Intermittent Explosive Disorder," Journal of Clinical Psychiatry (April 21, 2009): Vol. 70, No. 5, pp. 653–62.
17. ^ "Archived copy" (PDF). Archived (PDF) from the original on 2016-07-17. Retrieved 2016-10-13.CS1 maint: archived copy as title (link)
18. ^ a b Coccaro EF, Schmidt CA, Samuels JF et al. Lifetime and one-month prevalence rates of intermittent explosive disorder in a community sample. J Clin Psychiatry 65:820–824, 2004.
19. ^ Bromet EJ, Gluzman SF, Paniotto VI et al. Epidemiology of psychiatric and alcohol disorders in Ukraine: Findings from the Ukraine World Mental Health survey. Soc Psychiatry Psychiatr Epidemiol 40:681–690, 2005.
20. ^ Coccaro EF, Posternak MA, Zimmerman M (October 2005). "Prevalence and features of intermittent explosive disorder in a clinical setting". J Clin Psychiatry. 66 (10): 1221–7. doi:10.4088/JCP.v66n1003. PMID 16259534. Archived from the original on 2012-07-01.
21. ^ Coccaro EF, Lee R, Groer MW, Can A, Coussons-Read M, Postolache TT (March 2016). "Toxoplasma gondii Infection: Relationship With Aggression in Psychiatric Subjects" Archived 2016-03-24 at the Wayback Machine. J Clin Psychiatry 77(3): 334–341.
22. ^ Felthous et al., 1991
23. ^ Coccaro et al., 1998
24. ^ Highlights of Changes from DSM-IV-TR to DSM-5 by American Psychiatric Publishing. Retrieved from http://www.ldaofky.org/changes-from-dsm-iv-tr--to-dsm-5[permanent dead link][1].pdf on July 13, 2013.
## External links[edit]
Classification
D
* ICD-10: F63.8
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[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
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*[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
|
Intermittent explosive disorder
|
c0021776
| 28,318 |
wikipedia
|
https://en.wikipedia.org/wiki/Intermittent_explosive_disorder
| 2021-01-18T18:38:12 |
{"mesh": ["D007174"], "umls": ["C0152183", "C0021776"], "wikidata": ["Q18671"]}
|
A number sign (#) is used with this entry because GRACILE syndrome is caused by homozygous mutation in the BCS1L gene (603647) on chromosome 2q35.
Clinical Features
Fellman et al. (1998) described a neonatal metabolic disorder characterized by severe intrauterine growth retardation, fulminant lactic acidosis during the first days of life, Fanconi-type amino aciduria, and abnormalities in iron metabolism, including liver hemosiderosis. Affected infants failed to thrive, and they died neonatally or in early infancy. The disease was distinct from other lactic acidoses, neonatal hemochromatosis, and neonatal hepatitis.
Inheritance
Fellman et al. (1998) noted that in Finland 17 patients in 12 families had been diagnosed since 1965. Parents of the patients were healthy, and at least 8 families had 1 or 2 healthy children. The male/female ratio of the patients was 5 to 12. The occurrence of the disease in sibships and in both sexes in families with healthy parents was consistent with autosomal recessive inheritance.
Population Genetics
Because GRACILE syndrome had not been described elsewhere in the world, Fellman et al. (1998) presumed that it represented a new member of the Finnish disease heritage, a group of 30 rare monogenic disorders enriched or encountered only in Finland (Norio et al., 1973; de la Chapelle, 1993). The genealogies of the affected families were traced back to the mid-19th century and the oldest genealogy to the late 17th century, by using church records. Some ancient connections between the families had been established. On the basis of 14 cases diagnosed between 1985 and 1997, the incidence in Finland was estimated to be 1 in 56,000 newborns, with a disease allele frequency of 0.004 and a carrier frequency of 1 in 120. However, the disease is probably underdiagnosed and the true allele frequency may be higher.
Mapping
Visapaa et al. (1998) used the principle of linkage disequilibrium to map the disease locus to 2q33-q37. After an initial localization, conventional linkage analysis was performed in 8 families, with a total of 12 affected infants.
Clinical Management
Fellman et al. (2000) studied whether apotransferrin administration and exchange transfusion could improve outcome in patients with the recessive congenital iron overload disease presenting with intrauterine growth retardation, severe lactic acidosis, amino aciduria, and hemosiderosis of the liver. The serum transferrin concentration was increased to adult levels (2-5 g/L) by intravenous apotransferrin administrations and thereafter exchange transfusion was performed. Two patients were treated. In 1 patient, the transferrin saturation decreased from a baseline value of 100% and remained normal after the third exchange transfusion. In the second patient, a reversible beneficial effect was seen on transferrin saturation and bleomycin-detectable iron. However, both infants died later of the disease, at 10 and 8 weeks of age, respectively.
Molecular Genetics
In Finnish patients with GRACILE syndrome, Visapaa et al. (2002) identified a homozygous mutation in the BCS1L gene that resulted in a ser78-to-gly (S78G; 603647.0005) substitution. They also identified 5 different mutations in the BCS1L gene in 3 British infants, originally reported by Morris et al. (1995), with symptoms resembling those of GRACILE syndrome but with the additional features of complex III deficiency and neurologic symptoms. Visapaa et al. (2002) noted that the Turkish patients with mutations in the BCS1L gene reported by de Lonlay et al. (2001) had a different phenotype; see tubulopathy, encephalopathy, and liver failure due to complex III deficiency (124000).
Nomenclature
Fellman (2001) suggested the acronymic designation GRACILE syndrome for this disorder based on the cardinal clinical findings: growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death.
History
Because the ABCB6 gene (605452) maps to the same region of 2q33-q37 as the GRACILE syndrome and is involved in iron homeostasis, it was considered a highly probable candidate gene for this syndrome (Mitsuhashi et al., 2000; Lill and Kispal, 2001). Visapaa et al. (2002) could find no mutations in the coding region of the ABCB6 gene, and the expression level of ABCB6 in patient fibroblasts was found to be comparable to controls. Haplotype analysis of the critical DNA region provided evidence for positional exclusion also. Based on these data, Visapaa et al. (2002) concluded that ABCB6 is not the causative gene for GRACILE syndrome.
INHERITANCE \- Autosomal recessive GROWTH Height \- Birth length less than 48 cm (range 40-48cm) Weight \- Low birth weight (range 1310-2020g) HEAD & NECK Head \- Head circumference less than 32 cm (range 30-32cm) ABDOMEN Liver \- Hemosiderosis of the liver \- High liver iron content \- Cholestasis NEUROLOGIC Central Nervous System \- Hypotonia (in some patients) \- Seizures (in 1 patient) LABORATORY ABNORMALITIES \- High serum ferritin \- Low serum iron \- High transferrin saturation \- Aminoaciduria \- Lactic acidosis MISCELLANEOUS \- GRACILE - Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lacticacidosis, and Early death \- Death in early infancy MOLECULAR BASIS \- Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0005 ) ▲ 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
|
GRACILE SYNDROME
|
c1864002
| 28,319 |
omim
|
https://www.omim.org/entry/603358
| 2019-09-22T16:13:06 |
{"mesh": ["C537934"], "omim": ["603358"], "orphanet": ["53693"], "synonyms": ["Alternative titles", "GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH", "FINNISH LETHAL NEONATAL METABOLIC SYNDROME", "LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS", "FELLMAN SYNDROME"]}
|
A number sign (#) is used with this entry because polyglucosan body myopathy-1 (PGBM1) is caused by homozygous or compound heterozygous mutation in the RBCK1 gene (610924) on chromosome 20p13.
Description
Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013).
### Genetic Heterogeneity of Polyglucosan Body Myopathy
See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24.
Clinical Features
Boisson et al. (2012) reported 2 sisters and an unrelated boy with a complex phenotype characterized by primary immunodeficiency, a hyperinflammatory state, and cardiac and skeletal muscle amylopectinosis. All 3 patients presented with recurrent infections in early infancy associated with episodic fevers and evidence of systemic inflammation, often with lymphadenopathy. One patient had hepatosplenomegaly. The patients had invasive infections, septicemia, pneumonias, pyelonephritis, and gastrointestinal inflammation. In early childhood, all patients developed cardiomyopathy with congestive heart failure as well as progressive muscle weakness. Cardiac and skeletal muscle biopsy showed amylopectin-like deposits reminiscent of a glycogen storage disease. All patients also had severe failure to thrive. Immunologic workup in the 2 sisters showed memory B-cell deficiency and hyper-IgA syndrome, whereas workup in the boy showed leukocytosis, low IgA, and defective T-cell proliferation in response to CD3. The patients all died between ages 3.5 and 8 years.
Nilsson et al. (2013) reported 10 individuals from 8 families of various ethnic backgrounds with early-onset polyglucosan body myopathy without immunodeficiency, including 2 sibs who had previously been reported by Schoser et al. (2008) and 1 patient previously reported by de La Blanchardiere et al. (1994). Between 4 and 17 years of age, all 10 patients developed slowly progressive proximal leg muscle weakness resulting in difficulties in ambulation. Six patients who were homozygous or compound heterozygous for truncating mutations developed rapidly progressive dilated cardiomyopathy in adolescence, resulting in heart transplant in 4 patients and death in 1. Patients with a missense mutation had an apparently milder phenotype, with less muscle weakness and either later onset of cardiomyopathy or lack of cardiac involvement. Two patients had liver involvement with storage of polyglucosan, and 3 had abnormal liver enzymes but no apparent polyglucosan storage. One patient had some evidence of immune dysfunction, manifest as recurrent pharyngitis, lymphadenopathy, enteritis, and psoriasis, but immunologic workup did not reveal any dysfunction. None of the other patients had signs of severe immunodeficiency. Muscle fibers from heart and skeletal muscle showed accumulation of periodic acid-Schiff (PAS)-positive inclusions that differed from normal glycogen and consisted of partly filamentous material, consistent with polyglucosan.
Wang et al. (2013) reported 3 patients from 2 unrelated families with childhood onset of progressive muscle weakness and cardiomyopathy due to amylopectinosis. Growth and development were normal. The authors were unable to detect any evidence of immunodeficiency or autoinflammation in these patients.
Inheritance
The transmission pattern of early-onset polyglucosan myopathy in the families reported by Boisson et al. (2012) and Nilsson et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 French sisters and an Italian patient with early-onset polyglucosan myopathy with immunodeficiency, Boisson et al. (2012) identified homozygous or compound heterozygous truncating mutations in the RBCK1 gene (610924.0001 and 610924.0002). One allele of the French sisters carried a 32-kb deletion on chromosome 20p13 encompassing the last 3 exons of TRIB3 (607898) and the first 4 exons of RBCK1; TRIB3 mRNA levels were normal. The mutations were found by genomewide investigation for copy number variations and by whole-exome sequencing. Patient fibroblasts showed decreased expression of RBCK1 as well as 2 other components of the linear ubiquitin chain assembly complex (LUBAC), which could be restored by expression of wildtype RBCK1. Patient fibroblasts showed impaired NFKB (see 164011) activation with weak induction of genes targeted by TNF (191160) and IL1B (147720). M Transcriptional profiles of patient leukocytes, particularly monocytes, indicated hyperactivation with enhanced responses to IL1B. The consequences of RBCK1 and LUBAC deficiencies for IL1B responses thus differed between cell types, consistent with the unique association of autoinflammation and immunodeficiency in these patients.
In 10 patients from 8 unrelated families with early-onset polyglucosan body myopathy without evidence of severe immunodeficiency, Nilsson et al. (2013) identified homozygous or compound heterozygous mutations in the RBCK1 gene (see, e.g., 610924.0003-610924.0006). The mutations in the first family were found by whole-exome sequencing; subsequent mutations were found in 8 of 32 additional patients with polyglucosan storage disease who were screened for mutations in the RBCK1 gene. The mutations were predicted to result in a loss of function, but functional studies were not performed. Nilsson et al. (2013) noted that most of the mutations in their cohort affected the middle or C-terminal part of RBCK1, whereas those reported by Boisson et al. (2012) in patients with immunodeficiency affected the N-terminal region.
In 3 patients from 2 unrelated families with PGBM1, Wang et al. (2013) identified biallelic truncating mutations in the RBCK1 gene (see, e.g., 610924.0007 and 610924.0008). Functional studies were not performed.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive \- Poor growth HEAD & NECK Eyes \- Ptosis (in some patients) CARDIOVASCULAR Heart \- Dilated cardiomyopathy \- Amylopectinosis seen on biopsy \- Polyglucosan accumulation ABDOMEN Liver \- Hepatomegaly (in some patients) \- Polyglucosan accumulation (in some patients) SKELETAL Spine \- Scoliosis (in some patients) SKIN, NAILS, & HAIR Skin \- Eczema (in some patients) MUSCLE, SOFT TISSUES \- Proximal muscle weakness \- Myalgia \- Polyglucosan accumulation NEUROLOGIC Central Nervous System \- Impaired ambulation due to muscle weakness IMMUNOLOGY \- Immunodeficiency (in some patients) \- Recurrent infections (in some patients) \- Hyperinflammatory state (in some patients) \- Hyper IgA (in some patients) \- Decreased memory B cells (in some patients) \- Lymphadenopathy (in some patients) LABORATORY ABNORMALITIES \- Increased serum creatine kinase \- Abnormal liver enzymes (in some patients) MISCELLANEOUS \- Onset in infancy or early childhood \- Variable severity \- Progressive disorder MOLECULAR BASIS \- Caused by mutation in the RANBP-type and C3HC4-type zinc finger-containing 1 gene (RBCK1, 610924.0001 ) ▲ 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
|
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
|
c4014605
| 28,320 |
omim
|
https://www.omim.org/entry/615895
| 2019-09-22T15:50:43 |
{"omim": ["615895"], "orphanet": ["329173", "397937"], "synonyms": ["Alternative titles", "PGBM1", "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY"]}
|
Disease
Proliferative vitreoretinopathy
SpecialtyOphthalmology
Proliferative vitreoretinopathy (PVR) is a disease that develops as a complication of rhegmatogenous retinal detachment. PVR occurs in about 8–10% of patients undergoing primary retinal detachment surgery and prevents the successful surgical repair of rhegmatogenous retinal detachment. PVR can be treated with surgery to reattach the detached retina but the visual outcome of the surgery is very poor.[1][2]
PVR was originally referred to as massive vitreous retraction and then as massive periretinal proliferation. The name Proliferative vitreo retinopathy was provided in 1989 by the Silicone Oil Study group. The name is derived from proliferation (by the retinal pigment epithelial and glial cells) and vitreo retinopathy to include the tissues which are affected, namely the vitreous humor (or simply vitreous) and the retina.[3]
## Contents
* 1 Predisposing factors
* 2 Pathology
* 3 Retinal membranes
* 4 Cytokines involved in PVR
* 5 References
* 6 External links
## Predisposing factors[edit]
Predisposing factors for Postoperative PVR are preoperative PVR, aphakia, high levels of vitreous proteins,[4] duration of retinal detachment before corrective surgery, the size of the retinal hole or tear, intra-ocular inflammation, vitreous hemorrhage, and trauma to the eye. An equation to calculate the patient's risk for acquiring PVR is:
PVR score = 2.88 × (Grade C PVR)+ 1.85 × (Grade B PVR) + 2.92 × (aphakia) + 1.77 × (anterior uveitis) + 1.23 × (quadrants of detachment) + 0.83 × (vitreous haemorrhage) + 23 × (previous cryotherapy)
1 is added if the risk factor is present and 0 if the risk factor is absent. A patient is at a high risk for developing PVR if their PVR score is >6.33.[5]
## Pathology[edit]
During rhegmatogenous retinal detachment, fluid from the vitreous humor enters a retinal hole. The mechanisms by which retinal holes or tears form are not fully understood yet. The accumulation of fluid in the subretinal space and the tractional force of the vitreous on the retina result in rhegmatogenous retinal detachment. During this process the retinal cell layers come in contact with vitreous cytokines. These cytokines trigger the ability of the retinal pigmented epithelium (RPE) to proliferate and migrate. The process involved resembles fibrotic wound healing by the RPE cells. The RPE cells undergo epithelial-mesenchymal transition (EMT) and develop the ability to migrate out into the vitreous. During this process the RPE cell layer-neural retinal adhesion and RPE-ECM (extracellular matrix) adhesions are lost. The RPE cells lay down fibrotic membranes while they migrate and these membranes contract and pull at the retina. All these finally lead to secondary retinal detachment after primary retinal detachment surgery. A number of studies have also shown that arachidonic acid metabolic cascade (one of the major inflammatory cascades) is important in the development of PVR. COX-2 expression was found in human idiopathic epiretinal membranes.[6] Phospholipase A2 and cyclooxygenase blocking reduced structural abnormalities of the rat retina in concanavalin model of PVR[7] and reduced the frequency of membrane formation by 43% in the dispase model of PVR and by 31% in the concanavalin one. Lornoxicam not only normalized the expression of cyclooxygenases in both models of PVR, but also neutralized the changes of the retina and the choroid thickness caused by the injection of pro-inflammatory agents.[8]
PVR is graded as Grade A, B, or C by the Silicone Oil Study and as Grade A, B, C, or D by the Retina Society Terminology Committee.[9]
* Grade A is characterized by the appearance of vitreous haze and RPE cells in the vitreous.
* Grade B is characterized by wrinkling of the edges of the retinal tear or the inner retinal surface.
* Grade C is characterized by the presence of retinal membranes.
## Retinal membranes[edit]
The RPE cells migrate out into the vitreous, proliferate excessively and lay down ECM on both side sides of the detached retina. The ECM laid on the vitreous side of the retina are referred to as epiretinal or preretinal membranes (ERM) and those laid down between the RPE layer and the photoreceptors are referred to as subretinal or retroretinal membranes (SRM) . The two membranes differ in composition in that the ERM is composed of RPE cells, glial cells, macrophages and fibrocytes, while the SRM is rich in RPE cells. The subretinal membranes are of two types. One forms as diffuse sheets, which are not contractile and either lack or contain very little ECM. The presence of this type of membrane does not usually affect retinal reattachment surgery. The retina can be reattached even with the membrane in place. The other type forms as very thick contractile membranes which pull at the retina. These are opaque and block the light falling on the retina so the retinal reattachment surgery needs to be performed after manually peeling the membrane off.[10][11]
## Cytokines involved in PVR[edit]
A number of cytokines such as tumor necrosis factor alpha (TNFα), transforming growth factor beta 2 (TGFβ2), platelet derived growth factor (PDGF) and interleukins have been shown to play a role in PVR progression.
TGFβ2 levels have been shown to be elevated up to three times normal during the progression of PVR. TGFβ2 is the most predominant isoform in the eye and is secreted as a latent inactive peptide into the vitreous by epithelial cells of the ciliary body and the lens epithelium and is also produced by the RPE cells and the Muller cells of the retina. TGFβ2 is known to induce EMT in RPE cells and fibrosis in the eye.[12] Expression of PDGF in particular PDGF-AA is triggered during ocular injury and contributes to PVR pathology.[13] RPE cells express the receptor for hepatocyte growth factor (HGF). HGF stimulates RPE cell migration and its presence is also strongly detected in retinal membranes. Interleukin 6 levels are elevated in the vitreous humor during PVR.[14]
## References[edit]
1. ^ Leaver PK (1995). "Proliferative vitreoretinopathy". British Journal of Ophthalmology. 79 (10): 871–872. doi:10.1136/bjo.79.10.871. PMC 505283. PMID 7488570.
2. ^ "Proliferative Vitreoretinopathy". Retina and Vitreous of Texas. Archived from the original on 2004-05-06. Retrieved 2009-05-28.
3. ^ Ceron OM, Arroyo JG (2009). "Better Outcomes May Be Ahead for PVR". Review of Ophthalmology. 16: 1. Retrieved 2009-05-29.[permanent dead link]
4. ^ Kon CH, Asaria RH, Occleston NL, Khaw PT, Aylward GW (2000). "Risk factors for proliferative vitreoretinopathy after primary vitrectomy: a prospective study". British Journal of Ophthalmology. 84 (5): 506–511. doi:10.1136/bjo.84.5.506. PMC 1723478. PMID 10781515.
5. ^ Kon CH, Tranos P, Aylward GW (2005). "Risk Factors in Proliferative Vitreoretinopathy". In Kirchoff B, Wong D (eds.). Vitreo-retinal Surgery. Springer Berlin Heidelberg. pp. 121–134. ISBN 978-3-540-20044-4.
6. ^ Kase S; Saito W; Ohno S; Ishida S. (May 2010). "Cyclo-oxygenase-2 expression in human idiopathic epiretinal membrane". Retina. 30 (5): 719–23. doi:10.1097/IAE.0b013e3181c59698. PMID 19996819.
7. ^ Erdiakov A, Gavrilova S (August 2014). "Influence of lornoxicam and triamcinolone on the dynamics of eye remodeling in concanavalin model of inflammation". Acta Ophthalmologica. 92. doi:10.1111/j.1755-3768.2014.F077.x.
8. ^ Tikhonovich, Marina V.; Erdiakov, Aleksei K.; Gavrilova, Svetlana A. (2017-06-21). "Nonsteroid anti-inflammatory therapy suppresses the development of proliferative vitreoretinopathy more effectively than a steroid one". International Ophthalmology. 38 (4): 1365–1378. doi:10.1007/s10792-017-0594-3. ISSN 0165-5701. PMID 28639085.
9. ^ Spirn MJ, Regillo C (January 2008). "Proliferative Vitreoretinopathy". Retinal Physician. Retrieved 2009-05-29.
10. ^ Hiscott P, Grierson I (1991). "Subretinal membranes of proliferative vitreoretinopathy". British Journal of Ophthalmology. 75 (1): 53. doi:10.1136/bjo.75.1.53. PMC 504108. PMID 1991089.
11. ^ Casaroli-Marano RP, Pagan R, Vilaró S (1999). "Epithelial–Mesenchymal Transition in Proliferative Vitreoretinopathy: Intermediate Filament Protein Expression in Retinal Pigment Epithelial Cells". Investigative Ophthalmology & Visual Science. 40 (9): 2062–2072. PMID 10440262.
12. ^ Connor TB, Roberts AB, Spom MB, Danielpour D, Dart LL, Michels RG, Bustros SD, Enger C, Kato H, Lansing M, Hayashi H, Glaser BM (1989). "Correlation of Fibrosis and Transforming Growth Factor-β Type 2 Levels in the Eye". The Journal of Clinical Investigation. 83 (5): 1661–1666. doi:10.1172/JCI114065. PMC 303874. PMID 2708527.
13. ^ Andrews A, Balciunaite E, Leong FL, Tallquist M, Soriano P, Refojo M, Kazlauskas A (1999). "Platelet-derived growth factor plays a key role in proliferative vitreoretinopathy". Investigative Ophthalmology & Visual Science. 40 (11): 2683–2689. PMID 10509666.
14. ^ Kauffmann DJ, van Meurs JC, Mertens DA, Peperkamp E, Master XC, Gerritsen ME (1994). "Cytokines in Vitreous Humor: Interleukin-6 Is Elevated in Proliferative Vitreoretinopathy". Investigative Ophthalmology & Visual Science. 35 (3): 900–906. PMID 8125753.
## External links[edit]
* GeneReviews/NCBI/NIH/UW entry on VCAN-Related Vitreoretinopathy
*[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
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*[DEN]: Denmark
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*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
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*[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
|
Proliferative vitreoretinopathy
|
c0242852
| 28,321 |
wikipedia
|
https://en.wikipedia.org/wiki/Proliferative_vitreoretinopathy
| 2021-01-18T19:09:54 |
{"mesh": ["D018630"], "umls": ["C0242852"], "wikidata": ["Q7249608"]}
|
Puerperal disorder
SpecialtyObstetrics
A puerperal (or postpartum) disorder is a disease which presents primarily during the days and weeks after childbirth. The postpartum period can be divided into three distinct stages: the initial or acute phase, 6–12 hours after childbirth; subacute postpartum period, which lasts two to six weeks, and the delayed postpartum period, which can last up to six months.[1] In the subacute postpartum period, 87% to 94% of women report at least one health problem.[2][3] Long term health problems (persisting after the delayed postpartum period) are reported by 31% of women.[4]
The World Health Organization (WHO) describes the postpartum period as the most critical and yet the most neglected phase in the lives of mothers and babies; most maternal and newborn deaths occur during the postpartum period.[5]
## Contents
* 1 Physical disorders
* 1.1 Diastasis recti
* 1.2 Haemorrhage
* 1.3 Incontinence
* 1.4 Infection
* 1.5 Mastitis
* 1.6 Obstetric fistula
* 1.7 Perineal tearing
* 1.8 Peripartum cardiomyopathy
* 1.9 Postpartum thyroiditis
* 1.10 Pelvic organ prolapse
* 2 Psychological disorders
* 2.1 Postpartum depression
* 2.2 Posttraumatic stress disorder (PTSD)
* 3 See also
* 4 References
* 5 External links
## Physical disorders[edit]
### Diastasis recti[edit]
Diastasis recti is a gap between the two sides of the rectus abdominis muscle that can occur in the antenatal and postnatal periods.[6] This condition has no associated morbidity or mortality.[7] Treatment is physiotherapy.
### Haemorrhage[edit]
Main article: Postpartum bleeding
Primary postpartum haemorrhage is blood loss following childbirth of more than 500ml (minor) or 1000ml (major).[8] Secondary postpartum haemorrhage is abnormal or excessive bleeding after 24 hours and before 12 weeks postnatally.[8]
### Incontinence[edit]
Urinary incontinence and fecal incontinence have been linked to all methods of childbirth, with the incidence of urinary incontinence at six months postpartum being 3–7% and fecal incontinence 1–3%.[4]
### Infection[edit]
Postpartum infections, also known as childbed fever and puerperal fever, are any bacterial infections of the female reproductive tract following childbirth or miscarriage. Signs and symptoms usually include a fever greater than 38.0 °C (100.4 °F), chills, lower abdominal pain, and possibly bad-smelling vaginal discharge. It usually occurs after the first 24 hours and within the first ten days following delivery.
### Mastitis[edit]
Puerperal mastitis is inflammation of the breast usually associated with breastfeeding. Symptoms typically include local pain and redness.[9] There is often an associated fever and general soreness.[9] Onset is typically fairly rapid and usually occurs within the first few months of delivery.[9] Complications can include abscess formation.[10]
### Obstetric fistula[edit]
Obstetric fistula is a medical condition in which a hole develops in the birth canal as a result of childbirth, typically after a prolonged obstructed labour[11][12] and is preventable with timely access to Cesarean section. The fistula can occur between the vagina and rectum, ureter, or bladder.[12][13] It can result in incontinence of urine or feces.[12]
### Perineal tearing[edit]
Perineal tearing is the spontaneous (unintended) tearing of the skin and other soft tissue structures which, in women, separate the vagina from the anus. Perineal tearing occurs in 85% of vaginal deliveries.[14] At six months postpartum, 21% of women still report perineal pain[4] and 11–49% report sexual problems or painful intercourse.[4]
### Peripartum cardiomyopathy[edit]
Peripartum cardiomyopathy is decrease in heart function which occurs in the last month of pregnancy, or up to six months post-pregnancy. It increases the risk of congestive heart failure, heart arrhythmias, thromboembolism, and cardiac arrest.[15]
### Postpartum thyroiditis[edit]
Postpartum thyroiditis is a phenomenon observed following pregnancy[16] and may involve hyperthyroidism, hypothyroidism or the two sequentially. It affects about 5% of all women within a year after giving birth.
### Pelvic organ prolapse[edit]
Pelvic organ prolapse occurs when the uterus, bladder or rectum drop lower in the pelvis creating a bulge in the vagina. Approximately half of all women who have given birth experience some degree of pelvic organ prolapse, most frequently as they age and go through menopause.[17]
## Psychological disorders[edit]
Main article: Psychiatric disorders of childbirth
### Postpartum depression[edit]
Postpartum depression is a moderate to severe depressive episode starting anytime during pregnancy or within the four weeks following delivery. It occurs in 4–20% of pregnancies, depending on its definition.[4] Without treatment, postpartum depression can last for months or years. In addition to affecting the mother’s health, it can interfere with her ability to connect with and care for her baby and may cause the baby to have problems with sleeping, eating, and behavior as he or she grows.[18] In 38% of the cases of postpartum depression, women are still depressed three years postpartum.[19] In 0.2% of pregnancies, postpartum depression leads to postpartum psychosis.[20]
### Posttraumatic stress disorder (PTSD)[edit]
Main article: Childbirth-related posttraumatic stress disorder
Research shows that symptoms of Posttraumatic stress disorder are common following childbirth, with prevalence of 24–30.1%[21] at six weeks, dropping to 13.6% at six months.[22] PTSD is rarer; a review found that following normal childbirth (excluding stillbirth and some other complications) rates of PTSD ranged from 2.8–5.6% after six weeks, dropping to 1.5% at six months.[21]
## See also[edit]
* Postpartum physiological changes
* Postpartum confinement, a period of rest
## References[edit]
1. ^ Romano, Mattea; Cacciatore, Alessandra; Giordano, Rosalba; La Rosa, Beatrice (2010). "Postpartum period: three distinct but continuous phases". Journal of Prenatal Medicine. 4 (2): 22–25. PMC 3279173. PMID 22439056.
2. ^ Glazener, Cathryn M. A.; Abdalla, Mona; Stroud, Patricia; Templeton, Allan; Russell, Ian T.; Naji, Simon (April 1995). "Postnatal maternal morbidity: extent, causes, prevention and treatment". BJOG. 102 (4): 282–287. doi:10.1111/j.1471-0528.1995.tb09132.x. PMID 7612509. S2CID 38872754.
3. ^ Thompson, Jane F.; Roberts, Christine L.; Currie, Marian; Ellwood, David A. (June 2002). "Prevalence and Persistence of Health Problems After Childbirth: Associations with Parity and Method of Birth". Birth. 29 (2): 83–94. doi:10.1046/j.1523-536x.2002.00167.x. PMID 12051189.
4. ^ a b c d e Borders, Noelle (8 July 2006). "After the Afterbirth: A Critical Review of Postpartum Health Relative to Method of Delivery". Journal of Midwifery & Women's Health. 51 (4): 242–248. doi:10.1016/j.jmwh.2005.10.014. PMID 16814217.
5. ^ WHO. "WHO recommendations on postnatal care of the mother and newborn". WHO. Retrieved 22 December 2014.
6. ^ Benjamin, D.R.; van de Water, A.T.M.; Peiris, C.L. (March 2014). "Effects of exercise on diastasis of the rectus abdominis muscle in the antenatal and postnatal periods: a systematic review". Physiotherapy. 100 (1): 1–8. doi:10.1016/j.physio.2013.08.005. PMID 24268942.
7. ^ Norton, Jeffrey A. (2003). Essential practice of surgery: basic science and clinical evidence. Berlin: Springer. pp. 350. ISBN 978-0-387-95510-0.
8. ^ a b "Prevention and Management of Postpartum Haemorrhage: Green-top Guideline No. 52". BJOG. 124 (5): e106–e149. April 2017. doi:10.1111/1471-0528.14178. PMC 2393195. PMID 27981719.
9. ^ a b c Berens, Pamela D. (December 2015). "Breast Pain: Engorgement, Nipple Pain, and Mastitis". Clinical Obstetrics and Gynecology. 58 (4): 902–914. doi:10.1097/GRF.0000000000000153. PMID 26512442. S2CID 13006527.
10. ^ Spencer, Jeanne P. (15 September 2008). "Management of Mastitis in Breastfeeding Women". American Family Physician. 78 (6): 727–731. PMID 18819238.
11. ^ "10 facts on obstetric fistula". WHO. May 2014. Retrieved 12 December 2017.
12. ^ a b c "Obstetric fistula". UNFPA - United Nations Population Fund. 8 May 2017. Retrieved 12 December 2017.
13. ^ Setchell, Marcus E.; Hudson, C. N. (2013). Shaw's Textbook of Operative Gynaecology - E-Book. Elsevier Health Sciences. p. 370. ISBN 978-8131234815.
14. ^ McCandlish, Rona; Bowler, Ursula; Asten, Hedwig; Berridge, Georgina; Winter, Cathy; Sames, Lesley; Garcia, Jo; Renfrew, Mary; Elbourne, Diana (December 1998). "A randomised controlled trial of care of the perineum during second stage of normal labour". BJOG. 105 (12): 1262–1272. doi:10.1111/j.1471-0528.1998.tb10004.x. PMID 9883917. S2CID 23788896.
15. ^ Pearson, Gail D.; Veille, Jean-Claude; Rahimtoola, Shahbudin; Hsia, Judith; Oakley, Celia M.; Hosenpud, Jeffrey D.; Ansari, Aftab; Baughman, Kenneth L. (1 March 2000). "Peripartum Cardiomyopathy: National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of Health) Workshop Recommendations and Review". JAMA. 283 (9): 1183–8. doi:10.1001/jama.283.9.1183. PMID 10703781.
16. ^ Muller, Alex F.; Drexhage, Hemmo A.; Berghout, Arie (1 October 2001). "Postpartum Thyroiditis and Autoimmune Thyroiditis in Women of Childbearing Age: Recent Insights and Consequences for Antenatal and Postnatal Care". Endocrine Reviews. 22 (5): 605–630. doi:10.1210/edrv.22.5.0441. PMID 11588143.
17. ^ "Pelvic organ prolapse". Hysterectomy Association. Retrieved 2018-04-03.
18. ^ "Postpartum Depression Facts". National Institute of Mental Health. Retrieved May 5, 2018.
19. ^ Vliegen N.; Casalin S.; Luyten P. (2014). "The course of postpartum depression: a review of longitudinal studies". Harvard Review of Psychiatry. 22 (1): 1–22. doi:10.1097/hrp.0000000000000013. PMID 24394219. S2CID 13126272.
20. ^ Sit D.; Rothschild A. J.; Wisner K. L. (2006). "A review of postpartum psychosis". Journal of Women's Health. 15 (4): 352–368. doi:10.1089/jwh.2006.15.352. PMC 3109493. PMID 16724884.
21. ^ a b Olde, E; Vanderhart, O; Kleber, R; Vanson, M (January 2006). "Posttraumatic stress following childbirth: A review". Clinical Psychology Review. 26 (1): 1–16. doi:10.1016/j.cpr.2005.07.002. hdl:1874/16760. PMID 16176853.
22. ^ Montmasson, H.; Bertrand, P.; Perrotin, F.; El-Hage, W. (October 2012). "Facteurs prédictifs de l'état de stress post-traumatique du postpartum chez la primipare" [Predictors of postpartum post-traumatic stress disorder in primiparous mothers] (PDF). Journal de Gynécologie Obstétrique et Biologie de la Reproduction (in French). 41 (6): 553–560. doi:10.1016/j.jgyn.2012.04.010. PMID 22622194.
## External links[edit]
Classification
D
* ICD-10: O85-O92
* ICD-9-CM: 670-676
* MeSH: D011644
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
*[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
|
Puerperal disorder
|
c0851489
| 28,322 |
wikipedia
|
https://en.wikipedia.org/wiki/Puerperal_disorder
| 2021-01-18T19:01:34 |
{"mesh": ["D011644"], "umls": ["C0851489", "C0161972"], "icd-9": ["674.3", "670", "676"], "icd-10": ["O92", "O85"], "wikidata": ["Q7258523"]}
|
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. However, some people with sitosterolemia have normal cholesterol levels.
Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia may begin to appear early in life after foods containing plant sterols are introduced into the diet, although some affected individuals have no obvious symptoms.
In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death.
Some people with sitosterolemia develop small yellowish growths called xanthomas beginning in childhood. Xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems.
Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).
## Frequency
Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the prevalence may be at least 1 in 50,000 people.
## Causes
Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells.
Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. It is found mostly in cells of the intestines and liver. After plant sterols in food are taken into intestinal cells, the sterolin transporters in these cells pump them back into the intestinal tract, decreasing absorption. Sterolin transporters in liver cells pump the plant sterols into a fluid called bile that is released into the intestine. From the intestine, the plant sterols are eliminated with the feces. This process removes most of the dietary plant sterols, and allows only about 5 percent of these substances to get into the bloodstream. Sterolin also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the diet is absorbed by the body.
Mutations in the ABCG5 or ABCG8 gene that cause sitosterolemia result in a defective sterolin transporter and impair the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the arteries, skin, and other tissues, resulting in atherosclerosis, xanthomas, and the additional signs and symptoms of sitosterolemia. Excess plant sterols, such as sitosterol, in red blood cells likely make their cell membranes stiff and prone to rupture, leading to hemolytic anemia. Changes in the lipid composition of the membranes of red blood cells and platelets may account for the other blood abnormalities that sometimes occur in sitosterolemia.
### Learn more about the genes associated with Sitosterolemia
* ABCG5
* ABCG8
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Sitosterolemia
|
c0342907
| 28,323 |
medlineplus
|
https://medlineplus.gov/genetics/condition/sitosterolemia/
| 2021-01-27T08:25:34 |
{"gard": ["7653"], "mesh": ["C537345"], "omim": ["210250"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive epidermolysis bullosa simplex-1 (EBSB1) is caused by homozygous or compound heterozygous mutation in either the KRT14 (148066) or the KRT5 (148066) gene.
Description
Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., 131800, 131760, and 131900), but autosomal recessive inheritance has been described (Fine et al., 2008).
Clinical Features
Fine et al. (1989) reported a kindred in which 4 individuals had localized EBS (see 131800), previously known as the Weber-Cockayne type, inherited in an autosomal recessive pattern. Except for scattered oral erosions in 1 patient, there was no evidence of associated extracutaneous disease. The authors noted the implications for genetic counseling.
Hovnanian et al. (1993) reported a consanguineous French family in which 2 sibs had a recessive form of localized EBS. Both had recurrent, painful blistering affecting the lateral, dorsal, and plantar aspects of the feet after walking or minor trauma. Blistering occurred occasionally on the legs and thighs after horseback riding, but the palms and rest of the body were spared. Onset was in early childhood. Focal erythematous and slightly atrophic scars were present on the feet. Hair, nails, teeth, and oral mucosa were normal, and there were no milia. There was no hyperkeratosis of the palms or soles. The disorder did not appear to get better with age, and there was disease exacerbation in the summer. Electron microscopic examination of the skin showed cleavage within basal keratinocytes and no clumping of tonofilaments. The parents were unaffected.
Rugg et al. (1994) reported a child with severe generalized epidermal blistering beginning 3 days after birth. Blistering occurred virtually anywhere on the body, including arms, legs, trunk, face, scalp, and oral mucosa. There was no thickening of the palms or soles on examination at age 5 years. The front teeth were discolored and notched, but not pitted, and the fingernails were ridged and of uneven thickness. The tendency to blister had diminished with age. There was no KRT14 expression in the skin, and no intermediate filaments were seen in the basal cells of the epidermis. Neither of the parents, who were related, were affected.
Stephens et al. (1995) reported a large family in which generalized EBS of the Koebner type was caused by a heterozygous mutation in the KRT5 gene (K173N; 148040.0006). Due to consanguinity in 1 branch of the family, an affected individual was homozygous for the mutation. However, the phenotype and the ultrastructural findings in this patient were not more severe than those observed in heterozygotes. Stephens et al. (1995) suggested that while the presence of some abnormal KRT5 or KRT14 molecules underlies dominant EBS, the lack of all KRT5 or KRT14 molecules, be they normal or abnormal, appears to underlie recessive EBS. However, homozygous null KRT5 mutations have not been reported in humans to date.
Hu et al. (1997) reported a French-Portuguese family with localized EBS (131800) due to a heterozygous mutation in the KRT14 gene (M119I; 148066.0010). Blistering began around 1 year of age and was limited to the hands and feet. There was disease exacerbation in the summer, and the disorder tended to decrease with age. One family member, born of a consanguineous union, was homozygous for the mutation, consistent with autosomal recessive inheritance. This patient had a more severe phenotype, with earlier onset, more generalized blistering, and involvement of the oral, vaginal, and anal mucosa. Since age 14, blistering has been limited to the hands and feet. The distal skin was scarred, all 10 toenails were missing, and small areas of palmar hyperkeratosis were present. Hu et al. (1997) concluded that this mutation acts as a 'partial dominant' in that heterozygotes have milder localized disease and homozygotes have a more severe disease.
Yasukawa et al. (2002) reported an unusual Japanese family with both autosomal recessive and dominant inheritance of KRT5 mutations resulting in phenotypic variability. The proband was a man with classic generalized EBS, manifest as blistering of the trunk and extremities, improvement with age, and cytolysis within basal keratinocytes on biopsy. Genetic analysis identified compound heterozygosity for the E170K (148040.0020) and E418K (148040.0021) mutations in the KRT5 gene. His paternal uncle, who had blisters restricted to the palms and soles consistent with localized EBS, was heterozygous for the E170K mutation. The proband's deceased father and paternal grandmother, who were putatively heterozygous for the E170K mutation, also reportedly had localized blistering of the hands and feet. In contrast, 2 unaffected family members were heterozygous for the E418K substitution, implying that it is not pathogenic in isolation. In vitro functional expression studies showed that cells transfected with either mutation developed small ball-like filament aggregates, indicating a disruption of the keratin network, although the effect was more pronounced for the E170K mutation. Expression of both mutant proteins exacerbated the clumping and resulted in significantly more disruption than either alone. These findings were consistent with the marked phenotypic and genotypic variability observed in this family.
Molecular Genetics
In 2 French sibs, born of consanguineous parents, with autosomal recessive EBS, Hovnanian et al. (1993) identified a homozygous mutation in the KRT14 gene (E144A; 148066.0004). The authors predicted that this change in amino acid size, shape, and hydrophobicity would interfere with K14-K5 heterodimer production essential to keratin formation.
In a patient with severe recessive EBS, Chan et al. (1994) identified a homozygous mutation in the KRT14 gene (Y204X; 148066.0006). Each of the unaffected parents, who were related, were heterozygous for the mutation. Skin biopsy of the patient showed lack of a discernible keratin filament network in basal epidermal cells.
In a patient with severe recessive EBS, Rugg et al. (1994) identified a homozygous 2-bp deletion in the KRT14 gene (148066.0017).
INHERITANCE \- Autosomal recessive HEAD & NECK Mouth \- Oral blistering SKIN, NAILS, & HAIR Skin \- Epidermolysis bullosa simplex \- Blistering, recurrent \- Blistering may be generalized or localized \- Cleavage within basal keratinocytes \- Atrophic scarring (less common) Nails \- Ridged nails \- Thickened nails MISCELLANEOUS \- Onset at birth or early childhood \- Variable severity \- Heterozygotes are not affected \- Blistering tends to improve with age \- Disease exacerbation during summer due to heat MOLECULAR BASIS \- Caused by mutation in the keratin-14 gene (KRT14, 148066.0004 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
|
c3715082
| 28,324 |
omim
|
https://www.omim.org/entry/601001
| 2019-09-22T16:15:32 |
{"doid": ["4644"], "omim": ["601001"], "orphanet": ["89838"], "synonyms": ["EBS, autosomal recessive K14", "EBS-AR KRT14", "KRT14-related autosomal recessive EBS", "KRT14-related autosomal recessive epidermolysis bullosa simplex"], "genereviews": ["NBK1369"]}
|
A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.
## Epidemiology
Pendred syndrome (PDS) is one of the most frequent forms of syndromic genetic deafness. Although precise prevalence is unknown, PDS may account for up to 7.5% of cases of congenital hearing loss.
## Clinical description
Considerable phenotypic variability is found even within families. The main presenting clinical sign is prelingual sensorineural deafness, although occasionally the hearing loss develops later in childhood. The degree of hearing loss is variable: it can be mild-to-moderate and progressive in some patients, and severe-to-profound in others. Fluctuations in hearing are also common and may be associated with or preceded by vertigo. The onset and presentation of euthyroid goiter (75%) is highly variable within and between families, with thyroid enlargement usually developing in late childhood or early adulthood. The thyromegaly reflects a defect in iodide transport from the thyrocyte to the colloid, although organification itself is not impaired. Hypothyroidism may develop if nutritional iodide intake is low. Genetic deafness at the DFNB4 locus is part of the phenotypic spectrum that includes PDS at one extreme and autosomal recessive non-syndromic sensorineural deafness type DFNB4 at the other. In patients with the latter disease, thyroid function is normal.
## Etiology
Biallelic or double heterozygous genetic mutations are identified in about half of patients: biallelic mutations in SLC26A4 (7q31), or double heterozygous mutations in SLC26A4 and FOXI1 (5q34), or in SLC26A4and KCNJ10 (1q23.2). Nearly all mutations identified in SLC26A4 are biallelic and affect the encoded protein, pendrin, a 780-amino acid multifunctional anion exchanger. Less than 1% of affected persons present with double heterozygous mutations.
## Diagnostic methods
The diagnosis of PDS is based on the presence of hearing impairment, temporal bone anomalies of the inner ear, and an abnormal perchlorate discharge test (if available) or goiter. The anomalies can be diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI), although the former provides better resolution of bony changes. Diagnosis is confirmed by molecular genetic testing which is available clinically.
## Differential diagnosis
The differential diagnosis includes congenital cytomegaloviral infection (cCMV), BOR syndrome, and deafness at the DFNX2 locus (POU3F4).
## Antenatal diagnosis
Prenatal testing for at-risk pregnancies is possible when mutations in a family are known.
## Genetic counseling
PDS follows an autosomal recessive pattern of inheritance. Genetic counseling should be provided to affected families.
## Management and treatment
Management includes annual audiograms with suitable amplification (hearing aids) as soon as hearing impairment is diagnosed. Patients with severe-to-profound hearing loss should be evaluated for cochlear implantation, and when appropriate, specific educational programs for the hearing impaired should be considered. Abnormal thyroid function should be treated with standard therapy.
## Prognosis
Patients with PDS may have progressive hearing loss, although it is not yet possible to identify these patients in advance. As a general rule, however, progression of hearing loss is more common in patients with more severe inner ear anomalies.
*[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
|
Pendred syndrome
|
c0271829
| 28,325 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=705
| 2021-01-23T18:10:43 |
{"gard": ["4271"], "mesh": ["C536648"], "omim": ["274600"], "umls": ["C0271829"], "icd-10": ["E07.1"], "synonyms": ["Goiter-deafness syndrome", "Goiter-hearing loss syndrome"]}
|
Muenke syndrome
Other namesFGFR3-related craniosynostosis
SpecialtyMedical genetics
Muenke syndrome, also known as FGFR3-related craniosynostosis,[1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.
## Contents
* 1 Signs and symptoms
* 1.1 Other Implications of Muenke Syndrome
* 2 Causes
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Signs and symptoms[edit]
Many people with this disorder have a premature fusion of skull bones along the coronal suture. Not every case has had craniosynostosis however. Other parts of the skull may be malformed as well. This will usually cause an abnormally shaped head, wide-set eyes, low set ears and flattened cheekbones in these patients. About 5 percent of affected individuals have an enlarged head (macrocephaly). There may also be associated hearing loss in 10-33% of cases and it is important for affected individuals to have hearing tests to check on the possibility of a problem. They can lose about 33-100% of hearing.[citation needed]
Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible. The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.
### Other Implications of Muenke Syndrome[edit]
Apart from craniosynostosis, it has been suggested that hearing loss, and learning difficulties are common in Muenke syndrome. According to Ulster Medical Journal, most individuals with Muenke syndrome may have limb findings. The most common ocular finding in Muenke syndrome is strabismus as studied by Dr. Agochukwu-Nwubah and her researching team. Approximately 20% of Muenke Syndrome sufferers will also be affected by epilepsy.
## Causes[edit]
Muenke syndrome is caused by a specific gene mutation in the FGFR3 gene. The mutation arises randomly; there is no full understanding for what causes this mutation. This mutation causes the FGFR3 protein to be overly active; it interferes with normal bone growth, and allows skull bones to fuse prematurely. There is no connection between anything mother did (or did not do) to activate the syndrome. If neither of the parents have Muenke syndrome, chances of having another child with the syndrome are minimal. This condition is inherited in an autosomal dominant pattern. This means if a parent has Muenke syndrome, every newborn has a 50% chance of inheriting the syndrome.[citation needed]
## Genetics[edit]
Muenke Syndrome is inherited in an autosomal dominant pattern.
Muenke syndrome is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. If a patient is shown to have Muenke, they have a 50/50 chance of passing it on to their children. Not all cases of Muenke however is obvious. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
A single mutation in the FGFR3 gene cause this syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. This mutation causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.
As stated by researchers at the University of Washington, Muenke syndrome is inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity.” Prenatal diagnosis for pregnancies at increased risk is possible if the defining mutation has been identified in the family (Agochukwu et.al. 2006). According to the article Craniosynostosis: Molecular Genetics, penetrance is higher in females (87%) than in males (76%). Muenke syndrome is estimated to account for 25%-30% of all genetic causes of craniosynostosis according to the Journal of Anatomy.
## Diagnosis[edit]
The diagnosis of Muenke syndrome is suspected bases on abnormal skull shape and a diagnosis of coronal craniosynostosis. In 2006, Agochukwu and her colleagues concluded that “A distinct Muenke syndrome phenotype includes: uni or bilateral coronal synostosis, midface hypoplasia, broad toes, and brachydactyly.” Due to phenotypic overlap and/or mild phenotypes, clinical differentiation of this syndrome may be difficult. The suspected diagnosis is confirmed by a blood test to check for gene mutation. To establish the extent of disease in an individual diagnosed with Muenke syndrome, various evaluations are recommended.
## Treatment[edit]
The treatment of Muenke syndrome is focused on the correction of the abnormal skull shape and mirrors the treatment of coronal craniosynostosis. The abnormal growth patterns continue throughout the growing years; therefore, intervention, accurate diagnosis, and a customized, expertly carried-out treatment plan should be a primary concern. Although the timing of surgery can be highly individualized, surgical correction of the bicoronal craniosynostosis is most often done between 6 and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair of the head. Your craniofacial surgeon will work in concert with a pediatric neurosurgeon in order to safely remove the bones of the skull. Then, the craniofacial surgeon reshapes and repositions those bones to give a more normal skull shape.
## References[edit]
1. ^ Clinical trial number NCT00106977 for "Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)" at ClinicalTrials.gov
* Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO (August 2004). "Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis". Hum. Genet. 115 (3): 200–7. doi:10.1007/s00439-004-1151-5. PMID 15241680. S2CID 24791706.
* Agochukwu NB, Doherty ES, Muenke M (December 7, 2010). "Muenke Syndrome". Gene Reviews. PMID 20301588.
* Hughes J, Nevin NC, Morrison PJ (2001). "Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene". Ulster Med J. 70 (70): 47–50. PMC 2449219. PMID 11428324.
* Morris-Kay GM, Wilkie AO (2005). "Growth of the normal skull vault and its alteration in craniosynostosis: Insights from human genetics and experimental studies". Journal of Anatomy. 207 (5): 637–653. doi:10.1111/j.1469-7580.2005.00475.x. PMC 1571561. PMID 16313397.
* Solomon BD, Muenke M (2010). "Craniosynostosis: Molecular Genetics". Principles of Diagnosis and Treatment. 19: 89–97.
## External links[edit]
* National Institute of Health's Reference
* GeneReview/NIH/UW entry on Muenke Syndrome
Classification
D
* ICD-10: Q75.0
* OMIM: 602849
* MeSH: C537369
* DiseasesDB: 33585
External resources
* GeneReviews: Muenke Syndrome
* Orphanet: 53271
* 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
|
Muenke syndrome
|
c1864436
| 28,326 |
wikipedia
|
https://en.wikipedia.org/wiki/Muenke_syndrome
| 2021-01-18T18:55:36 |
{"gard": ["7097"], "mesh": ["C537369"], "umls": ["C1864436"], "orphanet": ["53271"], "wikidata": ["Q3508679"]}
|
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autosomal dominant spastic paraplegia type 9A
|
c1832669
| 28,327 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=447753
| 2021-01-23T18:43:35 |
{"mesh": ["C536868"], "omim": ["601162"], "icd-10": ["G11.4"], "synonyms": ["AD-SPG9A", "Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome", "Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"]}
|
## Description
The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010).
Clinical Features
Gorlin and Langer (1978) analyzed cases of a form of lethal neonatal chondrodystrophy which they called dyssegmental dwarfism, or lethal anisospondylic camptomicromelic dwarfism. Affected infants are stillborn or live only a few months. Narrow chest and reduced joint mobility are constant features. Cleft palate, hydronephrosis, and hydrocephalus have been observed. In 2 cases thought to have this condition, different histology was found (Gorlin and Langer, 1978). The entity reported by Rolland et al. (1972) was probably the same as that in the case reported by Dinno et al. (1976) and in the 3 cases reported by Langer et al. (1976).
Aleck et al. (1987) presented further evidence for the existence of at least 2 forms of dyssegmental dysplasia, both autosomal recessive, which can be delineated on clinical, radiographic, and morphologic grounds. A lethal form, the Silverman-Handmaker type, is characterized by stillbirth or neonatal death and by distinct and more severe radiographic changes. In the less severe, Rolland-Desbuquois form, survival beyond the newborn period is frequent and the radiographic changes resemble Kniest dysplasia (156550).
Svejcar (1983) quoted R. J. Gorlin (Minneapolis) as suggesting that dyssegmental dwarfism was present in a case included in one of the first applications of roentgenology to the diagnosis of congenital malformations (Simmonds, 1900). Svejcar (1983) found abnormal gel electrophoretic patterns of collagen peptides, pointing to a deficiency in alpha-1 chains. This deficiency may be responsible for increased crosslinking and the observed alterations in extractability of collagen. Svejcar (1983) observed 2 cases, 1 in the offspring of presumably unrelated Jordanian-Palestinians and 1 in the offspring of unrelated Turkish parents. Hypertrichosis was found in both cases. The limbs were short and bent with reduced mobility.
Maroteaux et al. (1996) described 2 patients with a disorder related to but probably distinct from dyssegmental dysplasia. Skeletal manifestations included severe micromelia, dolichocephaly, flat face, and cleft palate. The hands appeared normal. X-rays revealed short, broad long bones with flared metaphyses, delayed epiphyseal ossification, and flat vertebral bodies. Coronal lumbar cleft was also observed. Mutations of COL2A1 were sought, but none was found. Distinguishing the phenotype from dyssegmental dysplasia was a severe glaucoma resulting in exophthalmos and corneal opacities.
Prabhu et al. (1998) reported the case of a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia most compatible with the Silverman-Handmaker type. Unusual was survival of the infant for more than 8 months. He had ocular and central nervous system abnormalities that had not been described previously. His clinical course included significant feeding and respiratory difficulties, severe physical and psychomotor retardation, and recurrent fever possibly of central origin. The parents were first cousins of Druze-Lebanese origin, supporting an autosomal recessive mode of inheritance.
Inheritance
Gorlin and Langer (1978) stated that affected sibs and parental consanguinity support autosomal recessive inheritance of dyssegmental dwarfism.
INHERITANCE \- Autosomal recessive GROWTH Height \- Dwarfism, neonatal short-limbed HEAD & NECK Face \- Round face \- Flat face \- Micrognathia \- Midface hypoplasia Eyes \- Shallow orbits \- Glaucoma \- Dislocated lens Mouth \- Cleft palate Neck \- Short neck CHEST External Features \- Narrow chest Ribs Sternum Clavicles & Scapulae \- Short, flared ribs SKELETAL \- Decreased joint mobility Spine \- Variable vertebral body size \- Prominent coronal clefting \- Sagittal clefting Pelvis \- Wide flared ilia \- Small sacrosciatic notches Limbs \- Short, broad, bowed long bones \- Metaphyseal widening \- Microcamptomelia (camptomicromelia) \- Dumbbell femurs Hands \- Accelerated carpal bone maturation \- Adducted thumbs \- Camptodactyly \- Short, broad tubular bones Feet \- Equinovarus deformity \- Short, broad tubular bones SKIN, NAILS, & HAIR Hair \- Hirsutism NEUROLOGIC Central Nervous System \- Encephalocele (single case) \- Hydrocephalus MISCELLANEOUS \- Lethal in 40% of patients \- See also dyssegmental dysplasia, Silverman-Handmaker type ( 224410 ) ▲ 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
|
DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE
|
c0432209
| 28,328 |
omim
|
https://www.omim.org/entry/224400
| 2019-09-22T16:28:28 |
{"mesh": ["C537999"], "omim": ["224400"], "orphanet": ["156731"], "synonyms": ["Alternative titles", "DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE", "ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE"]}
|
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life 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
|
BENTA disease
|
c4551967
| 28,329 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464336
| 2021-01-23T19:07:26 |
{"omim": ["616452"], "synonyms": ["B-cell expansion with NF-kB and T-cell anergy disease"]}
|
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-7 (CSS7) is caused by heterozygous mutation in the DPF2 gene (601671) on chromosome 11q13.
Description
Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Clinical Features
Vasileiou et al. (2018) reported 8 unrelated patients with a neurodevelopmental disorder consistent with CSS. The patients, who ranged in age from 3 to 18 years, were ascertained from several collaborative groups. All patients had global developmental delay with borderline, mild, or moderate intellectual disability, delayed speech, mildly delayed walking between 17 and 24 months, and hypoplasia of the fifth toenail. Some individuals had other distal skeletal anomalies, including hypoplasia of other toenails and/or fingernails, brachydactyly, and clinodactyly of the fifth finger. Most patients had coarse facial features and dysmorphic features, including sparse scalp hair, downslanting palpebral fissures, hypertelorism, thick or small alae nasi, short or broad philtrum, large, prominent, low-set and/or posteriorly rotated ears, prominent forehead, broad nose with flat nasal bridge, wide mouth, thin upper lip, thick lower vermilion, thick eyebrows, and delayed dentition or microdontia. Additional more variable features included feeding difficulties in infancy, poor overall growth, hypotonia, hearing impairment, behavioral abnormalities, constipation, recurrent otitis media, hypermetropia, and strabismus. Four patients had congenital heart defects, including septal defects, valvular abnormalities, and persistent foramen ovale. Two patients had sagittal craniosynostosis and 1 had trigonocephaly. Brain imaging performed in 3 patients showed variable mild abnormalities, including right cerebellar hemisphere atrophy, small pituitary gland, and Chiari malformation I, respectively, but none of the patients had abnormalities of the corpus callosum.
Molecular Genetics
In 8 unrelated patients with CSS7, Vasileiou et al. (2018) identified 8 different de novo heterozygous mutations in the DPF2 gene (see, e.g., 601671.0001-601671.0005). There were 5 missense mutations, 2 splice site mutations, and 1 frameshift mutation. The missense mutations affected highly conserved residues in the PHD1 or PHD2 finger domains, which are responsible for the recognition of histone modifications. The mutations were close to zinc binding sites, most likely disrupting these sites and the protein structure. In vitro functional expression studies of 3 of the missense mutations (C276F, 601671.0001; C330W, 601671.0002; and R350H, 601671.0003) showed that they resulted in abolished or strongly attenuated binding to certain modified and unmodified H3 histone tails. In addition, expression of the mutations in HEK293 and COS-7 cells resulted in the formation of abnormal aggregate-like structures in the nucleus when expressed alone, and recruited wildtype DPF2 and BRG1 (603254) to the aggregates with coexpressed with those wildtype proteins. Theses findings were consistent with a dominant-negative pathomechanism. Analysis of the 2 splice site mutations and the frameshift mutation suggested that they escape nonsense-mediated mRNA decay, thus precluding haploinsufficiency and also supporting a dominant-negative mechanism. The patients were ascertained from large cohorts of patients with developmental disabilities and through web-based matching programs and collaboration. Six of the patients had additional rare single-nucleotide variants or copy number variants affecting other genes, which were not considered to affect the phenotype. Vasileiou et al. (2018) suggested that the mutations in nucleosome-targeting modules of the DPF2 gene disrupt PHD finger functional cohesion and capacity to recognize H3 histone modifications, leading to misreading from the BAF complex and epigenetic deregulation of gene transcription. The findings confirmed a crucial role of PHD-finger-containing proteins in human neurodevelopmental disorders.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Poor overall growth HEAD & NECK Face \- Coarse facial features \- Prominent forehead \- Short philtrum \- Broad philtrum Ears \- Low-set ears \- Large ears \- Posteriorly rotated ears \- Otitis media, recurrent \- Hearing impairment Eyes \- Downslanting palpebral fissures \- Hypertelorism \- Strabismus \- Hypermetropia \- Thick eyebrows Nose \- Depressed nasal bridge \- Thick alae nasi \- Small alae nasi Mouth \- Thin upper lip \- Thick lower vermilion \- Wide mouth Teeth \- Delayed dentition \- Microdontia CARDIOVASCULAR Heart \- Congenital heart defects (in some patients) \- Septal defects \- Valvular abnormalities \- Persistent foramen ovale ABDOMEN Gastrointestinal \- Poor feeding \- Constipation SKELETAL Skull \- Sagittal craniosynostosis (uncommon) \- Trigonocephaly (uncommon) Hands \- Brachydactyly \- Clinodactyly (fifth finger) SKIN, NAILS, & HAIR Nails \- Hypoplastic fifth toenail \- Hypoplastic finger and toenails Hair \- Sparse scalp hair MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Intellectual disability, mild to moderate \- Delayed speech \- Delayed walking (around 2 years of age) Behavioral Psychiatric Manifestations \- Hyperactivity \- Temper tantrums \- Stereotypic movements \- Obsessive compulsive behavior MISCELLANEOUS \- Variable phenotype \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the D4, zinc, and double PHD fingers family, member 2 gene (DPF2, 601671.0001 ) ▲ 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
|
COFFIN-SIRIS SYNDROME 7
|
c0265338
| 28,330 |
omim
|
https://www.omim.org/entry/618027
| 2019-09-22T15:43:53 |
{"mesh": ["C536436"], "omim": ["618027"], "orphanet": ["1465"]}
|
Keratoderma blennorrhagicum
The rash on the bottom of this individual’s feet, known as keratoderma blennorrhagicum, was due to reactive arthritis
SpecialtyDermatology
Keratoderma blennorrhagicum etymologically meaning keratinized (kerato-) skin (derma-) mucousy (blenno-) discharge (-rrhagia) (also called keratoderma blennorrhagica)[1] are skin lesions commonly found on the palms and soles but which may spread to the scrotum, scalp and trunk. The lesions may resemble psoriasis.[2]:195
Keratoderma blennorrhagicum is commonly seen as an additional feature of reactive arthritis in almost 15% of male patients. The appearance is usually of a vesico-pustular waxy lesion with a yellow brown colour. These lesions may join together to form larger crusty plaques with desquamating edges.
## See also[edit]
* Keratoderma
* Keratosis
* Blennorrhea
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 124. ISBN 978-1-4160-2999-1.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-9-CM: 701.1
* MeSH: D007642
* DiseasesDB: 21855
* v
* t
* e
Cutaneous keratosis, ulcer, atrophy, and necrobiosis
Epidermal thickening
* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum
* keratosis: Seborrheic keratosis
* Clonal seborrheic keratosis
* Common seborrheic keratosis
* Irritated seborrheic keratosis
* Seborrheic keratosis with squamous atypia
* Reticulated seborrheic keratosis
* Dermatosis papulosa nigra
* Keratosis punctata of the palmar creases
* other hyperkeratosis: Acanthosis nigricans
* Confluent and reticulated papillomatosis
* Callus
* Ichthyosis acquisita
* Arsenical keratosis
* Chronic scar keratosis
* Hyperkeratosis lenticularis perstans
* Hydrocarbon keratosis
* Hyperkeratosis of the nipple and areola
* Inverted follicular keratosis
* Lichenoid keratosis
* Multiple minute digitate hyperkeratosis
* PUVA keratosis
* Reactional keratosis
* Stucco keratosis
* Thermal keratosis
* Viral keratosis
* Warty dyskeratoma
* Waxy keratosis of childhood
* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata
Necrobiosis/granuloma
Necrobiotic/palisading
* Granuloma annulare
* Perforating
* Generalized
* Subcutaneous
* Granuloma annulare in HIV disease
* Localized granuloma annulare
* Patch-type granuloma annulare
* Necrobiosis lipoidica
* Annular elastolytic giant-cell granuloma
* Granuloma multiforme
* Necrobiotic xanthogranuloma
* Palisaded neutrophilic and granulomatous dermatitis
* Rheumatoid nodulosis
* Interstitial granulomatous dermatitis/Interstitial granulomatous drug reaction
Foreign body granuloma
* Beryllium granuloma
* Mercury granuloma
* Silica granuloma
* Silicone granuloma
* Zirconium granuloma
* Soot tattoo
* Tattoo
* Carbon stain
Other/ungrouped
* eosinophilic dermatosis
* Granuloma faciale
Dermis/
localized CTD
Cutaneous lupus
erythematosus
* chronic: Discoid
* Panniculitis
* subacute: Neonatal
* ungrouped: Chilblain
* Lupus erythematosus–lichen planus overlap syndrome
* Tumid
* Verrucous
* Rowell's syndrome
Scleroderma/
Morphea
* Localized scleroderma
* Localized morphea
* Morphea–lichen sclerosus et atrophicus overlap
* Generalized morphea
* Atrophoderma of Pasini and Pierini
* Pansclerotic morphea
* Morphea profunda
* Linear scleroderma
Atrophic/
atrophoderma
* Lichen sclerosus
* Anetoderma
* Schweninger–Buzzi anetoderma
* Jadassohn–Pellizzari anetoderma
* Atrophoderma of Pasini and Pierini
* Acrodermatitis chronica atrophicans
* Semicircular lipoatrophy
* Follicular atrophoderma
* Linear atrophoderma of Moulin
Perforating
* Kyrle disease
* Reactive perforating collagenosis
* Elastosis perforans serpiginosa
* Perforating folliculitis
* Acquired perforating dermatosis
Skin ulcer
* Pyoderma gangrenosum
Other
* Calcinosis cutis
* Sclerodactyly
* Poikiloderma vasculare atrophicans
* Ainhum/Pseudo-ainhum
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
|
Keratoderma blennorrhagicum
|
c0022594
| 28,331 |
wikipedia
|
https://en.wikipedia.org/wiki/Keratoderma_blennorrhagicum
| 2021-01-18T19:05:24 |
{"mesh": ["D007642"], "icd-9": ["701.1"], "wikidata": ["Q12202899"]}
|
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.
The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
## Frequency
Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.
## Causes
Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.
### Learn more about the gene associated with Neurofibromatosis type 2
* NF2
## Inheritance Pattern
Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family.
Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 gene must be altered to trigger tumor formation in neurofibromatosis type 2. A mutation in the second copy of the NF2 gene occurs in Schwann cells or other cells in the nervous system during a person's lifetime. Almost everyone who is born with one NF2 mutation acquires a second mutation (known as a somatic mutation) in these cells and develops the tumors characteristic of neurofibromatosis type 2.
*[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
|
Neurofibromatosis type 2
|
c0027832
| 28,332 |
medlineplus
|
https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/
| 2021-01-27T08:25:49 |
{"gard": ["7193"], "mesh": ["D016518"], "omim": ["101000"], "synonyms": []}
|
Gestational choriocarcinoma is a malignant trophoblastic tumour arising from any gestational event during pregnancy in the reproductive female. Women with gestational choriocarcinoma may present with abnormal vaginal bleeding, persistent markedly elevated βhCG, or a history of prior pregnancy. Most patients develop gestational choriocarcinoma shortly after gestational anomalies, but pathology may occur after a long latency of years. It may occur during pregnancy. Often, it happens after a growth of some sort in the womb (pregnancy, tumor, mole, cyst)[1]
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 Prognosis
* 4 References
## Diagnosis[edit]
Grossly, a red hemorrhagic mass is seen in the uterus, though it may vary in size. Often, diagnosis is presumptive, and based on clinical findings and the identification of a malignant trophoblast. One prevalent symptom is vaginal bleeding after a pregnancy, abortion, or hydatid mole.[2] A pregnancy test will be positive even if there is no embryo/fetus.[3]
## Treatment[edit]
Chemotherapy is the treatment of choice. In certain cases, a hysterectomy and radiation are necessary.[4]
## Prognosis[edit]
At the time of diagnosis, more than 90% of patients already have lung metastases, though there are also less frequent metastases to the brain and liver. With chemotherapy, there is an 80% 5-year survival rate. Ultimately, death is related to liver and brain metastases.
## References[edit]
1. ^ NIH. "Choriocarcinoma". Retrieved 10 August 2012.
2. ^ NIH. "Choriocarcinoma". Retrieved 10 August 2012.
3. ^ NIH. "Choriocarcinoma". Retrieved 10 August 2012.
4. ^ NIH. "Choriocarcinoma". Retrieved 10 August 2012.
* 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
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
|
Gestational choriocarcinoma
|
c0349557
| 28,333 |
wikipedia
|
https://en.wikipedia.org/wiki/Gestational_choriocarcinoma
| 2021-01-18T18:38:51 |
{"umls": ["C0349557"], "orphanet": ["99926"], "wikidata": ["Q5553676"]}
|
Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. In more severe cases, symptoms may include difficulty breathing with the chest pulling inward (retraction), poor weight gain from difficulty feeding, apnea, and cyanosis. The underlying cause of the condition is unknown. Most cases occur sporadically in people with no family history of the condition. In 90% of affected infants, laryngomalacia will resolve on its own by the time an infant is 18 to 20 months old. However, severe cases may require immediate medical treatment such as medication 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
|
Laryngomalacia
|
c0345160
| 28,334 |
gard
|
https://rarediseases.info.nih.gov/diseases/6865/laryngomalacia
| 2021-01-18T17:59:31 |
{"omim": ["150280"], "orphanet": ["2373"], "synonyms": ["Laryngomalacia congenital", "Congenital laryngomalacia", "Congenital laryngeal stridor"]}
|
Epidemic of a flu that spreads on a worldwide scale and infects a large proportion of the human population
Influenza (Flu)
Types
* Avian
* A/H5N1 subtype
* Canine
* Equine
* Swine
* A/H1N1 subtype
Vaccines
* 2009 pandemic
* Pandemrix
* Live attenuated
* Seasonal flu vaccine brands
Treatment
* Amantadine
* Baloxavir marboxil
* Laninamivir
* Oseltamivir
* Peramivir
* Rimantadine
* Umifenovir
* Zanamivir
Pandemics
* 1918 Spanish flu
* 1957 Asian flu
* 1968–1969 Hong Kong flu
* 2009 swine flu
Outbreaks
* 1976 swine flu
* 2006 H5N1 India
* 2007 Australian equine
* 2007 Bernard Matthews H5N1
* 2008 West Bengal
* 2015 United States H5N2 outbreak
See also
* Flu season
* Influenza evolution
* Influenza research
* Influenza-like illness
* Vaccine reformulations
* v
* t
* e
Influenza ward at Walter Reed Hospital, in Washington, D.C. during the 1918 flu pandemic.
An influenza pandemic is an epidemic of an influenza virus that spreads across a large region (either multiple continents or worldwide) and infects a large proportion of the population. There have been five in the last 140 years, with the 1918 flu pandemic being the most severe; this pandemic is estimated to have been responsible for the deaths of 50–100 million people. The most recent, the 2009 swine flu pandemic, resulted in under a million deaths and is considered relatively mild. These pandemics occur irregularly.
Influenza pandemics occur when a new strain of the influenza virus is transmitted to humans from another animal species. Species that are thought to be important in the emergence of new human strains are pigs, chickens and ducks. These novel strains are unaffected by any immunity people may have to older strains of human influenza and can therefore spread extremely rapidly and infect very large numbers of people. Influenza A viruses can occasionally be transmitted from wild birds to other species, causing outbreaks in domestic poultry, and may give rise to human influenza pandemics.[1][2] The propagation of influenza viruses throughout the world is thought in part to be by bird migrations, though commercial shipments of live bird products might also be implicated, as well as human travel patterns.
The World Health Organization (WHO) has produced a six-stage classification that describes the process by which a novel influenza virus moves from the first few infections in humans through to a pandemic. This starts with the virus mostly infecting animals, with a few cases where animals infect people, then moves through the stage where the virus begins to spread directly between people, and ends with a pandemic when infections from the new virus have spread worldwide.[3]
One strain of virus that may produce a pandemic in the future is a highly pathogenic variation of the H5N1 subtype of influenza A virus. On 11 June 2009, a new strain of H1N1 influenza was declared to be a pandemic (Stage 6) by the WHO after evidence of spreading in the southern hemisphere.[4] The 13 November 2009 worldwide update by the WHO stated that "[a]s of 8 November 2009, worldwide more than 206 countries and overseas territories or communities have reported [503,536] laboratory confirmed cases of pandemic influenza H1N1 2009, including over 6,250 deaths."[5]
## Contents
* 1 Influenza
* 2 Variants and subtypes of Influenzavirus A
* 3 Nature of a flu pandemic
* 3.1 Wave nature
* 3.2 Variable mortality
* 4 Influenza pandemics
* 4.1 Spanish flu (1918–1920)
* 4.2 Asian flu (1957–1958)
* 4.3 Hong Kong flu (1968–1969)
* 4.4 H1N1/09 flu pandemic (2009–2010)
* 5 Other pandemic threat subtypes
* 6 Assessment of a flu pandemic
* 6.1 Stages
* 6.2 Severity
* 7 Management of a flu pandemic
* 7.1 Strategies to prevent a flu pandemic
* 7.2 Strategies to slow down a flu pandemic
* 7.2.1 Public response measures
* 7.2.2 Anti-viral drugs
* 7.2.3 Vaccines
* 8 Government preparations for a potential H5N1 pandemic (2003–2009)
* 8.1 United Nations
* 8.2 World Health Organization
* 8.3 United States
* 8.4 Canada
* 8.5 Malaysia
* 9 See also
* 10 Citations
* 11 External links
## Influenza[edit]
Main article: Influenza
Structure of the influenza viron. The hemagglutinin (HA) and neuraminidase (NA) proteins are shown on the surface of the particle. The viral RNAs that make up the genome are shown as red coils inside the particle and bound to Ribonuclear Proteins (RNPs).
Influenza, commonly known as the flu, is an infectious disease of birds and mammals. It was thought to be caused by comets, earthquakes, volcanoes, cosmic dust, the rising and setting of the sun, vapors arising from the air and ground, or a blast from the stars.[6] Now we know that it is caused by an RNA virus of the family Orthomyxoviridae (the influenza viruses). In humans, common symptoms of influenza infection are fever, sore throat, muscle pains, severe headache, coughing, and weakness and fatigue.[7] In more serious cases, influenza causes pneumonia, which can be fatal, particularly in young children and the elderly. While sometimes confused with the common cold, influenza is a much more severe disease and is caused by a different type of virus.[8] Although nausea and vomiting can be produced, especially in children,[7] these symptoms are more characteristic of the unrelated gastroenteritis, which is sometimes called "stomach flu" or "24-hour flu."[9]
Typically, influenza is transmitted from infected mammals through the air by coughs or sneezes, creating aerosols containing the virus, and from infected birds through their droppings. Influenza can also be transmitted by saliva, nasal secretions, feces and blood. Healthy individuals can become infected if they breathe in a virus-laden aerosol directly, or if they touch their eyes, nose or mouth after touching any of the aforementioned bodily fluids (or surfaces contaminated with those fluids). Flu viruses can remain infectious for about one week at human body temperature, over 30 days at 0 °C (32 °F), and indefinitely at very low temperatures (such as lakes in northeast Siberia). Most influenza strains can be inactivated easily by disinfectants and detergents.[10][11][12]
Flu spreads around the world in seasonal epidemics. Ten pandemics were recorded before the Spanish flu of 1918.[6] Three influenza pandemics occurred during the 20th century and killed tens of millions of people, with each of these pandemics being caused by the appearance of a new strain of the virus in humans. Often, these new strains result from the spread of an existing flu virus to humans from other animal species, so close proximity between humans and animals can promote epidemics. In addition, epidemiological factors, such as the WWI practice of packing soldiers with severe influenza illness into field hospitals while soldiers with mild illness stayed outside on the battlefield, are an important determinant of whether or not a new strain of influenza virus will spur a pandemic.[13] (During the 1918 Spanish flu pandemic, this practice served to promote the evolution of more virulent viral strains over those that produced mild illness.) When it first killed humans in Asia in the 1990s, a deadly avian strain of H5N1 posed a great risk for a new influenza pandemic; however, this virus did not mutate to spread easily between people.[14][permanent dead link]
Vaccinations against influenza are most commonly given to high-risk humans in industrialized countries[15] and to farmed poultry.[16] The most common human vaccine is the trivalent influenza vaccine that contains purified and inactivated material from three viral strains. Typically this vaccine includes material from two influenza A virus subtypes and one influenza B virus strain.[17] A vaccine formulated for one year may be ineffective in the following year, since the influenza virus changes rapidly over time and different strains become dominant. Antiviral drugs can be used to treat influenza, with neuraminidase inhibitors being particularly effective.
## Variants and subtypes of Influenzavirus A[edit]
Main article: Influenzavirus A
Variants of Influenzavirus A are identified and named according to the isolate that they are like and thus are presumed to share lineage (example Fujian flu virus like); according to their typical host (example Human flu virus); according to their subtype (example H3N2); and according to their deadliness (e.g., Low Pathogenic as discussed below). So a flu from a virus similar to the isolate A/Fujian/411/2002(H3N2) is called Fujian flu, human flu, and H3N2 flu.
The various types of influenza viruses in humans. Solid squares show the appearance of a new strain, causing recurring influenza pandemics. Broken lines indicate uncertain strain identifications.[18]
Variants are sometimes named according to the species (host) the strain is endemic in or adapted to. Some variants named using this convention are:[19]
* Bird Flu
* Dog flu
* Horse flu
* Human flu
* Swine flu
Avian variants have also sometimes been named according to their deadliness in poultry, especially chickens:
* Low Pathogenic Avian Influenza (LPAI)
* Highly Pathogenic Avian Influenza (HPAI), also called: deadly flu or death flu
The Influenza A virus subtypes are labeled according to an H number (for hemagglutinin) and an N number (for neuraminidase). Each subtype virus has mutated into a variety of strains with differing pathogenic profiles; some pathogenic to one species but not others, some pathogenic to multiple species. Most known strains are extinct strains. For example, the annual flu subtype H3N2 no longer contains the strain that caused the Hong Kong Flu.[20]
Influenza A viruses are negative sense, single-stranded, segmented RNA viruses. "There are 16 different HA antigens (H1 to H16) and nine different NA antigens (N1 to N9) for influenza A. Until recently, 15 HA types had been recognized, but recently two new types were isolated: a new type (H16) was isolated from black-headed gulls caught in Sweden and the Netherlands in 1999 and reported in the literature in 2005."[21] "The other, H17, was isolated from fruit bats caught in Guatemala and reported in the literature in 2013."[22]
## Nature of a flu pandemic[edit]
Some pandemics are relatively minor such as the one in 1957 called Asian flu (1–4 million dead, depending on source). Others have a higher Pandemic Severity Index whose severity warrants more comprehensive social isolation measures.[23]
The 1918 pandemic killed tens of millions and sickened hundreds of millions; the loss of this many people in the population caused upheaval and psychological damage to many people.[24] There were not enough doctors, hospital rooms, or medical supplies for the living as they contracted the disease. Dead bodies were often left unburied as few people were available to deal with them. There can be great social disruption as well as a sense of fear. Efforts to deal with pandemics can leave a great deal to be desired because of human selfishness, lack of trust, illegal behavior, and ignorance. For example, in the 1918 pandemic: "This horrific disconnect between reassurances and reality destroyed the credibility of those in authority. People felt they had no one to turn to, no one to rely on, no one to trust."[25]
A letter from a physician at one U.S. Army camp in the 1918 pandemic said:
> It is only a matter of a few hours then until death comes [...]. It is horrible. One can stand it to see one, two or twenty men die, but to see these poor devils dropping like flies [...]. We have been averaging about 100 deaths per day [...]. Pneumonia means in about all cases death [...]. We have lost an outrageous number of Nurses and Drs. It takes special trains to carry away the dead. For several days there were no coffins and the bodies piled up something fierce [...].[26]
### Wave nature[edit]
Flu pandemics typically come in waves. The 1889–1890 and 1918–1919 flu pandemics each came in three or four waves of increasing lethality.[27] But within a wave, mortality was greater at the beginning of the wave.[28]
### Variable mortality[edit]
Mortality varies widely in a pandemic. In the 1918 pandemic:
> In U.S. Army camps where reasonably reliable statistics were kept, case mortality often exceeded 5 percent, and in some circumstances exceeded 10 percent. In the British Army in India, case mortality for white troops was 9.6 percent, for Indian troops 21.9 percent. In isolated human populations, the virus killed at even higher rates. In the Fiji islands, it killed 14 percent of the entire population in 16 days. In Labrador and Alaska, it killed at least one-third of the entire native population.[29]
## Influenza pandemics[edit]
A 1921 book lists nine influenza pandemics prior to the 1889–90 flu, the first in 1510.[6] A more modern source lists six.[30]
Major modern influenza pandemics[31][32] Name Date World pop. Subtype Reproduction number[33] Infected (est.) Deaths worldwide Case fatality rate Pandemic severity
1889–90 flu pandemic[34] 1889–90 1.53 billion Likely H3N8 or H2N2 2.10 (IQR, 1.9–2.4)[34] 20–60%[34] (300–900 million) 1 million 0.10–0.28%[34] 2
1918 flu[35] 1918–20 1.80 billion H1N1 1.80 (IQR, 1.47–2.27) 33% (500 million)[36] or >56% (>1 billion)[37] 17[38]–100[39][40] million 2–3%,[37] or ~4%, or ~10%[41] 5
Asian flu 1957–58 2.90 billion H2N2 1.65 (IQR, 1.53–1.70) >17% (>500 million)[37] 1–4 million[37] <0.2%[37] 2
Hong Kong flu 1968–69 3.53 billion H3N2 1.80 (IQR, 1.56–1.85) >14% (>500 million)[37] 1–4 million[37] <0.1%[37][42] 2
2009 flu pandemic[43][44] 2009–10 6.85 billion H1N1/09 1.46 (IQR, 1.30–1.70) 11–21% (0.7–1.4 billion)[45] 151,700–575,400[46] 0.01%[47][48] 1
Typical seasonal flu[t 1] Every year 7.75 billion A/H3N2, A/H1N1, B, ... 1.28 (IQR, 1.19–1.37) 5–15% (340 million – 1 billion)[49]
3–11% or 5–20%[50][51] (240 million – 1.6 billion) 290,000–650,000/year[52] <0.1%[53] 1
Notes
1. ^ Not pandemic, but included for comparison purposes.
### Spanish flu (1918–1920)[edit]
Main article: 1918 flu
The 1918 flu pandemic, commonly referred to as the Spanish flu, was a category 5 influenza pandemic caused by an unusually severe and deadly Influenza A virus strain of subtype H1N1.
The difference between the influenza mortality age-distributions of the 1918 epidemic and normal epidemics. Deaths per 100,000 persons in each age group, United States, for the interpandemic years 1911–1917 (dashed line) and the pandemic year 1918 (solid line).[54]
The Spanish flu pandemic lasted from 1918 to 1920.[55] Older estimates say it killed 40–50 million people[56] while current estimates say 50 million to 100 million people worldwide were killed.[27] This pandemic has been described as "the greatest medical holocaust in history" and may have killed as many people as the Black Death,[57] although the Black Death is estimated to have killed over a fifth of the world's population at the time,[58] a significantly higher proportion. This huge death toll was caused by an extremely high infection rate of up to 50% and the extreme severity of the symptoms, suspected to be caused by cytokine storms.[56] Indeed, symptoms in 1918 were so unusual that initially influenza was misdiagnosed as dengue, cholera, or typhoid. One observer wrote, "One of the most striking of the complications was hemorrhage from mucous membranes, especially from the nose, stomach, and intestine. Bleeding from the ears and petechial hemorrhages in the skin also occurred."[27] The majority of deaths were from bacterial pneumonia, a secondary infection caused by influenza, but the virus also killed people directly, causing massive hemorrhages and edema in the lung.[59]
The Spanish flu pandemic was truly global, spreading even to the Arctic and remote Pacific islands. The unusually severe disease killed between 10 and 20% of those infected, as opposed to the more usual flu epidemic mortality rate of 0.1%.[27][54] Another unusual feature of this pandemic was that it mostly killed young adults, with 99% of pandemic influenza deaths occurring in people under 65, and more than half in young adults 20 to 40 years old.[60] This is unusual since influenza is normally most deadly to the very young (under age 2) and the very old (over age 70). The total mortality of the 1918–1919 pandemic is estimated to be between 50 and 100 million people, constituting approximately 3–6% of the world's population. As many as 25 million may have been killed in the first 25 weeks; in contrast, HIV/AIDS has killed 25 million in its first 25 years.[27]
### Asian flu (1957–1958)[edit]
Main article: 1957–58 influenza pandemic
The Asian flu was a category 2 flu pandemic outbreak of avian influenza that originated in China in early 1956 lasting until 1958. It originated from a mutation in wild ducks combining with a pre-existing human strain.[61] The virus was first identified in Guizhou.[62] It spread to Singapore in February 1957, reached Hong Kong by April, and US by June. Death toll in the US was approximately 116,000.[63] The elderly were particularly vulnerable.[64] Estimates of worldwide deaths vary widely depending on source, ranging from 1 million to 4 million.
### Hong Kong flu (1968–1969)[edit]
Main article: Hong Kong flu
The Hong Kong flu was a category 2 flu pandemic caused by a strain of H3N2 descended from H2N2 by antigenic shift, in which genes from multiple subtypes reassorted to form a new virus. The Hong Kong Flu pandemic of 1968 and 1969 killed an estimated one million people worldwide.[65][66] Those over 65 had the greatest death rates.[64] In the US, there were about 100,000 deaths.[67]
### H1N1/09 flu pandemic (2009–2010)[edit]
Main article: 2009 flu pandemic
An epidemic of influenza-like illness of unknown causation occurred in Mexico in March–April 2009. On 24 April 2009, following the isolation of an A/H1N1 influenza in seven ill patients in the southwest US, the WHO issued a statement on the outbreak of "influenza like illness" that confirmed cases of A/H1N1 influenza had been reported in Mexico, and that 20 confirmed cases of the disease had been reported in the US. The next day, the number of confirmed cases rose to 40 in the US, 26 in Mexico, six in Canada, and one in Spain. The disease spread rapidly through the rest of the spring, and by 3 May, a total of 787 confirmed cases had been reported worldwide.[68] On 11 June 2009, the ongoing outbreak of Influenza A/H1N1, commonly referred to as swine flu, was officially declared by the WHO to be the first influenza pandemic of the 21st century and a new strain of Influenza A virus subtype H1N1 first identified in April 2009.[69] It is thought to be a mutation (reassortment) of four known strains of influenza A virus subtype H1N1: one endemic in humans, one endemic in birds, and two endemic in pigs (swine).[70] The rapid spread of this new virus was likely due to a general lack of pre-existing antibody-mediated immunity in the human population.[71]
On 1 November 2009, a worldwide update by the WHO stated that "199 countries and overseas territories/communities have officially reported a total of over 482,300 laboratory confirmed cases of the influenza pandemic H1N1 infection, that included 6,071 deaths."[72] By the end of the pandemic, there were more than 18,000 laboratory-confirmed deaths from H1N1.[73] Due to inadequate surveillance and lack of healthcare in many countries, the actual total of cases and deaths was likely much higher than reported. Experts, including the WHO, have since agreed that an estimated 284,500 people were killed by the disease, about 15 times the number of deaths in the initial death toll.[74][75]
## Other pandemic threat subtypes[edit]
"Human influenza virus" usually refers to those subtypes that spread widely among humans. H1N1, H1N2, and H3N2 are the only known Influenza A virus subtypes currently circulating among humans.[76]
Genetic factors in distinguishing between "human flu viruses" and "avian influenza viruses" include:
PB2: (RNA polymerase): Amino acid (or residue) position 627 in the PB2 protein encoded by the PB2 RNA gene. Until H5N1, all known avian influenza viruses had a glutamic acid at position 627, while all human influenza viruses had a lysine.
HA: (hemagglutinin): Avian influenza HA bind alpha 2–3 sialic acid receptors while human influenza HA bind alpha 2–6 sialic acid receptors.
"About 52 key genetic changes distinguish avian influenza strains from those that spread easily among people, according to researchers in Taiwan, who analyzed the genes of more than 400 A type flu viruses."[77] "How many mutations would make an avian virus capable of infecting humans efficiently, or how many mutations would render an influenza virus a pandemic strain, is difficult to predict. We have examined sequences from the 1918 strain, which is the only pandemic influenza virus that could be entirely derived from avian strains. Of the 52 species-associated positions, 16 have residues typical for human strains; the others remained as avian signatures. The result supports the hypothesis that the 1918 pandemic virus is more closely related to the avian influenza A virus than are other human influenza viruses."[78]
Highly pathogenic H5N1 avian influenza kills 50% of humans that catch it. In one case, a boy with H5N1 experienced diarrhea followed rapidly by a coma without developing respiratory or flu-like symptoms.[79]
The Influenza A virus subtypes that have been confirmed in humans, ordered by the number of known human pandemic deaths, are:
* H1N1 caused Spanish flu and the 2009 swine flu pandemic (novel H1N1)
* H2N2 caused Asian flu
* H3N2 caused Hong Kong flu
* H5N1 is bird flu, endemic in avians
* H7N7 has unusual zoonotic potential
* H1N2 is currently endemic in humans and pigs
* H9N2, H7N2, H7N3, H10N7
H1N1
Main articles: H1N1 and Pandemic H1N1/09 virus
Further information: 2009 swine flu pandemic
External images
Microscopic image of the H1N1 virus
Microscopic image of the H1N1 virus
H1N1 is currently endemic in both human and pig populations. A variant of H1N1 was responsible for the Spanish flu pandemic that killed some 50 million to 100 million people worldwide over about a year in 1918 and 1919.[80] Controversy arose in October 2005, after the H1N1 genome was published in the journal, Science. Many fear that this information could be used for bioterrorism.[81]
> When he compared the 1918 virus with today's human flu viruses, Dr. Taubenberger noticed that it had alterations in just 25 to 30 of the virus's 4,400 amino acids. Those few changes turned a bird virus into a killer that could spread from person to person.[82]
In mid-April 2009, an H1N1 variant appeared in Mexico, with its center in Mexico City. By 26 April the variant had spread widely; with cases reported in Canada, the US, New Zealand, the UK, France, Spain and Israel. On 29 April WHO raised the worldwide pandemic phase to 5.[83] On 11 June 2009 the WHO raised the worldwide pandemic phase to 6, which means that the H1N1 swine flu has reached pandemic proportions, with nearly 30,000 confirmed cases worldwide.[84] A 13 November 2009 worldwide update by the UN's World Health Organization (WHO) states that "206 countries and overseas territories/communities have officially reported over 503,536 laboratory confirmed cases of the influenza pandemic H1N1 infection, including 6,250 deaths."[85]
H2N2
Main article: H2N2
The Asian Flu was a pandemic outbreak of H2N2 avian influenza that originated in China in 1957, spread worldwide that same year during which an influenza vaccine was developed, lasted until 1958 and caused between one and four million deaths.
H3N2
Main article: H3N2
H3N2 is currently endemic in both human and pig populations. It evolved from H2N2 by antigenic shift and caused the Hong Kong Flu pandemic of 1968 and 1969 that killed up to 750,000.[86]"An early-onset, severe form of influenza A H3N2 made headlines when it claimed the lives of several children in the United States in late 2003."[87]
The dominant strain of annual flu in January 2006 is H3N2. Measured resistance to the standard antiviral drugs amantadine and rimantadine in H3N2 has increased from 1% in 1994 to 12% in 2003 to 91% in 2005.[88]
> [C]ontemporary human H3N2 influenza viruses are now endemic in pigs in southern China and can reassort with avian H5N1 viruses in this intermediate host.[89]
H7N7
Main article: H7N7
H7N7 has unusual zoonotic potential. In 2003 in Netherlands 89 people were confirmed to have H7N7 influenza virus infection following an outbreak in poultry on several farms. One death was recorded.
H1N2
Main article: H1N2
H1N2 is currently endemic in both human and pig populations. The new H1N2 strain appears to have resulted from the reassortment of the genes of the currently circulating influenza H1N1 and H3N2 subtypes. The hemagglutinin protein of the H1N2 virus is similar to that of the currently circulating H1N1 viruses and the neuraminidase protein is similar to that of the current H3N2 viruses.
## Assessment of a flu pandemic[edit]
See also: Pandemic § Assessment
### Stages[edit]
See also: Pandemic § Stages
WHO Pandemic Influenza Phases (2009)[90][91]
Phase Description
Phase 1 No animal influenza virus circulating among animals have been reported to cause infection in humans.
Phase 2 An animal influenza virus circulating in domesticated or wild animals is known to have caused infection in humans and is therefore considered a specific potential pandemic threat.
Phase 3 An animal or human-animal influenza reassortant virus has caused sporadic cases or small clusters of disease in people, but has not resulted in human-to-human transmission sufficient to sustain community-level outbreaks.
Phase 4 Human to human transmission of an animal or human-animal influenza reassortant virus able to sustain community-level outbreaks has been verified.
Phase 5 Human-to-human spread of the virus in two or more countries in one WHO region.
Phase 6 In addition to the criteria defined in Phase 5, the same virus spreads from human-to-human in at least one other country in another WHO region.
Post peak period Levels of pandemic influenza in most countries with adequate surveillance have dropped below peak levels.
Post pandemic period Levels of influenza activity have returned to the levels seen for seasonal influenza in most countries with adequate surveillance.
The World Health Organization (WHO) developed a global influenza preparedness plan, which defines the stages of a pandemic, outlines WHO's role and makes recommendations for national measures before and during a pandemic.[92]
In the 2009 revision of the phase descriptions, the WHO has retained the use of a six-phase approach for easy incorporation of new recommendations and approaches into existing national preparedness and response plans.[clarification needed] The grouping and description of pandemic phases have been revised to make them easier to understand, more precise, and based upon observable phenomena. Phases 1–3 correlate with preparedness, including capacity development and response planning activities, while phases 4–6 clearly signal the need for response and mitigation efforts. Furthermore, periods after the first pandemic wave are elaborated to facilitate post pandemic recovery activities.
In February 2020, WHO spokesperson Tarik Jasarevic explained that the WHO no longer uses this six-phase classification model: "For the sake of clarification, WHO does not use the old system of 6 phases—that ranged from phase 1 (no reports of animal influenza causing human infections) to phase 6 (a pandemic)—that some people may be familiar with from H1N1 in 2009."[93]
For reference, the phases are defined below.[94]
In nature, influenza viruses circulate continuously among animals, especially birds. Even though such viruses might theoretically develop into pandemic viruses, in Phase 1 no viruses circulating among animals have been reported to cause infections in humans.
In Phase 2 an animal influenza virus circulating among domesticated or wild animals is known to have caused infection in humans, and is therefore considered a potential pandemic threat.
In Phase 3, an animal or human-animal influenza reassortant virus has caused sporadic cases or small clusters of disease in people, but has not resulted in human-to-human transmission sufficient to sustain community-level outbreaks. Limited human-to-human transmission may occur under some circumstances, for example, when there is close contact between an infected person and an unprotected caregiver. However, limited transmission under such restricted circumstances does not indicate that the virus has gained the level of transmissibility among humans necessary to cause a pandemic.
Phase 4 is characterized by verified human-to-human transmission of an animal or human-animal influenza reassortant virus able to cause "community-level outbreaks". The ability to cause sustained disease outbreaks in a community marks a significant upwards shift in the risk for a pandemic. Any country that suspects or has verified such an event should urgently consult with the WHO so that the situation can be jointly assessed and a decision made by the affected country if implementation of a rapid pandemic containment operation is warranted. Phase 4 indicates a significant increase in risk of a pandemic but does not necessarily mean that a pandemic is a foregone conclusion.
Phase 5 is characterized by human-to-human spread of the virus into at least two countries in one WHO region. While most countries will not be affected at this stage, the declaration of Phase 5 is a strong signal that a pandemic is imminent and that the time to finalize the organization, communication, and implementation of the planned mitigation measures is short.
Phase 6, the pandemic phase, is characterized by community level outbreaks in at least one other country in a different WHO region in addition to the criteria defined in Phase 5. Designation of this phase will indicate that a pandemic is under way.
During the post-peak period, pandemic disease levels in most countries with adequate surveillance will have dropped below peak observed levels. The post-peak period signifies that pandemic activity appears to be decreasing; however, it is uncertain if additional waves will occur and countries will need to be prepared for a second wave.
Previous pandemics have been characterized by waves of activity spread over months. Once the level of disease activity drops, a critical communications task will be to balance this information with the possibility of another wave. Pandemic waves can be separated by months and an immediate "at-ease" signal may be premature.
In the post-pandemic period, influenza disease activity will have returned to levels normally seen for seasonal influenza. It is expected that the pandemic virus will behave as a seasonal influenza A virus. At this stage, it is important to maintain surveillance and update pandemic preparedness and response plans accordingly. An intensive phase of recovery and evaluation may be required.
Influenza intervals in the CDC's Pandemic Intervals Framework
In 2014, The United States Centers for Disease Control and Prevention introduced an analogous framework to the WHO's pandemic stages titled the Pandemic Intervals Framework.[95] It includes two pre-pandemic intervals,
* Investigation
* Recognition
and four pandemic intervals,
* Initiation
* Acceleration
* Deceleration
* Preparation
It also includes a table defining the intervals and mapping them to the WHO pandemic stages.
### Severity[edit]
See also: Pandemic § Severity, and Pandemic Severity Assessment Framework
Estimates of hypothetical influenza deaths in the 2010 United States population (308,745,538 persons) across varying values of case-fatality ratio and the cumulative incidence of infection in the population. Selected estimated numbers of deaths are indicated with a black line, across each relevant combination of case-fatality ratio and cumulative incidence. In addition, the background color transitions from blue to yellow to red as the estimated absolute number of deaths increases. Case-fatality ratio is an example of a clinical severity measure and cumulative incidence of infection is an example of a transmissibility measure in the Pandemic Severity Assessment Framework.[96]
Scaled examples of past influenza pandemics and past influenza seasons. Color scheme included to represent corresponding hypothetical estimates of influenza deaths in the 2010 US population, with the same color scale as the previous figure.[96]
In 2014 the United States Centers for Disease Control and Prevention adopted the Pandemic Severity Assessment Framework (PSAF) to assess the severity of pandemics.[95] The PSAF superseded the 2007 linear Pandemic Severity Index, which assumed 30% spread and measured case fatality rate (CFR) to assess the severity and evolution of the pandemic.[97]
Historically, measures of pandemic severity were based on the case fatality rate.[98] However, the case fatality rate might not be an adequate measure of pandemic severity during a pandemic response because:[96]
* Deaths may lag several weeks behind cases, making the case fatality rate an underestimate
* The total number of cases may not be known, making the case fatality rate an overestimate[99]
* A single case fatality rate for the entire population may obscure the effect on vulnerable sub-populations, such as children, the elderly, those with chronic conditions, and members of certain racial and ethnic minorities
* Fatalities alone may not account for the full effects of the pandemic, such as absenteeism or demand on healthcare services
To account for the limitations of measuring the case fatality rate alone, the PSAF rates severity of a disease outbreak on two dimensions: clinical severity of illness in infected persons; and the transmissibility of the infection in the population.[96] Each dimension can be measured using more than one measure, which are scaled to allow comparison of the different measures.
## Management of a flu pandemic[edit]
See also: Pandemic § Management
### Strategies to prevent a flu pandemic[edit]
This section contains strategies to prevent a flu pandemic by a Council on Foreign Relations panel.[100]
If influenza remains an animal problem with limited human-to-human transmission it is not a pandemic, though it continues to pose a risk. To prevent the situation from progressing to a pandemic, the following short-term strategies have been put forward:
* Culling and vaccinating livestock
* Vaccinating poultry workers against common flu
* Limiting travel in areas where the virus is found[100]
The rationale for vaccinating poultry workers against common flu is that it reduces the probability of common influenza virus recombining with avian H5N1 virus to form a pandemic strain. Longer-term strategies proposed for regions where highly pathogenic H5N1 is endemic in wild birds have included:
* changing local farming practices to increase farm hygiene and reduce contact between livestock and wild birds.
* altering farming practices in regions where animals live in close, often unsanitary quarters with people, and changing the practices of open-air "wet markets" where birds are kept for live sale and slaughtered on-site. A challenge to implementing these measures is widespread poverty, frequently in rural areas, coupled with a reliance upon raising fowl for purposes of subsistence farming or income without measures to prevent propagation of the disease.
* changing local shopping practices from purchase of live fowl to purchase of slaughtered, pre-packaged fowl.
* improving veterinary vaccine availability and cost.[100]
### Strategies to slow down a flu pandemic[edit]
See also: Flu research
#### Public response measures[edit]
The main ways available to tackle a flu pandemic initially are behavioural. Doing so requires a good public health communication strategy and the ability to track public concerns, attitudes and behaviour. For example, the Flu TElephone Survey Template (FluTEST) was developed for the UK Department of Health as a set of questions for use in national surveys during a flu pandemic.[101]
* Social distancing: By traveling less, working from home or closing schools, there is less opportunity for the virus to spread. Reduce the time spent in crowded settings if possible. And keep your distance (preferably at least 1 metre) from people who show symptoms of influenza-like illness, such as coughing and sneezing.[102] However, social distancing during a pandemic flu will likely carry severe mental health consequences; therefore, sequestration protocols should take mental health issues into consideration.[103]
* Respiratory hygiene: Advise people to cover their coughs and sneezes. If using a tissue, make sure you dispose of it carefully and then clean your hands immediately afterwards. (See "Handwashing Hygiene" below.) If you do not have a tissue handy when you cough or sneeze, cover your mouth as much as possible with the crook of your elbow.[102]
* Handwashing hygiene: Frequent handwashing with soap and water (or with an alcohol-based hand sanitizer) is very important, especially after coughing or sneezing, and after contact with other people or with potentially contaminated surfaces (such as handrails, shared utensils, etc.)[104]
* Other hygiene: Avoid touching your eyes, nose and mouth as much as possible.[102]
* Masks: No mask can provide a perfect barrier, but products that meet or exceed the NIOSH N95 standard recommended by the World Health Organization are thought to provide good protection. WHO recommends that health-care workers wear N95 masks and that patients wear surgical masks (which may prevent respiratory secretions from becoming airborne).[105] Any mask may be useful to remind the wearer not to touch the face. This can reduce infection due to contact with contaminated surfaces, especially in crowded public places where coughing or sneezing people have no way of washing their hands. The mask itself can become contaminated and must be handled as medical waste when removed.
* Risk communication: To encourage the public to comply with strategies to reduce the spread of disease, "communications regarding possible community interventions [such as requiring sick people to stay home from work, closing schools] for pandemic influenza that flow from the federal government to communities and from community leaders to the public not overstate the level of confidence or certainty in the effectiveness of these measures."[106]
The Institute of Medicine has published a number of reports and summaries of workshops on public policy issues related to influenza pandemics. They are collected in Pandemic Influenza: A Guide to Recent Institute of Medicine Studies and Workshops,[107] and some strategies from these reports are included in the list above. Relevant learning from the 2009 flu pandemic in the UK was published in Health Technology Assessment, volume 14, issue 34.[108][109][110][111][112][113] Asymptomatic transmission appears to play a small role, but was not well studied by 2009.[114]
#### Anti-viral drugs[edit]
There are two groups of antiviral drugs available for the treatment and prophylaxis of influenza: neuraminidase inhibitors such as Oseltamivir (trade name Tamiflu) and Zanamivir (trade name Relenza), and adamantanes such as amantadine and rimantadine. Due to the high rate of side effects and risk of antiviral resistance, use of adamantanes to fight influenza is limited.[115]
Many nations, as well as the World Health Organization, are working to stockpile anti-viral drugs in preparation for a possible pandemic. Oseltamivir is the most commonly sought drug, since it is available in pill form. Zanamivir is also considered for use, but it must be inhaled. Other anti-viral drugs are less likely to be effective against pandemic influenza.
Both Tamiflu and Relenza are in short supply, and production capabilities are limited in the medium term. Some doctors say that co-administration of Tamiflu with probenecid could double supplies.[116]
There also is the potential of viruses to evolve drug resistance. Some H5N1-infected persons treated with oseltamivir have developed resistant strains of that virus.
#### Vaccines[edit]
A vaccine probably would not be available in the initial stages of population infection.[117] A vaccine cannot be developed to protect against a virus which does not exist yet. The avian flu virus H5N1 has the potential to mutate into a pandemic strain, but so do other types of flu virus. Once a potential virus is identified and a vaccine is approved, it normally takes five to six months before the vaccine becomes available.[118]
The capability to produce vaccines varies widely from country to country; only 19 countries are listed as "influenza vaccine manufacturers" according to the World Health Organization.[119] It is estimated that, in a best scenario situation, 750 million doses could be produced each year, whereas it is likely that each individual would need two doses of the vaccine to become immuno-competent. Distribution to and inside countries would probably be problematic.[120] Several countries, however, have well-developed plans for producing large quantities of vaccine. For example, Canadian health authorities say that they are developing the capacity to produce 32 million doses within four months, enough vaccine to inoculate every person in the country.[121]
Another concern is whether countries which do not manufacture vaccines themselves, including those where a pandemic strain is likely to originate, will be able to purchase vaccine to protect their population. Cost considerations aside, they fear that the countries with vaccine-manufacturing capability will reserve production to protect their own populations and not release vaccines to other countries until their own population is protected. Indonesia has refused to share samples of H5N1 strains which have infected and killed its citizens until it receives assurances that it will have access to vaccines produced with those samples. So far, it has not received those assurances.[122] However, in September 2009, Australia, Brazil, France, Italy, New Zealand, Norway, Switzerland, the UK, and the USA agreed to make 10 percent of their H1N1 vaccine supply available to less-developed countries.[123]
There are two serious technical problems associated with the development of a vaccine against H5N1. The first problem is this: seasonal influenza vaccines require a single injection of 15 μg haemagluttinin in order to give protection; H5 seems to evoke only a weak immune response and a large multicentre trial found that two injections of 90 µg H5 given 28 days apart provided protection in only 54% of people.[124] Even if it is considered that 54% is an acceptable level of protection, the world is currently capable of producing only 900 million doses at a strength of 15 μg (assuming that all production were immediately converted to manufacturing H5 vaccine); if two injections of 90 μg are needed then this capacity drops to only 70 million.[125] Trials using adjuvants such as alum, AS03, AS04 or MF59 to try and lower the dose of vaccine are urgently needed. The second problem is this: there are two circulating clades of virus, clade 1 is the virus originally isolated in Vietnam, clade 2 is the virus isolated in Indonesia. Vaccine research has mostly been focused on clade 1 viruses, but the clade 2 virus is antigenically distinct and a clade 1 vaccine will probably not protect against a pandemic caused by clade 2 virus.
Since 2009, most vaccine development efforts have been focused on the current pandemic influenza virus H1N1. As of July 2009, more than 70 known clinical trials have been completed or are ongoing for pandemic influenza vaccines.[126] In September 2009, the US Food and Drug Administration approved four vaccines against the 2009 H1N1 influenza virus, and expected the initial vaccine lots to be available within the following month.[127]
## Government preparations for a potential H5N1 pandemic (2003–2009)[edit]
According to The New York Times as of March 2006, "governments worldwide have spent billions planning for a potential influenza pandemic: buying medicines, running disaster drills, [and] developing strategies for tighter border controls" due to the H5N1 threat.[128]
> [T]he United States is collaborating closely with eight international organizations, including the World Health Organization (WHO), the Food and Agriculture Organization of the United Nations (FAO), the World Organization for Animal Health (OIE), and 88 foreign governments to address the situation through planning, greater monitoring, and full transparency in reporting and investigating avian influenza occurrences. The United States and these international partners have led global efforts to encourage countries to heighten surveillance for outbreaks in poultry and significant numbers of deaths in migratory birds and to rapidly introduce containment measures. The U.S. Agency for International Development (USAID) and the U.S. Departments of State, Health and Human Services (HHS), and Agriculture (USDA) are coordinating future international response measures on behalf of the White House with departments and agencies across the federal government.[129]
Together steps are being taken to "minimize the risk of further spread in animal populations", "reduce the risk of human infections", and "further support pandemic planning and preparedness".[129]
Ongoing detailed mutually coordinated onsite surveillance and analysis of human and animal H5N1 avian flu outbreaks are being conducted and reported by the USGS National Wildlife Health Center, the CDC, the ECDC, the World Health Organization, the European Commission, the National Influenza Centers, and others.[130][failed verification]
### United Nations[edit]
In September 2005, David Nabarro, a lead UN health official, warned that a bird flu outbreak could happen at any time and had the potential to kill 5–150 million people.[131]
### World Health Organization[edit]
The World Health Organization (WHO), believing that the world was closer to another influenza pandemic than it has been any time since 1968, when the last of the 20th century's three pandemics swept the globe, has developed guidelines on pandemic influenza preparedness and response. The March 2005 plan includes guidance on roles and responsibilities in preparedness and response; information on pandemic phases; and recommended actions for before, during, and after a pandemic.[132]
### United States[edit]
"[E]fforts by the federal government to prepare for pandemic influenza at the national level include a $100 million DHHS initiative in 2003 to build U.S. vaccine production. Several agencies within Department of Health and Human Services (DHHS)—including the Office of the Secretary, the Food and Drug Administration (FDA), CDC, and the National Institute of Allergy and Infectious Diseases (NIAID)—are in the process of working with vaccine manufacturers to facilitate production of pilot vaccine lots for both H5N1 and H9N2 strains as well as contracting for the manufacturing of 2 million doses of an H5N1 vaccine. This H5N1 vaccine production will provide a critical pilot test of the pandemic vaccine system; it will also be used for clinical trials to evaluate dose and immunogenicity and can provide initial vaccine for early use in the event of an emerging pandemic."[133]
Each state and territory of the United States has a specific pandemic flu plan which covers avian flu, swine flu (H1N1), and other potential influenza epidemics. The state plans together with a professionally vetted search engine of flu related research, policies, and plans, is available at the current portal: Pandemic Flu Search.
On 26 August 2004, Secretary of Health and Human Services, Tommy Thompson released a draft Pandemic Influenza Response and Preparedness Plan,[134] which outlined a coordinated national strategy to prepare for and respond to an influenza pandemic. Public comments were accepted for 60 days.
In a speech before the United Nations General Assembly on 14 September 2005, President George W. Bush announced the creation of the International Partnership on Avian and Pandemic Influenza. The Partnership brings together nations and international organizations to improve global readiness by:
* elevating the issue on national agendas;
* coordinating efforts among donor and affected nations;
* mobilizing and leveraging resources;
* increasing transparency in disease reporting and surveillance; and
* building capacity to identify, contain and respond to a pandemic influenza.
On 5 October 2005, Democratic Senators Harry Reid, Evan Bayh, Dick Durbin, Ted Kennedy, Barack Obama, and Tom Harkin introduced the Pandemic Preparedness and Response Act as a proposal to deal with a possible outbreak.[135]
On 27 October 2005, the Department of Health and Human Services awarded a $62.5 million contract to Chiron Corporation to manufacture an avian influenza vaccine designed to protect against the H5N1 influenza virus strain. This followed a previous awarded $100 million contract to sanofi pasteur, the vaccines business of the sanofi-aventis Group, for avian flu vaccine.
In October 2005, Bush urged bird flu vaccine manufacturers to increase their production.[136]
On 1 November 2005 Bush unveiled the National Strategy To Safeguard Against The Danger of Pandemic Influenza.[137] He also submitted a request to Congress for $7.1 billion to begin implementing the plan. The request includes $251 million to detect and contain outbreaks before they spread around the world; $2.8 billion to accelerate development of cell-culture technology; $800 million for development of new treatments and vaccines; $1.519 billion for the Departments of Health and Human Services (HHS) and Defense to purchase influenza vaccines; $1.029 billion to stockpile antiviral medications; and $644 million to ensure that all levels of government are prepared to respond to a pandemic outbreak.[138]
On 6 March 2006, Mike Leavitt, Secretary of Health and Human Services, said U.S. health agencies are continuing to develop vaccine alternatives that will protect against the evolving avian influenza virus.[139]
The U.S. government, bracing for the possibility that migrating birds could carry a deadly strain of bird flu to North America, plans to test nearly eight times as many wild birds starting in April 2006 as have been tested in the past decade.[140]
On 8 March 2006, Dr. David Nabarro, senior UN coordinator for avian and human influenza, said that given the flight patterns of wild birds that have been spreading avian influenza (bird flu) from Asia to Europe and Africa, birds infected with the H5N1 virus could reach the Americas within the next six to 12 months.[141]
"5 Jul 2006 (CIDRAP News) – In an update on pandemic influenza preparedness efforts, the federal government said last week it had stockpiled enough vaccine against H5N1 avian influenza virus to inoculate about 4 million people and enough antiviral medication to treat about 6.3 million."[142]
### Canada[edit]
The Public Health Agency of Canada follows the WHO's categories, but has expanded them.[143] The avian flu scare of 2006 prompted The Canadian Public Health Agency to release an updated Pandemic Influenza Plan for Health Officials. This document was created to address the growing concern over the hazards faced by public health officials when exposed to sick or dying patients.
### Malaysia[edit]
Since the Nipah virus outbreak in 1999, the Malaysian Health Ministry have put in place processes to be better prepared to protect the Malaysian population from the threat of infectious diseases. Malaysia was fully prepared during the Severe Acute Respiratory Syndrome (SARS) situation (Malaysia was not a SARS-affected country) and the episode of the H5N1 (bird flu) outbreak in 2004.
The Malaysian government has developed a National Influenza Pandemic Preparedness Plan (NIPPP) which serves as a time bound guide for preparedness and response plan for influenza pandemic. It provides a policy and strategic framework for a multisectoral response and contains specific advice and actions to be undertaken by the Ministry of Health at the different levels, other governmental departments and agencies and non-governmental organizations to ensure that resources are mobilized and used most efficiently before, during and after a pandemic episode.
## See also[edit]
* Viruses portal
* Medicine portal
* Timeline of influenza
* List of epidemics
## Citations[edit]
1. ^ Klenk, Hans-Dieter; et al. (2008). "Avian Influenza: Molecular Mechanisms of Pathogenesis and Host Range". In Thomas C. Mettenleiter and Francisco Sobrino (ed.). Animal Viruses: Molecular Biology. Caister Academic Press. ISBN 978-1-904455-22-6.
2. ^ Kawaoka Y, ed. (2006). Influenza Virology: Current Topics. Caister Academic Press. ISBN 978-1-904455-06-6.
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7. ^ a b Merck Manual Home Edition. "Influenza". Retrieved 13 August 2020.
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139. ^ "U.S. Health Secretary Says More Bird Flu Vaccines Coming". usinfo.state.gov web site. 7 March 2006. Archived from the original on 14 September 2006. Retrieved 16 September 2006.
140. ^ Manning, Anita (7 March 2006). "With avian flu spreading, U.S. to expand its testing". USA Today. Retrieved 16 September 2006.
141. ^ Aita, Judy (9 March 2006). "United Nations Predicts Bird Flu in the Americas within a Year". usinfo.state.gov web site. Archived from the original on 16 May 2006. Retrieved 16 September 2006.
142. ^ "HHS has enough H5N1 vaccine for 4 million people". Center for Infectious Disease Research & Policy. 5 July 2006. article HHS has enough H5N1 vaccine for 4 million people published 5 July 2006
143. ^ "The Canadian Pandemic Influenza Plan for the Health Sector". Public Health Agency of Canada. 8 December 2006.
## External links[edit]
* EU response to influenza – Health – EU portal
* WHO European Region pandemic influenza website
* EU coordination on Pandemic (H1N1) 2009 – European Commission – Public Health
* The Great Pandemic: The United States in 1918
* PandemicFlu.gov
* Pandemic Viruses at the Influenza Research Database
* A Cruel Wind: Pandemic Flu in America, 1918–1920, by Dorothy A. Pettit, PhD and Janice Bailie, PhD (Timberlane Books, 2009)
* v
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Related topics
* Influenza-like illness
* 2017–2018 United States flu season
* US influenza statistics by flu season
*[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
|
Influenza pandemic
|
None
| 28,335 |
wikipedia
|
https://en.wikipedia.org/wiki/Influenza_pandemic
| 2021-01-18T18:40:28 |
{"wikidata": ["Q2723958"]}
|
A number sign (#) is used with this entry because focal segmental glomerulosclerosis-6 (FSGS6) can be caused by homozygous mutation in the MYO1E gene (601479) on chromosome 15q21.
Description
Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).
Clinical Features
Mele et al. (2011) reported an 18-year-old Italian girl, born of consanguineous parents, who presented at age 9 years with nephrotic-range proteinuria, microhematuria, hypoalbuminemia, and edema. Renal biopsy showed 30% of glomeruli with segmental sclerohyalinosis with capsular crescents and 30% of glomeruli with collapse. There was also focal mesangial hyperplasia and tubular atrophy with tubulitis and interstitial inflammatory infiltrates. There were diffuse glomerular and peritubular deposits of Ig antibodies and complement components. Despite therapy with steroids and cyclosporine, she developed end-stage renal disease at age 13 years and underwent successful kidney transplant at age 17. Two younger sibs were similarly affected, but they showed a partial response to glucocorticoid and cyclosporine therapy. Mele et al. (2011) also reported a Turkish girl from a consanguineous kindred who presented at age 1 year with edema, proteinuria, hematuria, and hypoalbuminemia. Renal biopsy at age 4 years showed segmental or global sclerosis of 20% glomeruli and focal tubular dilatation and atrophy with interstitial fibrosis. Electron microscopy showed effacement of the foot processes, microvillus transformation of podocytes, focal thickening and disorganization of the glomerular basement membrane, and focal expansion of the mesangial matrix. She achieved partial remission with medical treatment. An older sister had died at age 6 years of progressive renal failure.
Molecular Genetics
By genomewide linkage analysis followed by high-throughput sequencing of a consanguineous Italian family with FSGS6, Mele et al. (2011) identified a homozygous mutation in the MYO1E gene (A159P; 601479.0001) on chromosome 15q21. Sequencing of the MYO1E gene in 52 additional patients with FSGS or mesangial sclerosis identified a homozygous truncating mutation (Y695X; 601479.0002) in a Turkish girl with FSGS. The MYO1E protein localizes to the plasma membrane of the podocyte and plays a role in normal glomerular filtration. Cellular studies showed that the A159P-mutant protein mislocalized to the cytoplasm, did not colocalize with F-action, and was unable to promote podocyte migration, indicating a defect in normal MYO1E function.
Animal Model
Krendel et al. (2009) showed that Myo1e localizes to kidney podocytes in mice. Myo1e-knockout mice developed proteinuria and hematuria associated with chronic renal failure, indicating a defect in the glomerular filtration barrier. Renal biopsies showed focal segmental glomerulosclerosis and interstitial fibrosis. Ultrastructural studies showed changes characteristic of glomerular disease, including a thickened and disorganized glomerular basement membrane, flattened, effaced podocyte foot processes, and signs of tubular injury. These defects were not present at birth, but developed in the first weeks of life. The findings indicated that Myo1e plays an important role in podocyte function and normal glomerular filtration, and underscored the importance of the actin cytoskeleton in podocyte biology.
INHERITANCE \- Autosomal recessive GENITOURINARY Kidneys \- Nephrotic syndrome \- Renal failure, progressive \- Focal segmental glomerulosclerosis \- Tubular atrophy \- Mesangial hyperplasia \- Antibody deposits \- Complement component deposits \- Electron microscopy shows foot-process effacement \- Podocytes show microvillous transformation \- Thickening and disorganization of the glomerular basement membrane MUSCLE, SOFT TISSUES \- Edema LABORATORY ABNORMALITIES \- Proteinuria \- Hematuria \- Hypoalbuminemia MISCELLANEOUS \- Onset in childhood (range 1 to 9 years) \- Progressive disorder \- Two unrelated families have been reported (as of July 2011) \- Poor or no response to glucocorticoid treatment MOLECULAR BASIS \- Caused by mutation in the myosin IE gene (MYO1E, 601479.0001 ) ▲ 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
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
|
c1868672
| 28,336 |
omim
|
https://www.omim.org/entry/614131
| 2019-09-22T15:56:25 |
{"doid": ["0111131"], "mesh": ["C536404"], "omim": ["614131"], "orphanet": ["656"], "synonyms": ["Alternative titles", "GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6"]}
|
Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility. Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Rarely, a person with KS will have failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic (not inherited) but some cases are inherited. The mode of inheritance depends on the gene involved. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.
When the features of Kallmann syndrome are not accompanied by impaired sense of smell, the condition is referred to as idiopathic or isolated hypogonadotropic hypogonadism, or normosmic isolated GnRH deficiency (IGD).
*[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
|
Kallmann syndrome
|
c0162809
| 28,337 |
gard
|
https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome
| 2021-01-18T17:59:38 |
{"mesh": ["D017436"], "orphanet": ["478"], "synonyms": ["Kallmann's syndrome", "Anosmic hypogonadism", "Anosmic idiopathic hypogonadotropic hypogonadism", "Hypogonadotropic hypogonadism and anosmia", "Hypogonadotropic hypogonadism-anosmia syndrome", "Dysplasia olfactogenitalis of De Morsier (formerly)", "Olfacto-genital pathological sequence"]}
|
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
## Epidemiology
It has been reported in four unrelated patients.
## Clinical description
The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.
## Etiology
This microdeletion was identified by array CGH (comparative genomic hybridization).
*[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
|
1q44 microdeletion syndrome
|
c4304540
| 28,338 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238769
| 2021-01-23T19:09:56 |
{"gard": ["10943"], "icd-10": ["Q93.5"], "synonyms": ["Del(1)(q44)", "Monosomy 1q44"]}
|
Transfusion associated circulatory overload
Other namesTACO[1]
SpecialtyHematology
In transfusion medicine, transfusion associated circulatory overload (aka TACO) is a transfusion reaction (an adverse effect of blood transfusion) that can occur due to a rapid transfusion of a large volume of blood, but can also occur during a single red cell transfusion (about 15% of cases).[2] The fluid volume causes hypervolemia.
## Contents
* 1 Symptoms and signs
* 2 Risk factors
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Prevention
* 5 Management
* 6 Occurrence
* 7 References
* 8 External links
## Symptoms and signs[edit]
The primary symptoms of TACO are dyspnea, orthopnea, peripheral edema, and rapid increase of blood pressure.[3] TACO must be suspected when there is respiratory distress with other signs, including pulmonary edema, unanticipated cardiovascular system changes, and evidence of fluid overload (including improvement after diuretic, morphine or nitrate treatment), during or up to 24 hours after transfusion.[2]
## Risk factors[edit]
* Low albumin[4]
* Cardiovascular disease[5][6]
* Kidney disease[5][6]
* Lung disease[5]
* Severe anemia[5]
* Age (less than 3 years old and over 60 years old)[4]
## Diagnosis[edit]
The International Society of Blood Transfusion (ISBT) working party on hemovigilance in collaboration with the International Haemovigilance Network (IHN) and AABB produced new reporting criteria in 2018.[5]
Patients classified with TACO should have acute onset or worsening respiratory distress or evidence of pulmonary edema, or both during or up to 12 hours after transfusion. They should have at least 3 of the following characteristics:
* Acute or worsening respiratory distress (tachypnoea, shortness of breath, cyanosis, and decreased oxygen saturations) in the absence of other causes
* Evidence of acute or worsening pulmonary edema (by physical examination, or chest imaging, or other non-invasive assessment of heart function e.g. echocardiogram)
* Evidence of unanticipated cardiovascular system changes (tachycardia, hypertension, widened pulse pressure, jugular venous distension, peripheral edema)
* Evidence of fluid overload (positive fluid balance, response to diuretic therapy with clinical improvement, change in the patient’s weight in the peri-transfusion period)
* Changes in a relevant biomarker e.g. elevation in natriuretic peptide (NP) levels (e.g. brain-natriuretic peptide (BNP), N-terminal (NT)-pro BNP) to greater than 1.5 times the pre-transfusion value.
### Differential diagnosis[edit]
TACO and TRALI are both respiratory complications following a transfusion.[2] TACO and transfusion related acute lung injury (TRALI) are often difficult to distinguish in the acute situation. TACO is usually associated with hypertension and responds well to diuretics, TRALI is often associated with hypotension and diuretics have a minimal effect.[7][8][5] A normal natriuretic peptide level post-transfusion is seen with TRALI but not with TACO.
## Prevention[edit]
Transfusion associated circulatory overload is prevented by avoiding unnecessary transfusions, closely monitoring patients receiving transfusions, transfusing smaller volumes of blood at a slower rate, and considering the use of diuretics.[3][2] A pre-transfusion TACO checklist can be used to assess patients' risk of developing TACO.[2][4]
## Management[edit]
If TACO is suspected stop the transfusion. Treat with oxygen, diuretics, and other treatments for cardiac failure.
## Occurrence[edit]
It is difficult to determine the incidence of TACO, but its incidence is estimated at about one in every 100 transfusions using active surveillance,[9][10] and in one in every 10000 transfusions using passive surveillance.[9] TACO is the most commonly reported cause of transfusion-related death and major morbidity in the UK,[2] and second most common cause in the USA.[11]
The risk increases with patients over the age of 60, patients with cardiac or pulmonary failure, renal impairment, hypoalbuminemia or anemia. [3][2]
## References[edit]
1. ^ Agnihotri, Naveen; Agnihotri, Ajju (2014). "Transfusion associated circulatory overload". Indian Journal of Critical Care Medicine. 18 (6): 396–398. doi:10.4103/0972-5229.133938. PMC 4071685. PMID 24987240.
2. ^ a b c d e f g Bolton-Maggs, Paula (Ed); Poles, D; et al, on behalf of the Serious Hazards of Transfusion (SHOT) Steering Group (2017). The 2016 Annual SHOT Report (2017) (PDF). Serious Hazards of Transfusion (SHOT). ISBN 978-0-9558648-9-6.CS1 maint: extra text: authors list (link)
3. ^ a b c Noninfectious Adverse Events of Transfusion - Transfusion Transmitted Injuries Section - Blood Safety Surveillance and Health Care Acquired Infections Division - Public Health... Archived 2008-06-20 at the Wayback Machine
4. ^ a b c Bolton-Maggs, PHB; Poles, D, eds. (2018). "The 2017 Annual SHOT Report (2018)" (PDF). Cite journal requires `|journal=` (help)
5. ^ a b c d e f "Transfusion-associated circulatory overload (TACO)(2018)" (PDF). ISBT. Retrieved 24 June 2019.
6. ^ a b Clifford, Leanne; Jia, Qing; Subramanian, Arun; Yadav, Hemang; Schroeder, Darrell R.; Kor, Daryl J. (March 2017). "Risk Factors and Clinical Outcomes Associated with Perioperative Transfusion-associated Circulatory Overload". Anesthesiology. 126 (3): 409–418. doi:10.1097/ALN.0000000000001506. PMC 5309147. PMID 28072601.
7. ^ Popovsky, M. A. (September 2006). "Transfusion-related acute lung injury and transfusion-associated circulatory overload". ISBT Science Series. 1 (1): 107–111. doi:10.1111/j.1751-2824.2006.00046.x.
8. ^ Skeate, Robert C; Eastlund, Ted (November 2007). "Distinguishing between transfusion related acute lung injury and transfusion associated circulatory overload". Current Opinion in Hematology. 14 (6): 682–687. doi:10.1097/MOH.0b013e3282ef195a. PMID 17898575.
9. ^ a b Raval, J. S.; Mazepa, M. A.; Russell, S. L.; Immel, C. C.; Whinna, H. C.; Park, Y. A. (May 2015). "Passive reporting greatly underestimates the rate of transfusion-associated circulatory overload after platelet transfusion". Vox Sanguinis. 108 (4): 387–392. doi:10.1111/vox.12234. PMID 25753261.
10. ^ Clifford, Leanne; Jia, Qing; Yadav, Hemang; Subramanian, Arun; Wilson, Gregory A.; Murphy, Sean P.; Pathak, Jyotishman; Schroeder, Darrell R.; Ereth, Mark H.; Kor, Daryl J. (January 2015). "Characterizing the Epidemiology of Perioperative Transfusion-associated Circulatory Overload". Anesthesiology. 122 (1): 21–28. doi:10.1097/ALN.0000000000000513. PMC 4857710. PMID 25611653.
11. ^ "Fatalities Reported to FDA Following Blood Collection and Transfusion Annual Summary for Fiscal Year 2015". FDA. Retrieved July 17, 2017.
## External links[edit]
Classification
D
* ICD-10: T80.8
* v
* t
* e
Blood transfusion and transfusion medicine
Blood products
* Whole blood
* Platelets
* Platelet transfusion
* Red blood cells
* Plasma
* Fresh frozen plasma
* PF24
* Cryoprecipitate
* Cryosupernatant
* White blood cells
* Granulocyte transfusion
* Blood substitutes
General concepts
* Blood donation
* Methods
* Apheresis (plasmapheresis, plateletpheresis, leukapheresis)
* Exchange transfusion
* Intraoperative blood salvage
* Tests
* Blood typing
* Cross-matching
* Coombs test
* Blood bank
* International Society of Blood Transfusion
* ISBT 128
Transfusion reactions
and adverse effects
* Transfusion hemosiderosis
* Transfusion related acute lung injury
* Transfusion associated circulatory overload
* Transfusion-associated graft versus host disease
* Febrile non-hemolytic transfusion reaction
* Hemolytic reaction
* acute
* delayed
* Serum sickness
* Transfusion transmitted infection
Blood group systems
* Blood types
* ABO
* Secretor status
* Augustine
* CD59
* Chido-Rodgers
* Colton
* Cromer
* Diego
* Dombrock
* Duffy
* Er
* FORS
* Gerbich
* GIL
* GLOB
* Hh
* Ii
* Indian
* JR
* JMH
* KANNO
* Kell (Xk)
* Kidd
* Knops
* Lan
* Lewis
* Lutheran
* LW
* MNS
* OK
* P
* Raph
* Rh and RHAG
* Scianna
* Sid
* T-Tn
* Vel
* Xg
* Yt
* Other
*[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
|
Transfusion associated circulatory overload
|
c2921022
| 28,339 |
wikipedia
|
https://en.wikipedia.org/wiki/Transfusion_associated_circulatory_overload
| 2021-01-18T18:40:13 |
{"mesh": ["D065227"], "wikidata": ["Q17126040"]}
|
"AION" redirects here. For other uses, see Aion (disambiguation).
Anterior ischemic optic neuropathy
SpecialtyOphthalmology, optometry
Anterior ischemic optic neuropathy (AION) is a medical condition involving loss of vision caused by damage to the optic nerve as a result of insufficient blood supply (ischemia). This form of ischemic optic neuropathy is generally categorized as two types: arteritic AION (or AAION), in which the loss of vision is the result of an inflammatory disease of arteries in the head called temporal arteritis, and non-arteritic AION (abbreviated as NAION, or sometimes simply as AION), which is due to non-inflammatory disease of small blood vessels.[1]
## Contents
* 1 Symptoms
* 2 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 Incidence
* 6 References
* 7 Further reading
* 8 External links
## Symptoms[edit]
NAION typically presents suddenly upon awakening. The afflicted person notes seeing poorly in one eye. Vision in that eye is obscured by a dark shadow, often involving just the upper or lower half of vision, usually the area closer to the nose. There is no pain. Within approximately six months following the infarct, visual acuity improves by three or more lines of vision on the Snellen Chart (the chart with smaller letters on each lower line) in 42.7% of patients, while in 12.4% of patients, vision worsens by three lines. Opposite eye involvement occurs in approximately 15% to 20% of patients with NAION within 5 years.[2] It is not always devastating as visual acuity may remain only moderately impaired. Furthermore, most cases of NAION involve the loss of a hemifield (either the upper or lower half of the visual field, but not both). A few cases of NAION involve near-total loss of vision.[citation needed]
## Risk factors[edit]
The mechanism of injury for NAION used to be quite controversial. However, experts in the field have come to a consensus that most cases involve two main risk factors. The first is a predisposition in the form of a type of optic disc shape. The optic disc is where the axons from the retinal ganglion cells collect into the optic nerve. The optic nerve is the bundle of axons that carry the visual signals from the eye to the brain. This optic nerve must penetrate through the wall of the eye, and the hole to accommodate this is usually 20-30% larger than the nerve diameter. In some patients the optic nerve is nearly as large as the opening in the back of the eye, and the optic disc appears "crowded" when seen by ophthalmoscopy. A crowded disc is also referred to as a "disc at risk". While a risk factor, the vast majority of individuals with crowded discs do not experience NAION.[citation needed]
The second major risk factor involves more general cardiovascular risk factors. The most common are diabetes, hypertension and high cholesterol levels. While these factors predispose a patient to develop NAION, the most common precipitating factor is marked fall of blood pressure during sleep (nocturnal arterial hypotension)- that is why at least 75% of the patients first discover visual loss first on waking from sleep. These vascular risk factors lead to ischemia (poor blood supply) to a portion of the optic disc. The disc then swells, and in a crowded optic disc, this leads to compression and more ischemia.[citation needed]
Since both eyes tend to have a similar shape, the optometrist or ophthalmologist will look at the good eye to assess the anatomical predisposition. The unaffected eye has a 14.7% risk of NAION within five years.[3]
A number of uncontrolled single case or small number of patient reports have associated NAION with use of oral erectile dysfunction drugs.[4][5][6][7][8][9]
## Diagnosis[edit]
Since arteritic AION is similar in presentation to non-arteritic AION, patients over the age of 50 diagnosed with NAION must be evaluated to exclude AAION (symptoms: painful jaw muscle spasms, scalp tenderness, unintentional weight loss, fatigue, myalgias and loss of appetite); NAION patients over the age of 75 should always be tested.[citation needed]
The distinction between AAION and non-arteritic AION was made to highlight the different etiologies of anterior ischemic optic neuropathy. AAION is due to temporal arteritis (also called giant-cell arteritis), an inflammatory disease of medium-sized blood vessels (Chapel-Hill-Conference) that occurs especially with advancing age. In contrast, NAION results from the coincidence of cardiovascular risk factors in a patient with "crowded" optic discs. Non-arteritic AION is more common than AAION and usually occurs in slightly younger persons. While only a few cases of NAION result in near total loss of vision, most cases of AAION result in nearly complete vision loss.[citation needed]
Nonarteritic anterior ischemic optic neuropathy is an isolated white-matter stroke of the optic nerve (ON). NAION is the most common cause of sudden optic nerve-related vision loss, affecting more than 10,000 Americans every year, often bilaterally. No clinically effective treatments exist, largely because little is known about its pathophysiology, and there are few histopathological studies of the acute condition.[10]
An exhaustive review article published in March 2009 described the latest information on arteritic and non-arteritic ischemic optic neuropathy, both anterior (A-AION and NA-AION) and posterior (A-PION, NA-PION, and surgical).[11]
## Treatment[edit]
Once NAION happens, it was thought that there was no accepted treatment to reverse the damage. However, a recent uncontrolled retrospective large study has shown that if patients are treated with large doses of corticosteroid therapy during the early stages of NAION, in eyes with initial visual acuity of 20/70 or worse, seen within 2 weeks of onset, there was visual acuity improvement in 70% in the treated group compared to 41% in the untreated group (odds ratio of improvement: 3.39; 95% CI:1.62, 7.11; p ¼ 0.001).[12] That study and a natural history study on NAION (Ophthalmology 2008;115: 298–305.) showed that visual acuity can improve up to 6 months and not after that. To minimize the risk of further visual loss in the fellow eye or the same eye, it is essential to reduce the risk factors. Common sense dictates trying to control the cardiovascular risk factors for many reasons, including protection from this happening to the second eye. Sudden vision loss should lead to an ophthalmological consultation. If NAION is suspected, then ideally a neuro-ophthalmologist's consultation should be obtained.[citation needed]
A recent Cochrane Review sought to determine the extent of safety and efficacy of optic nerve decompression surgery for NAION, compared to other treatments, or no treatment.[13] The one study included in the review found no improvements in visual acuity among patients who underwent surgery for NAION, and adverse events (pain, double vision) experienced by participants who underwent surgery.[13]
There is much research currently underway looking at ways to protect the nerve (neuroprotection) or even regenerate new fibers within the optic nerve.[14][15][16][17][18] So far there is no evidence in human studies that the so-called neuroprotectors have any beneficial effect in NAION. However, there is a new current clinical trial for the treatment of NAION in the United States with plans to include sites in India, Israel, Germany and Australia (see NORDICclinicaltrials.com and https://clinicaltrials.gov/). This trial will test the use of a synthetic siRNA that blocks caspase 2, an important enzyme in the apoptosis cycle.[19] In addition to such research, patents have been applied for by Pfizer, The University of Southern California, Otsuka Pharmaceutical and other individual inventors for innovations related to the treatment of anterior ischemic optic neuropathy.[20]
## Incidence[edit]
It is estimated that the incidence of AION in the US is about 8,000 persons per year.[21]
## References[edit]
1. ^ Atkins, EJ; Bruce, BB; Newman, NJ; Biousse, V (2010). "Treatment of nonarteritic anterior ischemic optic neuropathy". Survey of Ophthalmology. 55 (1): 47–63. doi:10.1016/j.survophthal.2009.06.008. PMC 3721361. PMID 20006051.
2. ^ IONDT(The Ischemic Optic Neuropathy Decompression Trial) Study
3. ^ Newman NJ, Scherer R, Langenberg P, et al. (September 2002). "The fellow eye in NAION: report from the ischemic optic neuropathy decompression trial follow-up study". American Journal of Ophthalmology. 134 (3): 317–28. doi:10.1016/S0002-9394(02)01639-2. PMID 12208242.
4. ^ Pomeranz HD, Bhavsar AR (March 2005). "Nonarteritic ischemic optic neuropathy developing soon after use of sildenafil (viagra): a report of seven new cases". Journal of Neuro-Ophthalmology. 25 (1): 9–13. doi:10.1097/00041327-200503000-00003. PMID 15756125.
5. ^ Egan R, Pomeranz H (February 2000). "Sildenafil (Viagra) associated anterior ischemic optic neuropathy". Archives of Ophthalmology. 118 (2): 291–2. PMID 10676804.
6. ^ Pomeranz HD, Smith KH, Hart WM, Egan RA (March 2002). "Sildenafil-associated nonarteritic anterior ischemic optic neuropathy". Ophthalmology. 109 (3): 584–7. CiteSeerX 10.1.1.616.3702. doi:10.1016/S0161-6420(01)00976-9. PMID 11874765.
7. ^ Cunningham AV, Smith KH (March 2001). "Anterior ischemic optic neuropathy associated with viagra". Journal of Neuro-Ophthalmology. 21 (1): 22–5. doi:10.1097/00041327-200103000-00006. PMID 11315976.
8. ^ Boshier A, Pambakian N, Shakir SA (September 2002). "A case of nonarteritic ischemic optic neuropathy (NAION) in a male patient taking sildenafil". International Journal of Clinical Pharmacology and Therapeutics. 40 (9): 422–3. doi:10.5414/cpp40422. PMID 12358159.
9. ^ Akash R, Hrishikesh D, Amith P, Sabah S (August 2005). "Case report: association of combined nonarteritic anterior ischemic optic neuropathy (NAION) and obstruction of cilioretinal artery with overdose of Viagra". Journal of Ocular Pharmacology and Therapeutics. 21 (4): 315–7. doi:10.1089/jop.2005.21.315. PMID 16117695.
10. ^ Tesser RA, Niendorf ER, Levin LA (October 2003). "The morphology of an infarct in nonarteritic anterior ischemic optic neuropathy". Ophthalmology. 110 (10): 2031–5. doi:10.1016/S0161-6420(03)00804-2. PMID 14522783.
11. ^ Hayreh SS (March 1999). "Retinal and optic nerve head ischemic disorders and atherosclerosis: role of serotonin". Progress in Retinal and Eye Research. 18 (2): 191–221. doi:10.1016/S1350-9462(98)00016-0. PMID 9932283.
12. ^ Hayreh SS, Zimmerman MB (July 2008). "Non-arteritic anterior ischemic optic neuropathy: role of systemic corticosteroid therapy". Graefe's Archive for Clinical and Experimental Ophthalmology. 246 (7): 1029–46. doi:10.1007/s00417-008-0805-8. PMC 2712323. PMID 18404273.
13. ^ a b Dickersin K, Li T (2015). "Surgery for nonarteritic anterior ischemic optic neuropathy". Cochrane Database Syst Rev. 3 (3): CD001538. doi:10.1002/14651858.CD001538.pub4. PMC 4439207. PMID 25763979.
14. ^ Bernstein SL, Guo Y, Kelman SE, Flower RW, Johnson MA (October 2003). "Functional and cellular responses in a novel rodent model of anterior ischemic optic neuropathy". Investigative Ophthalmology & Visual Science. 44 (10): 4153–62. doi:10.1167/iovs.03-0274. PMID 14507856. Archived from the original on 2014-06-05.
15. ^ Bernstein SL, Guo Y, Slater BJ, Puche A, Kelman SE (May 2007). "Neuron stress and loss following rodent anterior ischemic optic neuropathy in double-reporter transgenic mice". Investigative Ophthalmology & Visual Science. 48 (5): 2304–10. doi:10.1167/iovs.06-0486. PMID 17460295.
16. ^ Bernstein SL, Koo JH, Slater BJ, Guo Y, Margolis FL (2006). "Analysis of optic nerve stroke by retinal Bex expression". Molecular Vision. 12: 147–55. PMID 16541015.
17. ^ Goldenberg-Cohen N, Guo Y, Margolis F, Cohen Y, Miller NR, Bernstein SL (August 2005). "Oligodendrocyte dysfunction after induction of experimental anterior optic nerve ischemia". Investigative Ophthalmology & Visual Science. 46 (8): 2716–25. doi:10.1167/iovs.04-0547. PMID 16043843.
18. ^ Bernstein SL, Mehrabyan Z, Guo Y, Moianie N (2007). "Estrogen is not neuroprotective in a rodent model of optic nerve stroke". Molecular Vision. 13: 1920–5. PMC 2185481. PMID 17982415.[permanent dead link]
19. ^ Ahmed, Z.; Kalinski, H.; Berry, M.; Almasieh, M.; Ashush, H.; Slager, N.; Brafman, A.; Spivak, I.; Prasad, N. (2011-06-16). "Ocular neuroprotection by siRNA targeting caspase-2". Cell Death & Disease. 2 (6): e173. doi:10.1038/cddis.2011.54. PMC 3168996. PMID 21677688.
20. ^ Patents related to treatment of anterior ischemic optic neuropathy Archived 2015-09-24 at the Wayback Machine[unreliable source?]
21. ^ Hattenhauer MG, Leavitt JA, Hodge DO, Grill R, Gray DT (January 1997). "Incidence of nonarteritic anterior ischemic optic neuropathy". American Journal of Ophthalmology. 123 (1): 103–7. doi:10.1016/s0002-9394(14)70999-7. PMID 9186104.
## Further reading[edit]
* Sohan Singh Hayreh: Ischemic Optic Neuropathies. Springer, 2011. ISBN 978-3-642-11849-4 (Print); ISBN 978-3-642-11852-4 (eBook)
## External links[edit]
Classification
D
* ICD-10: H47.0
* ICD-9-CM: 377.41
* OMIM: 258660
* MeSH: D018917
* DiseasesDB: 31309
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[LSS]: lumbar spinal stenosis
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*[E2]: estradiol
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*[NSAAs]: nonsteroidal antiandrogens
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*[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
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*[[*]]: Article is not yet available in this wiki.
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*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
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*[transl.]: translation
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|
Anterior ischemic optic neuropathy
|
c0155305
| 28,340 |
wikipedia
|
https://en.wikipedia.org/wiki/Anterior_ischemic_optic_neuropathy
| 2021-01-18T18:30:36 |
{"gard": ["9790"], "mesh": ["D018917"], "umls": ["C0155305"], "wikidata": ["Q362719"]}
|
A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome (chrX:135.6-136.1, GRCh37).
Description
X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; 139250) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).
Clinical Features
Bergamaschi et al. (2010) reported the clinical features of a 3.4-year-old girl with gigantism due to a growth hormone/prolactin-secreting adenoma.
Glasker et al. (2011) reported a mother and 2 sons with early-onset gigantism and high levels of growth hormone and prolactin. The mother and older son had pituitary adenoma, while the younger son had diffuse hyperplasia of mammosomatotrophs with no evidence of adenoma. The mother had been reported by Espiner et al. (1981) as 'the youngest example of verified pituitary gigantism on record.'
Trivellin et al. (2014) studied 43 patients with nonsyndromic gigantism without abnormalities in genes associated with pituitary tumors. Genetic analyses delineated 2 phenotypes: an early-childhood form of gigantism with a typical onset in late infancy, and a second form with a typical onset in adolescence. Microduplications on chromosome Xq26.3 were detected in 14 patients (including the patients reported by Bergamaschi et al. (2010) and Glasker et al. (2011)) with the early-childhood form; 5 patients, including 1 mother who was deceased, were from 2 unrelated kindreds, and 9 patients were sporadic cases. The median age of onset for patients carrying the microduplication was 1 year, with a range of 0.5 to 2 years. The median age at diagnosis was 3 years, with a range of 1 to 22 years. Median height at diagnosis was 116 cm (+3.8 SD, range = +1.9 to +7.1 SD). All had elevated levels of growth hormone and insulin-like growth factor-1 (IGF1; 147440) at diagnosis; none showed suppression of growth hormone during oral glucose tolerance test. Ninety-three percent showed elevated prolactin (176760) levels at diagnosis. Ten patients had adenoma only; 2 patients had both adenoma and hyperplasia; and 1 had hyperplasia only. Ten of the 14 patients with microduplication were female and were of normal size at birth. Precocious puberty was not observed in microduplication carriers. Hormonal control was not achieved in any of the patients by medical therapy alone. Such control required either radical or repeated neurosurgery alone alone (in 4 patients) or in combination with the administration of the growth hormone receptor antagonist pegvisomant (in 3 patients) or radiotherapy (in 2 patients). Seven patients had permanent hypopituitarism at the time of the study.
Beckers et al. (2015) reported 18 patients with XLAG syndrome, including 13 previously studied by Trivellin et al. (2014). There were 2 families with 3 and 2 affected members, and 13 sporadic cases. All patients had pituitary abnormalities at diagnosis, 14 of which appeared to be a macroadenoma on MRI, whereas the remaining cases showed pituitary enlargement without an identifiable adenoma. Tumor extension to the optic chiasm was frequent (12 cases), whereas invasion of the cavernous sinus was present in only 2 patients at diagnosis. Beckers et al. (2015) stated that a unifying feature of XLAG syndrome is the strikingly early age at onset, given that the children appear clinically normal at birth.
Pathogenesis
Daly et al. (2016) analyzed tissue from a pituitary tumor resected from a 2-year-old girl with XLAG syndrome. The tumor was determined to be a combination of extensive GH/prolactin-positive hyperplasia of the anterior pituitary with an atypical mixed GH/prolactin adenoma, and staining for somatostatin receptor subtypes 2 (SSTR2; 182452) and 5 (SSTR5; 182455) was moderate to high. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Coincubation with GHRH and a GHRH receptor antagonist blocked the GHRH-induced GH stimulation, and the GHRH receptor antagonist alone significantly reduced GH release. The multi-receptor somatostatin analog pasireotide, but not octreotide, which mainly targets SSTR2, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. Daly et al. (2016) concluded that GHRH hypersecretion can accompany the pituitary abnormalities seen in XLAG syndrome, and suggested that the pathology of the disorder may include hypothalamic dysregulation of GHRH secretion, consistent with localization of GPR101 (300393) in the hypothalamus.
Iacovazzo et al. (2016) studied 12 patients with XLAG, including 10 female patients with germline duplications and 2 male patients who exhibited mosaicism for duplications at Xq26.3 (see CYTOGENETICS). In 9 (75%) of the patients, macroadenomas were present, all of which showed suprasellar extension. However, MRI in 3 (25%) of the patients showed diffuse enlargement of the gland, suggestive of pituitary hyperplasia rather than a distinct adenoma. The authors noted that features of the XLAG-related pituitary adenomas were remarkably similar, with most patients developing mixed somatotroph/lactotroph adenomas showing a characteristic sinusoidal and lobular architecture and containing both densely granulated and sparsely granulated somatotroph cells. Microcalcifications and follicle-like structures were common, and mitotic activity was generally low.
### Somatic Mosaicism
Daly et al. (2016) studied 18 patients with XLAG, including 15 previously reported patients (Trivellin et al., 2014; Beckers et al., 2015; Naves et al., 2016). The patients' duplications were all unique, ranging in size from 554 to 674 kb, with variable boundaries; all included the GPR101 gene. High-density array comparative genomic hybridization revealed decreased log(2) ratios in all 6 male patients, consistent with somatic mosaicism, whereas none of the female XLAG patients showed evidence of mosaicism. The levels of duplication were lower in 3 sporadic cases than in 3 familial cases. Quantitative droplet digital PCR (ddPCR) confirmed low-level mosaicism in the sporadic cases (approximately 59%, 29%, and 18%, respectively) compared to the familial cases, in whom the mosaicism level was intermediate between that of the sporadic cases and the lack of mosaicism in the female XLAG patients. Daly et al. (2016) concluded that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at Xq26.3 in male patients. Noting that the clinical characteristics of the disease were similarly severe in both sexes, they suggested that the impact of X-chromosome inactivation in female XLAG patients should be considered.
Clinical Management
Beckers et al. (2015) analyzed the clinical management of 18 patients with XLAG syndrome, including 13 previously studied by Trivellin et al. (2014), noting that although somatostatin analogs (SSAs) are the mainstay of medical treatment of GH excess, their efficacy is poor in the setting of XLAG. None of the patients achieved primary or secondary control of their disease or GH/IGF1 secretion with SSAs, even when using adult doses in young children. Beckers et al. (2015) stated that the poor SSA response was not due to low expression of somatostatin receptors, since analysis of the 6 cases in which there was adequate tissue for immunohistochemistry demonstrated moderate to high expression of SSTR2, the main target of octreotide and lanreotide, the SSAs administered to these patients. In addition, 5 of the 6 tumors stained positively for SSTR5, 4 showed high expression of SSTR3 (182453), and 3 were also positive for SSTR1 (182451). Neurosurgery was performed or planned in all cases, but was frequently associated with significant pituitary dysfunction, including GH deficiency. Conversely, very small residual tumor was capable of maintaining levels of GH/IGF1 above normal for many years, thereby necessitating chronic medical therapy. However, these residual tumor tissues did not regrow significantly, which Beckers et al. (2015) suggested might be due to the low proliferative index observed in most cases.
Naves et al. (2016) reported an 11.5-year-old boy with XLAG, in whom excessive growth was established by 2.5 years of age. He was diagnosed with pituitary gigantism at 5.75 years of age, at which time MRI showed a very large intra- and suprasellar mass with compression of the chiasma but no cavernous sinus invasion. The family declined treatment and the patient was lost to follow-up, until he presented again at age 10.5 years with headaches, seizures, and visual disturbances. Visual examination showed bitemporal hemianopsia. He had GH/IGF1 hypersecretion, marked hyperprolactinemia, and hypopituitarism of the thyrotrope, corticotrope,and gonadotrope axes. Repeat MRI showed an invasive intra- and suprasellar mass that had grown markedly, with compression of optic chiasma, cystic degeneration of the suprasellar portion, bilateral cavernous sinus invasion, and encasement of the internal carotid arteries, as well as hydrocephalus. Despite debulking and treatment with SSAs, GH levels remained elevated, IGF1 was in the high normal range, and his vertical growth continued; further resection and radiotherapy were planned. Immunohistochemical analysis confirmed the tumor as a typical XLAG mixed GH- and PRL-secreting adenoma; however, Ki-67 (see 176741) was 3.5% and there were more than 2 mitoses per high-powered field, indicating higher proliferation than in other XLAG syndrome cases. Naves et al. (2016) stated that this case illustrated the aggressive nature of tumor evolution and the challenging clinical management in XLAG syndrome, emphasizing the importance of early intervention.
Inheritance
Trivellin et al. (2014) reported 1 family with familial isolated pituitary adenomas that included an affected mother and 2 affected sons, described previously by Glasker et al. (2011), who carried the same Xq26.3 microduplication; the unaffected father did not have the duplication. In another family with this condition, the mother had childhood-onset gigantism and a histologically confirmed pituitary macroadenoma but had died of complications of hypopituitarism. She had 2 children: the son carried the Xq26.3 microduplication and had childhood-onset gigantism, and the healthy daughter did not have the duplication. Trivellin et al. (2014) concluded that Xq26.3 microduplications can be a pathogenic explanation in kindreds with familial isolated pituitary adenomas and acrogigantism without AIP (605555) mutations.
Cytogenetics
Using array comparative genomic hybridization, Trivellin et al. (2014) found 10 different microduplications of chromosome Xq26.3 in 12 patients with familial or sporadic gigantism. All sporadic duplications were nonrecurrent. The same duplication was transmitted from an affected mother to her 2 affected offspring. The common duplicated genomic segment was approximately 500 kb in length, from position 135,627,637 to 136,118,269 (GRCh37). One patient had a complex genomic rearrangement with 2 duplicated segments that were separated by a short region of genomic sequence. This allowed the delineation of 2 smallest regions of overlap (SROs), one (SRO1) a 359-kb region (chrX:135,627,637-135,986,830, GRCh37) that encompasses 3 genes (CD40LG, 300386; ARHGEF6, 300267; and RBMX, 300199) and the other (SRO2) a 73-kb region (chrX:136,045,310-136,118,269, GRCh37) encompassing the GPR101 gene (300393). Of all the genes in the duplicated segments, only GPR101 had markedly increased expression in the pituitary tumors of patients carrying the microduplication.
From a cohort of 153 patients diagnosed with pituitary gigantism, Iacovazzo et al. (2016) identified 12 patients with microduplications at Xq26.3, including 10 female patients with germline duplications, 1 of whom (case IV) was originally described by Moran et al. (1990). In addition, 2 male patients harbored a duplication in mosaic state, 1 of whom (case IX) was previously reported by Rodd et al. (2016). In 7 of the patients, the CNVs encompassed 4 genes (CD40LG, ARHGEF6, RBMX, and GPR101), but in 1 patient (case I), the distal duplication narrowed the smallest region of overlap to an interval encompassing only the GPR101 gene. Most of the duplications occurred due to the fork-stalling and template-switching/microhomology-mediated break-induced replication mechanism, but in 1 patient (case III) the duplication was generated via an Alu-Alu mediated rearrangement. There was no history of pituitary disease in any of the families, and in the 4 germline cases in which DNA samples were available from both parents, the duplication was shown to have arisen de novo in the proband. The authors concluded that GPR101 is the causative gene in the Xq26.3 region, since duplication of GPR101 alone was sufficient to cause the XLAG phenotype.
INHERITANCE \- X-linked dominant GROWTH Height \- Tall stature (+3.4 SD) \- Increased height velocity (+6.1 SD) Weight \- Increased weight HEAD & NECK Face \- Coarse facies \- Acromegaly Teeth \- Widening of interdental spaces CARDIOVASCULAR Heart \- Ventricular hypertrophy, mild (noted in 1 patient) RESPIRATORY Nasopharynx \- Sleep apnea \- Snoring ABDOMEN Gastrointestinal \- Increased appetite SKELETAL \- Advanced bone age Hands \- Large hands Feet \- Large feet SKIN, NAILS, & HAIR Skin \- Acanthosis nigricans \- Skin thickening NEUROLOGIC Central Nervous System \- Pituitary adenoma ENDOCRINE FEATURES \- Increased sweating at early age \- Prominent body odor \- Elevated growth hormone (GH) levels \- Elevated IGF1 levels \- Elevated prolactin levels \- Pituitary adenoma MISCELLANEOUS \- Onset of overgrowth in the first year of life (in most cases) \- Onset of overgrowth in second to third month of life (in some cases) MOLECULAR BASIS \- Caused by contiguous gene duplication (chrX:135.6-136.1, GRCh37) on Xq26.3 ▲ 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
|
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
|
c3891556
| 28,341 |
omim
|
https://www.omim.org/entry/300942
| 2019-09-22T16:19:15 |
{"omim": ["300942"], "orphanet": ["300373", "448372"], "synonyms": ["Familial infantile gigantism due to Xq26 microduplication", "Familial infantile gigantism due to dup(X)q(26)", "Alternative titles", "Infantile gigantism due to pituitary hyperplasia", "X-LAG (X-linked acrogigantism) due to dup(X)q(26)", "X-LINKED ACROGIGANTISM", "X-LAG (X-linked acrogigantism)", "CHROMOSOME Xq26 MICRODUPLICATION SYNDROME", "Hereditary pituitary hyperplasia", "Hereditary infantile gigantism"], "genereviews": ["NBK476671"]}
|
A number sign (#) is used with this entry because mucolipidosis III gamma is caused by mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase (GNPTG; 607838).
Mucolipidosis II alpha/beta, or I-cell disease (252500), and mucolipidosis III alpha/beta, or pseudo-Hurler polydystrophy (252600), are related disorders caused by mutations in the GNPTAB gene (607840), encoding the alpha and beta subunits of the N-acetylglucosamine-1-phosphotransferase.
Description
Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by Raas-Rothschild et al., 2000).
Nomenclature
Cathey et al. (2008) reported an updated nomenclature classification system for mucolipidosis II and III. ML II was renamed ML II alpha/beta; ML IIIA was renamed ML III alpha/beta; and ML IIIC was renamed ML III gamma.
Clinical Features
Encarnacao et al. (2009) reported a Portuguese patient with mucolipidosis III gamma. He had a relatively mild phenotype with onset at age 10 years, no psychomotor retardation, and survival into adulthood.
Pohl et al. (2010) reported 2 Afghan sisters and a brother, born of consanguineous parents, with mucolipidosis III gamma. All presented at about 7 years of age with progressive joint pain and stiffness, especially affecting the fingers, hip, and spine. All had myopia, but hearing and intelligence were normal. The 2 girls had short stature, but their brother had normal height. Physical examination of all 3 sibs as teenagers showed short neck, hyperlordosis of the spine, short trunks, genu valgum, flat feet, and reduced joint mobility and contractures of the shoulders, spine, and fingers. Radiographs showed signs of spondyloepiphyseal dysplasia. Cultured fibroblasts derived from the brother showed reduced activities (30 to 50%) of lysosomal enzymes compared to controls. Radiolabeling of the lysosomal enzyme cathepsin D showed that patient fibroblasts had decreased levels of newly synthesized protein, and that most (70%) of the newly synthesized protein was missorted into the medium and not targeted to lysosomes. There were also low levels of mannose-6-phosphate (M6P)-containing proteins in fibroblasts extracts. Genetic analysis identified a homozygous mutation in the GNPTG gene (607838.0009).
Biochemical Features
Complementation studies by Shows and coworkers (Honey et al., 1982; Shows et al., 1982; Mueller et al., 1983) indicated the presence of a single complementation group in mucolipidosis II (252500) and 3 distinct complementation groups among patients with mucolipidosis III. Complementation group A was identical with mucolipidosis II, i.e., there was no complementation of cell lines; complementation group B consisted of a single cell line; and complementation group C included the variant form described by Varki et al. (1981). The mutant enzymes on the 2 major complementation groups, A and C, differed from each other by the optimum temperature of enzymic activity (Little et al., 1986), by the susceptibility of the phosphorylation of mono- and oligosaccharide acceptors to inhibition by lysosomal enzyme preparations, and by their apparent molecular sizes. Ben-Yoseph et al. (1992) found that cultured skin fibroblasts from ML II and III patients who were designated as variants (1 of 4 ML II and 3 of 6 ML III patients) showed normal N-acetylglucosamine 1-phosphotransferase activity toward mono- and oligosaccharide acceptor substrates. Contrariwise, the activity toward natural lysosomal protein acceptors was absent or deficient in cell preparations from all patients with classic as well as variant forms of the 2 disorders. Complementation analysis showed that, while cell lines with variant ML III constituted a complementation group distinct from that of the classic forms of ML II and III, the variant ML II cell line belonged to the same complementation group as did the classic forms. In contrast to the mutant enzyme from variant ML III patients, which failed to recognize lysosomal proteins as the specific acceptor substrates, the activity toward alpha-methylmannoside in the variant ML II patient could be inhibited by exogenous lysosomal enzyme preparations. Ben-Yoseph et al. (1992) interpreted these findings as indicating that N-acetylglucosamine-1-phosphotransferase is composed of at least 2 distinct polypeptides: a recognition subunit that is defective in the ML III variant and a catalytic subunit that is deficient or altered in the classic forms of ML II and III as well as in the ML II variant. Bao et al. (1996, 1996) determined that bovine GNPTA is an alpha-2/beta-2/gamma-2 hexameric complex.
Mapping
In a large Druze family in which multiple members had ML IIIC, Raas-Rothschild et al. (2000) demonstrated linkage of the disorder to chromosome 16p13.3.
Molecular Genetics
By sequence analysis, Raas-Rothschild et al. (2000) identified a frameshift mutation in the GNPTG gene (607838.0001) in affected members of 3 families with ML IIIC. Raas-Rothschild et al. (2000) suggested that the gamma subunit functions in lysosomal hydrolase recognition.
In 10 patients from 7 families with mucolipidosis IIIC, Persichetti et al. (2009) identified 6 novel mutations in the GNPTG gene (see, e.g., 607838.0002-607838.0006).
In a Portuguese patient with mucolipidosis III gamma, Encarnacao et al. (2009) identified compound heterozygosity for 2 mutations in the GNPTG gene (607838.0007 and 607838.0008). Both GNPTG and GNPTAB mRNA transcripts were significantly decreased (10- and 2.4-fold, respectively) compared to controls. The authors suggested that the relatively mild phenotype could probably be explained by the fact that the gamma subunit does not contribute to the catalytic function of the enzyme.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Face \- Coarse face Eyes \- Fine corneal opacities \- Myopia Neck \- Short neck CARDIOVASCULAR Heart \- Aortic valve thickening \- Aortic regurgitation \- Aortic stenosis CHEST External Features \- Thoracic asymmetry Ribs Sternum Clavicles & Scapulae \- Pectus carinatum SKELETAL \- Dysostosis multiplex \- Joint stiffness, progressive \- Joint pain Spine \- Scoliosis \- Kyphosis \- Lordosis Pelvis \- Flared iliac wings \- Flattened proximal femoral epiphyses Limbs \- Shoulder stiffness \- Genu valgum Hands \- Hand stiffness \- Claw-hand deformity NEUROLOGIC Central Nervous System \- Mental retardation, mild (in some) LABORATORY ABNORMALITIES \- No mucopolysacchariduria \- Increased serum arylsulfatase A. \- Increased serum beta-hexosaminidase \- Increased serum alpha-mannosidase \- Increased serum iduronate sulfatase \- Decreased fibroblast arylsulfatase A \- Decreased fibroblast beta-hexosaminidase \- Decreased fibroblast alpha-mannosidase \- Decreased fibroblast iduronate sulfatase \- Decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc - phosphotransferase) using lysosomal enzymes \- Normal-to-slightly decreased GlcNAc phosphotransferase using artificial substrate (e.g., alpha-methylmannoside) MISCELLANEOUS \- MLIII is a heterogeneous disorder \- Complementation groups - complementation group A (classic MLIII, 252600 ) \- Complementation group B (represented by single atypical patient) \- Complementation group C (variant MLIII, 252605 ) MOLECULAR BASIS \- Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, gamma subunit gene (GNPTG, 607838.0001 ) ▲ 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
|
MUCOLIPIDOSIS III GAMMA
|
c0033788
| 28,342 |
omim
|
https://www.omim.org/entry/252605
| 2019-09-22T16:24:57 |
{"doid": ["0080071"], "mesh": ["D009081"], "omim": ["252605"], "orphanet": ["577", "423470"], "synonyms": ["Alternative titles", "ML III GAMMA", "MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C", "MUCOLIPIDOSIS IIIC", "ML IIIC", "MUCOLIPIDOSIS III, IRANIAN VARIANT FORM", "MUCOLIPIDOSIS III, VARIANT FORM"], "genereviews": ["NBK24701"]}
|
Nummular dermatitis
Other namesDiscoid dermatitis, Discoid eczema, Microbial eczema, Nummular eczema, Nummular neurodermatitis
Lesions visible on outer thigh
SpecialtyDermatology
Differential diagnosisDermatophytosis (Ringworm)
Nummular dermatitis is one of the many forms of dermatitis.[1] it is characterized by round or oval-shaped itchy lesions.[2] The name comes from the Latin word "nummus," which means "coin."
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Nummular dermatitis is characterized by chronic or relapsing itchy coin-sized ovoid-shaped red plaques.[3][4] They can occur on the trunk, limbs, face, and hands.[1][2][5]
## Causes[edit]
Many contact sensitizers or irritants are known to cause contact dermatitis superimposed on nummular dermatitis. Studies have implicated nickel, cobalt, chromate, and fragrance as likely culprits.[6][7] Xerosis, or dehydration of skin is also a likely cause.[8] Infection with Staphylococcus aureus bacteria or Candida albicans may also play a role.[8]
## Diagnosis[edit]
Diagnosis of nummular dermatitis is largely via clinical observation. Biopsies are typically not necessary, and cannot be used to rule out other atopic dermatitis or other eczemas.[9][10] However, patch testing may be employed to rule out irritants (contact dermatitis) as a cause.[6][11] In children, nummular dermatitis is commonly confused with tinea corporis.[8]
## Treatment[edit]
One of the keys to treatment and prevention involves keeping the skin moisturized. Lotions, creams, and bath oils may help prevent an outbreak. If the condition flares up, a common treatment involves the application of topical corticosteroids. Oral antihistamines may help lessen itching. Avoidance of irritants is a common strategy. More severe cases sometimes respond to ultraviolet light treatment. If the condition occurs only during the sun-less winter months then vitamin D supplement might be an effective treatment.[citation needed]
## Epidemiology[edit]
The prevalence of nummular dermatitis in the United States is approximately 2 per 1,000.[12] It is considered a disease of adulthood, for it is rare in children.[13]
## See also[edit]
* List of cutaneous conditions
* Sulzberger–Garbe syndrome
## References[edit]
1. ^ a b Cowan, M. A. (1961-01-01). "Nummular eczema. A review, follow-up and analysis of a series of 325 cases". Acta Dermato-Venereologica. 41: 453–460. ISSN 0001-5555. PMID 13881857.
2. ^ a b WEIDMAN, ABRAHAM I. (1956-01-01). "Nummular Eczema". AMA Archives of Dermatology. 73 (1): 58–65. doi:10.1001/archderm.1956.01550010060006. ISSN 0096-5359. PMID 13275125.
3. ^ ADACHIA, A (2000). "Mercury-induced nummular dermatitis". Journal of the American Academy of Dermatology. 43 (2): 383–385. doi:10.1067/mjd.2000.102457.
4. ^ Rollins, Troy G. (1968-10-14). "From Xerosis to Nummular Dermatitis: The Dehydration Dermatosis". JAMA. 206 (3): 637. doi:10.1001/jama.1968.03150030093022. ISSN 0098-7484. PMID 5695586.
5. ^ Perry, Adam D.; Trafeli, John P. (2009-05-01). "Hand Dermatitis: Review of Etiology, Diagnosis, and Treatment". The Journal of the American Board of Family Medicine. 22 (3): 325–330. doi:10.3122/jabfm.2009.03.080118. ISSN 1557-2625. PMID 19429739.
6. ^ a b Khurana, Sandeep; Jain, V. K.; Aggarwal, Kamal; Gupta, Sanjeev (2002-12-01). "Patch testing in discoid eczema". The Journal of Dermatology. 29 (12): 763–767. doi:10.1111/j.1346-8138.2002.tb00219.x. ISSN 0385-2407. PMID 12532040.
7. ^ Bonamonte, Domenico; Foti, Caterina; Vestita, Michelangelo; Ranieri, Luigi Davide; Angelini, Gianni (2012). "Nummular Eczema and Contact Allergy". Dermatitis. 23 (4): 153–157. doi:10.1097/der.0b013e318260d5a0. PMID 22828253.
8. ^ a b c Williams, Hywel C. (2005-06-02). "Atopic Dermatitis". New England Journal of Medicine. 352 (22): 2314–2324. doi:10.1056/NEJMcp042803. ISSN 0028-4793. PMID 15930422.
9. ^ Kulthanan, Kanokvalai; Samutrapong, Pailin; Jiamton, Sukhum; Tuchinda, Papapit (2007-12-01). "Adult-onset atopic dermatitis: a cross-sectional study of natural history and clinical manifestation". Asian Pacific Journal of Allergy and Immunology. 25 (4): 207–214. ISSN 0125-877X. PMID 18402293.
10. ^ Julián-Gónzalez, Rolando Elias; Orozco-Covarrubias, Luz; Durán-McKinster, Carola; Palacios-Lopez, Carolina; Ruiz-Maldonado, Ramon; Sáez-de-Ocariz, Marimar (2012-09-01). "Less common clinical manifestations of atopic dermatitis: prevalence by age". Pediatric Dermatology. 29 (5): 580–583. doi:10.1111/j.1525-1470.2012.01739.x. ISSN 1525-1470. PMID 22469300.
11. ^ Krupa Shankar, D. S.; Shrestha, Shristi (2005-11-01). "Relevance of patch testing in patients with nummular dermatitis" (PDF). Indian Journal of Dermatology, Venereology and Leprology. 71 (6): 406–408. doi:10.4103/0378-6323.18945. ISSN 0378-6323. PMID 16394482.
12. ^ T., Johnson, Marie Louise (1977-01-01). "Prevalence of dermatological disease among persons 1-74 years of age: United States". ADV Data Natl CTR Health Statistics.
13. ^ Krol, Alfons; Krafchik, Bernice (2006-03-01). "The differential diagnosis of atopic dermatitis in childhood". Dermatologic Therapy. 19 (2): 73–82. doi:10.1111/j.1529-8019.2006.00058.x. ISSN 1529-8019. PMID 16669989.
## External links[edit]
Classification
D
* ICD-10: L30.0
* ICD-9-CM: 692.9
* DiseasesDB: 33703
External resources
* MedlinePlus: 000870
* eMedicine: derm/298
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
*[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
|
Nummular dermatitis
|
c0085656
| 28,343 |
wikipedia
|
https://en.wikipedia.org/wiki/Nummular_dermatitis
| 2021-01-18T19:07:25 |
{"icd-9": ["692.9"], "icd-10": ["L30.0"], "wikidata": ["Q1150489"]}
|
A number sign (#) is used with this entry because of evidence that progressive myoclonic epilepsy-10 (EPM10) is caused by homozygous mutation in the PRDM8 gene (616639) on chromosome 4q21. One such family has been reported.
Description
Progressive myoclonic epilepsy-10 is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Clinical Features
Chan et al. (2004) and Turnbull et al. (2012) reported a consanguineous Pakistani family in which 3 sibs had a protracted form of early-onset progressive myoclonic epilepsy. The proband, who was the most severely affected, developed school difficulties, dysarthria, and myoclonus at age 5 years. She then developed seizures, ataxia, bladder incontinence; she became mute by age 12 and was wheelchair-bound by age 14. At age 34, she was bedridden and unresponsive, with spastic tetraplegia. Brain imaging showed nonspecific generalized atrophy. Her 2 adult sibs had attended secondary school, but did not complete certification. Both were married with children. One developed symptoms of dysarthria, myoclonus, and ataxia in primary school, with progression to severe spastic ataxia and frequent falls as an adult; he also had paranoia with screaming outbursts. The other sib was dysarthric in childhood, and only developed progressive myoclonus and ataxia in her twenties. However, at the time of the report, she showed severe spasticity, had lost sphincter control and speech, and had hallucinations and paranoia with screaming outbursts. Axillary skin biopsy showed no Lafora bodies, but skeletal muscle biopsy showed numerous Lafora bodies associated with vacuoles consisting of whorled membranes. Electron microscopy of the Lafora bodies showed that they contained densely packed fibrils similar to Lafora bodies due to mutations in the EPM2A gene (607566), although they were not membrane-bound.
Inheritance
The transmission pattern of EPM10 in the family reported by Turnbull et al. (2012) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of a Pakistani family with early-onset Lafora disease, Turnbull et al. (2012) found linkage to a 6.9-Mb region on chromosome 4 (multipoint lod score of 2.56).
Molecular Genetics
In 3 sibs, born of consanguineous Pakistani parents, with EPM10, Turnbull et al. (2012) identified a homozygous missense mutation in the PRDM8 gene (F261L; 616639.0001). The mutation, which was found by linkage analysis and candidate gene sequencing, segregated with the disorder in the family. In vitro cellular expression studies showed that the mutant PRDM8 protein functioned like wildtype in coimmunoprecipitating with laforin (EPM2A; 607566) and malin (EPM2B; 608072) and relocalizing them to the nucleus; however, the nuclear foci were larger than those observed with wildtype, suggesting that the mutation results in greater nuclear localization. Turnbull et al. (2012) postulated a gain-of-function effect that may result in over-sequestration of laforin and malin in the nucleus, preventing their release to the cytoplasm for adequate activity. Studies in patient tissues showed no net change in glycogen synthase (see, e.g., GYS1, 138570) activity, indicating that polyglucosan formation was not related to glycogen synthase.
INHERITANCE \- Autosomal recessive GENITOURINARY Bladder \- Incontinence MUSCLE, SOFT TISSUES \- Lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy \- Vacuoles in the myofiber cytoplasm NEUROLOGIC Central Nervous System \- Myoclonus \- Dysarthria \- Mutism \- Ataxia \- Spasticity \- Hyperreflexia \- Learning disabilities \- Cognitive impairment \- Dementia \- Seizures (in some patients) Behavioral Psychiatric Manifestations \- Paranoia \- Hallucinations \- Psychosis \- Outbursts MISCELLANEOUS \- Onset in first decade \- Progressive disorder \- Protracted course \- Variable severity \- Some patients become bedridden \- One consanguineous family has been reported (last curated November 2015) MOLECULAR BASIS \- Caused by mutation in the PR domain-containing protein 8 gene (PRDM8, 616639.0001 ) ▲ 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
|
EPILEPSY, PROGRESSIVE MYOCLONIC, 10
|
c4225258
| 28,344 |
omim
|
https://www.omim.org/entry/616640
| 2019-09-22T15:48:22 |
{"omim": ["616640"], "orphanet": ["324290"], "synonyms": []}
|
Second-degree atrioventricular block
Other namesSecond-degree heart block
ECGs demonstrating forms of second-degree AV block
SpecialtyCardiology
SymptomsDizziness, Fainting, Shortness of breath
TypesType 1 (Wenckebach), Type 2
CausesFibrosis in AV node, medication, vagal tone, electrolyte disturbances
Diagnostic methodElectrocardiogram
TreatmentAvoidance of AV-nodal-blocking medication, pacemaker
Second-degree atrioventricular block (AV block) is a disease of the electrical conduction system of the heart. It is a conduction block between the atria and ventricles. The presence of second-degree AV block is diagnosed when one or more (but not all) of the atrial impulses fail to conduct to the ventricles due to impaired conduction. It is classified as a block of the AV node and is categorized in between first-degree (slowed conduction) and third degree blocks (complete block).
## Contents
* 1 Signs and symptoms
* 2 Types
* 2.1 Type 1 (Mobitz I/Wenckebach)
* 2.2 Type 2 (Mobitz II/Hay)
* 2.3 P:QRS ratios
* 2.4 2:1 AV block
* 3 See also
* 4 References
* 5 External links
## Signs and symptoms[edit]
Most people with Wenckebach (Type I Mobitz) do not show symptoms. However, those that do usually display one or more of the following:
* Light-headedness
* Dizziness
* Syncope (fainting)
## Types[edit]
There are two non-distinct types of second-degree AV block, called Type 1 and Type 2. In both types, a P wave is blocked from initiating a QRS complex; but, in Type 1, there are increasing delays in each cycle before the omission, whereas, in Type 2, there is no such pattern.[1]
Type 1 second-degree heart block is considered a more benign entity than type 2 second-degree heart block [2] with type 1 not having structural changes found on histology.
Both types are named after Woldemar Mobitz.[3][4] Type I is also named for Karel Frederik Wenckebach,[5] and type II is also named for John Hay.[6][7]
### Type 1 (Mobitz I/Wenckebach)[edit]
Type 1 Second-degree AV block, also known as Mobitz I or Wenckebach periodicity, is almost always a disease of the AV node. Wenckebach published a paper in 1906 on progressively lengthening PR intervals [8] that was later classified as Type I in Mobitz's 1924 paper.[9] Thus, both "Mobitz type I" and "Wenckebach block" refer to the same pattern and pathophysiology.
In Wenckebach's 1906 paper, his original observations were from increasing delay in contraction of the atria & ventricles that shortened after a brief pause and this was later observed on ECG after Einthoven's invention in 1901 that became the electrocardiogram (ECG). Today, Mobitz I heart block is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave (i.e., a dropped QRS complex). After the dropped QRS complex, the PR interval resets and the cycle repeats. This grouped beating was described as "Luciani periods" after Luigi Luciani's work in 1873.[10] The result is a lengthening of the R-R intervals as each subsequent P-wave reaches an increasingly refractory AV node until the impulse fails to conduct, which ultimately results in a blocked QRS complex.
One of the baseline assumptions when determining if an individual has Mobitz I heart block is that the atrial rhythm has to be regular. If the atrial rhythm is not regular, there could be alternative explanations as to why certain P waves do not conduct to the ventricles.
This is almost always a benign condition for which no specific treatment is needed for the rhythm itself. It can be seen in myocardial ischemia, propranolol use, digitalis use, rheumatic fever, and chronically in ischemic heart disease and other structural diseases (amyloidosis, mitral valve prolapse, aortic valve disease, and atrial septal defect). In symptomatic cases, intravenous atropine or isoproterenol may transiently improve conduction.[11]
Sinus rhythm with acute inferior infarction complicated by Type I A-V block manifest in the form of 5:4 Wenckebach periods; R-P/P-R reciprocity.
Sinus rhythm (rate = 100/min) with 3:2 and 2:1 Type II A-V block; RBBB
### Type 2 (Mobitz II/Hay)[edit]
Type 2 Second-degree AV block, also known as Mobitz II, is almost always a disease of the distal conduction system (His-Purkinje System).
Mobitz II heart block is characterized on a surface ECG by intermittently nonconducted P waves not preceded by PR prolongation and not followed by PR shortening. There is usually a fixed number of non-conducted P waves for every successfully conducted QRS complex, and this ratio is often specified in describing Mobitz II blocks. For example, Mobitz II block in which there are two P waves for every one QRS complex may be referred to as 2:1 Mobitz II block.[12]:181
The medical significance of this type of AV block is that it may progress rapidly to complete heart block, in which no escape rhythm may emerge. In this case, the person may experience a Stokes-Adams attack, cardiac arrest, or sudden cardiac death. The definitive treatment for this form of AV Block is an implanted pacemaker.
The impairment is usually below the AV node.[13] Although the terms infranodal block or infrahisian block are often applied to this disorder, they refer to the anatomic location of the block, whereas Mobitz II refers to an electrocardiographic pattern.
### P:QRS ratios[edit]
Because type I Mobitz block occurs in regular cycles, there is always a fixed ratio between the number of P waves and the number of QRS complexes per cycle. This ratio is often specified when describing the block. For example, a Mobitz type I block which has 4 P waves and 3 QRS complexes per cycle may be referred to as 4:3 Mobitz Type I block.[12]:179
Type II Mobitz block also usually occurs with a fixed P:QRS ratio, with a set number of P waves for every successfully elicited QRS.[12]:179 This ratio is also frequently specified in referring to 3:1, 4:1, 5:1, or higher Mobitz type II block. Higher numbers of P waves for every QRS indicate more severe block.[12]:181 Of course, because type II Mobitz block is unstable by nature, it is common for the P:QRS ratio in Mobitz type II block to change over time.[citation needed]
The P:QRS ratio is always of the form X:(X − 1) in type I Mobitz block and of the form X:1 in type 2 Mobitz block because of the nature of the pattern of each. Thus one may leave out the type and refer to 3:1 Mobitz block or 4:3 Mobitz block, for example, without creating ambiguity, except in the case of 2:1 block.
### 2:1 AV block[edit]
In the case of 2:1 block (2 P waves for every QRS complex) it is impossible to differentiate type I from type II Mobitz block based solely on the P:QRS ratio or on a pattern of lengthening PR intervals.[12]:182 In this case, a lengthened PR interval with a normal QRS width is most likely indicative of a type I-like pathology, and a normal PR interval with a widened QRS is most likely indicative of a type II-like pathology.[12]:182
## See also[edit]
* Electrocardiogram (ECG or EKG)
* SA node
* AV node
* Atrioventricular block
* First-degree AV block
* Third-degree AV block
## References[edit]
1. ^ "Lesson VI - ECG Conduction Abnormalities". Retrieved 2009-01-07.
2. ^ http://health.medicscientist.com/wp-content/uploads/2011/04/SeconddegreeAVblock2_thumb.jpg
3. ^ synd/2824 at Who Named It?
4. ^ W. Mobitz. Über die unvollständige Störung der Erregungsüberleitung zwischen Vorhof und Kammer des menschlichen Herzens. Zeitschrift für die Gesamte Experimentelle Medizin, Berlin 1924, 41: 180–237.
5. ^ K. F. Wenckebach. De Analyse van den onregelmatigen Pols. III. Over eenige Vormen van Allorythmie en Bradykardie. Nederlandsch Tijdschrift voor Geneeskunde, Amsterdam, 1898, 2: 1132.
6. ^ Silverman ME, Upshaw CB, Lange HW (August 2004). "Woldemar Mobitz and His 1924 classification of second-degree atrioventricular block". Circulation. 110 (9): 1162–7. doi:10.1161/01.CIR.0000140669.35049.34. PMID 15339865.
7. ^ Hay J (1906). "Bradycardia and cardiac arrhythmia produced by depression of certain of the functions of the heart". The Lancet. 1906 (1): 139–143. doi:10.1016/s0140-6736(01)44443-6.
8. ^ Wenckebach, KF (1906). "Beiträge zur Kenntnis der menschlichen Herztätigkeit [Contributions to the knowledge of human cardiac activity]". Arch Anat Physiol: 297–354.
9. ^ Mobitz, W (1924). "Über die unvollständige Störung der Erregungsüberleitung zwischen Vorhof und Kammer des menschlichen Herzens [On the partial block of impulse conduction between atrium and ventricle of human hearts]". Z Gesamte Exp Med. 41: 180–237. doi:10.1007/bf02758773.
10. ^ Silverman, Mark E (30 August 2004). "Woldemar Mobitz and His 1924 Classification of Second-Degree Atrioventricular Block". Circulation. 110 (9): 1162–7. doi:10.1161/01.CIR.0000140669.35049.34. PMID 15339865.
11. ^ Lilly, L. S., Pathophysiology of Heart Disease. Baltimore: Lippincott Williams & Wilkins; 2007
12. ^ a b c d e f Dubin, Dale (2000). Rapid interpretation of EKG's : ... an interactive course (6. ed.). Tampa, Fla.: Cover Publ. ISBN 978-0912912066.
13. ^ Wogan JM, Lowenstein SR, Gordon GS (1993). "Second-degree atrioventricular block: Mobitz type II". J Emerg Med. 11 (1): 47–54. doi:10.1016/0736-4679(93)90009-V. PMID 8445186.
## External links[edit]
Classification
D
* ICD-10: I44.1
* ICD-9-CM: 426.12, 426.13
* DiseasesDB: 10477
External resources
* eMedicine: emerg/234
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[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
|
Second-degree atrioventricular block
|
c0264906
| 28,345 |
wikipedia
|
https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block
| 2021-01-18T18:33:56 |
{"umls": ["C0264906"], "icd-9": ["426.12", "426.13"], "icd-10": ["I44.1"], "wikidata": ["Q685594"]}
|
A number sign (#) is used with this entry because variation in the gene encoding agouti signaling protein (ASIP; 600201) influences hair and eye pigmentation.
For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see 227220.
Molecular Genetics
In mice and humans, binding of alpha-melanocyte-stimulating hormone (alpha-MSH; see 176830) to the melanocyte-stimulating-hormone receptor (MSHR), the protein product of the melanocortin-1 receptor (MC1R; 155555) gene, leads to the synthesis of eumelanin. In the mouse, ligation of MSHR by agouti signaling protein (ASP; 600201) results in the production of pheomelanin. The binding of ASP to MSHR precludes alpha-MSH-initiated signaling and thus blocks production of cAMP, leading to a downregulation of eumelanogenesis. The net result is increased synthesis of pheomelanin. Kanetsky et al. (2002) undertook to characterize the ASIP gene in a group of white subjects to assess whether ASIP was a determinant of human pigmentation and whether this gene is associated with increased melanoma risk. They found no evidence of coding region sequence variation in ASIP, but detected an 8818A-G polymorphism in the 3-prime untranslated region (rs6058017; 600201.0001). They genotyped 746 participants in a study of melanoma susceptibility for this polymorphism. Among 147 healthy controls, the frequency of the G allele was 0.12. Carriage of the G allele was significantly associated with dark hair (odds ratio 1.8) and brown eyes (odds ratio 1.9) after adjusting for age, gender, and disease status. This was said to be the first report of an association of ASIP with specific human pigmentation characteristics. It remained to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk.
Sulem et al. (2008) performed a genomewide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. A total of 6 SNPs within a region of strong linkage disequilibrium on 20q11.22 showed association with burning and freckling that reached genomewide significance (max odds ratio = 1.60, p = 3.9 x 10(-9)). Multipoint analysis of the area revealed an extended haplotype tagged by a 2-SNP haplotype, rs1015362G and rs4911414T, that Sulem et al. (2008) referred to as 'the ASIP haplotype.' The SNPs rs1015362 and rs4911414 lie outside the ASIP gene itself. The ASIP haplotype was significantly associated in both the Icelandic and Dutch replication samples. In the combined analysis of the discovery and replication samples, the ASIP haplotype reached genomewide significance for red hair color, freckling, and skin sensitivity to sun, in addition to burning and freckling. This pattern of association was similar to that observed for variations within MC1R associated with red hair color. The ASIP haplotype occurs on the background of the major allele of rs6058017 (600201.0001), but the correlation between the two is very weak. The strength of the association of rs6058017 with the pigmentation traits was much less than that of the ASIP haplotype, and after adjustment for rs6058017 the ASIP haplotype remained highly significant for burning and freckling (p = 1.3 x 10(-46)). After adjustment for the ASIP haplotype, the association of rs6058017 with pigmentation characteristics was only marginal (P = 0.057 for burning and freckling).
The ASIP haplotype of Sulem et al. (2008) has also been associated with susceptibility to cutaneous malignant melanoma and basal cell carcinoma (see CMM7, 612263).
Animal Model
Mice that carry the lethal yellow or viable yellow mutation, 2 dominant mutations of the agouti gene on mouse chromosome 2, exhibit a phenotype that includes yellow fur, marked obesity, a form of type II diabetes associated with insulin resistance, and an increased susceptibility to tumor development. Klebig et al. (1995) generated transgenic mice that ectopically expressed an agouti cDNA clone encoding the normal agouti protein in all tissues examined. Transgenic mice of both sexes had yellow fur, became obese, and developed hyperinsulinemia. In addition, male transgenic mice developed hyperglycemia by 12 to 20 weeks of age. The results demonstrated that the ectopic agouti expression is responsible for most, if not all, of the phenotypic traits of the dominant, 'obese yellow' mutants.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9
|
c2673200
| 28,346 |
omim
|
https://www.omim.org/entry/611742
| 2019-09-22T16:02:52 |
{"mesh": ["C567091"], "omim": ["611742"], "synonyms": ["Alternative titles", "SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR", "SKIN/HAIR/EYE PIGMENTATION 9, BROWN/NONBROWN EYES", "SKIN/HAIR/EYE PIGMENTATION 9, RED/NONRED HAIR", "SKIN/HAIR/EYE PIGMENTATION 9, FRECKLING/SUNBURN"]}
|
Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
*[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
|
Craniofrontonasal dysplasia
|
c0220767
| 28,347 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520
| 2021-01-23T18:12:39 |
{"gard": ["1578"], "mesh": ["C536456"], "omim": ["304110"], "umls": ["C0220767"], "icd-10": ["Q87.1"], "synonyms": ["CFND", "CFNS", "Craniofrontonasal syndrome"]}
|
## Clinical Features
Sismani et al. (2003) reported a Greek family with apparently nonsyndromic X-linked mental retardation. The affected males had moderate to severe mental retardation, severe speech problems, and aggressive behavior.
Mapping
Sismani et al. (2003) performed linkage analysis on a Greek family with apparently nonsyndromic X-linked mental retardation. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome allowed assignment of the causative gene to a 27-Mb interval in Xq12-q21.3.
Molecular Genetics
### Exclusion Studies
In affected members of a family segregating X-linked mental retardation, Sismani et al. (2003) performed DNA analysis of 3 known or candidate MRX genes from the Xq12-q21 region, OPHN1 (300127), ATRX (300032), and RSK4 (300303), and found no mutations.
INHERITANCE \- X-linked recessive NEUROLOGIC Central Nervous System \- Mental retardation, moderate to severe \- Febrile seizures \- Speech problems, moderate to severe Behavioral Psychiatric Manifestations \- Impulsive behavior \- Hyperactivity \- Aggressive outbursts MISCELLANEOUS \- Based on one Greek family with 4 affected brothers ▲ 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, X-LINKED 77
|
c2931498
| 28,348 |
omim
|
https://www.omim.org/entry/300454
| 2019-09-22T16:20:18 |
{"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300454"], "orphanet": ["777"]}
|
Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis typically leads to end-stage kidney disease by adolescence.
SLS affects the eyes by causing varying degrees of retinal dystrophy, which is progressive wasting of the retina (the part of the eye that senses light and sends images to the brain). Some children with SLS have a severe type of retinal dystrophy at birth called Leber congenital amaurosis (LCA). Symptoms of LCA include severe farsightedness, light sensitivity (photophobia), and nystagmus. Other children with SLS do not have LCA but later develop symptoms of a retinal dystrophy called retinitis pigmentosa (RP). Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to blindness.
In rare cases, additional symptoms such as liver fibrosis or skeletal abnormalities have been reported.
SLS may be caused by mutations in any of several genes, and inheritance is autosomal recessive. The syndrome can be diagnosed based on symptoms, kidney and eye evaluations, and genetic testing.
Treatment during earlier stages of kidney disease in children includes maintaining a healthy balance of fluid and electrolytes. End-stage kidney disease requires dialysis, or kidney transplantation. After transplantation, kidney damage does not occur again. End-stage kidney disease can be life-threatening if not treated. There is currently no treatment to prevent or stop the progression of vision loss due to retinal dystrophy, but various low-vision aids may be helpful for those who have remaining vision.
*[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
|
Senior Loken Syndrome
|
c0403553
| 28,349 |
gard
|
https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome
| 2021-01-18T17:57:46 |
{"mesh": ["C537580"], "omim": ["266900"], "umls": ["C0403553"], "orphanet": ["3156"], "synonyms": ["Senior-Loken Syndrome", "Renal dysplasia retinal aplasia", "Renal-retinal syndrome", "Juvenile nephronophthisis with Leber amaurosis", "Loken-Senior syndrome"]}
|
Rotator cuff tear
Other namesRotator cuff injury, rotator cuff disease
Some of the muscles of the rotator cuff, with a tear in the supraspinatus muscle
SpecialtyOrthopedics
SymptomsShoulder pain, weakness[1]
TypesPartial, complete[2]
Diagnostic methodBased on symptoms, examination, medical imaging[2]
Differential diagnosisSubacromial bursitis, rotator cuff tendinitis, impingement syndrome[1][3]
TreatmentPain medication, specific exercises, surgery[1]
FrequencyCommon[2]
A rotator cuff tear is an injury where one or more of the tendons or muscles of the rotator cuff of the shoulder get torn.[4] Symptoms may include shoulder pain, which is often worse with movement, or weakness.[1] This may limit people’s ability to brush their hair or put on clothing.[4] Clicking may also occur with movement of the arm.[4]
Tears may occur as the result of a sudden force or gradually over time.[2] Risk factors include certain repetitive activities, smoking, and a family history of the condition.[1][2][5] Diagnosis is based on symptoms, examination, and medical imaging.[2] The rotator cuff is made up of the supraspinatus, infraspinatus, teres minor, and subscapularis.[1] The supraspinatus is the most commonly affected.[2]
Treatment may include pain medication such as NSAIDs and specific exercises.[1] It is recommended that people who are unable to raise their arm above 90 degrees after 2 weeks should be further assessed.[6] In severe cases surgery may be tried, however benefits of surgery are unclear as of 2019.[1][7] Rotator cuff tears are common.[2] Those over the age of 40 are most often affected.[2] The condition has been described since at least the early 1800s.[8]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Mechanisms of injury
* 3.1 Acute tears
* 3.2 Chronic tears
* 3.3 Extrinsic factors
* 3.4 Intrinsic factors
* 3.5 Surgical considerations
* 4 Diagnosis
* 4.1 Symptoms
* 4.2 Signs
* 4.3 MRI
* 4.4 Ultrasound
* 4.5 Xray
* 4.6 In-office testing
* 4.7 Classification
* 5 Prevention
* 5.1 Size
* 5.2 Position
* 5.3 Stretching
* 5.4 Muscle groups
* 6 Treatment
* 6.1 Non-operative treatment
* 6.2 Surgery
* 6.3 Biologics
* 6.4 Rehabilitation
* 7 Prognosis
* 8 Epidemiology
* 9 References
* 10 External links
## Signs and symptoms[edit]
Location of the pain
Many rotator cuff tears have no symptoms. Both partial and full thickness tears have been found on post mortem and MRI studies in those without any history of shoulder pain or symptoms. However, the most common presentation is shoulder pain or discomfort. This may occur with activity, particularly shoulder activity above the horizontal position, but may also be present at rest in bed. Pain-restricted movement above the horizontal position may be present, as well as weakness with shoulder flexion and abduction.[9][10]
Abnormal mobility or function of the scapula (scapular dyskinesia) may be present and is related to lower functional scores; it unclear whether scapular dyskinesia is a cause, effect or compensation for rotator cuff pathology.[11]
## Risk factors[edit]
Claims of rotator cuff tears by industry
Epidemiological studies strongly support a relationship between age and cuff tear prevalence. Those most prone to failed rotator cuff syndrome are people 65 years of age or older; and those with large, sustained tears. Smokers, diabetes sufferers, individuals with muscle atrophy and/or fatty infiltration, and those who do not follow postoperative-care recommendations also are at greater risk. In a recent study the frequency of such tears increased from 13% in the youngest group (aged 50–59 y) to 20% (aged 60–69 y), 31% (aged 70–79 y), and 51% in the oldest group (aged 80–89 y).[12] This high rate of tear prevalence in asymptomatic individuals suggests that rotator cuff tears could be considered a "normal" process of aging rather than a result of an apparent pathological process.[citation needed]
They are known to increase in frequency with age[13] and the most common cause is age-related degeneration and, less frequently, sports injuries or trauma.[14]
Some risk factors such as increased age and height cannot be changed. Increased body mass index is also associated with tearing. Recurrent lifting and overhead motions are at risk for rotator cuff injury as well. This includes jobs that involve repetitive overhead work, such as carpenters, painters, custodians, and servers.[15] People who play sports that involve overhead motions, such as swimming, water polo,[16] volleyball, baseball, tennis, and American football quarterbacks, are at a greater risk of experiencing a rotator cuff tear. Striking-based combat sports, such as boxing, also account for severe rotator cuff injuries of competitors,[17] typically when their punches miss the target, or overusing the shoulder by throwing excessively large amounts of punches.[18] Certain track-and-field activities, such as shot put, javelin throw are also of considerable risk,[19] especially when performing outdoors under cold weather conditions or neglecting warming-up procedures, for proper warm-up of the throwing and/or swinging arm can help reduce the stress on the musculature of the shoulder girdle.[20] Generally, the rates of rotator cuff injuries increases with age[21][22] while corticosteroid injections around the tendons increases the risk of tendon tear and delay tendon healing.[23]
## Mechanisms of injury[edit]
The shoulder joint is made up of three bones: the shoulder blade (scapula), the collarbone (clavicle) and the upper arm bone (humerus).
The shoulder is a complex mechanism involving bones, ligaments, joints, muscles, and tendons.
The two main causes are acute injury or chronic and cumulative degeneration of the shoulder joint. Mechanisms can be extrinsic, intrinsic or a combination of both.[24]
The cuff is responsible for stabilizing the glenohumeral joint to allow abduction and rotation of the humerus. When trauma occurs, these functions can be compromised. Because individuals are dependent on the shoulder for many activities, overuse can lead to tears, with the vast majority being in the supraspinatus tendon.[citation needed]
The role of the supraspinatus is to resist downward motion, both while the shoulder is relaxed and carrying weight.[25] Supraspinatus tears usually occurs at its insertion on the humeral head at the greater tubercle. Though the supraspinatus is the most commonly injured tendon in the rotator cuff, the other three can also be injured at the same time.[25]
### Acute tears[edit]
The amount of stress needed to acutely tear a rotator cuff tendon will depend on the underlying condition of the tendon. If healthy, the stress needed will be high, such as with a fall on the outstretched arm. This stress may occur coincidentally with other injuries such as a dislocation of the shoulder or separation of the acromioclavicular joint. In the case of a tendon with pre-existing degeneration, the force may be more modest, such as with a sudden lift, particularly with the arm above the horizontal position.[24] The type of loading involved with injury is usually eccentric, such as when two people are carrying a load and one lets go, forcing the other to maintain force while the muscle elongates.[citation needed]
### Chronic tears[edit]
Chronic tears are indicative of extended use in conjunction with other factors such as poor biomechanics or muscular imbalance. Ultimately, most are the result of wear that occurs slowly over time as a natural part of aging. They are more common in the dominant arm, but a tear in one shoulder signals an increased risk of a tear in the opposing shoulder.
Several factors contribute to degenerative, or chronic, rotator cuff tears of which repetitive stress is the most significant. This stress consists of repeating the same shoulder motions frequently, such as overhead throwing, rowing, and weightlifting. Many jobs that require frequent shoulder movement such as lifting and overhead movements also contribute. In older populations impairment of blood supply can also be an issue. With age, circulation to the rotator cuff tendons decreases, impairing natural ability to repair, increasing risk for tear. Another potential contributing cause is impingement syndrome, the most common non-sports related injury and which occurs when the tendons of the rotator cuff muscles become irritated and inflamed while passing through the subacromial space beneath the acromion. This relatively small space becomes even smaller when the arm is raised in a forward or upward position. Repetitive impingement can inflame the tendons and bursa, resulting in the syndrome.[26][27]
### Extrinsic factors[edit]
A flattened or hooked acromion can predispose a shoulder to rotator cuff impingement and tearing.
Well-documented anatomic factors include the morphologic characteristics of the acromion, a bony projection from the scapula that curves over the shoulder joint. Hooked, curved, and laterally sloping acromia are strongly associated with cuff tears and may cause damage through direct traction on the tendon.[12] Conversely, flat acromia may have an insignificant involvement in cuff disease and consequently may be best treated conservatively. The development of these different acromial shapes is likely both genetic and acquired. In the latter case, there can be a progression from flat to curved or hooked with increasing age.[12] Repetitive mechanical activities such as sports and exercise may contribute to flattening and hooking of the acromion. Cricket bowling, swimming, tennis, baseball, and kayaking are often implicated. Progression to a hooked acromion could be an adaptation to an already damaged, poorly balanced rotator cuff with resultant stress on the coracoacromial arch.[12] Other anatomical factors include an os acromiale and acromial spurs. Environmental factors include age, shoulder overuse, smoking, and medical conditions that affect circulation or impair the inflammatory and healing response, such as diabetes mellitus.[12]
### Intrinsic factors[edit]
Intrinsic factors refer to injury mechanisms that occur within the rotator cuff itself. The principal is a degenerative-microtrauma model, which supposes that age-related tendon damage compounded by chronic microtrauma results in partial tendon tears that then develop into full rotator cuff tears.[12] As a result of repetitive microtrauma in the setting of a degenerative rotator cuff tendon, inflammatory mediators alter the local environment, and oxidative stress induces tenocyte apoptosis causing further rotator cuff tendon degeneration.[12] A neural theory also exists that suggests neural overstimulation leads to the recruitment of inflammatory cells and may also contribute to tendon degeneration.[12]
### Surgical considerations[edit]
Depending upon the diagnosis, several treatment alternatives are available. They include revision repair, non-anatomic repair, tendon transfer and arthroplasty. When possible, surgeons make tension-free repairs in which they use grafted tissues rather than stitching to reconnect tendon segments. This can result in a complete repair. Other options are a partial repair, and reconstruction involving a bridge of biologic or synthetic substances. Partial repairs typically are performed on retracted cuff tears.
Tendon transfers are prescribed for young, active cuff-tear individual who experience weakness and decreased range of motion, but little pain. The technique is not considered appropriate for older people, or those with pre-operative stiffness or nerve injuries. People diagnosed with glenohumeral arthritis and rotator cuff anthropathy have the alternative of total shoulder arthroplasty, if the cuff is largely intact or repairable. If the cuff is incompetent then a reverse shoulder arthroplasty is available and, although not as robust a prosthesis, does not require an intact cuff to maintain a stable joint.
## Diagnosis[edit]
A complete tear of the supraspinatus resulting in a shift upwards of the head of the humerus
Diagnosis is based upon physical assessment and history, including description of previous activities and acute or chronic symptoms. A systematic, physical examination of the shoulder comprises inspection, palpation, range of motion, provocative tests to reproduce the symptoms, neurological examination, and strength testing.[28] The shoulder should also be examined for tenderness and deformity. Since pain arising from the neck is frequently 'referred' to the shoulder, the examination should include an assessment of the cervical spine looking for evidence suggestive of a pinched nerve, osteoarthritis, or rheumatoid arthritis.
Neer promoted the concept of three stages of rotator cuff disease.[29] Stage I, according to Neer, occurred in those younger than 25 years and involved edema and hemorrhage of the tendon and bursa. Stage II involved tendinitis and fibrosis of the rotator cuff in 25- to 40-year-olds. Stage III involved tearing of the rotator cuff (partial or full thickness) and occurred in those older than 40 years.[30] For surgical purposes, tears are also described by location, size or area, and depth.[30] Further subclasses include the acromiohumeral distance, acromial shape, fatty infiltration or degeneration of muscles, muscle atrophy, tendon retraction, vascular proliferation, chondroid metaplasia, and calcification. Again, in surgical planning, age-related degeneration of thinning and disorientation of the collagen fibers, myxoid degeneration, and hyaline degeneration are considered.[12]
Diagnostic modalities, dependent on circumstances, include X-ray, MRI, MR arthrography, double-contrast arthrography, and ultrasound. Although MR arthrography is currently considered the gold standard, ultrasound may be most cost-effective.[31] Usually, a tear will be undetected by X-ray, although bone spurs, which can impinge upon the rotator cuff tendons, may be visible.[32] Such spurs suggest chronic severe rotator cuff disease. Double-contrast arthrography involves injecting contrast dye into the shoulder joint to detect leakage out of the injured rotator cuff[33] and its value is influenced by the experience of the operator. The most common diagnostic tool is magnetic resonance imaging (MRI), which can sometimes indicate the size of the tear, as well as its location within the tendon. Furthermore, MRI enables the detection or exclusion of complete rotator cuff tears with reasonable accuracy and is also suitable to diagnose other pathologies of the shoulder joint.[34]
The logical use of diagnostic tests is an important component of effective clinical practice.[35]
Clinical judgement, rather than over reliance on MRI or any other modality, is strongly advised in determining the cause of shoulder pain, or planning its treatment, since rotator cuff tears are also found in some without pain or symptoms. The role of X-ray, MRI, and ultrasound, is adjunctive to clinical assessment and serves to confirm a diagnosis provisionally made by a thorough history and physical examination. Over-reliance on imaging may lead to overtreatment or distract from the true dysfunction causing symptoms.[36]
### Symptoms[edit]
Symptoms may occur immediately after trauma (acute) or develop over time (chronic).
Acute injury is less frequent than chronic disease, but may follow bouts of forcefully raising the arm against resistance, as occurs in weightlifting, for example.[37] In addition, falling forcefully on the shoulder can cause acute symptoms. These traumatic tears predominantly affect the supraspinatus tendon or the rotator interval[34] and symptoms include severe pain that radiates through the arm, and limited range of motion, specifically during abduction of the shoulder.[38] Chronic tears occur among individuals who constantly participate in overhead activities, such as pitching or swimming, but can also develop from shoulder tendinitis or rotator cuff disease. Symptoms arising from chronic tears include sporadic worsening of pain, debilitation, and atrophy of the muscles, noticeable pain during rest, crackling sensations (crepitus) when moving the shoulder, and inability to move or lift the arm sufficiently, especially during abduction and flexion motions.[37][38]
Pain in the anterolateral aspect of the shoulder is not specific to the shoulder,[39] and may arise from, and be referred from, the neck, heart or gut.
Symptoms will often include pain or ache over the front and outer aspect of the shoulder, pain aggravated by leaning on the elbow and pushing upwards on the shoulder (such as leaning on the armrest of a reclining chair), intolerance of overhead activity, pain at night when lying directly on the affected shoulder, pain when reaching forward (e.g. unable to lift a gallon of milk from the refrigerator). Weakness may be reported, but is often masked by pain and is usually found only through examination. With longer-standing pain, the shoulder is favored and gradually loss of motion and weakness may develop, which, due to pain and guarding, are often unrecognized and only brought to attention during the physical exam.
Primary shoulder problems may cause pain over the deltoid muscle intensified by abduction against resistance – the impingement sign. This signifies pain arising from the rotator cuff, but cannot distinguish between inflammation, strain, or tear. Individuals may report that they are unable to reach upwards to brush their hair or to lift a food can from an overhead shelf.
### Signs[edit]
No single physical examination test distinguishes reliably between bursitis, partial-thickness, and full-thickness tears.[40][41] The most useful single test for infraspinatous tendon tears is the drop sign (the examiner lifts the arm straight out from the body with the palm up, the person then needs to hold it there for 10 seconds) and the external rotation lag sign (with the arm by the side and the elbow bent to 90 degrees the person tries to rotate outwards against resistance).[41]
A combination of tests seems to provide the most accurate diagnosis. For impingement, these tests include the Hawkins-Kennedy impingement sign in which an examiner medially rotates the injured individual's flexed arm, forcing the supraspinatus tendon against the coracoacromial ligament and so producing pain if the test is positive[40] a positive painful arc sign, and weakness in external rotation with the arm at the side. For the diagnosis of full-thickness rotator cuff tear, the best combination appears to include once more the painful arc and weakness in external rotation, and in addition, the drop arm sign.[40] This test is also known as Codman's test. The arm is raised to the side to 90° by the examiner. The injured individual then attempts to look to lower the arm back to neutral, palm down. If the arm drops suddenly or pain is experienced, the test is considered positive.
### MRI[edit]
MRI of normal shoulder intratendinous signal
MRI of rotator cuff full-thickness tear
Magnetic resonance imaging (MRI) and ultrasound[42] are comparable in efficacy and helpful in diagnosis although both have a false positive rate of 15 - 20%.[43] MRI can reliably detect most full-thickness tears although very small pinpoint tears may be missed. In such situations, an MRI combined with an injection of contrast material, an MR-arthrogram, may help to confirm the diagnosis. It should be realized that a normal MRI cannot fully rule out a small tear (a false negative) while partial-thickness tears are not as reliably detected.[44] While MRI is sensitive in identifying tendon degeneration (tendinopathy), it may not reliably distinguish between a degenerative tendon and a partially torn tendon. Again, magnetic resonance arthrography can improve the differentiation.[44] An overall sensitivity of 91% (9% false negative rate) has been reported indicating that magnetic resonance arthrography is reliable in the detection of partial-thickness rotator cuff tears.[44] However, its routine use is not advised, since it involves entering the joint with a needle with potential risk of infection. Consequently, the test is reserved for cases in which the diagnosis remains unclear.
### Ultrasound[edit]
Musculoskeletal ultrasound has been advocated by experienced practitioners, avoiding the radiation of X-ray and the expense of MRI while demonstrating comparable accuracy to MRI for identifying and measuring the size of full-thickness and partial-thickness rotator cuff tears.[45] This modality can also reveal the presence of other conditions that may mimic rotator cuff tear at clinical examination, including tendinosis, calcific tendinitis, subacromial subdeltoid bursitis, greater tuberosity fracture, and adhesive capsulitis.[46] However, MRI provides more information about adjacent structures in the shoulder such as the capsule, glenoid labrum muscles and bone and these factors should be considered in each case when selecting the appropriate study.
### Xray[edit]
Projectional radiograph of normal glenohumeral position.[47]
High-riding humeral head in a rotator cuff tear.
X-ray projectional radiography cannot directly reveal tears of the rotator cuff, a 'soft tissue', and consequently, normal X-rays cannot exclude a damaged cuff. However, indirect evidence of pathology may be seen in instances where one or more of the tendons have undergone degenerative calcification (calcific tendinitis). The humeral head may migrate upwards (high-riding humeral head) secondary to tears of the infraspinatus, or combined tears of the supraspinatus and infraspinatus.[47] The migration can be measured by the distance between:
* A line crossing the center of a line between the superior and inferior rims of the glenoid articular surface (blue in image).
* The center of a "best-fit" circle positioned over the humeral articular surface (green in image)
Normally, the former is positioned inferiorly to the latter, and a reversal is therefore indicating a rotator cuff tear.[47] Prolonged contact between a high-riding humeral head and the acromion above it, may lead to X-rays findings of wear on the humeral head and acromion and secondary degenerative arthritis of the glenohumeral joint (the ball and socket joint of the shoulder), called cuff arthropathy, may follow.[46] Incidental X-ray findings of bone spurs at the adjacent acromioclavicular joint may show a bone spur growing from the outer edge of the clavicle downwards towards the rotator cuff. Spurs may also be seen on the underside of the acromion, once thought to cause direct fraying of the rotator cuff from contact friction, a concept currently regarded as controversial.
### In-office testing[edit]
As part of clinical decision-making, a simple, minimally invasive, in-office procedure may be performed, the rotator cuff impingement test. A small amount of a local anesthetic and an injectable corticosteroid are injected into the subacromial space to block pain and to provide anti-inflammatory relief. If pain disappears and shoulder function remains good, no further testing is pursued. The test helps to confirm that the pain arises from the shoulder primarily rather than referred from the neck, heart, or gut.
If pain is relieved, the test is considered positive for rotator-cuff impingement, of which tendinitis and bursitis are major causes. However, partial rotator-cuff tears may also demonstrate good pain relief, so a positive response cannot rule out a partial rotator-cuff tear. However, with demonstration of good, pain-free function, treatment will not change, so the test is useful in helping to avoid overtesting or unnecessary surgery.
### Classification[edit]
Tears of the rotator cuff tendon are described as partial or full thickness, and full thickness with complete detachment of the tendons from bone.
* Partial-thickness tears often appear as fraying of an intact tendon.
* Full-thickness tears are "through-and-through". These tears can be small pinpoint, larger buttonhole, or involve the majority of the tendon where it still remains substantially attached to the humeral head and thus maintains function.
* Full-thickness tears may also involve complete detachment of the tendon(s) from the humeral head and may result in significantly impaired shoulder motion and function.
Shoulder pain is variable and may not be proportional to the size of the tear.
Tears are also sometimes classified based on the trauma that caused the injury:
* Acute, as a result of a sudden, powerful movement which might include falling onto an outstretched hand at speed, making a sudden thrust with a paddle in kayaking, or following a powerful pitch/throw
* Subacute, arising in similar situations but occurring in one of the five layers of the shoulder anatomy
* Chronic, developing over time, and usually occurring at or near the tendon (as a result of the tendon rubbing against the overlying bone), and usually associated with an impingement syndrome
## Prevention[edit]
Long-term overuse/abuse of the shoulder joint is generally thought to limit range of motion and productivity due to daily wear and tear of the muscles, and many public web sites offer preventive advice. (See external links) The recommendations usually include:
* regular shoulder exercises to maintain strength and flexibility
* using proper form when lifting or moving heavy weights
* resting the shoulder when experiencing pain
* application of cold packs and heat pads to a painful, inflamed shoulder
* strengthening program to include the back and shoulder girdle muscles as well as the chest, shoulder and upper arm
* adequate rest periods in occupations that require repetitive lifting and reaching
### Size[edit]
According to a study which measured tendon length against the size of the injured rotator cuff, researchers learned that as rotator cuff tendons decrease in length, the average rotator cuff tear severity is proportionally decreased, as well.[48] This shows that larger individuals are more likely to suffer from a severe rotator cuff tear if they do not "tighten the shoulder muscles around the joint".[clarification needed]
### Position[edit]
Another study observed 12 different positions of movements and their relative correlation with injuries occurred during those movements. The evidence shows that putting the arm in a neutral position relieves tension on all ligaments and tendons.[49]
### Stretching[edit]
One article observed the influence of stretching techniques on preventive methods of shoulder injuries. Increased velocity of exercise increases injury, but beginning a fast-movement exercise with a slow stretch may cause muscle/tendon attachment to become more resistant to tearing.[50]
### Muscle groups[edit]
When exercising, exercising the shoulder as a whole and not one or two muscle groups is also found to be imperative. When the shoulder muscle is exercised in all directions, such as external rotation, flexion, and extension, or vertical abduction, it is less likely to suffer from a tear of the tendon.[51]
## Treatment[edit]
A rotator cuff tear can be treated operatively or non-operatively. No benefit is seen from early rather than delayed surgery, and many with partial tears and some with complete tears will respond to nonoperative management.[52] Consequently, an individual may begin with nonsurgical management. However, early surgical treatment may be considered in significant (>1 cm – 1.5 cm) acute tears, or in young individuals with full-thickness tears who have a significant risk for the development of irreparable rotator cuff damage.[53]
Rotator-cuff surgery appears to result in similar benefits as nonoperative management.[54][55][56] As a conservative approach has less complications and is less expensive it is recommended as initial treatment.[54]
### Non-operative treatment[edit]
Those with pain but reasonably maintained function are suitable for nonoperative management. This includes medications that provide pain relief such as anti-inflammatory agents, topical pain relievers such as cold packs, and if warranted, subacromial corticosteroid or local anesthetic injection.[57] Topical glyceryl trinitrate appears effective at relieving acute symptoms however, headaches were reported as a side effect.[58] A sling may be offered for short-term comfort, with the understanding that undesirable shoulder stiffness can develop with prolonged immobilization. Early physical therapy may afford pain relief with modalities (e.g. iontophoresis) and help to maintain motion. Ultrasound treatment is not efficacious.[citation needed] As pain decreases, strength deficiencies and biomechanical errors can be corrected.
A conservative physical therapy program begins with preliminary rest and restriction from engaging in activities which gave rise to symptoms. Normally, inflammation can usually be controlled within one to two weeks, using a nonsteroidal anti-inflammatory drug and subacromial steroid injections to decrease inflammation, to the point that pain has been significantly decreased to make stretching tolerable.[57] After this short period, rapid stiffening and an increase in pain can result if sufficient stretching has not been implemented.
A gentle, passive range-of-motion program should be started to help prevent stiffness and maintain range of motion during this resting period. Exercises, for the anterior, inferior, and posterior shoulder, should be part of this program.[57] Codman exercises (giant, pudding-stirring), to "permit the patient to abduct the arm by gravity, the supraspinatus remains relaxed, and no fulcrum is required" are widely used. The use of NSAIDs, hot and cold packs, and physical therapy modalities, such as ultrasound, phonophoresis, or iontophoresis, can be instituted during this stretching period, if effective.[57] Corticosteroid injections are recommended two to three months apart with a maximum of three injections. Multiple injections (four or more) have been shown to compromise the results of rotator cuff surgery which result in weakening of the tendon.[57] However, before any rotator cuff strengthening can be started, the shoulder must have a full range of motion.
After a full, painless range of motion is achieved, an individual may advance to a gentle strengthening program. Rockwood[59] coined the term orthotherapy to describe this program which is aimed at creating an exercise regimen that initially gently improves motion, then gradually improves strength in the shoulder girdle.[57] This program involves a home therapy kit which includes elastic bands of six different colors and strengths, a pulley set, and a three-piece, one-meter-long stick.[57] The program is individually customized. Participants are asked to use their exercise program whether at home, work, or traveling.
### Surgery[edit]
Rotator cuff tear and surgical repair
Benefits of surgery are unclear as of 2019.[7] Several instances when surgery may be recommended include:
* 20 to 30-year-old active person with an acute tear and severe functional deficit from a specific event[57]
* 30 to 50-year-old person with an acute rotator cuff tear secondary to a specific event[57]
* a highly competitive athlete who is primarily involved in overhead or throwing sports
These individuals more often benefit from operative treatment because they are willing to tolerate the risks of surgery to return to their preoperative level of function, and have higher likelihood of a successful outcome.[57] Those who do not respond to, or are unsatisfied with, conservative treatment can seek a surgical opinion.[citation needed]
The three general surgical approaches are arthroscopic, mini open, and open-surgical repair.[37] In the past, small tears were treated arthroscopically, while larger tears would usually require an open procedure. Advances in arthroscopy now allow arthroscopic repair of even the largest tears, and arthroscopic techniques are now required to mobilize many retracted tears. The results match open surgical techniques, while permitting a more thorough evaluation of the shoulder at time of surgery, increasing the diagnostic value of the procedure, as other conditions may simultaneously cause shoulder pain. Arthroscopic surgery also allows for shorter recovery time[37] although differences in postoperative pain or pain medication use are not seen between arthroscopic- and open-surgery.[60] A 2019 review found that the evidence does not support decompression surgery in those with more than 3 months of shoulder pain without a history of trauma.[61]
Even for full-thickness rotator cuff tears, conservative care (i.e., nonsurgical treatment) outcomes are usually reasonably good.[62]
If a significant bone spur is present, any of the approaches may include an acromioplasty, a subacromial decompression, as part of the procedure.[63] Subacromial decompression, removal of a small portion of the acromion that overlies the rotator cuff, aims to relieve pressure on the rotator cuff in certain conditions and promote healing and recovery.[33] Although subacromial decompression may be beneficial in the management of partial and full-thickness tear repair, it does not repair the tear itself and arthroscopic decompression has more recently been combined with "mini-open" repair of the rotator cuff, allowing for the repair of the cuff without disruption of the deltoid origin.[64] The results of decompression alone tend to degrade with time, but the combination of repair and decompression appears to be more enduring.[65] Subacromial decompression may not improve pain, function, or quality of life.[66]
Repair of a complete, full-thickness tear involves tissue suture. The method currently in favor is to place an anchor in the bone at the natural attachment site, with resuture of torn tendon to the anchor. If tissue quality is poor, mesh (collagen, Artelon, or other degradable material) may be used to reinforce the repair. Repair can be performed through an open incision, again requiring detachment of a portion of the deltoid, while a mini-open technique approaches the tear through a deltoid-splitting approach. The latter may cause less injury to muscle and produce better results.[65] Contemporary techniques now use an all arthroscopic approach. Recovery can take as long as three–six months, with a sling being worn for the first one–six weeks.[67] In the case of partial thickness tears, if surgery is undertaken, tear completion (converting the partial tear to a full tear) and then repair, is associated with better early outcomes than transtendinous repairs (where the intact fibres are preserved) and no difference in failure rates.[68]
Biceps tenotomy and tenodesis are often performed concomitantly with rotator cuff repair or as separate procedures, and can also cause shoulder pain. Tenodesis, which may be performed as an arthroscopic or open procedure, generally restores pain free motion it the biceps tendon, or attached portion of the labrum, but can cause pain. Tenotomy is a shorter surgery requiring less rehabilitation, that is more often performed in older patients, though after surgery there can be a cosmetic 'popeye sign' visible in thin arms.[citation needed]
In a small minority of cases where extensive arthritis has developed, an option is shoulder joint replacement (arthroplasty). Specifically, this is a reverse shoulder replacement, a more constrained form of shoulder arthroplasty that allows the shoulder to function well even in the presence of large full thickness rotator cuff tears.[citation needed]
### Biologics[edit]
The main goal in biological augmentation is to enhance healing.[69] There are a number of potential options.[70] These include injecting an individual's own stem cells, growth factors or platelet rich plasma (PRP) into the repair site, and installing scaffolds as biological or synthetic supports to maintain tissue contour.[71][72] A 2013 Cochrane review evaluated PRP and found insufficient evidence to make recommendations.[73] Mesenchymal stem cells have no convincing evidence for their use overall, with quality human trials lacking.[74] The greater tuberosity can also be microfractured to create a small blood clot just lateral to the repair site.[75]
### Rehabilitation[edit]
Rehabilitation after surgery consists of three stages. First, the arm is immobilized so that the muscle can heal. Second, when appropriate, a therapist assists with passive exercises to regain range of motion. Third, the arm is gradually exercised actively, with a goal of regaining and enhancing strength.[76] The empty can and full can exercises are amongst the most effective at isolating and strengthening the supraspinatus.[77]
Following arthroscopic rotator-cuff repair surgery, individuals need rehabilitation and physical therapy.[78] Exercise decreases shoulder pain, strengthens the joint, and improves range of motion. Therapists, in conjunction with the surgeon, design exercise regimens specific to the individual and their injury.[citation needed]
Traditionally, after injury the shoulder is immobilized for six weeks before rehabilitation. However, the appropriate timing and intensity of therapy are subject to debate. Most surgeons advocate using the sling for at least six weeks, though others advocate early, aggressive rehabilitation. The latter group favors the use of passive motion, which allows an individual to move the shoulder without physical effort. Alternatively, some authorities argue that therapy should be started later and carried out more cautiously. Theoretically, that gives tissues time to heal; though there is conflicting data regarding the benefits of early immobilization. A study of rats suggested that it improved the strength of surgical repairs, while research on rabbits produced contrary evidence. Individuals with a history of rotator cuff injury, particularly those recovering from tears, are prone to reinjury. Rehabbing too soon or too strenuously might increase the risk of retear or failure to heal. However, no research has proven a link between early therapy and the incidence of re-tears. In some studies, those who received earlier and more aggressive therapy reported reduced shoulder pain, less stiffness and better range of motion.[78] Other research has shown that accelerated rehab results in better shoulder function.
There is consensus amongst orthopaedic surgeons and physical therapists regarding rotator cuff repair rehabilitation protocols. The timing and duration of treatments and exercises are based on biologic and biomedical factors involving the rotator cuff. For approximately two to three weeks following surgery, an individual experiences shoulder pain and swelling; no major therapeutic measures are instituted in this window other than oral pain medicine and ice. Those at risk of failure should usually be more conservative with rehabilitations.[citation needed]
That is followed by the "proliferative" and "maturation and remodeling" phases of healing, which ensues for the following six to ten weeks. The effect of active or passive motion during any of the phases is unclear, due to conflicting information and a shortage of clinical evidence. Gentle physical therapy guided motion is instituted at this phase, only to prevent stiffness of the shoulder; the rotator cuff remains fragile. At three months after surgery, physical therapy intervention changes substantially to focus on scapular mobilization and stretching of the glenohumeral joint. Once full passive motion is regained (at usually about four to four and a half months after surgery) strengthening exercises are the focus. The strengthening focuses on the rotator cuff and the upper back/scapular stabilizers. Typically at about six months after surgery, most have made a majority of their expected gains.[citation needed]
The objective in repairing a rotator cuff is to enable an individual to regain full function. Surgeons and therapists analyze outcomes in several ways. Based on examinations, they compile scores on tests; some examples are those created by the University of California at Los Angeles and the American Shoulder and Elbow Surgeons. Other outcome measures include the Constant score; the Simple Shoulder Test; and the Disabilities of the Arm, Shoulder and Hand score. The tests assess range of motion and the degree of shoulder function.[citation needed]
Due to the conflicting information about the relative benefits of rehab conducted early or later, an individualized approach is necessary. The timing and nature of therapeutic activities are adjusted according to age and tissue integrity of the repair. Management is more complex in those who have suffered multiple tears.[citation needed]
## Prognosis[edit]
While people with rotator cuff tears may not have any noticeable symptoms, studies have shown that, those with age related tears, over time 40% will have enlargement of the tear over a five-year period. Of those whose tears enlarge, 20% have no symptoms while 80% eventually develop symptoms.[79]
Most usually regain function and experience less pain following surgery. For some, however, the joint continues to hurt. Weakness and a limited range of motion also may persist. Those who report such symptoms frequently are diagnosed with failed rotator cuff syndrome. There is no irrefutable evidence that rotator cuff surgery benefits more than non-surgical management[55] and a percentage of individuals never regain full range of motion after surgery.[80]
Arthroscopic procedures produce "satisfactory results" more than 90 percent of the time. However, 6-8 percent of patients have "incompetent" rotator cuffs because their repaired tendons either fail to heal or develop additional tears.[78] In some cases, persistent rotator cuff type pain after surgery can be due to disease elsewhere. For example, cervical spine disease and can involve neck pain radiating into the shoulder. Suprascapular neuropathy, shoulder impingement, superior labral anterior-posterior (SLAP) tears and arthritis can all mimic rotator cuff disease and cause persistent pain that does not respond to rotator cuff surgery.[citation needed]
## Epidemiology[edit]
Rates of rotator cuff tears by age and sex
Rotator cuff tears are among the most common conditions affecting the shoulder.[13]
A rotator cuff tear can be caused by the weakening of the rotator cuff tendons. This weakening can be caused by age or how often the rotator cuff is used. Adults over the age of 60 are more susceptible to a rotator cuff tear, with the overall frequency of tears increasing with age.[81] By the age of 50 10% of people with normal shoulders have a rotator cuff tear.[82]
In an autopsy study of rotator cuff tears, the incidence of partial tears was 28%, and of complete rupture 30%. Frequently, tears occurred on both sides and occurred more often with females and with increasing age.[83] Other cadaver studies have noted intratendinous tears to be more frequent (7.2%) than bursal-sided (2.4%) or articular-sided tears (3.6%).[84] However, clinically, articular-sided tears are found to be 2 to 3 times more common than bursal-sided tears and among a population of young athletes, articular-sided tears constituted 91% of all partial-thickness tears.[84] Rotator cuff tears may be more common in men between the ages of 50–60, though between 70–80 there is minimal difference across genders.[81][85]
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37. ^ a b c d "Rotator Cuff Tears-OrthoInfo – AAOS". Orthoinfo.aaos.org. 1 May 2011. Retrieved 3 August 2014.
38. ^ a b "Rotator Cuff Injury: Click for Surgery Info and Healing Time". Emedicinehealth.com. 27 March 2014. Retrieved 3 August 2014.
39. ^ McFarland EG, Selhi HS, Keyurapan E (February 2006). "Clinical evaluation of impingement: what to do and what works". The Journal of Bone and Joint Surgery. American Volume. 88 (2): 432–41. doi:10.2106/00004623-200602000-00026. PMID 16475277.
40. ^ a b c Park HB, Yokota A, Gill HS, El Rassi G, McFarland EG (July 2005). "Diagnostic accuracy of clinical tests for the different degrees of subacromial impingement syndrome". The Journal of Bone and Joint Surgery. American Volume. 87 (7): 1446–55. doi:10.2106/JBJS.D.02335. PMID 15995110. S2CID 4823685.
41. ^ a b Sgroi, M; Loitsch, T; Reichel, H; Kappe, T (May 2019). "Diagnostic Value of Clinical Tests for Infraspinatus Tendon Tears". Arthroscopy: The Journal of Arthroscopic & Related Surgery. 35 (5): 1339–1347. doi:10.1016/j.arthro.2018.12.003. PMID 30770251.
42. ^ Jacobson JA (September 2009). "Musculoskeletal ultrasound: focused impact on MRI". AJR. American Journal of Roentgenology. 193 (3): 619–27. doi:10.2214/AJR.09.2841. PMID 19696273. S2CID 23394700.
43. ^ Lenza M, Buchbinder R, Takwoingi Y, Johnston RV, Hanchard NC, Faloppa F (September 2013). "Magnetic resonance imaging, magnetic resonance arthrography and ultrasonography for assessing rotator cuff tears in people with shoulder pain for whom surgery is being considered". The Cochrane Database of Systematic Reviews. 9 (9): CD009020. doi:10.1002/14651858.CD009020.pub2. PMC 6464715. PMID 24065456.
44. ^ a b c Stetson WB, Phillips T, Deutsch A (2005). "The use of magnetic resonance arthrography to detect partial-thickness rotator cuff tears". The Journal of Bone and Joint Surgery. American Volume. 87 Suppl 2 (suppl_2): 81–8. doi:10.2106/JBJS.E.00509. PMID 16326727.
45. ^ Teefey SA, Rubin DA, Middleton WD, Hildebolt CF, Leibold RA, Yamaguchi K (April 2004). "Detection and quantification of rotator cuff tears. Comparison of ultrasonographic, magnetic resonance imaging, and arthroscopic findings in seventy-one consecutive cases". The Journal of Bone and Joint Surgery. American Volume. 86-A (4): 708–16. doi:10.2106/00004623-200404000-00007. PMID 15069134.
46. ^ a b Moosikasuwan JB, Miller TT, Burke BJ (2005). "Rotator cuff tears: clinical, radiographic, and US findings". Radiographics. 25 (6): 1591–607. doi:10.1148/rg.256045203. PMID 16284137. S2CID 23976563.
47. ^ a b c Keener JD, Wei AS, Kim HM, Steger-May K, Yamaguchi K (June 2009). "Proximal humeral migration in shoulders with symptomatic and asymptomatic rotator cuff tears". The Journal of Bone and Joint Surgery. American Volume. 91 (6): 1405–13. doi:10.2106/JBJS.H.00854. PMC 2686133. PMID 19487518.
48. ^ Kim KC, Shin HD, Kim BK, Cha SM, Park JY (June 2012). "Changes in tendon length with increasing rotator cuff tear size". Knee Surgery, Sports Traumatology, Arthroscopy. 20 (6): 1022–6. doi:10.1007/s00167-011-1664-0. PMID 21927954. S2CID 23618302.
49. ^ Howe C, Huber P, Wolf FM, Matsen F (February 2009). "Differential suture loading in an experimental rotator cuff repair". The American Journal of Sports Medicine. 37 (2): 324–9. doi:10.1177/0363546508324308. PMID 18843038. S2CID 25742084.
50. ^ Zumstein MA, Frey E, von Rechenberg B, Frigg R, Gerber C, Meyer DC (May 2012). "Device for lengthening of a musculotendinous unit by direct continuous traction in the sheep". BMC Veterinary Research. 8: 50. doi:10.1186/1746-6148-8-50. PMC 3462135. PMID 22551079.
51. ^ Andarawis-Puri N, Ricchetti ET, Soslowsky LJ (September 2009). "Interaction between the supraspinatus and infraspinatus tendons: effect of anterior supraspinatus tendon full-thickness tears on infraspinatus tendon strain". The American Journal of Sports Medicine. 37 (9): 1831–9. doi:10.1177/0363546509334222. PMC 2746054. PMID 19483078.
52. ^ "Rotator Cuff Tears". American Academy of Orthopaedic Surgeons. "There is no evidence of better results from surgery performed near the time of injury versus later on. For this reason, many doctors first recommend nonsurgical management of rotator cuff tears."
53. ^ Tashjian RZ (October 2012). "Epidemiology, natural history, and indications for treatment of rotator cuff tears". Clinics in Sports Medicine. 31 (4): 589–604. doi:10.1016/j.csm.2012.07.001. PMID 23040548.
54. ^ a b Ryösä, Anssi; Laimi, Katri; Äärimaa, Ville; Lehtimäki, Kaisa; Kukkonen, Juha; Saltychev, Mikhail (3 July 2017). "Surgery or conservative treatment for rotator cuff tear: a meta-analysis". Disability and Rehabilitation. 39 (14): 1357–1363. doi:10.1080/09638288.2016.1198431. ISSN 0963-8288. PMID 27385156. S2CID 4361346.
55. ^ a b Seida JC, LeBlanc C, Schouten JR, Mousavi SS, Hartling L, Vandermeer B, Tjosvold L, Sheps DM (August 2010). "Systematic review: nonoperative and operative treatments for rotator cuff tears". Annals of Internal Medicine. 153 (4): 246–55. doi:10.7326/0003-4819-153-4-201008170-00263. PMID 20621893.
56. ^ "Comparative Effectiveness of Nonoperative and Operative Treatments for Rotator Cuff Tears" (PDF). 2010. Retrieved 9 December 2019.
57. ^ a b c d e f g h i j Mantone JK, Burkhead WZ, Noonan J (April 2000). "Nonoperative treatment of rotator cuff tears". The Orthopedic Clinics of North America. 31 (2): 295–311. doi:10.1016/s0030-5898(05)70149-8. PMID 10736398.
58. ^ Cumpston, Miranda; Johnston, Renea V; Wengier, Lainie; Buchbinder, Rachelle (7 July 2009). "Topical glyceryl trinitrate for rotator cuff disease". Cochrane Database of Systematic Reviews (3): CD006355. doi:10.1002/14651858.cd006355.pub2. ISSN 1465-1858. PMID 19588386.
59. ^ Wirth MA, Basamania C, Rockwood CA (January 1997). "Nonoperative management of full-thickness tears of the rotator cuff". The Orthopedic Clinics of North America. 28 (1): 59–67. doi:10.1016/s0030-5898(05)70264-9. PMID 9024431.
60. ^ Williams G, Kraeutler MJ, Zmistowski B, Fenlin JM (September 2014). "No difference in postoperative pain after arthroscopic versus open rotator cuff repair". Clinical Orthopaedics and Related Research. 472 (9): 2759–65. doi:10.1007/s11999-014-3715-6. PMC 4117892. PMID 24912870.
61. ^ Vandvik PO, Lähdeoja T, Ardern C, Buchbinder R, Moro J, Brox JI, Burgers J, Hao Q, Karjalainen T, van den Bekerom M, Noorduyn J, Lytvyn L, Siemieniuk RA, Albin A, Shunjie SC, Fisch F, Proulx L, Guyatt G, Agoritsas T, Poolman RW (February 2019). "Subacromial decompression surgery for adults with shoulder pain: a clinical practice guideline". BMJ. 364: l294. doi:10.1136/bmj.l294. hdl:10138/313758. PMID 30728120. S2CID 73425732.
62. ^ Baydar M, Akalin E, El O, Gulbahar S, Bircan C, Akgul O, Manisali M, Torun Orhan B, Kizil R (April 2009). "The efficacy of conservative treatment in patients with full-thickness rotator cuff tears". Rheumatology International. 29 (6): 623–8. doi:10.1007/s00296-008-0733-2. PMID 18850322. S2CID 7087636.
63. ^ "Rotator cuff injury Definition – Diseases and Conditions". Mayo Clinic. 19 February 2014. Retrieved 3 August 2014.
64. ^ Norberg FB, Field LD, Savoie FH (January 2000). "Repair of the rotator cuff. Mini-open and arthroscopic repairs". Clinics in Sports Medicine. 19 (1): 77–99. doi:10.1016/s0278-5919(05)70297-0. PMID 10652666.
65. ^ a b Lyons PM, Orwin JF (April 1998). "Rotator cuff tendinopathy and subacromial impingement syndrome". Medicine and Science in Sports and Exercise. 30 (4 Suppl): S12–7. doi:10.1097/00005768-199804001-00003. PMID 9565951.
66. ^ Karjalainen, Teemu V; Jain, Nitin B; Page, Cristina M; Lähdeoja, Tuomas A; Johnston, Renea V; Salamh, Paul; Kavaja, Lauri; Ardern, Clare L; Agarwal, Arnav (17 January 2019). "Subacromial decompression surgery for rotator cuff disease". Cochrane Database of Systematic Reviews. 1: CD005619. doi:10.1002/14651858.cd005619.pub3. ISSN 1465-1858. PMC 6357907. PMID 30707445.
67. ^ "Rotator cuff repair". MedlinePlus. Retrieved 29 September 2009.
68. ^ Jordan, Robert W.; Bentick, Kieran; Saithna, Adnan (October 2018). "Transtendinous repair of partial articular sided supraspinatus tears is associated with higher rates of stiffness and significantly inferior early functional scores than tear completion and repair: A systematic review". Orthopaedics & Traumatology: Surgery & Research. 104 (6): 829–837. doi:10.1016/j.otsr.2018.06.007. PMID 30036723.
69. ^ Hogan, MV (2011). "Tissue engineering solutions for tendon repair". J Am Acad Orthop Surg. 19 (3): 134–42. doi:10.5435/00124635-201103000-00002. PMID 21368094. S2CID 23149344.
70. ^ Schär, MO; Rodeo, SA; Zumstein, MA (October 2014). "Biologics in rotator cuff surgery". Shoulder & Elbow. 6 (4): 239–44. doi:10.1177/1758573214536536. PMC 4935033. PMID 27582941.
71. ^ Saltzman, BM (2016). "Does the Use of Platelet-Rich Plasma at the Time of Surgery Improve Clinical Outcomes in Arthroscopic Rotator Cuff Repair When Compared With Control Cohorts? A Systematic Review of Meta-analyses". Arthroscopy. 32 (5): 906–918. doi:10.1016/j.arthro.2015.10.007. PMID 26725454.
72. ^ Cai, YZ; Zhang, C; Lin, XJ (December 2015). "Efficacy of platelet-rich plasma in arthroscopic repair of full-thickness rotator cuff tears: a meta-analysis". Journal of Shoulder and Elbow Surgery. 24 (12): 1852–9. doi:10.1016/j.jse.2015.07.035. PMID 26456434.
73. ^ Moraes, VY; Lenza, M; Tamaoki, MJ; Faloppa, F; Belloti, JC (23 December 2013). Moraes, Vinícius Y (ed.). "Platelet-rich therapies for musculoskeletal soft tissue injuries". The Cochrane Database of Systematic Reviews (12): CD010071. doi:10.1002/14651858.CD010071.pub2. PMID 24363098.
74. ^ Pas (2017). "No evidence for the use of stem cell therapy for tendon disorders: a systematic review". Br J Sports Med. 51 (13): 996–1002. doi:10.1136/bjsports-2016-096794. PMID 28077355.
75. ^ McCormack, RA; Shreve, M; Strauss, EJ (2014). "Biologic augmentation in rotator cuff repair—should we do it, who should get it, and has it worked?". Bulletin of the Hospital for Joint Disease (2013). 72 (1): 89–96. PMID 25150331.
76. ^ "Rotator Cuff Tears: Surgical Treatment Options". orthoinfo.aaos.org. 2012. Retrieved 3 May 2012.
77. ^ Takeda Y, Kashiwaguchi S, Endo K, Matsuura T, Sasa T (2002). "The most effective exercise for strengthening the supraspinatus muscle: evaluation by magnetic resonance imaging". The American Journal of Sports Medicine. 30 (3): 374–81. doi:10.1177/03635465020300031201. PMID 12016078. S2CID 28673200.
78. ^ a b c Strauss EJ, McCormack RA, Onyekwelu I, Rokito AS (May 2012). "Management of failed arthroscopic rotator cuff repair". The Journal of the American Academy of Orthopaedic Surgeons. 20 (5): 301–9. doi:10.5435/jaaos-20-05-301. PMID 22553102. S2CID 2650097.
79. ^ Tempelhof S, Rupp S, Seil R (1999). "Age-related prevalence of rotator cuff tears in asymptomatic shoulders". Journal of Shoulder and Elbow Surgery. 8 (4): 296–9. doi:10.1016/S1058-2746(99)90148-9. PMID 10471998.
80. ^ Chung SW, Huong CB, Kim SH, Oh JH (February 2013). "Shoulder stiffness after rotator cuff repair: risk factors and influence on outcome". Arthroscopy. 29 (2): 290–300. doi:10.1016/j.arthro.2012.08.023. PMID 23290184.
81. ^ a b Yamamoto A, Takagishi K, Osawa T, Yanagawa T, Nakajima D, Shitara H, Kobayashi T (January 2010). "Prevalence and risk factors of a rotator cuff tear in the general population". Journal of Shoulder and Elbow Surgery. 19 (1): 116–20. doi:10.1016/j.jse.2009.04.006. PMID 19540777.
82. ^ "Rotator Cuff Pain".
83. ^ Jerosch J, Müller T, Castro WH (1991). "The incidence of rotator cuff rupture. An anatomic study". Acta Orthopaedica Belgica. 57 (2): 124–9. PMID 1872155.
84. ^ a b Matava MJ, Purcell DB, Rudzki JR (September 2005). "Partial-thickness rotator cuff tears". The American Journal of Sports Medicine. 33 (9): 1405–17. doi:10.1177/0363546505280213. PMID 16127127. S2CID 29959313.
85. ^ Minagawa H, Yamamoto N, Abe H, Fukuda M, Seki N, Kikuchi K, Kijima H, Itoi E (2013). "Prevalence of symptomatic and asymptomatic rotator cuff tears in the general population: From mass-screening in one village". Journal of Orthopaedics. 10 (1): 8–12. doi:10.1016/j.jor.2013.01.008. PMC 3768248. PMID 24403741.
* This article contains text from the public domain document "Questions and Answers about Shoulder Problems", NIH Publication No. 01-4865, available from URL http://www.niams.nih.gov/hi/topics/shoulderprobs/shoulderqa.htm
## External links[edit]
Wikimedia Commons has media related to Rotator cuff tear.
* Rotator Cuff Tears. Wheeless' Textbook of Orthopedics. A description of rotator cuff tears from Wheeless'
* Physiotherpy program for rortator cuff tears
Classification
D
* ICD-10: M75.1, S46.0
* ICD-9-CM: 726.1 727.61, 840.4
* MeSH: D000070636
* DiseasesDB: 32230
External resources
* MedlinePlus: 007207
* eMedicine: radio/894 pmr/125 radio/889 sports/115
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
* v
* t
* e
Dislocations/subluxations, sprains and strains
Joints and
ligaments
Head and neck
* Dislocation of jaw
* Whiplash
Shoulder and upper arm
* GH (Dislocated shoulder)
* AC (Separated shoulder)
* ALPSA lesion
* SLAP tear
* Bankart lesion
Elbow and forearm
* Pulled elbow
* Gamekeeper's thumb
Hip and thigh
* Hip dislocation
Knee and leg
* Tear of meniscus
* Anterior cruciate ligament injury
* Unhappy triad
* Patellar dislocation
* Knee dislocation
Ankle and foot
* Sprained ankle (High ankle sprain)
* Turf toe
Muscles and
tendons
Shoulder and upper arm
* Rotator cuff tear
Hip and thigh
* Pulled hamstring
Knee and leg
* Patellar tendon rupture
* Achilles tendon rupture
* Shin splints
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Rotator cuff tear
|
c0151448
| 28,350 |
wikipedia
|
https://en.wikipedia.org/wiki/Rotator_cuff_tear
| 2021-01-18T18:57:46 |
{"mesh": ["D000070636"], "umls": ["C0151448"], "icd-9": ["726.1", "840.4", "727.61"], "icd-10": ["M75.1", "S46.0"], "wikidata": ["Q3518022"]}
|
See also: List of target antigens in pemphigus
Pemphigus herpetiformis
Other namesAcantholytic herpetiform dermatitis, Herpetiform pemphigus, Mixed bullous disease, Pemphigus controlled by sulfapyridine
SpecialtyDermatology
Pemphigus herpetiformis is a cutaneous condition, a clinical variant of pemphigus that combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus.[1]
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 See also
* 4 References
## Pathophysiology[edit]
Pemphigus Herpetiformis is an IGg mediated autoantibodies that affect the epidermal layer of the skin.[2]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (July 2018)
## See also[edit]
* Adult linear IgA disease
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Sandhu, Neil (2019-01-09). "Pemphigus Herpetiformis: Background, Pathophysiology, Epidemiology". Neil Sandhu, MD Dermatologist (Medical/Cosmetics) and Mohs Surgeon, Gulf Coast Dermatology. Cite journal requires `|journal=` (help)
This dermatology 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
|
Pemphigus herpetiformis
|
c1737229
| 28,351 |
wikipedia
|
https://en.wikipedia.org/wiki/Pemphigus_herpetiformis
| 2021-01-18T18:28:11 |
{"icd-10": ["L10.2"], "orphanet": ["208524"], "synonyms": [], "wikidata": ["Q3899000"]}
|
Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked.
Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent.
Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years.
Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.
## Frequency
In the United States, lung cancer is the second most commonly diagnosed cancer, after breast cancer, accounting for about one-quarter of all cancer diagnoses. It is estimated that more than 222,500 people develop lung cancer each year. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Lung cancer is the leading cause of cancer deaths, accounting for an estimated 27 percent of all cancer deaths in the United States.
## Causes
Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division (proliferation) or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases of lung cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the lung. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in lung cancer cells. In rare cases, the genetic change is inherited and is present in all the body's cells (germline mutations).
Somatic mutations in the TP53, EGFR, and KRAS genes are common in lung cancers. The TP53 gene provides instructions for making a protein, called p53, that is located in the nucleus of cells throughout the body, where it attaches (binds) directly to DNA. The protein regulates cell growth and division by monitoring DNA damage. When DNA becomes damaged, p53 helps determine whether the DNA will be repaired or the cell will self-destruct (undergo apoptosis). The EGFR and KRAS genes each provide instructions for making a protein that is embedded within the cell membrane. When these proteins are turned on (activated) by binding to other molecules, signaling pathways are triggered within cells that promote cell proliferation.
TP53 gene mutations result in the production of an altered p53 protein that cannot bind to DNA. The altered protein cannot regulate cell proliferation effectively and allows DNA damage to accumulate in cells. Such cells may continue to divide in an uncontrolled way, leading to tumor growth. Mutations in the EGFR or KRAS gene lead to the production of a protein that is constantly turned on (constitutively activated). As a result, cells constantly receive signals to proliferate, leading to tumor formation. When these genetic changes occur in cells in the lungs, lung cancer develops.
Mutations in many other genes have been found to recur in lung cancer cases. Most of these genes are involved in the regulation of gene activity (expression), cell proliferation, the process by which cells mature to carry out specific functions (differentiation), and apoptosis.
Researchers have identified many lifestyle and environmental factors that expose individuals to cancer-causing compounds (carcinogens) and increase the rate at which somatic mutations occur, contributing to a person's risk of developing lung cancer. The greatest risk factor is long-term tobacco smoking, which increases a person's risk of developing lung cancer 25-fold. Other risk factors include exposure to air pollution, radon, asbestos, certain metals and chemicals, or secondhand smoke; long-term use of hormone replacement therapy for menopause; and a history of lung disease such as tuberculosis, emphysema, or chronic bronchitis. A history of lung cancer in closely related family members is also an important risk factor; however, because relatives with lung cancer are frequently smokers, it is unclear whether the increased risk is the result of genetic factors or exposure to secondhand smoke.
### Learn more about the genes associated with Lung cancer
* ALK
* BRAF
* CDKN2A
* EGFR
* KRAS
* MAP2K1
* NF1
* NRAS
* PIK3CA
* PRKN
* PTEN
* RB1
* RET
* RIT1
* SMARCA4
* STK11
* TP53
Additional Information from NCBI Gene:
* DDR2
* DLEC1
* ERBB2
* IRF1
* KEAP1
* MAP3K8
* MET
* NRG1
* PPP2R1B
* RASSF1
* ROS1
* SLC22A18
## Inheritance Pattern
Most cases of lung cancer are not related to inherited genetic changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung.
When lung cancer is related to inherited genetic changes, the cancer risk follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing the disease. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop lung cancer.
*[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
|
Lung cancer
|
c0007120
| 28,352 |
medlineplus
|
https://medlineplus.gov/genetics/condition/lung-cancer/
| 2021-01-27T08:25:23 |
{"gard": ["9344"], "mesh": ["D002282"], "omim": ["211980"], "synonyms": []}
|
## Clinical Features
Seeger et al. (1970) described brother and sister with a 'new' immunologic disorder, characterized by defective cellular and humoral immunity, associated bone marrow aplasia, deficiency of IgG and IgM, and normal IgA. One patient developed graft-versus-host reaction (see 614395) as a complication of blood transfusion. Lymphopenia and candidiasis developed. The progressive nature beginning in the second year of life was emphasized.
Misc \- Candidiasis Inheritance \- Autosomal recessive Immunology \- Defective cellular immunity \- Defective humoral immunity \- IgM deficiency \- IgG deficiency \- Normal IgA Heme \- Bone marrow aplasia \- Lymphopenia ▲ 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
|
LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
|
c1855473
| 28,353 |
omim
|
https://www.omim.org/entry/247630
| 2019-09-22T16:25:45 |
{"mesh": ["C565430"], "omim": ["247630"]}
|
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
*[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
|
9q21.13 microdeletion syndrome
|
None
| 28,354 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=531151
| 2021-01-23T19:06:29 |
{}
|
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-34 (EIEE34) is caused by homozygous or compound heterozygous mutation in the SLC12A5 gene (606726) on chromosome 20q12.
Description
Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).
For a discussion of genetic heterogeneity of EIEE, see 308350.
Clinical Features
Stodberg et al. (2015) reported 4 children from 2 unrelated families with EIEE presenting as epilepsy of infancy with migrating focal seizures. Between 6 weeks and 4 months of age, the patients presented with focal seizures manifest as eye deviation, unresponsiveness, apnea, hemiclonic twitching, and tonic and atonic seizures. There was global developmental regression after onset of seizures, and the seizures were pharmacoresistant. EEG showed variable foci of epileptic activity as well as interictal diffuse slowing and multifocal spikes; at least 1 patient had status epilepticus with migrating foci. Brain imaging showed global cerebral atrophy and delayed myelin maturation of the white matter. Some patients showed hypotonia and decreased head circumference. All patients had significantly delayed psychomotor development.
Inheritance
The transmission pattern of EIEE34 in the families reported by Stodberg et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 children from 2 unrelated families with EIEE34, Stodberg et al. (2015) identified compound heterozygous or homozygous missense mutations in the SLC12A5 gene (606726.0001-606726.0003). The mutations were found by exome sequencing and segregated with the disorder in the families. In vitro functional expression studies showed that the mutations caused decreased membrane expression, impaired posttranslational modification, and a loss of transporter function, resulting in impaired normal synaptic inhibition and promotion of neuronal excitability.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Decreased head circumference NEUROLOGIC Central Nervous System \- Normal early development \- Developmental regression after seizure onset \- Intellectual disability \- Motor disability \- Seizures, focal, variable types \- Migrating focal seizures \- Multifocal epileptiform activity seen on EEG \- Diffuse background slowing in interictal period seen on EEG \- Cerebral atrophy \- Delayed myelination MISCELLANEOUS \- Onset in first weeks of months of life \- Seizures are refractory \- Two unrelated families have been reported (last curated November 2015) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (SLC12A5, 606726.0001 ) ▲ 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
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
c4225257
| 28,355 |
omim
|
https://www.omim.org/entry/616645
| 2019-09-22T15:48:22 |
{"doid": ["0080460"], "omim": ["616645"], "orphanet": ["293181"], "synonyms": ["MMPEI", "MMPSI", "MPEI", "MPSI", "Malignant migrating partial epilepsy of infancy", "Migrating partial epilepsy of infancy", "Migrating partial seizures of infancy"], "genereviews": ["NBK537476"]}
|
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).
For evidence of autosomal recessive inheritance of an isolated variety of nystagmus, see review by Waardenburg (1962), and pedigrees in Waardenburg (1963).
Neuro \- Nystagmus, isolated Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE
|
c3151571
| 28,356 |
omim
|
https://www.omim.org/entry/257400
| 2019-09-22T16:24:11 |
{"omim": ["257400"]}
|
A number sign (#) is used with this entry because of evidence that palmoplantar keratoderma with deafness is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.
Clinical Features
Sharland et al. (1992) reported a family that appeared to validate a syndrome of palmoplantar hyperkeratosis and sensorineural deafness as an autosomal dominant disorder. Male-to-male transmission was observed. Progressive, bilateral, high-frequency sensorineural hearing loss had its onset in early childhood. Progressive hyperkeratosis of the palms and soles, the only ectodermal feature, had its onset in mid-childhood.
Verbov (1987) described a 3-generation pedigree of hereditary palmoplantar keratoderma with deafness. The father of the proband was incorrectly shown as being deaf in the 1987 publication due to misinformation regarding parentage. Fitzgerald and Verbov (1996) corrected the pedigree and provided follow-up on the affected individuals and subsequently born affected children.
Kelsell et al. (1997) studied the kindred reported by Verbov (1987) and Fitzgerald and Verbov (1996). From a clinical reevaluation, they concluded that it was unlikely that the same mutation resulted in both palmoplantar keratoderma and deafness, since there were 3 individuals who had the skin disorder but not the profound hearing loss. Haplotype analysis suggested linkage of the skin disorder with microsatellite DNA markers located on 13q11-q12. Three disease loci had been localized to this area: autosomal dominant nonsyndromic deafness (DFNA3; 601544), autosomal recessive nonsyndromic deafness (DFNB1; 220290), and the autosomal dominant skin disease Clouston hidrotic ectodermal dysplasia (129500).
Inheritance
The transmission pattern of palmoplantar hyperkeratosis and sensorineural deafness in the family reported Sharland et al. (1992) was consistent with autosomal dominant inheritance.
Molecular Genetics
Heathcote et al. (2000) identified a missense mutation in the GJB2 gene (121011.0015) segregating with the phenotype in the family reported by Sharland et al. (1992) with deafness and palmoplantar keratoderma. Heathcote et al. (2000) proposed that the mutation, which lies in a highly conserved region of the gene, may disrupt the structure of an extracellular loop and, consequently, gap junction formation.
In a 4-generation Turkish family segregating autosomal dominant deafness and palmoplantar keratoderma, Uyguner et al. (2002) identified a missense mutation in the GJB2 gene (121011.0026). The age of onset and progression of hearing loss were variable among affected family members, but they all had more severe impairment at higher hearing frequencies.
In a 40-year-old German woman, her 9-year-old daughter, and her 2-year-old son with focal palmoplantar keratoderma and severe progressive sensorineural deafness, de Zwart-Storm et al. (2008) identified heterozygosity for a mutation in the GJB2 gene (H73R; 121011.0038). The affected sibs had much less pronounced skin alterations than their mother. The mutation was not found in unaffected family members or in 100 unrelated German controls.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, high frequency, slowly progressive (onset in early childhood) SKIN, NAILS, & HAIR Skin \- Palmoplantar hyperkeratosis MISCELLANEOUS \- Allelic to deafness, autosomal recessive 1, ( 220290 ), deafness, autosomal dominant 3, ( 601544 ), Vohwinkel syndrome, ( 124500 ), keratitis-ichthyosis-deafness syndrome, ( 148210 ), hystrix-like ichthyosis with deafness, ( 602540 ), Bart-Pumphrey syndrome, ( 149200 ) MOLECULAR BASIS \- Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0015 ) \- Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, 590080.0002 ) ▲ 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
|
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
|
c1835672
| 28,357 |
omim
|
https://www.omim.org/entry/148350
| 2019-09-22T16:39:17 |
{"mesh": ["C536152"], "omim": ["148350"], "orphanet": ["2202"]}
|
A number sign (#) is used with this entry because the autosomal dominant form of generalized thyroid hormone resistance is caused by mutation in the thyroid hormone receptor gene (THRB; 190160). An autosomal recessive form of the disorder (274300) is caused by mutation in the same gene, as is selective pituitary resistance to thyroid hormone (145650).
Clinical Features
Brooks et al. (1981) found thyroid hormone resistance in 8 persons in 4 generations of a kindred. All were clinically euthyroid but all had goiters and markedly increased serum thyroid hormone levels. Serum thyrotropin (TSH) levels were normal or slightly elevated and responded normally to the administration of thyrotropin-releasing hormone (TRH) and L-triiodothyronine. The kindred had 3 instances of male-to-male transmission. Dominant inheritance has also been noted by Lamberg et al. (1975), Elewaut et al. (1976), and Maxon et al. (1980). A recessive form of thyroid hormone resistance is also well substantiated (see 274300). Gharib and Klee (1985) observed a family with 6 affected persons in 4 sibships of 3 generations of a family. Of the 6, 5 had goiter and all had increased concentrations of triiodothyronine and free thyroxine without symptoms or signs of hyperthyroidism. Basal serum levels of TSH were normal in all 6; in the 4 tested, these levels responded normally to TRH. This is, then, a form of familial euthyroid hyperthyroxinemia not due to abnormality in the binding proteins, albumin ('dysalbuminemic hyperthyroxinemia'; 103600) or prealbumin (176300). Hopwood et al. (1986) described 2 affected families with involvement of 2 or more generations and examples of male-to-male transmission in each. They emphasized the probable frequency of this condition, particularly in children. Thyrotoxicosis is often suspected because of the goiter and the elevated thyroxine and triiodothyronine levels. Misdiagnosis can have obvious ill effects. Sakurai et al. (1989) stated that about 200 cases of generalized resistance to thyroid hormone have been described. They demonstrated the defect in father and son. The proband was 6.5 years when first suspected of having this disorder. Delayed verbal expression led to a diagnosis of attention-deficit/hyperactivity disorder at age 3. At age 5.5, thyroid gland enlargement and elevated serum thyroxine and triiodothyronine were interpreted as hyperthyroidism but specific therapy for this condition was not successful. Indeed, normalization of the thyroid hormone levels in blood slowed his growth rate and strikingly increased TSH concentration. His verbal IQ was 85% but his performance IQ was 120% of the standard score. The father also had a history of delayed speech development, hyperactivity, and learning disability but later obtained higher education including a master's degree. Physical examination was normal except for minimal thyroid gland enlargement. In studies of 18 families with 49 persons with generalized resistance to thyroid hormone, Hauser et al. (1993) found a high frequency of attention deficit/hyperactivity disorder in the affected individuals as children.
See the review of the syndromes of resistance to thyroid hormone by Refetoff et al. (1993).
Mapping
Bale et al. (1988) found no recombination between generalized thyroid hormone resistance and RFLPs of the ERBA2 (THRB) gene; the maximum lod score was 3.91 at theta = 0.0 (Usala et al., 1988). The family studied was 'kindred A' of Magner et al. (1986). Usala et al. (1990) showed linkage between GRTH and ERBA2 in 2 other families (kindreds B and D); the combined maximum lod score for the 3 kindreds was 5.77 at a recombination fraction of 0.0.
Molecular Genetics
In a father and son with generalized resistance to thyroid hormone, Sakurai et al. (1989) identified heterozygosity for a missense mutation in the THRB gene (190160.0001).
In affected members of a family with GRTH, originally reported by Magner et al. (1986) as 'kindred A,' Usala et al. (1990) identified a mutation in the THRB gene (190160.0002). A mutation in the THRB gene appears to result in abnormalities of thyroid hormone action in many tissues: in addition to inappropriate secretion of TSH from the pituitary, affected members of the kindred showed delayed bone age and short stature. Most also showed mild mental retardation, diminished or inappropriately normal basal metabolic rates, and hepatic resistance to thyroid hormone (relatively low sex hormone binding globulin and relatively high cholesterol).
Generalized thyroid hormone resistance is a notable example of a phenotype which can be either completely recessive or completely dominant even though the causative mutations are in the same gene. The dominant forms represent dominant-negative mutations in which the mutant gene product interferes with the function of the normal receptors; the completely recessive forms are due to a deletion of the THRB gene (see 190160.0003).
In 10 affected members of a family known as 'kindred D,' in which generalized thyroid hormone resistance segregated as an autosomal dominant, Usala et al. (1991) identified heterozygosity for a mutation in the THRB gene (190160.0004). The mutation was not found in 6 unaffected members of the family. Patients from kindred D had cognitive impairments similar to those in kindred A, but did not have short stature and displayed significant resistance to the chronotropic effects of thyroid hormone.
### Genetic Heterogeneity
Weiss et al. (1996) reported a family in which dominantly inherited GRTH was not associated with abnormalities in the TR-alpha (THRA; 190120) or TRHB genes, as determined by sequencing and linkage analysis. Affected family members manifested a severe form of GRTH, with reduced responses of thyrotrophs and peripheral tissues requiring 8 to 10 fold the normal replacement doses of L-T4 and L-T3. No other endocrine abnormalities were detected. The defect developed de novo in the proposita and was transmitted to her 2 children from unrelated fathers. An abnormal cofactor with a specific function in the regulation of thyroid hormone action was probably involved in the expression of the GRTH phenotype in this family.
Pohlenz et al. (1999) reported 5 families with GRTH who had no nucleotide substitutions, deletions, or insertions in the coding and noncoding portions of TR-beta-1- and TR-beta-2-specific and common exons. Furthermore, linkage analysis excluded involvement of the TR-beta and TR-alpha genes in 2 and 3 of the 5 families, respectively. The GRTH phenotype in the patients without TR-beta gene defects was not different from that in patients with GRTH due to TR-beta gene mutations in terms of clinical presentation and reduced responsiveness of the pituitary and peripheral tissues to TH. However, the degree of thyrotroph hyposensitivity to TH appeared to be among the more severe, similar to that of patients with mutant TR-betas that have more than 50-fold reduction of T3 binding affinity and strong dominant-negative effect. In these 5 families and another with non-TR-alpha/non-TR-beta GRTH that had been previously identified (Weiss et al., 1996), there was evidence for dominant inheritance in 2 families and for a novel defect or recessive inheritance in the remaining 4 families. The authors found that GRTH without structural TR-beta defects occurred in about 10% of families expressing the classic phenotype of TH hyposensitivity, and TR-beta and TR-alpha gene involvement had been excluded in 5%. They postulated that a cofactor that interacts with TR was potentially responsible for the manifestation of GRTH in these families. As affected subjects were not infertile, the high prevalence of putative neomutations and the low rate of transmission in this non-TR form of GRTH may be due to reduced survival of embryos harboring the defect.
Mamanasiri et al. (2006) reported a Turkish family in which 2 sibs with RTH inherited a THRB mutation (190160.0023) from their father, who was mosaic for the mutation. They suggested that the possibility of mosaicism should be considered in subjects with RTH without apparent mutations in the THRB gene.
Endocrine \- Thyroid hormone resistance \- Clinically euthyroid Neuro \- Delayed speech development \- Childhood attention deficit/hyperactivity disorder Neck \- Goiter Lab \- Markedly increased serum thyroid hormone levels \- Normal or slightly increased serum thyrotropin (TSH) \- Normal response to administration of thyrotropin-releasing hormone (TRH) and L-triiodothyronine Inheritance \- Autosomal dominant form \- also a recessive form ▲ 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
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
c2940786
| 28,358 |
omim
|
https://www.omim.org/entry/188570
| 2019-09-22T16:32:32 |
{"doid": ["11633"], "mesh": ["D018382"], "omim": ["188570"], "orphanet": ["3221"], "synonyms": ["Alternative titles", "GTHR", "THYROID HORMONE UNRESPONSIVENESS", "HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES"]}
|
A number sign (#) is used with this entry because of evidence that syndromic X-linked mental retardation-32 (MRXS32) is caused by mutation in the CLIC2 gene (300138) on chromosome Xq28. One such family has been reported.
Clinical Features
Takano et al. (2012) reported a family (K8015) in which 2 brothers had profound mental retardation. Both had delayed psychomotor development beginning in infancy and had little or no speech development. Both also had seizures, large joint contractures, and abnormal positioning of the thumbs. One patient had hydrocephalus and 1 had spastic quadriplegia as an adult. Both patients were confined to a residential institution in childhood. Cardiac problems became apparent in their forties. Both had an enlarged heart resulting in congestive heart failure and valvular insufficiency, and 1 patient had atrial fibrillation. The patients did not have apparent abnormalities of skeletal muscles.
Inheritance
The transmission pattern of MRX32 in family K8015 reported by Takano et al. (2012) was consistent with X-linked recessive inheritance.
Molecular Genetics
Using exome capture and deep sequencing of genes on the X chromosome in a family with X-linked syndromic mental retardation, Takano et al. (2012) identified a missense mutation in the CLIC2 gene (H101Q; 300138.0001). The mother, who carried the mutation in heterozygous state, was considered by family members to have a learning disability. In vitro functional expression studies showed that the mutant protein had increased thermal stability compared to wildtype and caused an increase in both the skeletal RYR1 (180901) and cardiac RYR2 (180902) channels being in the open probability states, which was a reversal of the effect of wildtype CLIC2. Three-dimensional predictions indicated that the H101Q mutation affected the binding affinity to RYR channels, resulting in stronger and more stable binding compared to wildtype. Overall, the data suggested that mutant CLIC2 would stimulate the release of calcium by keeping the RYR channels in the open state, resulting in overly active RYR2 in heart muscle with excess potential firing in those cells.
INHERITANCE \- X-linked recessive HEAD & NECK Ears \- Large ears CARDIOVASCULAR Heart \- Cardiomegaly \- Congestive heart failure \- Valvular insufficiency \- Atrial flutter (rare) GENITOURINARY External Genitalia (Male) \- Macroorchidism SKELETAL Spine \- Kyphoscoliosis (rare) Limbs \- Contractures of the large joints Hands \- Abnormal positioning of the thumbs NEUROLOGIC Central Nervous System \- Global developmental delay \- Mental retardation, profound \- Lack of speech \- Seizures \- Spasticity (rare) \- Hydrocephalus (rare) MISCELLANEOUS \- One family with 2 affected brothers has been reported (last curated November 2012) \- Female carriers may show mild learning disabilities MOLECULAR BASIS \- Caused by mutation in the chloride intracellular channel 2 gene (CLIC2, 300138.0001 ) ▲ 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
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
|
c3550913
| 28,359 |
omim
|
https://www.omim.org/entry/300886
| 2019-09-22T16:19:19 |
{"doid": ["0060828"], "omim": ["300886"], "orphanet": ["324410"], "synonyms": []}
|
A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.
*[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
|
Gastrocutaneous syndrome
|
c1850899
| 28,360 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2069
| 2021-01-23T18:58:52 |
{"gard": ["2438"], "mesh": ["C535651"], "omim": ["137270"], "umls": ["C1850899"]}
|
A plate with laddu
From April 20 to May 8, 2016, at least 33 people, including five children, died in District Layyah, Punjab Pakistan after eating a purposely poisoned laddu, a baked confection.[1] Testing of the confectioneries revealed they were laced with the highly toxic insecticide chlorfenapyr. One of the owners, Khalid Mahmood confessed to mixing the pesticide into the sweets after an argument with his brother and co-owner.[2]
## Contents
* 1 Causes
* 2 Aftermath
* 3 See also
* 4 References
## Causes[edit]
A pesticide shop, close by the bakery where the sweets were bought, was being renovated, and the owner had left his products at the bakery for safekeeping.[3] Mahmood may have used a small packet in the sweet mixture.[4]
A man bought 5 kg of laddu for the celebration of a newborn on 17 April. At least 50 people consumed the sweets and ten of them died the same day.[3] On 25 April, the death toll rose to 23 with 52 people still being treated at various hospitals.[4] On 1 May the death toll rose to 33 with 13 people in hospital.[5][3] The baby lost his father, six of his uncles and one aunt.
## Aftermath[edit]
Two shop owners, and one worker, were initially arrested.[3] Two weeks later the police announced that Mahmood had confessed.
The Prime Minister, Nawaz Sharif, stated that the incident would be thoroughly investigated, and ordered the police to find and take action against the responsible people.[6]
The Chief Minister of Punjab, Shehbaz Sharif, visited Layyah on 2 May, and expressed his condolences and regrets for the loss of life.[6]
## See also[edit]
* 2012 Pakistan fake medicine crisis
* 1858 Bradford sweets poisoning
## References[edit]
1. ^ "Pakistan poisoned sweets death toll climbs to 33". AFP. 1 May 2016.
2. ^ "Sweet shop owner admits killing 30 people with poison-laced sweets". The Independent. Retrieved 20 January 2017.
3. ^ a b c d Agence France-Presse (1 May 2016). "Mass Food Poisoning Kills 33 Including 5 Children In Pakistan's Multan". NDTV.com.
4. ^ a b "Poisoned sweets kill 23 people in Pakistan". ABC News.
5. ^ Liza van Lonkhuyzen. "Minstens 33 doden in Pakistan door gif in snoepgoed". nrc.nl.
6. ^ a b "Toxic sweets case: CM Punjab visits Layyah, expresses grief over deaths - Pakistan - Dunya News". dunyanews.tv.
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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
|
2016 Punjab sweet poisoning
|
None
| 28,361 |
wikipedia
|
https://en.wikipedia.org/wiki/2016_Punjab_sweet_poisoning
| 2021-01-18T18:39:15 |
{"wikidata": ["Q23992219"]}
|
## Description
Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.
Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts (603003), hepatolithiasis, and primary sclerosing cholangitis (613806), are likely contributors (summary by Chan-on et al., 2013). Overall, the majority of patients lack such identifiable risk factors (summary by Jiao et al., 2013).
Pathogenesis
Hepatocellular carcinoma (HCC; 114550) and intrahepatic cholangiocarcinoma (ICC) differ markedly with regard to their morphology, metastatic potential, and responses to therapy. Seehawer et al. (2018) demonstrated that the hepatic microenvironment epigenetically shapes lineage commitment in mosaic mouse models of liver tumorigenesis. Whereas a necroptosis-associated hepatic cytokine microenvironment determines ICC outgrowth from oncogenically transformed hepatocytes, hepatocytes containing identical oncogenic drivers give rise to HCC if they are surrounded by apoptotic hepatocytes. Epigenome and transcriptome profiling of mouse HCC and ICC singled out Tbx3 (601621) and Prdm5 (614161) as major microenvironment-dependent and epigenetically regulated lineage-commitment factors, a function that is conserved in humans. Seehawer et al. (2018) concluded that their results provided insight into lineage commitment in liver tumorigenesis, and explained molecularly why common liver-damaging risk factors can lead to either HCC or ICC.
Molecular Genetics
### Somatic Mutations
Jiao et al. (2013) performed exome sequencing of 32 intrahepatic cholangiocarcinomas and discovered frequent inactivating mutations in multiple chromatin-remodeling genes, including BAP1 (603089), ARID1A (603024), and PBRM1 (606083). Mutation in one of these genes occurred in almost half of the carcinomas sequenced. Jiao et al. (2013) also identified frequent mutations at reported hotspots in the IDH1 (147700) and IDH2 (147650) genes, encoding metabolic enzymes in intrahepatic cholangiocarcinomas. In contrast, TP53 (191170) was the most frequently altered gene in a series of 9 gallbladder carcinomas.
Chan-on et al. (2013) profiled 209 cholangiocarcinomas (CCAs) from Asia and Europe, including 108 cases caused by infection with the liver fluke Opisthorchis viverrini and 101 cases caused by non-O. viverrini-related etiologies. Whole-exome sequencing in 15 tumors and prevalence screening in 194 tumors identified recurrent somatic mutations in BAP1 and ARID1A. Comparisons between intrahepatic O. viverrini-related and non-O. viverrini-related cholangiocarcinomas demonstrated statistically significant differences in mutation patterns: BAP1, IDH1, and IDH2 were more frequently mutated in non-O. viverrini cholangiocarcinomas, whereas TP53 mutations showed the reciprocal pattern. Functional studies demonstrated tumor suppressive functions for BAP1 and ARID1A, establishing the role of chromatin modulators in cholangiocarcinoma pathogenesis. Chan-on et al. (2013) concluded that these findings indicated that different etiologies may induce distinct somatic alterations, even within the same tumor type.
*[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
|
CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO
|
c0206698
| 28,362 |
omim
|
https://www.omim.org/entry/615619
| 2019-09-22T15:51:24 |
{"mesh": ["D018281"], "omim": ["615619"], "orphanet": ["70567"], "synonyms": ["Alternative titles", "CHLC, SUSCEPTIBILITY TO"]}
|
Developmental regression is when a child loses an acquired function or fails to progress beyond a prolonged plateau after a period of relatively normal development.[clarification needed][1] Developmental regression could be due to metabolic disorders,[2] progressive hydrocephalus, worsening of seizures, increased spasticity, worsening of movement disorders or parental misconception of acquired milestones. The timing of onset of developmental regression can be established by repeated medical evaluations, prior photographs and home movies. Whether the neurologic decline is predominantly affecting the gray matter or the white matter of the brain needs to be ascertained. Seizures or EEG changes, movement disorders, blindness with retinal changes, personality changes and dementia are features suggestive of grey matter involvement.[1]
## See also[edit]
* Developmental delay
* Developmental disorder
## References[edit]
1. ^ a b Bradley, Walter. Neurology in clinical practice. Expert Consult. Archived from the original on 2013-12-16. Retrieved 2013-12-08.
2. ^ Sreekantam, Srividya; Wassmer, Evangeline (2013). "An approach to developmental regression". Paediatrics and Child Health. 23 (6): 273–277. doi:10.1016/j.paed.2012.12.004.
*[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
|
Developmental regression
|
c1855019
| 28,363 |
wikipedia
|
https://en.wikipedia.org/wiki/Developmental_regression
| 2021-01-18T19:05:50 |
{"umls": ["C1855019"], "wikidata": ["Q17009018"]}
|
Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
*[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-cataract-hip spine disease syndrome
|
c2931548
| 28,364 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1345
| 2021-01-23T18:49:51 |
{"gard": ["1102"], "mesh": ["C537616"], "umls": ["C2931548"], "synonyms": ["Krasnow-Qazi syndrome"]}
|
A number sign (#) is used with this entry because of evidence that structural heart defects and renal anomalies syndrome (SHDRA) is caused by homozygous mutation in the TMEM260 gene (617449) on chromosome 14q22.
Clinical Features
Ta-Shma et al. (2017) studied 3 affected sibs from a consanguineous Ashkenazi Jewish family, 2 of whom died in the first few months of life, as well as a similarly affected girl born of double-first-cousin Arab parents, who died suddenly at 1 year of age. All 4 children exhibited complex congenital heart defects, including atrial and ventricular septal defects (ASDs and VSDs), tricuspid valve atresia, truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, right aortic arch, persistent left superior vena cava, and partial anomalous pulmonary venous return. In addition, all had elevated creatinine levels, 3 showed generalized edema, and 2 of the Ashkenazi Jewish sibs developed renal failure with oliguria and anuria, before succumbing to multiorgan failure and cardiac and pulmonary failure, respectively. Neurologic defects included partial agenesis of the corpus callosum in the deceased brother and sister, and microcephaly in the Arab girl. The surviving 2-year-old Ashkenazi Jewish boy had 3 muscular VSDs that closed spontaneously, a small ASD, and multiple small left renal cysts. The Arab girl had an older sister who died at 35 days of life as a result of congenital heart disease.
Inheritance
The transmission pattern of structural heart defects and renal anomalies syndrome in the families reported by Ta-Shma et al. (2017) was consistent with autosomal recessive inheritance.
Molecular Genetics
By whole-exome sequencing in 2 unrelated families with structural heart defects and renal anomalies syndrome, Ta-Shma et al. (2017) identified homozygosity for 2 different mutations in the TMEM260 gene (617449.0001 and 617449.0002) that segregated with disease.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (in 1 patient) CARDIOVASCULAR Heart \- Ventricular septal defect \- Atrial septal defect \- Tricuspid valve atresia \- Truncus arteriosus \- Tetralogy of Fallot Vascular \- Interrupted aortic arch \- Right aortic arch \- Persistent left superior vena cava \- Partial anomalous pulmonary venous return GENITOURINARY Kidneys \- Renal failure \- Renal cysts MUSCLE, SOFT TISSUES \- Generalized edema NEUROLOGIC Central Nervous System \- Partial agenesis of corpus callosum (in some patients) MISCELLANEOUS \- Phenotypic variability, intrafamilial \- Patients may die of renal and/or multiorgan failure within the first year of life MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 260 gene (TMEM260, 617449.0001 ) ▲ 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
|
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
|
c4479549
| 28,365 |
omim
|
https://www.omim.org/entry/617478
| 2019-09-22T15:45:46 |
{"omim": ["617478"]}
|
Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant 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
|
Book syndrome
|
c0457014
| 28,366 |
gard
|
https://rarediseases.info.nih.gov/diseases/932/book-syndrome
| 2021-01-18T18:01:45 |
{"mesh": ["C562993"], "omim": ["112300"], "umls": ["C0457014"], "orphanet": ["1262"], "synonyms": ["Premolar aplasia, hyperhidrosis, and canities prematura", "PHC syndrome"]}
|
This article needs editing for compliance with Wikipedia's Manual of Style. In particular, it has problems with not using MEDMOS. Please help improve it if you can. (June 2018) (Learn how and when to remove this template message)
Giant cell carcinoma of the lung
Pulmonary giant cell carcinoma represents a rare variety of non-small cell lung carcinoma that is characterized by the presence of numerous tumor giant cells and an influx of inflammatory cells that are mostly polymorphonuclear leukocytes admixed with macrophages. The dense oval aggregates of polymorphonuclear leukocytes seen in this image are probably located in the cytoplasm of tumor giant cells (emperiopolesis) that have been sectioned in a plane that does not include their nuclei.
SpecialtyOncology
Giant-cell carcinoma of the lung (GCCL) is a rare histological form of large-cell lung carcinoma, a subtype of undifferentiated lung cancer, traditionally classified within the non-small-cell lung carcinomas (NSCLC).
The characteristic feature of this highly lethal malignancy is the distinctive light microscopic appearance of its extremely large cells, which are bizarre and highly pleomorphic, and which often contain more than one huge, misshapen, pleomorphic nucleus ("syncytia"), which result from cell fusion.
Although it is common in the lung cancer literature to refer to histologically mixed tumors containing significant numbers of malignant giant cells as "giant-cell carcinomas", technically a diagnosis of "giant-cell carcinoma" should be limited strictly to neoplasms containing only malignant giant cells (i.e. "pure" giant-cell carcinoma).[1]
Aside from the great heterogeneity seen in lung cancers (especially those occurring among tobacco smokers), the considerable variability in diagnostic and sampling techniques used in medical practice, the high relative proportion of individuals with suspected GCCL who do not undergo complete surgical resection, and the near-universal lack of complete sectioning and pathological examination of resected tumor specimens prevent high levels of quantitative accuracy.
## Contents
* 1 Classification
* 2 Cytology
* 3 Tissue architectural features
* 4 Macroscopic features
* 5 Staining and immunohistochemistry
* 6 Differential diagnosis
* 7 Sites of metastasis
* 8 Pathogenesis
* 9 Combined/multiphasic tumors containing giant cells
* 10 Imaging characteristics
* 11 Positron emission tomography scanning
* 12 Metabolic pathways
* 13 Paraneoplastic syndromes
* 14 Treatment
* 15 Prognosis
* 16 Epidemiology
* 17 History
* 18 References
* 19 External links
## Classification[edit]
For several decades, primary lung cancers were consistently dichotomously classified for treatment and research purposes into small-cell lung carcinomas (SCLCs) and non-small-cell lung carcinomas (NSCLCs), based on an oversimplified approach that is now clearly outmoded. The new paradigm recognizes that lung cancers are a large and extremely heterogeneous family of malignant neoplasms,[2] with over 50 different histological variants included in the 4th (2004) revision of the World Health Organization typing system, the most widely used lung cancer classification scheme ("WHO-2004").[1] These variants are increasingly appreciated as having different genetic, biological, and clinical properties, including prognoses and responses to treatment regimens, and therefore, that correct and consistent histological classification of lung cancers are necessary to validate and implement optimum management strategies.[3][4]
About 1% of lung cancers are sarcomas, germ cell tumors, and hematopoietic tumors, while 99% of lung cancers are carcinoma. Carcinomas are tumors composed of transformed, abnormal cells with epithelial tissue architecture and/or molecular characteristics, and which derive from embryonic endoderm.[5] Eight major taxa of lung carcinomas are recognized within the WHO-2004 classification:[1]
1. Small-cell carcinoma
2. Squamous cell carcinoma
3. Adenocarcinoma
4. Large-cell carcinoma
5. Adenosquamous carcinoma
6. Sarcomatoid carcinoma
7. Carcinoid
8. Salivary gland-like carcinoma
The subclassification of GCCL among these major taxa has undergone significant changes in recent decades. Under the 2nd revision (1981) of the WHO classification, it was considered a subtype of large-cell carcinoma.[6] In the 3rd (1999) revision,[7] it was placed within a taxon called "Carcinomas with Pleomorphic, Sarcomatoid, or Sarcomatous Elements", along with pleomorphic carcinoma, spindle cell carcinoma, carcinosarcoma, and pulmonary blastoma, which are (arguably) related variants. While the 4th revision ("WHO-2004") retained the same grouping of lesions as the 3rd revision, the name of the major taxon was shortened to "sarcomatoid carcinomas".[1]
The current rules for classifying lung cancers under WHO-2004, while useful and improved, remain to some extent fairly complex, ambiguous, arbitrary, and incomplete.[1] Although it is fairly common for mixed tumors that are seen to contain malignant giant cells to be called "giant-cell carcinomas", accurate classification of a pulmonary tumor as a GCCL requires that the entire tumor consists only of malignant giant cells. Therefore, complete sampling of the entire tumor — obtained via a surgical resection — is absolutely necessary for a definitive diagnosis of GCCL to be made.[1]
## Cytology[edit]
The background contained numerous lymphocytes and neutrophils. The shape of the tumor cell was spindle or pleomorphic, and the sizes of the tumor cells varied by more than 5-fold. The tumor cells had an abundant, thick and well-demarcated cytoplasm. The location of the nucleus was centrifugal, and the nucleus was oval or irregularly shaped. Multinucleated giant cells were frequently observed. The size of the nucleus was more than 5 times that of normal lymphocytes, and its size also varied by more than 5-fold. The nuclear membrane was thin, and nuclear chromatin was coarsely granular, while the nucleolus was single and round.
In cytological preparations, giant cells typically appear as single cells or in flat loose clusters, and occasionally in fascicles.[8]
GCCL are considered a member of the most common type of lung cancer, called "non-small-cell carcinomas". This group of lethal neoplasms make up approximately 85% of all lung cancers.[1] By the definition of "large-vs.-small-cell carcinoma", the diameter of GCCL cells must be considerably greater than three times that of a resting (i.e. unstimulated) lymphocyte. Also by definition, GCCL do not contain any amount of these small, neurosecretory granule-containing, neuroendocrine cells that are characteristic of small-cell carcinomas — when they do, the tumor should be classified as a combined small-cell carcinoma.[1]
Compared to most other lung cancer variants, cells comprising GCCL tend to be much larger (up to 150 micrometers diameter, or even larger),[9] Both cells and nuclei show extreme variation in size distribution and shape. Carcinomatous giant cells carcinoma nuclei have been reported to average 5 times the size of lymphocyte nuclei.[8]
The cells from giant-cell carcinomas are anaplastic, and show no evidence of cell maturation or differentiation, lacking the cytological and tissue architectural characteristics of squamous cell carcinoma, adenocarcinoma, neuroendocrine carcinomas, or other more differentiated lung cancer cell types. They tend to be highly pleomorphic (i.e. variable in characteristics), but are most often round and/or polygonal in shape, with a relatively low nuclear-to-cytoplasmic ratio. When associated with spindle cells, as they very frequently are in tumors with mixed histology, malignant giant cells tend to form loosely cohesive aggregate structures on cytological examination. However, when a biopsy sample consists purely of malignant giant cells, the cells tend to be single and disaggregated.[1]
Case series suggest that the relative number of giant cells in a given tumor are generally directly proportional to the size of the tumor, and to the relative amount of necrosis.[10]
Giant cells in a lung cancer are highly associated with the presence of spindle cells.[11]
The chromatin of malignant giant cells tends to be hyperchromatic and coarsely clumped. Nucleoli are usually multiple and prominent.[9]
Subcellular characteristics often noted in the malignant giant cells of GCCL cases include abundant mitochondria, concentric whorls of tonofilament-like fibrils, and aggregates of several pairs of centrioles.[12]
Both "tumor cell-tumor cell" and "leukocyte-tumor cell" emperipolesis (i.e. active penetration of the latter by the former) is very commonly seen in cases of GCCL.[12]
## Tissue architectural features[edit]
In mixed tumors, giant cells are more likely to be found in higher proportions at the edge of a tumor.[11] When extensive necrosis is present, it is possible for a giant-cell tumor to have only a thin rim of viable cells remaining at the perimeter of the mass.[citation needed]
In one early case series, abundant production of loose malignant giant cells were noted to fill the alveoli of victims without destroying, infiltrating, or disturbing the normal underlying architecture, a pathologic behavior that bears some resemblance to the pneumonic variant of bronchioloalveolar carcinoma.[13]
Extensive tumor necrosis and hemorrhage is extremely common in GCCL.[13]
Although the issue has not been extensively studied in a controlled fashion, GCCLs have been noted to contain significantly elevated levels of VEGF.[14] However, in one study where a giant-cell carcinoma tumor that had been completely excised was sectioned and examined, no qualitative or quantitative abnormalities in tissue vascularization were noted.[9]
GCCL have been noted to be encapsulated, and to be divided via septa into "pseudolobules", by a highly fibrous stroma, suggested to be produced commensurately with tumor growth. The capsule is typically infiltrated with malignant giant cells.[15]
## Macroscopic features[edit]
Giant-cell carcinomas of the lung frequently show extensive necrosis[15] and myxoid degeneration.[11]
A trend toward less vascularity and tissue density (with lower contrast enhancement on CT) has been noted toward the center of these lesions, especially in larger tumors, and even in tumors without a significant volume of gross necrosis.[16]
Grossly, the cut surfaces of these malignancies are often gray-white or tan, and frequently show myxoid, necrotic, and/or hemorrhagic foci.[16] These sorts of areas often show low levels of contrast enhancement on CT scanning.[citation needed]
Low encapsularity and high levels of tissue collagen tend to be observed, with high contrast enhancement in these areas.[16]
GCCL have been seen to develop from/in emphysematous bullae.[17]
## Staining and immunohistochemistry[edit]
A case of a brain metastasis from a giant-cell lung carcinoma (both "pure") tested positive for cytokeratins AE1/AE3, and negative for CK-7, CK-20, TTF-1, and GFAP.[18]
GCCL cells often stain intensely by Periodic acid-Schiff reagent, suggesting the presence of significant amounts of glycogen in the cell cytoplasm.[15]
## Differential diagnosis[edit]
Under light microscopy, the giant malignant pleomorphic cells making up a GCCL resemble those found in choriocarcinoma,[1] angiosarcoma,[19] and some forms of true sarcoma,[1] such as malignant fibrous histiocytoma[1] and rhabdomyosarcoma.[9] In some instances, they can also bear considerable resemblance to "activated" histiocytes seen in some inflammatory conditions.[9]
A rare and potentially difficult differential diagnostic dilemma occurs when GCCLs must be separated from pulmonary or mediastinal choriocarcinomas, a critical distinction to me made because while there is a known standard of care for treating choriocarcinoma, as yet there is no generally accepted specific standard treatment for GCCL. Careful review of cell morphology is key to their delineation — while GCCLs show great variation in cell size distributions and morphologies in tumors, choriocarcinomas consistently contain only syncytiotrophoblasts and cytotrophoblasts.[20] GCCL and primary pulmonary choriocarcinoma can also be differentiated on the basis of ultrastructural features by electron microscopy, although EM is not yet widely applicable.[21]
Occasionally, a bone metastasis of a GCCL could potentially be mistaken for a primary giant-cell tumor of bone[22] — the latter entity can behave as a neoplasm of benign, frankly malignant,[23] or borderline[24] in its clinical behavior.[25]
## Sites of metastasis[edit]
GCCLs are particularly notable among lung cancers for their extremely unusual tendency to metastasize to the small intestine, occasionally causing obstruction, severe bleeding, and/or intussusception. This clinical characteristic of GCCL has been seen in cases spanning over half a century in time.[26][27]
Within the small bowel, the jejunum seems to be a preferred site for metastasis of GCCL.
GCCL also often metastasizes to bone,[22] adrenal, brain,[18] lung, liver, kidney,
Brain metastases from GCCL are particularly likely to cause significant cerebral hemorrhages as compared to other lung cancer variants, probably due to greatly increased rates of endothelial proliferation and neovascularization, tumor tissue growth, extensive necrosis, and aggressive local infiltrative character of GCCL cells.[18]
## Pathogenesis[edit]
Several studies, both in giant-cell tumor specimens and in cell lines, have identified rearrangement and amplification of the c-myc oncogene, sometimes in combination with mutations of the K-ras gene.[28][29]
Overexpression of vascular endothelial growth factor (VEGF) has been shown to occur in GCCL and is thought to be related to the high metastatic potential of this lung cancer variant.[14]
Malignant giant cells identical to those found in GCCL commonly occur in lung cancer cases with a prominent major or minor clear-cell carcinoma pattern (for a discussion about this variant, see for example[30]). They have been hypothesized to derive from an undifferentiated multipotent malignant stem cell precursor that is generated in distal bronchioles via an as yet unknown oncogenetic pathway or oncogenetic driver.[12]
Ultrastructurally, malignant giant cells often contain accumulations of microfilaments arranged in whorls near the cell nucleus. These entities appear similar in structure to microfilaments and bundles found in the D1 cell of the gastro-entero-pancreatic endocrine system, and it has been proposed that these D1 cells may be the cancer stem cell for at least some GCCLs. Identically appearing whorled filament structures have also been produced in certain airway cells of animals after treatment with carcinogenic nitrosamines.[31]
Ultrastructural studies have suggested that the malignant giant cells in GCCL are of endodermal lineage.[32]
Remarkably fast growing tumors.[18]
## Combined/multiphasic tumors containing giant cells[edit]
Malignant giant cells are commonly found — and vary in relative proportion to a greater or lesser degree — in both primary tumors and metastatases of many different variants of lung carcinomas. A number of authors have noted that bizarre malignant giant cells occur more commonly in primary and secondary tumors — including any remaining tumor "deposits" — that have previously been treated with chemotherapy and/or radiation therapy in adjuvant or neoadjuvant protocols.[32]
## Imaging characteristics[edit]
GCCL often presents as a large peripheral mass that is severely cavitated.[33]
In a radiographic study of almost 2,000 lung cancer patients published 50 years ago, 3.4% of lung carcinomas proved to be cavitated masses,[34] most of which were squamous cell carcinoma.
In a number of cases of severe cavitation, the resected tumor remnant consists of only a thin rim of proliferating cells.[citation needed]
## Positron emission tomography scanning[edit]
On positron emission tomography (PET) scanning, GCCL has been found to have exceedingly high standardized uptake values (SUV) for radioactive glucose, values that are statistically significantly higher than in other histological variants of lung cancer.[35]
## Metabolic pathways[edit]
PET scanning suggests that GCCL are tumors with particularly rapid metabolism, and that the metabolic pathways of GCCL may be unusually dependent on, or interlinked to, glycolysis.[35]
## Paraneoplastic syndromes[edit]
GCCL have been long known[36] for secretion of the beta subunit of human chorionic gonadotropin (beta-HCG), often in large amounts, which can lead to very high levels of estrogen and painful gynecomastia (breast enlargement) in males as paraneoplastic signs.[37]
Giant-cell lung cancers are well known for their paraneoplastic production and secretion of granulopoietic colony stimulating factor (G-CSF)[29][38]
GCCL has also been reported to produce plasminogen activator as a paraneoplastic phenomenon.[9]
## Treatment[edit]
Because of its rarity, there have been no randomized clinical trials of treatment of GCCL, and all information available derives from small retrospective institutional series or multicenter metadata.[39]
## Prognosis[edit]
Giant-cell lung cancers have long been considered to be exceptionally aggressive malignancies[40][15][41] that grow very rapidly[29] and have a very poor prognosis.[42]
Many small series have suggested that the prognosis of lung tumors with giant cells is worse than that of most other forms of non-small-cell lung cancer (NSCLC),[11] including squamous cell carcinoma,[42] and spindle cell carcinoma.[42]
The overall five-year survival rate in GCCL varies between studies but is generally considered to be very low. The (US) Armed Forces Institute of Pathology has reported a figure of 10%,[43] and in a study examining over 150,000 lung cancer cases, a figure of 11.8% was given.[5] However, in the latter report the 11.8% figure was based on data that included spindle cell carcinoma, a variant which is generally considered to have a less dismal prognosis than GCCL.[11] Therefore, the likely survival of "pure" GCCL is probably lower than the stated figure.
In the large 1995 database review by Travis and colleagues, giant-cell carcinoma has the third-worst prognosis among 18 histological forms of lung cancer. (Only small-cell carcinoma and large-cell carcinoma had shorter average survival.)[5]
Most GCCL have already grown and invaded locally and/or regionally, and/or have already metastasized distantly, and are inoperable, at the time of diagnosis.[15]
## Epidemiology[edit]
The true incidence, prevalence, and mortality of GCCL is generally unknown due to a lack of accurate cancer data on a national level. It is known to be a very rare tumor variant in all populations examined, however. In an American study of a database of over 60,000 lung cancers, GCCL comprised between 0.3% and 0.4% of primary pulmonary malignancies, with an age-adjusted incidence rate of about 3 new cases per million persons per year.[5] With approximately 220,000 total lung cancers diagnosed in the US each year,[44] the proportion suggests that approximately 660 and 880 new cases are diagnosed in Americans annually.[5][45]
However, in a more recent series of 4,212 consecutive lung cancer cases, only one (0.024%) lesion was determined to be a "pure" giant-cell carcinoma after complete sectioning of all available tumor tissue.[35] While some evidence suggests GCCL may have been considerably more common several decades ago, with one series identifying 3.4% of all lung carcinomas as giant-cell malignancies,[46] it is possible that this number reflect
Most published case series and reports on giant cell-containing lung cancers show that they are diagnosed much more frequently in men than they are in women,[16][42] with some studies showing extremely high male-to-female ratios (12:1 or more). In a study of over 150,000 lung cancer victims in the US, however, the gender ratio was just over 2:1, with women actually having a higher relative proportion of giant-cell cancers (0.4%) than men (0.3%).[5]
Giant-cell carcinomas have been reported to be diagnosed in a significantly younger population than all non-small-cell carcinomas considered as a group.[16][40] Like nearly all lung carcinomas, however, GCCs are exceedingly rare in very young people: in the US SEER program, only 2 cases were recorded to occur in persons younger than 30 years of age between 1983 and 1987.[5] The average age at diagnosis of these tumors has been estimated at 60 years.[16]
The vast majority of individuals with GCCL are heavy smokers.[16]
Although the definitions of "central" and "peripheral" can vary[16] between studies, GCCL are consistently diagnosed much more frequently in the lung periphery.[16] In a review of literature compiled by Kallenburg and co-workers, less than 30% of GCCLs arose in the hilum or other parts of the "central" pulmonary tree.[40]
A significant predilection for genesis of GCCL in the upper lobes of victims has also been postulated.[16]
## History[edit]
Most sources credit Nash and Stout with publishing the first detailed report in the medical literature recognizing GCCL as a distinct clinicopathological entity in 1958.[47] However, there is some evidence that suggests this tumor phenotype was described as early as 1951.[13] In a report on 3 cases of giant-cell lung carcinoma published in 1961 by Z.M. Naib, the author cites 2 previous studies related to GCCL — one published in 1951 by M.M. Patton and co-workers,[48] and one published in 1955 by Walton and Pryce.[49] In 1969, Dr. Alexander Kennedy, in a case series of 3 GCCL Kennedy published in 1969,[15] credited Hadley and Bullock with the first usage of the term "giant-cell carcinoma" 16 years prior.[50]
GCCL was first confirmed as an epithelial tumor (and not a dedifferentiated pleomorphic sarcoma) in 1961.[51] In 1964–65, theories were postulated that GCCLs were dediffentiated adenocarcinomas[52] and, in some cases, were thought to derive from clear-cell adenocarcinomas.[30]
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## External links[edit]
Classification
D
* ICD-10: C33-C34
* ICD-9-CM: 162
* ICD-O: M8031/3
* MeSH: D018286
* "Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart". World Health Organization Classification of Tumours. (Download Page).
* "Lung cancer page". National Cancer Institute.
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*[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
|
Giant-cell carcinoma of the lung
|
c0345960
| 28,367 |
wikipedia
|
https://en.wikipedia.org/wiki/Giant-cell_carcinoma_of_the_lung
| 2021-01-18T19:04:47 |
{"mesh": ["D018286"], "umls": ["C0345960", "C0206703"], "icd-9": ["162"], "icd-10": ["C33", "C34"], "wikidata": ["Q5558337"]}
|
A number sign (#) is used with this entry because of evidence that unilateral or bilateral isolated cryptophthalmos (CRYPTOP) is caused by homozygous or compound heterozygous mutation in the FREM2 gene (608945) on chromosome 13q13.
Mutation in the FREM2 gene can also cause a syndromic form of cryptophthalmos, Fraser syndrome-2 (FRASRS2; 617666).
Description
Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005).
Clinical Features
Thomas et al. (1986) reviewed syndromic and isolated cryptophthalmos. The principal syndromic form is Fraser syndrome (219000), a recessive. They found reports of 27 cases of nonsyndromic cryptophthalmos.
Traboulsi et al. (1990) and Saal et al. (1992) described mother and daughter with identical abnormalities limited to the eye. They had bilateral fusion of the upper and lower lids with a midline dimple where the cornea adhered to the upper lid. Small globes were palpable and the proband daughter, an infant, reacted to bright light. Ultrasonography and CT scan of the orbits showed microphthalmia and a lens that was adherent to the cornea. Bilateral enucleation for glaucoma had been necessary in the mother. The dominant inheritance distinguished the condition from the Fraser syndrome. Saal et al. (1992) concluded that the same condition was present in the patients reported by Coover (1910, 1910, 1915) and Magruder (1921).
Egier et al. (2005) described a female child with complete bilateral isolated cryptophthalmos and associated ocular anomalies similar to those described in the patients reported by Coover (1915) and Saal et al. (1992). The child had fusion of the eyelids to the globes with a characteristic central dimpling of the skin overlying the eyes. Ultrasound biomicroscopy showed a posterior corneal surface and abnormal iris, ciliary body, and anterior chamber, consistent with Peters anomaly. The parents were unaffected and nonconsanguineous.
Yu et al. (2018) reported a 3-year-old Chinese girl (family 1) with isolated unilateral cryptophthalmos, whose right eye was completely covered by intact skin without eyelid, eyelashes, or eyebrows, whereas the left eye was normal. MRI and ocular CT scan showed a unilateral gourd-shaped cyst with markedly enlarged cornea and anterior chamber depth, but no clear internal structures. Exploratory surgery at age 4 revealed a gourd-shaped cyst, but no iris tissue, anatomic eyelid structure, or conjunctival sac structure. The patient had no other anomalies.
Zhang et al. (2019) studied 3 unrelated Chinese children with bilateral complete cryptophthalmos. Gross examination of the periorbital area showed continuous intact skin covering the upper half of the face, without the normal development of eyelids, eyelashes, or eyebrows. Ocular B-scan ultrasound revealed bilateral gourd-shaped cysts without clear internal structures, and MRI showed normal brain morphology, extraocular muscles in a narrow orbital fat gap, and optic nerve enlargement in the expanded orbits. Upon exploratory surgery at age 4 months (patient 1), no anatomic eyelid structure was identified. A transparent anterior cyst was detected beneath the subcutaneous tissue, and a lens-like transparent spherical body was observed in the posterior cyst. However, the iris and suspensory ligament of the lens were absent, and vascular and pigment tissues in the posterior cyst were not obviously identifiable as retinal or choroid tissues. There were no other anomalies on examination or ultrasonography of the heart, brain, and urogenital system, and all 3 patients achieved normal developmental milestones with no cognitive impairment.
Inheritance
Of 27 cases of nonsyndromic cryptophthalmos found in a literature review by Thomas et al. (1986), 16 were sporadic and 11 were familial. Thomas et al. (1986) stated that the familial cases were distributed in 3 families, all with vertical transmission and thus consistent with dominant inheritance (Coover (1910, 1915); Goldberg, 1912; Magruder, 1921). Goldberg (1912) reported 5 cases in 4 generations of a family; it is possible that the entity should be labeled ankyloblepharon (presumably different from filiform ankyloblepharon, 106250). Magruder (1921) reported affected mother and daughter. Egier et al. (2005) stated that Magruder (1921) reported the same mother and daughter as Coover (1915) after the birth of a son with the same anomaly.
Kulkarni et al. (1995) reported 2 brothers with nonsyndromic complete cryptophthalmos, unilateral in 1 and bilateral in the other. Their unaffected parents were consanguineous, suggesting autosomal recessive inheritance.
Egier et al. (2005) stated that their patient with bilateral complete isolated cryptophthalmos and associated ocular anomalies and the patients in the families of Coover (1915) and Saal et al. (1992) had the same autosomal dominant condition.
Molecular Genetics
In a 3-year-old Chinese girl (patient 1) with isolated unilateral cryptophthalmos and her unaffected parents, Yu et al. (2018) performed trio whole-exome sequencing and identified homozygosity for a missense mutation in the FREM2 gene (R2167W; 608945.0004) that segregated with disease and was not found in an in-house database of 8,000 Chinese control exomes.
By whole-exome sequencing in 3 unrelated Chinese children with isolated bilateral complete cryptophthalmos, Zhang et al. (2019) identified mutations in the FREM2 gene: all 3 had the previously reported R2167W mutation, in compound heterozygosity with 3 different nonsense mutations: R736X (608945.0006), W1770X (608945.0007), and R1355X (608945.0008), respectively. Their unaffected parents were each heterozygous for 1 of the variants. No mutations were detected in other ocular morphogenesis- or Fraser syndrome-associated genes.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Continuous intact skin covering upper half of face Eyes \- No eyebrows \- No eyelashes \- No eyelids \- No anatomic eyelid structure seen at surgery \- Gourd-shaped cyst in ocular cavity \- No clear internal structures \- Extraocular muscles in narrow orbital fat gap \- Optic nerve enlargement in expanded orbit MISCELLANEOUS \- Cryptophthalmos may be unilateral or bilateral \- Normal brain morphology MOLECULAR BASIS \- Caused by mutation in the FRAS1-related extracellular matrix protein-2 gene (FREM2, 608945.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED
|
c0311249
| 28,368 |
omim
|
https://www.omim.org/entry/123570
| 2019-09-22T16:42:47 |
{"omim": ["123570"], "orphanet": ["98949", "91396"], "synonyms": ["CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY", "Alternative titles", "ANKYLOBLEPHARON, SIMPLE"]}
|
A number sign (#) is used with this entry because of evidence that holoprosencephaly-7 (HPE7) is caused by heterozygous mutation in the PTCH1 gene (601309) on chromosome 9q22.
For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100).
Description
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
Clinical Features
Ming et al. (2002) described 5 probands from 5 families affected with HPE7. One female proband had semilobar HPE, absence of the corpus callosum, and fusion of the thalami. Her brother had a single central maxillary incisor, bilateral cleft lip/palate, and developmental delay. In a second pedigree, a female proband had HPE and partial agenesis of the corpus callosum, panhypopituitarism, midline cleft lip and palate, a small omphalocele, and mild to moderate developmental delay. In the report by Ming et al. (2002), 3 families studied had an asymptomatic parent with normal cognitive function who carried the same mutation as the offspring with holoprosencephaly. Ming et al. (2002) quoted Cohen (1989), who estimated that approximately one-third of obligate carriers of autosomal dominant forms of HPE are asymptomatic with normal cognitive function.
In a 5-year-old Brazilian girl with holoprosencephaly-like phenotype, Rahimov et al. (2006) identified double heterozygosity for a T728M mutation in the PTCH1 gene (601309.0012) and an R151G mutation in the GLI2 gene (165230.0003). Clinical features included large ears, hypoplastic anterior nasal spine, diminished frontonasal angle, hypotelorism, hypoplastic premaxilla, hypoplastic nose with flattened alae and nasal tip, poorly developed philtrum, bilateral cleft lip/palate, malocclusion, and normal neuropsychologic development. MRI demonstrated mild gyral asymmetry in the perisylvian areas.
Ribeiro et al. (2006) described 5 Brazilian probands, 4 with holoprosencephaly and 1 with holoprosencephaly-like facial features with normal MRI. In 2 probands with the same PTCH1 mutation (601309.0015), the phenotypic presentation was different: alobar HPE, absent nasal septum, and midline cleft lip-palate in 1 patient, and lobar HPE, macrocephaly, hypertelorism, clefting of the nose, severe microphthalmia, and a single maxillary central incisor in the other.
Derwinska et al. (2009) reported a mother and son with microcephaly and mild developmental delay and a 364-kb duplication encompassing the entire PTCH1 gene on chromosome 9q22.32. The 21-month-old boy had mild dysmorphic features, including flat occiput, broad facies with frontal and biparietal bossing, arched eyebrows, inner epicanthal folds, short, prominent and upturned nose, broad nasal root, long flat philtrum, and thin upper lip. He also had brachydactyly and loose joints. The mother had a broad forehead, protruding ears, prominent nose, arched eyebrows, malar flatness, and a high palate. The mother had 7 previous miscarriages. Derwinska et al. (2009) postulated that a gain of function of PTCH1 may be involved in a holoprosencephaly-like phenotype, which includes microcephaly.
Molecular Genetics
Ming et al. (2002) hypothesized that mutations in genes encoding other components of the SHH (600725) signaling pathway could also be associated with HPE. PTCH1, the receptor for SHH, normally acts to repress SHH signaling. This repression is relieved when SHH binds to PTCH1. Ming et al. (2002) identified 4 different mutations in PTCH1 (601309.0011-601309.0014) in 5 unrelated affected individuals. They predicted that by enhancing the repressive activity of PTCH on the SHH pathway, these mutations caused decreased SHH signaling, with resulting HPE. The mutations could affect the ability of PTCH to bind SHH or perturb the intracellular interactions of PTCH with other proteins involved in SHH signaling. The findings demonstrated further genetic heterogeneity associated with the HPE phenotype, as well as showing that mutations in different components of a single signaling pathway can result in the same clinical disorder.
Ribeiro et al. (2006) identified 4 different PTCH1 mutations (see, e.g., 601309.0015) in 4 Brazilian probands with HPE7 and 1 proband with a holoprosencephaly-like facial phenotype but normal MRI (601309.0014). One of the patients with holoprosencephaly described by Ribeiro et al. (2006) was considered by Guion-Almeida et al. (2007) to have cerebrooculonasal syndrome (CONS; 605627); see 601309.0015.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Macrocephaly Face \- Midface hypoplasia \- Hypoplastic premaxilla Eyes \- Upslanting palpebral fissures \- Hypotelorism Nose \- Hypoplastic nose (in 1 patient) \- Flattened alae \- Flattened nasal tip Mouth \- Cleft lip \- Cleft palate Teeth \- Single central maxillary incisor ABDOMEN External Features \- Omphalocele (in 1 patient) NEUROLOGIC Central Nervous System \- Holoprosencephaly, semilobar or alobar \- Hydrocephalus \- Agenesis of corpus callosum \- Developmental delay \- Seizures ENDOCRINE FEATURES \- Panhypopituitarism MISCELLANEOUS \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the patched 1 gene (PTCH1, 601309.0011 ) ▲ 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
|
HOLOPROSENCEPHALY 7
|
c0079541
| 28,369 |
omim
|
https://www.omim.org/entry/610828
| 2019-09-22T16:03:59 |
{"doid": ["0110876"], "mesh": ["D016142"], "omim": ["610828"], "orphanet": ["2162"], "genereviews": ["NBK1530"]}
|
Andersen et al. (1988) reported a family in which 6 of 8 sibs had small-intestinal diverticula. Three of them had multiple jejunoileal diverticula, 1 had 2 jejunal diverticula, and 2 had duodenal diverticula. Four of the sibs had diseases of an immunologic nature: rheumatoid arthritis, ulcerative colitis, myxedema following thyroiditis, and nonviral hepatitis. Rheumatoid arthritis was present in 1 of the sibs who had no small-intestinal diverticula. The affected sibs (2 female and 4 male) varied in age from 64 to 80 years at the time of investigation.
McKusick (1988) reported a 44-year-old patient with well-confirmed type IV Ehlers-Danlos syndrome (130050) who had numerous small intestinal diverticula as well as probable bladder diverticula. Arterial fragility, cutaneous fragility, and bruisability were relatively inconspicuous, but there was joint hyperextensibility, stretchable skin, and valvular cardiac disease. The patient had had gastrointestinal bleeding and epistaxis. He also had arthritis and a papillonodular dermatosis related, apparently, to the process going on in the diverticula.
Immunology \- Rheumatoid arthritis \- Ulcerative colitis \- Thyroiditis with myxedema GI \- Small-intestinal diverticula \- Jejunoileal diverticula \- Jejunal diverticula \- Duodenal diverticula Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DIVERTICULOSIS, SMALL-INTESTINAL
|
c1857228
| 28,370 |
omim
|
https://www.omim.org/entry/223320
| 2019-09-22T16:28:39 |
{"mesh": ["C565620"], "omim": ["223320"]}
|
A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).
*[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 pediatric Behçet-like disease
|
c4225218
| 28,371 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=476102
| 2021-01-23T19:05:20 |
{"omim": ["616744"], "synonyms": ["Behçet-like disease due to HA20", "Behçet-like disease due to haploinsufficiency of A20"]}
|
Candidal intertrigo
Intertrigo interdigital
SpecialtyInfectious disease
Candidal intertrigo is an infection of the skin by Candida albicans, more specifically located between intertriginous folds of adjacent skin.[1]:309
## See also[edit]
* Candidiasis
* Intertrigo
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Candidal intertrigo
|
c0014718
| 28,372 |
wikipedia
|
https://en.wikipedia.org/wiki/Candidal_intertrigo
| 2021-01-18T18:46:01 |
{"icd-10": ["B37.2"], "wikidata": ["Q5031732"]}
|
A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.
*[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
|
Dysembryoplastic neuroepithelial tumor
|
c1266177
| 28,373 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251946
| 2021-01-23T17:58:42 |
{"gard": ["10640"], "umls": ["C1266177"], "synonyms": ["DNET"]}
|
## Clinical Features
Ramirez et al. (2004) described 3 sibs, born to nonconsanguineous Mexican parents, who had bilateral frontotemporal pachygyria without polymicrogyria. The 2 sisters and their brother shared the additional features of moderate mental retardation, esotropia, telecanthus or hypertelorism, and normal or slightly decreased neuromuscular tone and deep tendon reflexes. There were 2 unaffected brothers in the family.
Inheritance
Ramirez et al. (2004) suggested that this syndrome is most likely inherited as an autosomal recessive trait.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Esotropia \- Telecanthus \- Hypertelorism NEUROLOGIC Central Nervous System \- Pachygyria, bilateral frontotemporal \- Mental retardation, moderate \- Seizure, febrile (2/3 children) Peripheral Nervous System \- Neuromuscular tone slightly decreased \- Deep tendon reflexes slightly decreased ▲ 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
|
PACHYGYRIA, FRONTOTEMPORAL
|
c1853215
| 28,374 |
omim
|
https://www.omim.org/entry/610279
| 2019-09-22T16:04:45 |
{"mesh": ["C538092"], "omim": ["610279"]}
|
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions in which a person cannot feel (and has never felt) physical pain.[1] The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause. Because feeling physical pain is vital for survival, CIP is an extremely dangerous condition.[1] It is common for people with the condition to die in childhood due to injuries or illnesses going unnoticed.[1][2] Burn injuries are among the more common injuries.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Treatment
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Play media
A patient and doctor discuss congenital insensitivity to pain
For people with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature[3]), and there are generally no detectable physical abnormalities.
Because children and adults with the disorder cannot feel pain, they may not respond to problems, thus being at a higher risk of more severe diseases. Children with this condition often sustain oral cavity damage both in and around the oral cavity (such as having bitten off the tip of their tongue) or fractures to bones.[2] Unnoticed infections and corneal damage due to foreign objects in the eye are also seen.[2][4]
There are generally two types of non-response exhibited:[1][4]
* Insensitivity to pain means that the painful stimulus is not even perceived: a patient cannot describe the intensity or type of pain.
* Indifference to pain means that the patient can perceive the stimulus, but lacks an appropriate response: they do not flinch or withdraw when exposed to pain.
## Causes[edit]
It may be that the condition is caused by increased production of endorphins in the brain.[citation needed] In this case, naloxone may be a treatment, but it does not always work.[5] In all cases, this disorder can be in the voltage-gated sodium channel SCN9A (Nav1.7).[6] Patients with such mutations are congenitally insensitive to pain and lack other neuropathies. There are three mutations in SCN9A: W897X, located in the P-loop of domain 2; I767X, located in the S2 segment of domain 2; and S459X, located in the linker region between domains 1 and 2. This results in a truncated non-functional protein. Nav1.7 channels are expressed at high levels in nociceptive neurons of the dorsal root ganglia. As these channels are likely involved in the formation and propagation of action potentials in such neurons, it is expected that a loss of function mutation in SCN9A leads to abolished nociceptive pain propagation.[7][8]
PRDM12 gene is normally switched on during the development of pain-sensing nerve cells. People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP).[9][10]
Homozygous microdeletion in the FAAH-OUT pseudogene of the fatty acid amide hydrolase chromosomal region that is expressed in the brain and dorsal root ganglia was identified as the cause of congenital analgesia in a single individual (as of 2019). The individual experienced lifelong insensitivity to pain and was oblivious to cuts and burns, did not experience pain during childbirth, did not experience pain from degeneration of a hip that required hip replacement surgery, and did not require analgesics for postoperative pain. Furthermore, the individual exhibited expedited wound healing and reduced scarring, could not sense heat from chili peppers, did not experience depression, fear, and anxiety and lacked a normal fear response to erratic and aggressive behaviour. However, the individual also experienced slight memory impairment (was prone to losing the trail of thought while speaking, and experienced some forgetfulness), and could not experience thrill ("adrenaline rush").[11][12]
Developmental disabilities such as autism can include varying degrees of pain insensitivity as a sign.[13] However, since these disorders are characterized by dysfunction of the sensory system in general, autism is not in itself an indicator of congenital insensitivity to pain.
## Treatment[edit]
The opioid antagonist naloxone allowed a woman with congenital insensitivity to pain to experience it for the first time.[14] Similar effects were observed in Nav1.7 null mice treated with naloxone.[14] As such, opioid antagonists like naloxone and naltrexone may be effective in treating the condition.[14]
## Epidemiology[edit]
Congenital insensitivity to pain is found at an abnormally high frequency in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported.[15]
## See also[edit]
* Hereditary sensory and autonomic neuropathy
* Familial dysautonomia
* Congenital insensitivity to pain with anhidrosis
* Hypoalgesia
* Pain asymbolia
## References[edit]
1. ^ a b c d Linton S (2005). Understanding Pain for Better Clinical Practice: A Psychological Perspective. Elsevier Health Sciences. p. 14. ISBN 978-0444515919. Retrieved April 13, 2017.
2. ^ a b c d Hellier JL (2016). The Five Senses and Beyond: The Encyclopedia of Perception. ABC-CLIO. pp. 118–119. ISBN 978-1440834172. Retrieved April 13, 2017.
3. ^ Online Mendelian Inheritance in Man (OMIM): Insensitivity to Pain, Congenital, with Anhidrosis; CIPA - 256800
4. ^ a b Brodsky MC (2016). Pediatric Neuro-Ophthalmology. Springer. p. 741. ISBN 978-1493933846. Retrieved April 13, 2017.
5. ^ Manfredi M, Bini G, Cruccu G, Accornero N, Berardelli A, Medolago L (August 1981). "Congenital absence of pain". Archives of Neurology. 38 (8): 507–11. doi:10.1001/archneur.1981.00510080069010. PMID 6166287.
6. ^ Bennett DL, Clark AJ, Huang J, Waxman SG, Dib-Hajj SD (April 2019). "The Role of Voltage-Gated Sodium Channels in Pain Signaling". Physiological Reviews. 99 (2): 1079–1151. doi:10.1152/physrev.00052.2017. PMID 30672368.
7. ^ Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, et al. (December 2006). "An SCN9A channelopathy causes congenital inability to experience pain". Nature. 444 (7121): 894–8. Bibcode:2006Natur.444..894C. doi:10.1038/nature05413. PMC 7212082. PMID 17167479.
8. ^ McDermott LA, Weir GA, Themistocleous AC, Segerdahl AR, Blesneac I, Baskozos G, Clark AJ, Millar V, Peck LJ, Ebner D, Tracey I, Serra J, Bennett DL (March 2019). "V1.7 in Human Nociception". Neuron. 101 (5): 905–919.e8. doi:10.1016/j.neuron.2019.01.047. PMC 6424805. PMID 30795902.
9. ^ Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, et al. (July 2015). "Transcriptional regulator PRDM12 is essential for human pain perception". Nature Genetics. 47 (7): 803–8. doi:10.1038/ng.3308. hdl:2262/75983. PMC 7212047. PMID 26005867.
10. ^ Costandi M (2015-05-25). "Uncomfortably numb: The people who feel no pain". the guardian. Retrieved 31 July 2015.
11. ^ Murphy H (2019-03-28). "At 71, She's Never Felt Pain or Anxiety. Now Scientists Know Why". The New York Times. ISSN 0362-4331. Retrieved 2019-03-30.
12. ^ Habib AM, Okorokov AL, Hill MN, Bras JT, Lee MC, Li S, Gossage SJ, van Drimmelen M, Morena M, Houlden H, Ramirez JD, Bennett DL, Srivastava D, Cox JJ (March 2019). "Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrationsand pain insensitivity". British Journal of Anaesthesia. 123 (2): e249–e253. doi:10.1016/j.bja.2019.02.019. PMC 6676009. PMID 30929760.
13. ^ Wolraich M (2008). Developmental-behavioral Pediatrics: Evidence and Practice. Elsevier Health Sciences. p. 399. ISBN 9780323040259.
14. ^ a b c Minett MS, Pereira V, Sikandar S, Matsuyama A, Lolignier S, Kanellopoulos AH, Mancini F, Iannetti GD, Bogdanov YD, Santana-Varela S, Millet Q, Baskozos G, MacAllister R, Cox JJ, Zhao J, Wood JN (December 2015). "Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7". Nature Communications. 6 (1): 8967. Bibcode:2015NatCo...6.8967M. doi:10.1038/ncomms9967. PMC 4686868. PMID 26634308.
15. ^ Minde JK (April 2006). "Norrbottnian congenital insensitivity to pain". Acta Orthopaedica. Supplementum. 77 (321): 2–32. PMID 16768023.
## External links[edit]
* "The Hazards of Growing Up Painlessly" By Justin Heckert, New York Times, November 15, 2012. Profile of Ashlyn Blocker, 13, who has congenital insensitivity to pain.
Classification
D
* OMIM: 243000 147430
* MeSH: D000699
* DiseasesDB: 31214
* v
* t
* e
Pain
By region/system
Head and neck
* Headache
* Neck
* Odynophagia (swallowing)
* Toothache
Respiratory system
* Sore throat
* Pleurodynia
Musculoskeletal
* Arthralgia (joint)
* Bone pain
* Myalgia (muscle)
* Acute
* Delayed-onset
Neurologic
* Neuralgia
* Pain asymbolia
* Pain disorder
* Paroxysmal extreme pain disorder
* Allodynia
* Chronic pain
* Hyperalgesia
* Hypoalgesia
* Hyperpathia
* Phantom pain
* Referred pain
* Congenital insensitivity to pain
* congenital insensitivity to pain with anhidrosis
* congenital insensitivity to pain with partial anhidrosis
Other
* Pelvic pain
* Proctalgia
* Back
* Low back pain
Measurement and testing
* Pain scale
* Cold pressor test
* Dolorimeter
* Grimace scale (animals)
* Hot plate test
* Tail flick test
* Visual analogue scale
Pathophysiology
* Nociception
* Anterolateral system
* Posteromarginal nucleus
* Substance P
Management
* Analgesia
* Anesthesia
* Cordotomy
* Pain eradication
Related concepts
* Pain threshold
* Pain tolerance
* Suffering
* SOCRATES
* Philosophy of pain
* Cancer pain
* Drug-seeking behavior
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[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 insensitivity to pain
|
c0002768
| 28,375 |
wikipedia
|
https://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain
| 2021-01-18T18:55:36 |
{"mesh": ["D000699"], "wikidata": ["Q3045238"]}
|
A number sign (#) is used with this entry because at least some cases of pilomatrixoma are caused by somatic mutation in the beta-catenin gene (CTNNB1; 116806) on chromosome 3p22.
Clinical Features
Pilomatrixoma is the term used by Jones and Campbell (1969) for this tumor. The lesions are firm, circumscribed tumors, usually in the head and neck area, which feel like buttons and are attached to the subcutaneous tissue and overlying skin. Kawamura and Sekimura (1939) observed affected brother and sister. Duperrat and Albert (1948) described 5 affected persons in 2 generations of a family. Geiser (1960) reported affected father and daughter.
Hills and Ive (1992) described a mother and daughter with multiple pilomatrixomas. Neither patient showed any stigmata of myotonic dystrophy (160900), and there were no osteomas on skull x-ray. Colonic polyposis was also excluded.
### Associations with Other Disorders
Cantwell and Reed (1965) reported multiple calcifying epithelioma in association with myotonic dystrophy, and Harper (1971) reported sibs with this combination and has seen at least 6 other confirmed instances of the association.
Masuno et al. (1998) pointed to the occurrence of pilomatrixomas in Rubinstein-Taybi syndrome (180849).
A combination of pilomatricomas and adenomatous polyposis coli (608456) as an autosomal recessive trait has been reported with mutation in the MYH gene (604933) (Baglioni et al., 2005).
Mapping
As mutations in the CTNNB1 gene on 3p22-p21.3 can cause pilomatrixomas, this disorder maps to that location.
Molecular Genetics
In patients with pilomatrixoma, Chan et al. (1999) identified mutations in the beta-catenin gene (e.g., 116806.0002). Moreno-Bueno et al. (2001) analyzed the expression pattern of beta-catenin in normal anagen hair follicles and in 40 human pilomatrixomas by immunohistochemistry. In 11 of these tumors they also studied exon 3 beta-catenin gene mutations by PCR and direct sequencing. As these mutations have been related to a replication error (RER) phenotype in other tumor types, Moreno-Bueno et al. (2001) explored whether or not this association also occurs in pilomatrixomas. Beta-catenin was expressed in the cell membranes of the outer and inner root sheaths and in matrix cells located at the base and periphery of the hair follicle bulb. However, central matrix cells that differentiate into cortical cells, cortical, and cuticular cells expressed beta-catenin in the nucleus, suggesting a role in signal transduction. In addition, some fibroblasts of the dermal papilla also showed nuclear expression of beta-catenin. All 40 analyzed pilomatrixomas showed intense nuclear and cytoplasmic beta-catenin expression in proliferating matrix (basaloid) cells. In areas of maturation, transitional cells mainly showed cytoplasmic and membranous expression of beta-catenin, while only a few cells retained nuclear expression. Shadow or ghost cells did not show beta-catenin expression. Three of 11 tumors (26%) had beta-catenin mutations. All 3 had the same heterozygous missense mutation: a G-to-T change affecting the first nucleotide at codon 32 (116806.0016). None of the 11 tumors studied had a positive RER phenotype. Moreno-Bueno et al. (2001) concluded that the Wnt/beta-catenin/Tcf-Lef pathway is activated in normal matrix cells of the hair follicle to induce differentiation to the hair shaft. Additionally, the beta-catenin mutation in matrix cells of the hair follicle stabilizes beta-catenin protein, which translocates into the nucleus, where it activates gene transcription together with lymphoid enhancer factor-1 (153245)-producing pilomatrixoma. These mutations occur without an underlying defect in DNA mismatch repair.
INHERITANCE \- Somatic mutation SKIN, NAILS, & HAIR Skin \- Pilomatrixoma \- Superficial, firm, circumscribed nodule \- Usually occurs in the head and neck area \- Derived from hair matrix cells \- Histology shows exterior zone of densely packed, small basophilic cells \- Transitional zone of cells with gradual loss of nuclei \- Inner zone of enucleated 'shadow' cells \- Proliferating cells show nuclear expression of lymphoid enhancer binding factor-1 (LEF1, 153245 ) \- Calcification may occur MOLECULAR BASIS \- Caused by somatic mutation in the beta-1 catenin gene (CTNNB1, 116806.0006 ) ▲ 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
|
PILOMATRIXOMA
|
c0206711
| 28,376 |
omim
|
https://www.omim.org/entry/132600
| 2019-09-22T16:41:29 |
{"doid": ["5374"], "mesh": ["D018296"], "omim": ["132600"], "orphanet": ["91414"], "synonyms": ["Alternative titles", "PILOMATRICOMA", "EPITHELIOMA CALCIFICANS OF MALHERBE"]}
|
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 10 (MKS10) and Joubert syndrome-34 (JBTS34) are caused by homozygous or compound heterozygous mutation in the B9D2 gene (611951) on chromosome 19q13.
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Clinical Features
Dowdle et al. (2011) reported 2 fetuses with Meckel syndrome who were born in a consanguineous family from Surinam with an Indian-Pakistani background. They were terminated at 17 and 29 weeks' gestation, respectively. Clinical features included occipital encephalocele, postaxial polydactyly of the hands and feet, renal cysts, and hepatic ductal plate malformations; 1 fetus had anencephaly.
### Joubert Syndrome 34
Bachmann-Gagescu et al. (2015) described 2 unrelated patients with Joubert syndrome and mutation in the B9D2 gene. Both patients had the molar tooth sign, polydactyly, and seizures. Patient UW284-3 had cleft palate, tibial and fibular mesomelic dysplasia, shunted hydrocephalus, interpeduncular heterotopia, poor pupillary response to light, micropenis, hearing loss, and patent ductus arteriosus. Patient UW309-3 had abnormal EEG, hypospadias, and dysmorphic features including frontal bossing, epicanthus, dysplastic ears, down-turned corners of the mouth, retrognathia, ptosis, and right eye exotropia.
Molecular Genetics
In 2 fetuses with MKS10, Dowdle et al. (2011) identified a homozygous mutation in the B9D2 gene (S101R; 611951.0001). The proband was from a larger cohort of 96 unrelated MKS patients. Immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1 (609883), although it retained its ability to interact with B9D1 (614144). The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. Disruption of any of the members of this complex can result in Meckel syndrome.
### Joubert Syndrome 34
In 2 unrelated patients (UW309-3 and UW284-3) with Joubert syndrome, Bachmann-Gagescu et al. (2015) identified homozygous (611951.0002) or compound heterozygous (611951.0003-611951.0004) mutations in the B9D2 gene, respectively. The mutations were identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variants were performed.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Frontal bossing (JBTS) Ears \- Dysplastic ears (JBTS) Eyes \- Ptosis (JBTS) \- Epicanthus (JBTS) \- Small palpebral fissures (JBTS) Mouth \- Cleft palate (JBTS) \- Tongue tumors (JBTS) ABDOMEN Biliary Tract \- Ductal plate malformation (MKS) \- Persistent of bile duct remnants (MKS) GENITOURINARY External Genitalia (Male) \- Micropenis (JBTS) \- Hypospadias (JBTS) Kidneys \- Renal cysts (MKS) SKELETAL Limbs \- Tibial and fibular mesomelic dysplasia (1 JBTS patient) Hands \- Postaxial polydactyly Feet \- Postaxial polydactyly SKIN, NAILS, & HAIR Skin \- Sacral dimple (MKS) NEUROLOGIC Central Nervous System \- Anencephaly (1 MKS patient) \- Occipital encephalocele (MKS) \- Seizures (JBTS) \- Molar tooth sign (JBTS) \- Foramen magnum encephalocele (1 JBTS patient) MISCELLANEOUS \- Two MKS fetuses and two JBTS patients have been reported (as of November 2017) MOLECULAR BASIS \- Caused by mutation in the B9 domain-containing protein 2 gene (B9D2, 611951.0001 ) ▲ 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
|
MECKEL SYNDROME, TYPE 10
|
c3280036
| 28,377 |
omim
|
https://www.omim.org/entry/614175
| 2019-09-22T15:56:14 |
{"omim": ["614175"]}
|
Dolichol kinase deficiency
Other namesHypotonia and ichthyosis due to dolichol phosphate deficiency[1]
This condition is inherited in an autosomal recessive manner.
Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.[2][3]
It is also known as Congenital disorder of glycosylation 1m.
## See also[edit]
* CEDNIK syndrome
* List of cutaneous conditions
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: DK1 CDG". www.orpha.net. Retrieved 11 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. ^ Kranz C, Jungeblut C, Denecke J, et al. (March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet. 80 (3): 433–40. doi:10.1086/512130. PMC 1821118. PMID 17273964.
## External links[edit]
Classification
D
* ICD-10: E77.8
* OMIM: 610768
External resources
* Orphanet: 91131
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism
* Dolichol kinase deficiency
* Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
* Mucolipidosis: I-cell disease (ML II)
* Pseudo-Hurler polydystrophy (ML III)
Catabolism
* Aspartylglucosaminuria
* Fucosidosis
* mannosidosis
* Alpha-mannosidosis
* Beta-mannosidosis
* Sialidosis
* Schindler disease
Other
* solute carrier family (Salla disease)
* Galactosialidosis
This dermatology 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
|
Dolichol kinase deficiency
|
c1835849
| 28,378 |
wikipedia
|
https://en.wikipedia.org/wiki/Dolichol_kinase_deficiency
| 2021-01-18T18:38:54 |
{"gard": ["12393"], "mesh": ["C563666"], "orphanet": ["91131"], "wikidata": ["Q5289050"]}
|
Essential thrombocythemia
Other namesEssential thrombocythaemia, essential thrombocytosis, primary thrombocytosis
SpecialtyHematology
Essential thrombocythemia (ET) is a rare chronic blood cancer (myeloproliferative neoplasm) characterised by the overproduction of platelets (thrombocytes) by megakaryocytes in the bone marrow.[1] It may, albeit rarely, develop into acute myeloid leukemia or myelofibrosis.[1] It is one of four myeloproliferative neoplasms (blood cancers) that occur when the body makes too many white or red blood cells, or platelets).[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 4.1 Indications
* 4.2 Agents
* 5 Prognosis
* 6 Epidemiology
* 7 Pregnancy
* 8 References
* 9 External links
## Signs and symptoms[edit]
Most people with essential thrombocythemia are without symptoms at the time of diagnosis, which is usually made after noting an elevated platelet level on a routine complete blood count (CBC).[2] The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism), fatigue, headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting, and numbness in the extremities; the most common signs are increased white blood cell count, reduced red blood cell count, and an enlarged spleen.[2][3][4]
## Cause[edit]
In ET, megakaryocytes are more sensitive to growth factors.[citation needed] Platelets derived from the abnormal megakaryocytes are activated, which, along with the elevated platelet count, contributes to the likelihood of forming blood clots.[5] The increased possibility of bleeding when the platelet count is over 1 million is due to von Willebrand factor (vWF) sequestration by the increased mass of platelets, leaving insufficient vWF for platelet adhesion.[5] A mutation in the JAK2 kinase (V617F) is present in 40–50% of cases and is diagnostic if present.[1][5] JAK2 is a member of the Janus kinase family.[1][5]
In 2013, two groups detected calreticulin mutations in a majority of JAK2-negative/MPL-negative patients with essential thrombocythemia and primary myelofibrosis, which makes CALR mutations the second most common in myeloproliferative neoplasms. All mutations (insertions or deletions) affected the last exon, generating a reading frame shift of the resulting protein, that creates a novel terminal peptide and causes a loss of endoplasmic reticulum KDEL retention signal.[6][7]
## Diagnosis[edit]
The following revised diagnostic criteria for essential thrombocythemia were proposed in 2005.[8] The diagnosis requires the presence of both A criteria together with B3 to B6, or of criterion A1 together with B1 to B6.[9] The criteria are as follows:[9]
* A1. Platelet count > 400 × 103/µL for at least 2 months.
* A2. Acquired V617F JAK2 mutation present
* B1. No cause for a reactive thrombocytosis
* normal inflammatory indices
* B2. No evidence of iron deficiency
* stainable iron in the bone marrow or normal red cell mean corpuscular volume
* B3. No evidence of polycythemia vera
* hematocrit < midpoint of normal range or normal red cell mass in presence of normal iron stores
* B4. No evidence of chronic myeloid leukemia
* But the Philadelphia chromosome may be present in up to 10% of cases. Patients with the Philadelphia chromosome have a potential for the development of acute leukemia, especially acute lymphocytic leukemia.
* B5. No evidence of myelofibrosis
* no collagen fibrosis and ≤ grade 2 reticulin fibrosis (using 0–4 scale)
* B6. No evidence of a myelodysplastic syndrome
* no significant dysplasia
* no cytogenetic abnormalities suggestive of myelodysplasia
## Treatment[edit]
### Indications[edit]
Not all those affected will require treatment at presentation.[10][11][12] People are usually split up into low and high risk for bleeding/blood clotting groups (based on their age, their medical history, their blood counts and their lifestyles), low risk individuals are usually treated with aspirin, whereas those at high risk are given hydroxycarbamide and/or other treatments that reduce platelet count (such as interferon-α and anagrelide).[1][10][11][12]
### Agents[edit]
Hydroxycarbamide, interferon-α and anagrelide can lower the platelet count. Low-dose aspirin is used to reduce the risk of blood clot formation unless the platelet count is very high, where there is a risk of bleeding from the disease, and hence this measure would be counter-productive as aspirin-use increases the risk of bleeding.[1][10][11][12]
The PT1 study compared hydroxyurea plus aspirin to anagrelide plus aspirin as initial therapy for ET. Hydroxyurea treated patients had a lower incidence of arterial thrombosis, lower incidence of severe bleeding and lower incidence of transformation to myelofibrosis, but the risk of venous thrombosis was higher with hydroxycarbamide than with anagrelide. It is unknown whether the results are applicable to all ET patients.[1][10][11][12] In people with symptomatic ET and extremely high platelet counts (exceeding 1 million), plateletpheresis can be used to remove platelets from the blood to reduce the risk of thrombosis.
## Prognosis[edit]
Essential thrombocythemia is sometimes described as a slowly progressive disorder with long asymptomatic periods punctuated by thrombotic or hemorrhagic events.[10] However, well-documented medical regimens can reduce and control the number of platelets, which reduces the risk of these thrombotic or hemorrhagic events. The lifespan of a well controlled ET person is well within the expected range for a person of similar age but without ET.[10] ET is the myeloproliferative neoplasm least likely to progress to acute myeloid leukemia.[citation needed]
## Epidemiology[edit]
The incidence of ET is 0.6-2.5/100,000 per year, the median age at onset is 65–70 years and it is more frequent in females than in males.[13] The incidence in children is 0.09/100,000 per year.[13]
## Pregnancy[edit]
Hydroxycarbamide and anagrelide are contraindicated during pregnancy and nursing.[14] Essential thrombocythemia can be linked with a three-fold increase in risk of miscarriage.[13] Throughout pregnancy, close monitoring of the mother and fetus is recommended.[14] Low-dose low molecular weight heparin (e.g. enoxaparin) may be used.[14] For life-threatening complications, the platelet count can be reduced rapidly using plateletpheresis, a procedure that removes platelets from the blood and returns the remainder to the patient.[14]
## References[edit]
1. ^ a b c d e f g h Beer, PA; Green, AR (2009). "Pathogenesis and management of essential thrombocythemia". Hematology. 2009: 621–8. doi:10.1182/asheducation-2009.1.621. PMID 20008247.
2. ^ a b Fu, R; Zhang, L; Yang, R (November 2013). "Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment". British Journal of Haematology. 163 (3): 295–302. doi:10.1111/bjh.12530. PMID 24032343.
3. ^ Frewin, R; Dowson, A (October 2012). "Headache in essential thrombocythaemia". International Journal of Clinical Practice. 66 (10): 976–83. doi:10.1111/j.1742-1241.2012.02986.x. PMC 3469735. PMID 22889110.
4. ^ Tefferi, A (March 2011). "Annual Clinical Updates in Hematological Malignancies: a continuing medical education series: polycythemia vera and essential thrombocythemia: 2011 update on diagnosis, risk-stratification, and management". American Journal of Hematology. 86 (3): 292–301. doi:10.1002/ajh.21946. PMID 21351120.
5. ^ a b c d Vannucchi, AM (June 2010). "Insights into the pathogenesis and management of thrombosis in polycythemia vera and essential thrombocythemia". Internal and Emergency Medicine. 5 (3): 177–84. doi:10.1007/s11739-009-0319-3. PMID 19789961. S2CID 510829.
6. ^ Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJ, Harrison CN, Cross NC, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR (Dec 2013). "Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2". The New England Journal of Medicine. 369 (25): 2391–405. doi:10.1056/NEJMoa1312542. PMC 3966280. PMID 24325359.
7. ^ Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R (Dec 2013). "Somatic mutations of calreticulin in myeloproliferative neoplasms". The New England Journal of Medicine. 369 (25): 2379–90. doi:10.1056/NEJMoa1311347. PMID 24325356. S2CID 14787432.
8. ^ Campbell PJ, Green AR (2005). "Management of Polycythemia Vera and Essential Thrombocythemia" (PDF). Hematology. 2005: 201–8. doi:10.1182/asheducation-2005.1.201. PMID 16304381.
9. ^ a b Vardiman, JW; Thiele, J; Arber, DA; Brunning, RD; Borowitz, MJ; Porwit, A; Harris, NL; Le Beau, MM; Hellström-Lindberg, E; Tefferi, A; Bloomfield, CD (July 2009). "The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes" (PDF). Blood. 114 (5): 937–51. doi:10.1182/blood-2009-03-209262. PMID 19357394.[permanent dead link]
10. ^ a b c d e f Cervantes, F (2011). "Management of Essential Thrombocythemia". Hematology. 2011: 215–21. doi:10.1182/asheducation-2011.1.215. PMID 22160037. S2CID 18862829.
11. ^ a b c d Birgegård, G (July 2013). "Pharmacological management of essential thrombocythemia". Expert Opinion on Pharmacotherapy. 14 (10): 1295–306. doi:10.1517/14656566.2013.797408. PMID 23668666. S2CID 11357000.
12. ^ a b c d Tefferi, A; Barbui, T (August 2013). "Personalized management of essential thrombocythemia-application of recent evidence to clinical practice". Leukemia. 27 (8): 1617–20. doi:10.1038/leu.2013.99. PMC 3740400. PMID 23558521.
13. ^ a b c Fabris, F; Randi, ML (October 2009). "Essential thrombocythemia: past and present". Internal and Emergency Medicine. 4 (5): 381–8. doi:10.1007/s11739-009-0284-x. PMID 19636672. S2CID 43185338.
14. ^ a b c d Valera, MC; Parant, O; Vayssiere, C; Arnal, JF; Payrastre, B (October 2011). "Essential thrombocythemia and pregnancy". European Journal of Obstetrics, Gynecology, and Reproductive Biology. 158 (2): 141–7. doi:10.1016/j.ejogrb.2011.04.040. PMID 21640467.
## External links[edit]
Classification
D
* ICD-10: D75.2, D47.3
* ICD-9-CM: 238.71
* ICD-O: M9962/3
* OMIM: 187950
* MeSH: D013920
* DiseasesDB: 4522
External resources
* MedlinePlus: 000543
* eMedicine: med/2266
* v
* t
* e
Disorders of bleeding and clotting
Coagulation · coagulopathy · Bleeding diathesis
Clotting
By cause
* Clotting factors
* Antithrombin III deficiency
* Protein C deficiency
* Activated protein C resistance
* Protein S deficiency
* Factor V Leiden
* Prothrombin G20210A
* Platelets
* Sticky platelet syndrome
* Thrombocytosis
* Essential thrombocythemia
* DIC
* Purpura fulminans
* Antiphospholipid syndrome
Clots
* Thrombophilia
* Thrombus
* Thrombosis
* Virchow's triad
* Trousseau sign of malignancy
By site
* Deep vein thrombosis
* Bancroft's sign
* Homans sign
* Lisker's sign
* Louvel's sign
* Lowenberg's sign
* Peabody's sign
* Pratt's sign
* Rose's sign
* Pulmonary embolism
* Renal vein thrombosis
Bleeding
By cause
Thrombocytopenia
* Thrombocytopenic purpura: ITP
* Evans syndrome
* TM
* TTP
* Upshaw–Schulman syndrome
* Heparin-induced thrombocytopenia
* May–Hegglin anomaly
Platelet function
* adhesion
* Bernard–Soulier syndrome
* aggregation
* Glanzmann's thrombasthenia
* platelet storage pool deficiency
* Hermansky–Pudlak syndrome
* Gray platelet syndrome
Clotting factor
* Hemophilia
* A/VIII
* B/IX
* C/XI
* von Willebrand disease
* Hypoprothrombinemia/II
* Factor VII deficiency
* Factor X deficiency
* Factor XII deficiency
* Factor XIII deficiency
* Dysfibrinogenemia
* Congenital afibrinogenemia
Signs and symptoms
* Bleeding
* Bruise
* Hematoma
* Petechia
* Purpura
* Nonthrombocytopenic purpura
By site
* head
* Epistaxis
* Hemoptysis
* Intracranial hemorrhage
* Hyphema
* Subconjunctival hemorrhage
* torso
* Hemothorax
* Hemopericardium
* Pulmonary hematoma
* abdomen
* Gastrointestinal bleeding
* Hemobilia
* Hemoperitoneum
* Hematocele
* Hematosalpinx
* joint
* Hemarthrosis
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
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Essential thrombocythemia
|
c0040028
| 28,379 |
wikipedia
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https://en.wikipedia.org/wiki/Essential_thrombocythemia
| 2021-01-18T19:00:49 |
{"gard": ["6594"], "mesh": ["D013920"], "umls": ["C0040028", "C3277671"], "orphanet": ["3318", "71493"], "wikidata": ["Q1368780"]}
|
Abortion in Romania is currently legal as an elective procedure during the first 14 weeks of pregnancy, and for medical reasons at later stages of pregnancy.[1] In the year 2004, there were 216,261 live births and 191,000 reported abortions,[2] meaning that 46% of the 407,261 reported pregnancies that year ended in abortion.
Abortion was also legal on-demand from 1957 to 1966.[3] From 1967 to 1990 abortion was severely restricted, in an effort of the Communist leadership to increase the fertility rate of the country.
## Contents
* 1 History
* 1.1 Before communism
* 1.2 During the communist regime
* 1.2.1 Decree 770
* 1.2.2 Enforcement of the decree and social control
* 1.3 After 1989
* 2 Legal framework under the 2014 Penal Code
* 3 Abortion rates after 1989
* 4 Future effects of the communist abortion policy
* 5 See also
* 6 References
## History[edit]
### Before communism[edit]
Abortion was illegal in Romania as in other European countries, but Romania's punishment for abortion was less severe compared to many other European countries during that historical period. The Penal Code of 1864, which followed shortly after the union of the Principalities of Moldavia and Wallachia, and was in force between 1865 and 1936, banned abortion. Article 246 punished the person who performed the abortion with "minimul recluziunei" (a shorter form of imprisonment), while the pregnant woman who procured her own abortion could be punished with between 6 months – 2 years imprisonment. The punishment increased for the persons who performed abortion if they were medical workers, or if the pregnant woman died.[4]
Abortion remained illegal under Romania's 1936 Criminal Code, except if needed to save the pregnant woman's life or if the child risked inheriting a severe genetic disorder. Articles 482-485 of that code dealt with abortion.[5] The punishment for both the person performing an abortion and the pregnant woman who procured the abortion were 3–6 months if she was unmarried; and 6 months-1 year if she was married. The punishments increased if the woman didn't consent to the abortion, if she was severely injured, or if she died. Medical personnel or pharmacists involved in performing abortions were barred for practicing the profession for 1–3 years. The significance of such legal provisions must be understood in an international context: for instance as late as 1943, in France, abortionist Marie-Louise Giraud was executed for performing abortions.
Abortion on demand was first legalized in Romanian in 1957 and stayed legal until 1966, when it was again outlawed by Nicolae Ceaușescu. It was legalized again after the Romanian Revolution.
### During the communist regime[edit]
While Romania became a communist state at the end of 1947, this section focuses on the time period from 1966 to 1989 during Nicolae Ceaușescu's rule.
#### Decree 770[edit]
In 1957 the procedure was officially legalized in Romania, following which 80% of pregnancies ended in abortion, mainly due to the lack of effective contraception. By 1966, the national birthrate had fallen from 19.1 per 1,000 in 1960 to 14.3 per 1,000, a decline that was attributed to the legalization of abortion nine years previously.[6] In an effort to ensure "normal demographic growth", Decree 770 was authorized by Nicolae Ceaușescu's government. The decree criminalized abortion except in the following cases:
* women over 45 (lowered to 40 in 1974, raised back to 45 in 1985)[6][7]
* women who had already delivered and reared four children (raised to five in 1985)[6][7]
* women whose life would be threatened by carrying to term due to medical complications[6][7]
* women whose fetuses were malformed[8]
* women who were pregnant through rape or incest[6][7]
The effect of this policy was a sudden transition from a birth rate of 14.3 per 1,000 in 1966 to 27.4 per 1,000 in 1967, though it fell back to 14.3 in 1983.[6]
Initially, this natalist policy was completed with mandatory gynecological revisions and penalties for single women over 25 and married couples without children,[7] but starting in 1977, all "childless persons", regardless of sex or marital status, were fined monthly "contributions" from their wages, whose size depended on the sector in which the person worked.[6] The state glorified child-rearing, and in 1977 assigned official decorations and titles to women who went above and beyond the call of duty and had more than the required number of children.[6]
Upon the death of Gheorghe Gheorghiu-Dej in 1965, Ceaușescu succeeded to the leadership of Romanian Workers' Party as First Secretary. Like the previous leader, Ceaușescu officially promoted gender equality, but also desired to increase the nation's population.[6][9] In his rhetoric, he stressed the "distinguished role and noble mission" found in child-rearing, and promised state-sponsored assistance in the form of childcare centers, accessible medical care, maternity leave, and work protection so that women could combine large families with work outside the home.[6] Ceaușescu's ideas of mandating large families were inspired by the Stalinist USSR (abortion was illegal in USSR between 1936 and 1955), as well as by his own conservative upbringing in rural Olt county.[10] Ceaușescu promoted an ideal of the superwoman, active in the workforce, politically involved, raising many children, taking care of the household chores, and succeeding in doing all these at the same time. There were no attempts to provide for equitable sharing of chores within the family (between the husband and wife) - like most communist regimes, Romanian politics too considered it sufficient to promote gender equality in the public sphere, not the private one; the personal relations and gender roles within the family were ignored.[11] Ceaușescu's government was unable to provide much of its promised assistance to families, leaving many families in difficult situations and unable to cope,[6] with the natalist policy being a contributor to the severe problem of child abandonment, where large numbers of children ended living in Romanian orphanages, infamous for institutionalised neglect and abuse.[10] During the 1990s, the street children seen in Romanian cities were a reminder of this policy.[12] A relatively similar policy of restricted reproductive rights during that period also existed in Communist Albania, under Enver Hoxha.
The 1980s austerity policy in Romania imposed by Ceaușescu in order to pay out the external debt incurred by the state in the 1970s, aggravated poverty in the country making it even more difficult to raise children. The vast majority of children who lived in the communist orphanages were not actually orphans, but were simply children whose parents could not afford to raise them.[13] There were also other social problems, in particular the overcrowding of both homes and school classrooms; as Ceaușescu's natalist policy also coincided with mass population migration from rural areas to cities.[14] Most of these families were housed in standardized apartment blocks that were built in large numbers across Romanian cities during systematization.
Ceaușescu's desire for large families proved unrealistic within Romanian society, which at the time was plagued by poverty, and where the state, despite its rhetoric, provided only nominal social benefits and programmes. As a result, rates of illegal abortions were very high, especially in big cities. Realizing that the demographic policies had not worked as planned, the government's campaigns became very aggressive after 1984: women of reproductive age were very closely monitored, were required to undergo regular gynaecological examinations at their place of employment, and investigations were carried out to determine the cause of all miscarriages. Increased taxes on childlessness and on unmarried persons were enforced.[15] In 1985, a woman who worked at the APACA textile factory died after an illegal abortion, and her case was used by the authorities as an example on the necessity to avoid abortion and obey the law.[16][17]
In addition to outlawing abortion, Ceaușescu also promoted early marriage (immediately after finishing school), made divorce very difficult to obtain, and criminalized adultery and homosexuality in the 1969 Criminal Code even if done in private and without "public scandal" (a difference from the previous 1936 code). The policies towards unmarried people were harsh: they received very poor housing (named cămine de nefamilişti[18]) and were considered unfit citizens.
#### Enforcement of the decree and social control[edit]
Graph showing the birth rate in Romania. A huge surge of the birth rate in 1967 is the most prominent feature of the graph
To enforce the decree, society was strictly controlled. Motherhood was described as "the meaning of women's lives" and praised in sex education courses and women's magazines, and various written materials were distributed detailing information on prenatal and child care, the benefits of children, ways to ensure marital harmony, and the consequences of abortion.[6] Contraceptives disappeared from the shelves and were soon only available to educated urban women with access to the black market, many of them with Hungarian roots.[6] In 1986, any woman working for or attending a state institution was forced to undergo at least annual gynecological exams to ensure a satisfying level of reproductive health as well as detect pregnancy, which were followed until birth.[6] Women with histories of abortion were watched particularly carefully.[6]
Medical practitioners were also expected to follow stringent policies and were held partially responsible for the national birthrate. If they were caught breaking any aspect of the abortion law, they were to be incarcerated, though some prosecutors were paid off in exchange for a lesser sentence.[6] Each administrative region had a Disciplinary Board for Health Personnel, which disciplined all law-breaking health practitioners and on occasion had show trials to make examples of people. Sometimes, however, punishments were lessened for cooperation.[6] Despite the professional risks involved, many doctors helped women determined to have abortions, recognizing that if they did not, she would turn to a more dangerous, life-threatening route. This was done by falsely diagnosing them with an illness that qualified them for an abortion, such as diabetes or hepatitis, or prescribing them drugs that were known to counter-induce pregnancy, such as chemotherapy or antimalarial drugs.[6] When a physician did not want to help or could not be bribed to perform an abortion, however, women went to less experienced abortionists or used old remedies.[6]
From 1979 to 1988, the number of abortions increased, save for a decline in 1984-1985.[6] Despite this, many unwanted children were born, as their parents could scarcely afford to care for the children they already had, and were subsequently abandoned in hospitals or orphanages. Some of these children were purposely given AIDS-infected transfusions in orphanages; others were trafficked internationally through adoption.[6] Those born in this period, especially between 1966 and 1972, are nicknamed the decreţei (singular decreţel), a word with a negative nuance due to the perceived mental and physical damage due to the risky pregnancies and failed illegal abortions.[19] Over 9,000 women died between 1965 and 1989 due to complications arising from illegal abortions.[6]
### After 1989[edit]
This policy was reversed in 1990, after the Romanian Revolution, and, since that time, abortion has been legal on request in Romania.
There have been attempts to restrict the practice of abortion, such as in 2012, when Sulfina Barbu, an MP of the Democratic Liberal Party proposed a legislative initiative, requiring women wanting to undergo an abortion to attend psychological counseling sessions, and to "reflect" for five days. Such attempts have been claimed to be motivated by the demographic downfall of Romania; and have been strongly criticized.[20]
Mifepristone (medical abortion) was registered in 2008.[21][22]
## Legal framework under the 2014 Penal Code[edit]
The new Penal Code, which came into force in 2014, regulates the procedure of abortion. Article 201 (1) punishes the performing of an abortion when done under any of these following circumstances: (a) outside medical institutions or medical offices authorized for this purpose; (b) by a person who is not a certified physician in the domain of obstetrics and gynecology and free to practice this profession; or (c) if the pregnancy has exceeded fourteen weeks. An exception to the fourteen weeks limit is provided by section (6) of Article 201, which stipulates that performing an abortion is not an offense if done for therapeutic purposes by a certified doctor until twenty-four weeks of pregnancy, and even after the twenty-four weeks limit, if the abortion is needed for therapeutic purposes "in the interest of the mother or the fetus". If the woman did not consent to the abortion; if she was seriously injured by the procedure; or if she dies as a result of it, the penalties are increased - sections (2) and (3) of Article 201. If the acts are done by a doctor, apart from criminal punishment, the doctor is also prohibited from practicing the profession in the future - section (4) of Article 201. Section (7) of Article 201 stipulates that a pregnant woman who provokes her own abortion will not be punished.[1]
## Abortion rates after 1989[edit]
Abortion statistics, according to the National Institute of Statistics for data between 1990 and 2010[23] and according to Eurostat for data between 2011 and 2018[24][25]
Year Abortions Per 1,000 women Per 1,000 live-births
1990 899,654 177.6 3,158.4
1991 866,934 153.8 3,156.6
1992 691,863 124.2 2,663.0
1993 585,761 104.0 2,348.4
1994 530,191 93.2 2,153.5
1995 502,840 87.5 2,129.5
1996 455,340 78.6 1,971.9
1997 346,468 59.5 1,465.6
1998 270,930 46.5 1,144.0
1999 259,266 44.6 1,107.5
2000 257,267 44.3 1,099.5
2001 253,426 43.6 1,153.3
2002 246,714 44.0 1,174.9
2003 223,914 39.9 1,056.5
2004 189,683 33.8 879.5
2005 162,087 29.0 735.1
2006 149,598 27.0 683.5
2007 136,647 24.8 638.1
2008 127,410 23.5 578.3
2009 115,457 21.3 520.9
2010 101,271 18.8 478.9
2011 103,383
2012 88,135
2013 86.432 14.9 458.3
2014 78,371 13.6 394.3
2015 70,885 12.4 350.9
2016 63,518 11.3 317.6
2017 56,238 10.1 278.2
2018 52,318
United Nations data puts the abortion rate at 21.3 abortions per 1000 women aged 15–44 years in 2010.[26] Romania has a high prevalence of abortion: in a 2007 survey 50% of women said they had undergone an abortion during their lifetime.[27]
## Future effects of the communist abortion policy[edit]
Ceaușescu's demographic policies are feared of having very serious effects in the future because of the very low number of births in the 1990's and 2000's. In Romania, the generations born under Ceaușescu are very large (especially the late 1960s and the 1970s), while those born in the 1990s and 2000s are very small. This is believed to cause a very serious demographic shock when the former generations retire, as there will not be sufficient young people to form the workforce and support the elderly.[28][29][30]
## See also[edit]
* 4 Months, 3 Weeks and 2 Days, a Romanian film about a pregnant student looking for an illegal abortion during the Ceauşescu regime.
* Romanian orphans
## References[edit]
1. ^ a b "Noul Cod Penal (2014)". Avocatura.com. Retrieved 19 July 2017.
2. ^ Abortion statistics of Romania up to 2004. Johnstonsarchive.net, Retrieved 2007-08-04.
3. ^ "Archived copy" (PDF). Archived from the original (PDF) on 2013-03-13. Retrieved 2012-10-07.CS1 maint: archived copy as title (link)
4. ^ Systems, Indaco. "Codul Penal din 1864". Lege5.ro. Archived from the original on 2 October 2017. Retrieved 19 July 2017.
5. ^ Systems, Indaco. "Codul Penal din 1936". Lege5.ro. Archived from the original on 24 May 2017. Retrieved 19 July 2017.
6. ^ a b c d e f g h i j k l m n o p q r s t u v Kligman, Gail. "Political Demography: The Banning of Abortion in Ceausescu's Romania". In Ginsburg, Faye D.; Rapp, Rayna, eds. Conceiving the New World Order: The Global Politics of Reproduction. Berkeley, CA: University of California Press, 1995 :234-255. Unique Identifier : AIDSLINE KIE/49442.
7. ^ a b c d e Scarlat, Sandra. "'Decreţeii': produsele unei epoci care a îmbolnăvit România" ("'Scions of the Decree': Products of an Era that Sickened Romania") Archived 2007-09-26 at the Wayback Machine, Evenimentul Zilei, May 17, 2005.
8. ^ Horga, Mihai; Gerdts, Caitlin; Potts, Malcolm (1 January 2013). "The remarkable story of Romanian women9s struggle to manage their fertility". J Fam Plann Reprod Health Care. 39 (1): 2–4. doi:10.1136/jfprhc-2012-100498. PMID 23296845. Retrieved 19 July 2017.
9. ^ Kligman, Gail. The Politics of Duplicity: Controlling Reproduction in Ceausescu's Romania. Berkeley, CA: University of California Press, 1998.
10. ^ a b Steavenson, Wendell (10 December 2014). "Ceausescu's children". The Guardian. Retrieved 19 July 2017.
11. ^ "Imaginea şi rolul femeii în perioada comunistă". Historia.ro. Retrieved 19 July 2017.
12. ^ "Romania's Street Children". web.stanford.edu. Retrieved 19 July 2017.
13. ^ "BBC NEWS - Europe - What happened to Romania's orphans?". news.bbc.co.uk. Retrieved 19 July 2017.
14. ^ Adriana Mihaela Soaita. "Overcrowding and 'under-occupancy' in Romania : a case study of housing inequality". Research-repository.st-andrews.ac.uk. Retrieved 1 October 2017.
15. ^ "ABORTION POLICY" (DOC). Un.org. Retrieved 1 October 2017.
16. ^ "Povestea de groază din spatele „afacerii decreţeilor" comunişti. Numărul terifiant al româncelor moarte din cauza avorturilor ratate în perioada 1966-1989". Adevarul.ro. Retrieved 19 July 2017.
17. ^ "Decreţeii – generaţia copiilor născuţi de frica morţii". Descopera.ro. Retrieved 19 July 2017.
18. ^ "Viata intr-o cutie de chibrituri". Evz.ro. Retrieved 19 July 2017.
19. ^ decreţel Archived 2009-05-19 at the Wayback Machine in the 123Urban dictionary
20. ^ "Proiectul legii anti-avort - un atentat împotriva femeilor şi al familiilor - Romania Libera". RomaniaLibera.ro. Retrieved 19 July 2017.
21. ^ "Gynuity Health Projects » List of Mifepristone Approval". Gynuity.org. Archived from the original on 2017-09-26. Retrieved 1 October 2017.
22. ^ Worrell, Marc. "Romania". Women on Waves. Retrieved 1 October 2017.
23. ^ [1][permanent dead link]
24. ^ "Legally induced abortions by mother's age". ec.europa.eu/eurostat. Retrieved 24 June 2020.
25. ^ "Abortion indicators". ec.europa.eu/eurostat. Retrieved 24 June 2020.
26. ^ "World Abortion Policies 2013". United Nations. 2013. Retrieved 3 March 2014.
27. ^ "AVORTUL ÎNTRE DREPT CÂŞTIGAT, RESPINGERE MORALĂ ŞI PRACTICĂ LARG RĂSPÂNDITĂ" (PDF). Fundatia.ro. Archived from the original (PDF) on 2015-09-24. Retrieved 1 October 2017.
28. ^ "Ce se va intampla cand vor iesi la pensie "decreteii", cei 1,7 milioane de romani care sustin economia? - Ziarul Financiar". Zf.ro. Retrieved 19 July 2017.
29. ^ "Pensiile "decreţeilor" sunt o bombă cu ceas. Statul le poate plăti 15% din salariu la bătrâneţe - Ziarul Financiar". Zf.ro. Retrieved 19 July 2017.
30. ^ "APOCALIPSA pensiilor vine după 2030. Cum poate fi DEZAMORSATĂ BOMBA SOCIALA produsă de Ceaușescu printr-un DECRET ORIBIL". Evz.ro. Retrieved 19 July 2017.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[E2]: estradiol
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
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*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
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*[CPA]: cyproterone acetate
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*[lit.]: literal translation
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*[XLSMA]: X-linked spinal muscular atrophies
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|
Abortion in Romania
|
None
| 28,380 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Romania
| 2021-01-18T18:56:48 |
{"wikidata": ["Q4668490"]}
|
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.
PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.
## Frequency
PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing syndrome is about 1 in 26,000 people.
## Causes
In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH.
PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH.
Mutations in other genes, some of which are unknown, can also cause PMAH.
### Learn more about the genes associated with Primary macronodular adrenal hyperplasia
* APC
* ARMC5
* FH
* GNAS
* MC2R
* MEN1
Additional Information from NCBI Gene:
* PDE11A
## Inheritance Pattern
People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance.
When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands.
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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
|
Primary macronodular adrenal hyperplasia
|
c1857451
| 28,381 |
medlineplus
|
https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/
| 2021-01-27T08:24:44 |
{"gard": ["10824"], "mesh": ["C565662"], "omim": ["219080", "615954"], "synonyms": []}
|
## Clinical Features
Nezelof et al. (1964) first reported the syndrome of T-cell deficiency with little or no abnormality of gammaglobulin. The possibility of a separate entity distinct from Bruton type agammaglobulinemia (300755), in which the tonsillar system is absent, and from severe combined immunodeficiency (SCID; see, e.g., 300400 and 601457), in which both the thymus and the tonsillar systems are absent, was postulated also by Cooper et al. (1965). In Nezelof syndrome, the defect may be limited to the thymus system which is responsible for cellular immunity. The cases of Allibone et al. (1964) may be examples.
Fulginiti et al. (1966) observed 2 sisters in 1 family and a brother and sister in another family with thymic dysplasia (similar to that seen in Swiss-type agammaglobulinemia), lymphopenia and normal immunoglobulins. Three died before age 2 years of recurrent pseudomonas and monilia infections. The living child displayed impaired delayed hypersensitivity. No skin reactions to mumps, parainfluenza, or monilia antigens were observed. Repeated attempts to produce sensitivity to fluorodinitrobenzene failed and a skin graft from the mother showed no skin rejection. Fireman et al. (1966) reported a case.
Nahmias et al. (1967) observed marked susceptibility to measles with death from giant cell pneumonia. Autopsy showed plasma cells but no small lymphocytes and no thymus. In the black sibship they described, 3 girls and 1 boy were definitely affected and another girl may have been affected. Humoral immunity is normal but cellular immunity is deficient, findings opposite to those of congenital agammaglobulinemia (Kretschmer et al., 1968).
Lawlor et al. (1974) referred to the Nezelof syndrome as the 'syndrome of cellular immunodeficiency with immunoglobulins.' Despite normal or increased levels of one or more of the major immunoglobulin classes, antibody synthesis is impaired.
Rezza et al. (1974) reported a mother and 2 of her 3 children with deficiency in the thymus-dependent immune system. They postulated either a partial defect or precocious involution of the thymus. The children had recurrent herpes labialis and chronic bronchopulmonary infection leading to bronchiectasis and emphysema. Together with the mother, they had lymphopenia and a defect in T-lymphocyte-dependent reactions. The mother, 'though of frail habitus,' had always been healthy and the defect demonstrated in the laboratory was much less severe than that in the children.
Inheritance
Nezelof (1968) presented a pedigree strongly suggestive of autosomal recessive inheritance.
Skel \- Metaphyseal dysostosis Growth \- Failure to thrive Immunology \- Absent thymus \- T-cell deficiency \- Impaired delayed hypersensitivity \- Poor skin graft rejection \- Normal humoral immunity \- Normal or increased levels of one or more of the major immunoglobulin classes \- Impaired antibody synthesis \- Cellular immune defect \- Decreased lymphoid tissue but plasma cells present Skin \- Eczematoid rash \- Pyoderma Pulmonary \- Chronic bronchopulmonary infection \- Bronchiectasis \- Emphysema Inheritance \- Autosomal recessive \- some X-linked reports Misc \- Recurrent pseudomonas and monilia infections \- Susceptibility to viral infections GI \- Chronic diarrhea \- Hepatosplenomegaly Heme \- Lymphopenia ▲ 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
|
IMMUNE DEFECT DUE TO ABSENCE OF THYMUS
|
c0152094
| 28,382 |
omim
|
https://www.omim.org/entry/242700
| 2019-09-22T16:26:23 |
{"doid": ["2012"], "mesh": ["C536288"], "omim": ["242700"], "orphanet": ["83471"], "synonyms": ["Alternative titles", "T-LYMPHOCYTE DEFICIENCY", "NEZELOF SYNDROME", "THYMIC APLASIA"]}
|
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-18 (ATFB18) is caused by mutation in the MYL4 gene (160770) on chromosome 17q21. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 (608583).
Clinical Features
Orr et al. (2016) studied a 3-generation family with atrial fibrillation (AF), conduction disease, and reduced left atrial function. The proband was a 32-year-old woman who presented at age 26 years with palpitations, at which time electrocardiography (ECG) showed atrial fibrillation with a slow ventricular rate response. During periods of sinus rhythm, extremely low amplitude P-waves and prolonged atrioventricular (AV) conduction (first-degree AV block) were observed. Intracardiac electrophysiologic studies demonstrated large areas of electrical silence within the left atrium, and some regions of the left and right atria showed rapid electrical signals consistent with ongoing atrial arrhythmia. Despite catheter ablation, the patient continued to experience paroxysmal AF. The proband's 53-year-old mother first presented with AF at age 32 years. She had a permanent pacemaker implanted at age 48 due to bradycardia in the setting of permanent AF. Echocardiography revealed an enlarged left atrial volume index and profoundly decreased left atrial function index, with normal biventricular size and function. The proband's 29-year-old sister presented at age 25 with palpitations and was found to have frequent episodes of AF; she also demonstrated very low amplitude P-waves and first-degree AV block on ECG. In addition, 48-hour ambulatory heart rate monitoring showed profound sinus bradycardia with sinus rates as low as 33 beats per minute. Echocardiography showed an enlarged left atrium and decreased left atrial function. Arrhythmia screening offered to other family members revealed a 22-year-old sister and a 50-year-old maternal uncle with permanent AF, and a 20-year-old cousin with low amplitude P-waves and first-degree AV block on ECG, but no AF.
Molecular Genetics
In a 3-generation family with atrial fibrillation, negative for mutation in 8 AF-associated genes, Orr et al. (2016) performed whole-exome sequencing and identified a heterozygous missense mutation in the MYL4 gene (E11K; 160770.0001) that segregated with disease in the family. The mutation was not found in 10 unrelated controls or in public variant databases. Sequencing of the MYL4 gene in 100 unrelated patients with isolated AF did not reveal any potentially pathogenic variants. Orr et al. (2016) noted that in large-scale whole-genome sequencing of the Icelandic population, Gudbjartsson et al. (2015) identified a founder frameshift mutation in MYL4 (c.234delC), which was present in 1.5% of the southern Icelandic population and associated with AF as a homozygous phenotype.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Palpitations \- Paroxysmal atrial fibrillation (in some patients) \- Permanent atrial fibrillation (in some patients) \- Slow ventricular rate response \- Bradycardia (in some patients) \- Very low amplitude P-waves \- Prolonged P-R interval \- Reduced left atrial function MISCELLANEOUS \- Based on report of 1 family (last curated December 2016) MOLECULAR BASIS \- Caused by mutation in the embryonic atrial alkali myosin light chain-4 gene (MYL4, 160770.0001 ) ▲ 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
|
ATRIAL FIBRILLATION, FAMILIAL, 18
|
c4310636
| 28,383 |
omim
|
https://www.omim.org/entry/617280
| 2019-09-22T15:46:17 |
{"omim": ["617280", "608583"], "orphanet": ["334"], "synonyms": []}
|
Cerebral vasospasm is the prolonged, intense vasoconstriction of the larger conducting arteries in the subarachnoid space which is initially surrounded by a clot.
Significant narrowing of the blood vessels in the brain develops gradually over the first few days after the aneurysmal rupture. This kind of narrowing usually is maximal in about a week's time following intracerebral haemorrhage.
Vasospasm is the one of the leading causes of death after the aneurysmal rupture along with the effect of the initial haemorrhage and later bleeding.[1]
## References[edit]
1. ^ Murthy T V, Bhatia MP, Prabhakar BT. (2005), "Cerebral vasospasm: Aetiopathogenesis and intensive care management", Indian J Crit Care Med, 9: 42–6CS1 maint: uses authors parameter (link)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
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{"mesh": ["D020301"], "umls": ["C0751895"], "wikidata": ["Q5064103"]}
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Abortion in Mexico is a controversial issue. Its legal status varies by state. The procedure is available on request to any woman up to twelve weeks into a pregnancy in Mexico City and the state of Oaxaca,[1][2] but is severely restricted in the other states.[3][4] As of April 2015[update], 138,792 abortions have been carried out in the capital city since its decriminalization (2007).[5] The abortion laws and their enforcement vary by region, but in conservative parts of the country, women are routinely prosecuted and convicted for having abortions: More than 679 women have been convicted for abortion in conservative-leaning states, such as Guanajuato.[4][6]
## Contents
* 1 History
* 2 Legality
* 2.1 State law and court decisions
* 2.2 Influence from CEDAW
* 2.3 Effects of legislation
* 2.3.1 Impact on health and the economy
* 3 Demographics and public opinion
* 3.1 Political community
* 3.2 Anti-abortion movement by the Catholic Church
* 3.3 Recent surveys
* 4 See also
* 5 References
## History[edit]
See also: History of abortion
In 1931, fourteen years after the writing of the national Constitution, the Mexican Government addressed abortion by making it illegal, except in the cases when the abortion is caused by the negligence of the mother, continuation of the pregnancy endangers the life of the mother, or in pregnancy resulting from rape.[7][8][9]
In 1974, Mexico introduced the Ley General de Población, a law requiring the government to provide free family planning services in all public health clinics and a National Program for Family Planning to coordinate it.[10] The same year, Mexico amended its constitution to recognize every Mexican citizen's "right to freely decide, in a responsible and informed manner, on the number and spacing of their children."[10][11] In 1991, the state of Chiapas legalized abortion.[12]
As of 10 January 2011[update]:
States with legal Constitutional protection for all people from conception to natural death
Mexico City offers abortion on request to any woman up to twelve weeks of pregnancy
Until the 1990s, the Mexican government considerably expanded its family planning services to rural areas and less-developed parts of the country, reducing inequalities in family planning services and contraceptive provision.[10] Contraceptive use doubled from 1976, but the annual rate of increase slowed down in 1992 and has come to a standstill in recent years.[10][13]
According to data provided by the Guttmacher Institute, in 1996, Mexico had the lowest percentage of women in Latin America who underwent an abortion procedure, at 2.5%.[14] In 2009, Mexico's national abortion rate was at about 38 abortions per 1,000 for women between the ages of 15 and 44, at 3.8%. The rates are important to consider because of Mexico's stringent anti-abortion laws and so might not be the most accurate representation of the actual data.[10][15]
## Legality[edit]
See also: Abortion law
On April 24, 2007, the Legislative Assembly of the Federal District (LAFD) reformed Articles 145 to 148 of the Criminal Code and Article 14 of the Health Code, all dealing with abortion; 46 of the 66 members (from five distinct parties) of the Legislative Assembly of the Federal District approved the new legislation.[16] The changes expanded the previous law, which had allowed legal abortions in four limited circumstances.[17] In Mexico, abortion proceedings fall under local state legislation. A landmark Supreme Court decision in 2008 found no legal impediment to it in the Mexican Constitution and stated that "to affirm that there is an absolute constitutional protection of life in gestation would lead to the violation of the fundamental rights of women".[18]
All states' penal codes permit abortions in cases of rape, and all but Guanajuato, Guerrero, and Querétaro's permit it to save the mother's life. Fourteen out of thirty-one expand these cases to include severe fetal deformities, and the state of Yucatán includes economic factors when the mother has previously borne three or more children.[19] Nevertheless, according to Jo Tuckman of The Guardian, in practice, almost no state provides access to abortions in the cases listed. They also prosecute neither the doctors who offer safe illegal abortions nor the cheaper life-threatening backstreet practitioners.[20]
There are, however, some exceptions. Since 2007, Mexico City, where approximately 7.87% of the national population lives,[21] offers abortion on request to any woman up to 12 weeks into a pregnancy,[22] which, along with Cuba and Uruguay and Argentina, is one of the most liberal legislations on this matter in Latin America.[20] In contrast, recent political lobbying on behalf of the dominant Roman Catholic Church and anti-abortion organizations has resulted in the amendment of more than half of the state constitutions, which now define a fertilized human egg as a person with a right to legal protection.[23] As of 15 October 2009[update], none of those states removed its exceptions to abortion to reflect the changes in its constitution,[19] but according to Human Rights Watch and a local NGO, over the past eight years, the conservative-leaning state of Guanajuato "has denied every petition by a pregnant rape victim for abortion services", and about 130 of its residents have been sentenced for seeking or providing illegal abortion.[24] However, these days the government is aware of the existence of the institution called 'Las Libres de Guanajuato' which provides abortions and support for women in need, and ignores its existence.[25]
Following the decriminalization of abortions in the Distrito Federal, also known as Mexico City, the states of Baja California and San Luis Potosí enacted laws in 2008 bestowing “personhood” rights from the moment of conception.[26] In September 2011, the Supreme Court rejected two actions to overturn the laws enacted by the states of Baja California and San Luis Potosí for unconstitutionality. The Court recognized "the power of the state legislature" to enact laws on the subject. However, their decision does not criminalize or decriminalize abortion in Mexico.[7][22]
### State law and court decisions[edit]
Map of Mexico demonstrating Abortion Laws by State:
Legal on request up until 12 weeks
Illegal with exception for rape, maternal life, fetal defects, if abortion was accidental, or economic factors (if woman already has 3 children)
Illegal with exception for rape, maternal life, health, fetal defects, and/or if abortion was accidental
Illegal with exception for rape, maternal life, health, and/or if abortion was accidental
Illegal with exception for rape, maternal life, and/or if abortion was accidental
Exception for if pregnancy was result of involuntary artificial insemination
The National Supreme Court of Justice ruled on August 7, 2019 that rape victims have the right to receive abortions in public hospitals. Girls younger than 12 need parental permission.[27]
On September 25, 2019, Oaxaca became the second state, after Mexico City, to decriminalize abortion up to 12 weeks of pregnancy. The vote in the state legislature was 24 in favor and 12 against. It is estimated that 9,000 illegal abortions are performed in Oaxaca every year, 17% of them on women of 20 or younger. Abortion is the third cause of maternal mortality, and there are currently 20 women in prison for illegal abortions.[28]
In October 2019, Las Comisiones Unidas de Procuración y Administración de Justicia y de Igualdad de Género (The United Commissions for the Procuration and Administration of Justice and Gender Equality) in Puebla vote against decriminalization of abortion and legalization of same-sex marriage. The penalty for abortion is reduced from five to one year. A majority of the legislators were elected by the Together We Will Make History coalition and Marcelo García Almaguer of National Action Party called out members of National Regeneration Movement for double-talk since they call themselves "progressives" yet voted to support the criminalization of women.[29]
### Influence from CEDAW[edit]
The Convention on the Elimination of All Forms of Discrimination against Women (CEDAW) recognizes "the need for access to abortion services in cases where abortion is legal, and calls for a review of the laws where abortion is illegal".[16] The CEDAW Committee's recommendations to the Mexican State in 2006 specifically mention these issues.[16] CEDAW "encourages states to enact measures that ensure access to health care for women as a matter of gender equality".[16] Since Mexico signed the United Nations treaties and conventions, it is bound to above-mentioned standards.[16]
### Effects of legislation[edit]
With the new legislation, the law redefines the term ‘abortion’.[16] An abortion is the legal termination of a pregnancy of 13 weeks of gestation or more.[16] During the first 12 weeks of gestation, the procedure is labeled the ‘legal termination of pregnancy’.[16] In addition, the term ‘pregnancy’ was officially defined as beginning when the embryo is implanted in the endometrium.[16] This helps to determine gestational age, and, according to the research team of Maria Sanchez Fuentes, "implicitly legitimizes any post-coital contraceptive method, including emergency contraception ... and assisted reproduction (including infertility treatments such as IVF) and stem-cell research".[16] Women charged with having an illegal abortion have their sentences reduced, and the penalty for forcing a woman to have an abortion against her own will, which includes her partner or a physician, is increased.[16] If physical violence is involved, the penalty is even higher.[16] Furthermore, the law explicitly states that sexual and reproductive health are a priority in health services, with the goal of preventing unwanted pregnancies and sexually transmitted infections (STIs).[16]
According to an unofficial report by the organization Grupo de Información en Reproducción Elegida (GIRE), between 2009 and 2011, 679 women have charged with the crime of abortion in the interior of the country.[30][31] In the report, GIRE states that having legislation for each entity makes "access to abortion a matter of social injustice and gender discrimination."[30][31] According to the Omisión e Indiferencia: Derechos reproductivos en México (Omission and Indifference: Reproductive Rights in Mexico) presented by GIRE, only women with economic resources and information can travel to Mexico City to have an abortion "without the risk of being persecuted for committing a crime or do it in precarious conditions."[30][31][32] Although there are no official figures on clandestine abortions in the country, GIRE estimated that in 2009 159,000 women rushed to a hospital for complications of unsafe and illegal abortions.[30][31][32]
In addition, restrictive abortion policies not only limit women's individual agency and autonomy, but force poor women to choose between an unsafe illegal medical procedure, and bearing unwanted children.[16] Thus, such policies create structural social and economic inequality.[16]
#### Impact on health and the economy[edit]
Research done by Maria Sanchez Fuentes et al. concludes that the health and economic costs of unsafe abortion are very high, in common with other preventable illnesses.[16] Moreover, those costs are higher for poor women, because only women with economic means and sufficient information can access abortion under safe medical conditions in Mexico, or travel to foreign countries where abortion is legal throughout.[16] After the amendments to the abortion law in 2007, abortion services are now free of charge in public hospitals for Mexico City residents, which account for approximately one quarter of the country's population, and available for a moderate fee for women from other states or countries.[16]
Before the passage of the amendments to the abortion law, many Mexican women would buy herbs from the market and try dangerous home versions of abortion in order to end their unwanted pregnancies [33] Women also resorted to buying prescription drugs, obtained from pharmacists without a doctor's signature, that would induce an abortion.[33] Moreover, some women even ingested huge doses of drugs for arthritis and gastritis, available over the counter, which can cause miscarriages.[33] All of these methods are significantly dangerous, and most are illegal.
The fifth leading cause of maternal mortality in Mexico is illegal, unsafe abortion.[16][34] A huge proportion of poor and young women are forced to risk their health and lives in the conditions under which many clandestine abortions are practiced.[16] This highlights the costs of unsafe abortion to the public-health system.[16] In addition, women who undergo unsafe abortions and suffer complications or death represent the fourth highest cause of hospital admissions in Mexico's public hospitals.[16] The Ministry of Health statistics show that in Mexico City, maternal mortality has been reduced significantly since the passage of the new law.[33]
During 2008, the public health sector, under Mexico City's Ministry of Health, carried out 13,057 legal abortions, compared to 66 abortions between 2002 and 2007, when the legal indications were restricted to the four circumstances of rape, danger to the woman's life and health and congenital malformations.[35] At the end of April 2007, the city's Ministry of Health started providing first trimester abortions free of charge to the estimated 43 percent of women residing in Mexico City with no public health insurance.[35]
## Demographics and public opinion[edit]
See also: Societal attitudes towards abortion
A 2008 study funded by the National Population Council (CONAPO), El Colegio de México and the Guttmacher Institute estimated 880,000 abortions carried out annually, with an average of 33 abortions a year for every 1,000 women between the ages of 15 and 44.[36] However, such studies are speculative —as abortion is highly restricted and reliable data is not readily available— with some estimates ranging as low as 297,000 abortions per year.[37]
By January 19, 2011, 52,484 abortions have been carried out in Mexico City since its decriminalization in 2007,[3] where some 85 percent of the gynecologists in the city's public hospitals have declared themselves conscientious objectors.[38] Among the petitioners, 78% were local residents, 21% were living out-of-state and 1% were foreigners from countries such as Germany, Argentina and Canada.[3] As for their age, 0.6% were between 11 and 14, 47.6% were between 18 and 24, 22% between 25 and 29, 13% between 30 and 34 and 2.7% between 40 and 44 years old. More than half were single.[3]
As of April 2012, roughly 78,544 women had undergone free legal terminations of pregnancy (LTP) without major complications – an average of 15,709 per year since the law passed in 2007.[30][39] According to the United Nations, more than 500,000 Mexican women seek illegal abortions every year, with more than 2,000 dying from botched or unsafe procedures.[17][40]
### Political community[edit]
In the presidential election of 2006, a conservative candidate from the PAN won the election by an "infinitesimal percentage, and the progressive PRD candidate claimed fraud."[16] An article by Sanchez Fuentes et al., suggested that this caused polarization between the two parties and within Mexican society in general.[16] Since the PRD lost the presidential election, but maintained control of the local legislature and Mayor's Office in Mexico City, they demonstrated the differences between the left- and right-wing parties in the reproductive-rights context by supporting the change in the law.[16]
In 2007, the legal proposal to decriminalize abortion, led by the PRI, was introduced in the Mexico City Legislative Assembly (LAFD).[33] In this Mexico City abortion reform, "the policy community (including the center-left political parties; the Mexico City government, represented by the Mayor's Office; the local Ministry of Health; and the local Human Rights Ombudsman), along with academics, opinion leaders, and leading scientists, was very much united, and vocal in support of decriminalization".[16] Mexico City's then-mayor Marcelo Ebrard, from the PRD, declared, "This is a women's cause, but it is also the city's cause."[16] Manifestations of support for the bill came in the form of public announcements by public figures, printed in national newspapers, which are a key means of influencing public opinion and debate in Mexico, as well as via press declarations, and interviews, as suggested by.[16] A public announcement published on April 17, 2007, by the Academy of Bioethics, which outlined why the decriminalization of up to 12 weeks was not contradictory to scientific evidence, affirmed that, "an embryo at this stage has not developed a cerebral cortex or nerve endings, does not feel pain, and is not a human being or person".[16] Sanchez Fuentes et al. concluded that this bioethics perspective influenced the discourse surrounding the debate.[16]
On December 31, 2020, President Andrés Manuel López Obrador ( MRN) proposed that the government sponsor a consultation among the nation's women regarding the legalization of abortion.[41]
### Anti-abortion movement by the Catholic Church[edit]
Knowing the potential involvement of the Catholic church on this reform, LAFD pitched the debate as a necessary protection for women-particularly poor women.[17] This justification was meant to resonate especially with the largely Catholic population, religious interest groups, and the Catholic healthcare professionals.[17] While public opinion in Mexico City is largely in favor of legal abortion, the negotiation with religious as well as conscientiously objecting doctors and nurses was proven difficult.[17][42] Their religious faith had a major impact on the negotiation, because of Catholic's view on abortion as a sin.
The anti-abortion movement in Mexico has been led by the Catholic Church.[17] The Church remains influential in Mexico, and in any discussion of abortion, the government must discuss the reactions and policies of the Church.[17] It is also the Church's influence that has guided the debate towards a health rationale rather than a choice rationale – staying away from a pro-choice stance.[17] After the law was passed in April 2007, the Catholic Church collected 70,000 signatures supporting an abortion referendum.[33]
Under Articles 6 and 24, the Mexican constitution protects citizens with freedom of religion in Mexico.[17] During the first few weeks after the law passed in 2007, many doctors and nurses did not partake in abortions due to their faith.[17][43][44] The LAFD dealt with the Church's influence on public hospitals and their employees by reinforcing the reforms made in the Robles law (the law permitting abortion to be legal in Federal District (Mexico) and requiring, in Article 14 Bis 6 of the Health Law, that once again hospitals must have non-objecting doctors on call for abortions).[17] The Robles Law uses language that makes it clear that the right to object on religious grounds is not absolute and that the woman's right to receive the abortion trumps the doctor's right to object where no non-objecting doctor can be located.[17] Furthermore, Article 14 Bis 3 established the Clinical Commission for Evaluation to ensure that doctors were performing abortions and that every time a woman requests information about an abortion, it is recorded by an independent, centralized body of the government.[17] Former Secretary of Health, Manuel Mondragon, under the Mayor of Mexico City, Marcelo Ebrard, worked to make sure that abortions were readily available to women who sought them under the legal circumstances.[17] Essentially, the law incorporates a conscientious objection exemption for health care providers, and similarly requires that hospitals then provide a woman with an alternate provider, who will perform the abortion.[17][43] Furthermore, the separation of church and state is enshrined in the Mexican Reform Laws of 1859.[16] Therefore, the attempt by the Church to influence politics was illegal, and their threat of excommunication was invalid.[16] The major separation of the church and state did not permit for religious reasoning to be the major influence on policies, but the Catholic church threatened to prohibit the individuals supporting the policy from attending any religious sanctions and ceremonies.
According to Sanchez Fuentes et al., more than 80 percent of the women who have sought services are Catholic, and formally educated, claiming to help destigmatize abortion, influencing public opinion.[16]
### Recent surveys[edit]
* In a May 2005 Consulta Mitofsky survey, when asked, "Would you agree or disagree with the legalization of abortion in Mexico?", 51% of polltakers said that they would disagree, 47.9% said that they would agree, and 1.1% said that they were unsure.[45]
* A November 2005 IMO survey found that 73.4% of Mexicans think abortion should not be legalized, while 11.2% think it should.[46]
* A January 2007 Consulta Mitofsky poll examined attitudes toward birth control methods in Mexico, asking, "Currently, there are many methods meant to prevent or terminate a pregnancy. In general, do you agree with the following methods?" 32.1% of respondents stated that they agreed with abortion.[47]
* A March 2007 Parametría survey compared the opinions of people living in Mexico City with those living throughout the rest of the country, asking, "Do you agree or disagree with allowing women to have an abortion without being penalized, if the procedure takes place within the first 14 weeks of a pregnancy?" In Mexico City, 44% said they "agree", 38% that they "disagree", 14% that they "neither" agree nor disagree, and 3% that they are "not sure". Throughout the rest of Mexico, 58% of those surveyed said that they "disagree", 23% that they "agree", 15% that they "neither" agree nor disagree, and 4% that they are "not sure".[48]
## See also[edit]
* Mexico City Policy
* Law of Mexico
* Verónica Cruz Sánchez
## References[edit]
1. ^ "Mexico's Oaxaca state legalizes abortion in historic move". jpost.com. The Jerusalem Post. 2019-09-26. Retrieved 2019-09-30.
2. ^ Agren, David (2019-09-26). "'We have made history': Mexico's Oaxaca state decriminalises abortion". theguardian.com. The Guardian. Retrieved 2019-09-30.
3. ^ a b c d Gómez, Natalia (6 February 2011). "Realizan abortos legales sin regulación". El Universal (in Spanish). Mexico City. Retrieved 6 February 2011.
4. ^ a b Gaestel, Allyn; Shelley, Allison (1 October 2014). "Mexican women pay high price for country's rigid abortion laws". The Guardian. Retrieved 31 July 2016.
5. ^ "Se han interrumpido legalmente 138 mil embarazos en ocho años". Excélsior (in Spanish). Notimex. 23 April 2015. Retrieved 31 July 2016.
6. ^ Malkin, Elisabeth (22 September 2010). "Many States in Mexico Crack Down on Abortion". The New York Times. Retrieved 6 February 2011.
7. ^ a b Jelen, Ted G.; Jonathan Doc Bradley (2012). "Abortion Opinion in Emerging Democracies: Latin America and Central Europe" (PDF). Archived from the original (PDF) on 17 March 2014. Retrieved 15 March 2014.
8. ^ Hassmann, Melissa (2005). Abortion Politics in North America. Boulder, CO: Lynne Rienner Publishing, Inc.
9. ^ department of Economic and Social Affairs of the United Nations Secretariat, Policy Data Bank. "UN Report-Mexico". Retrieved 15 March 2014.
10. ^ a b c d e Juarez, F (2013). Unintended Pregnancy and Induced Abortion in Mexico: Causes and Consequences (PDF). New York: Guttmacher Institute.
11. ^ Gobierno de los Estados Unidos Mexicanos. "Constitución Política de los Estados Unidos Mexicanos, Capítulo I de los Derechos Humanos y sus Garantías, Artículo 4" (in Spanish). Archived from the original on March 17, 2014. Retrieved March 15, 2014.
12. ^ Cad. “Mexico: State Loosens Abortion Law.” Off Our Backs, vol. 21, no. 3, 1991, pp. 11–11. JSTOR, www.jstor.org/stable/20833453 accessed 21 March 2019
13. ^ Fuentes, M Urbina (2005). Política de población y los programas de planificación familiar, en: Valdés L ed., La ley de población a treinta años de distancia: reflexiones, análisis y propuestas (in Spanish). Mexico City: UNAM. pp. 339–353.
14. ^ "An Overview of Clandestine Abortion in Latin America". Guttmacher Institute. December 1996. Archived from the original on 2014-03-17. Retrieved 12 March 2014.
15. ^ "Fact Sheet: Unintended Pregnancy and Induced Abortion In Mexico". Guttmacher Institute. Retrieved 15 March 2014.
16. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag Sanchez Fuentes, Maria Luisa; Jennifer Paine; Brook Elliott-Buettner (July 2008). "The Decriminalisation of Abortion in Mexico City: How Did Abortion Rights Become a Political Priority?". Gender and Development. 16 (2): 345–360. doi:10.1080/13552070802120533. JSTOR 20461278. S2CID 146457306.
17. ^ a b c d e f g h i j k l m n o Johnson, Thea B. (2013). "GUARANTEED ACCESS TO SAFE AND LEGAL ABORTIONS: THE TRUE REVOLUTION OF MEXICO CITY'S LEGAL REFORMS REGARDING ABORTION" (PDF). Columbia Human Rights Law Review. 2. 44 (437). Retrieved 16 March 2014.
18. ^ Miller Llana, Sara (2008-08-28). "Mexico's Supreme Court upholds abortion law". Christian Science Monitor. Mexico City. Retrieved 2009-10-17.
19. ^ a b "State Legislation". Grupo de Información en Reproducción Elegida, A.C. 2012. Archived from the original on 2014-02-27. Retrieved 2012-07-24.
20. ^ a b Tuckman, Jo (2008-08-29). "Judges uphold abortion rights in Mexico City". The Guardian. Retrieved 2009-10-17.
21. ^ "Population of Mexico City as a percentage of the national population of Mexico". Wolfram Alpha. 2007. Retrieved 2009-10-17.
22. ^ a b Ellingwood, Ken (2008-08-29). "Mexican Supreme Court upholds legalized abortion law". Los Angeles Times. Mexico City. Retrieved 2009-10-18.
23. ^ "Temen se extienda prohibición al aborto en el país". El Financiero en línea (in Spanish). Mexico City. 2009-10-13. Archived from the original on 2018-10-02. Retrieved 2009-10-19.
24. ^ "Mexico: Stop Blocking Abortions for Rape Victims". New York: Human Rights Watch. 2009-03-05. Retrieved 2009-10-19.
25. ^ Lysakowska, Anna (2014). "The Politics of Abortion in Mexico: A study based on the examples of the states of Distrito Federal and Guanajuato". ISBN 978-3659527661.
26. ^ "La legalidad del aborto en México a discusión en la Suprema Corte". CNN. 2011. Retrieved 16 March 2014.
27. ^ "México: La Corte Suprema de Justicia avala aborto por violación" [Mexico: Supreme Court approves abortion in cases of rape]. CNN Espanol (in Spanish). August 7, 2019. Retrieved August 9, 2019.
28. ^ "Congreso de Oaxaca aprueba despenalizar el aborto" [Congress of Oaxaca decriminalizes abortion], Milenio (in Spanish), Sep 25, 2019, retrieved Oct 5, 2019
29. ^ Gabriela Hernandez (Oct 5, 2019), "Legisladores poblanos cierran paso a la despenalización del aborto y al matrimonio igualitario" [Puebla legislators close path to decriminalization of abortion and legalization of equal marriage], Proceso (in Spanish)
30. ^ a b c d e Grupo de Información en Reproducción Elegida. "Cifras del aborto en México". Archived from the original on 17 March 2014. Retrieved 15 March 2014.
31. ^ a b c d Montalvo, Tania (24 April 2013). "Una de cada 3 mujeres que interrumpe su embarazo en el DF es ama de casa". CNN: Mexico. Retrieved 16 March 2014.
32. ^ a b Grupo de Informacion en Reproduccion Elegida. "Aborto: Capitulo Uno" (PDF). GIRE. Archived from the original (PDF) on 17 March 2014. Retrieved 15 March 2014.
33. ^ a b c d e f Ford, Allison (2010). "MEXICO CITY LEGALIZES ABORTION". Law and Business Review of the Americas. 16 (1): 119–127. Retrieved 30 March 2014.
34. ^ Wilson, Kate S.; Sandra G. Garcia; Cudia Diaz Olvarrieta; Aremic Villalobos-Hernandez; Jorge Valencia Rodriguez; Patricio Sanhueza Smith; Courtney Burks (September 2011). "Public Opinion on Abortion in Mexico City after the Landmark Reform". Studies in Family Planning. 42 (3): 175–182. doi:10.1111/j.1728-4465.2011.00279.x. JSTOR 41310727. PMID 21972670.
35. ^ a b Schiavon, Rafael; Maria E. Collado; Erika Troncoso; Jose E. Soto Sanchez; Gabriela Otero Zorrilla; Tia Palermo (November 2010). "Characteristics of private abortion services in Mexico City after legalization". Reproductive Health Matters. 18 (36): 127–135. doi:10.1016/S0968-8080(10)36530-X. JSTOR 25767368. PMID 21111357. S2CID 15771389.
36. ^ Cevallos, Diego (2009-05-22). "Avalanche of Anti-Abortion Laws". Inter Press Service. Archived from the original on 2009-07-26. Retrieved 2009-10-18.
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38. ^ Malkin, Elisabeth; Cattan, Nacha (24 August 2008). "Mexico City Struggles With Law on Abortion". The New York Times. p. A5. Retrieved 6 February 2011.
39. ^ Amuchástegui, Ana (2013). "Body and embodiment in the experience of abortion for Mexican women: the sexual body, the fertile body, and the body of abortion". Gender, Sexuality & Feminism. 1 (1). doi:10.3998/gsf.12220332.0001.101.
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41. ^ "Women should decide whether to legalize abortion, Mexican president says". Reuters. 31 December 2020. Retrieved January 1, 2021.
42. ^ Wilson, Kate S.; García SG; Díaz Olavarrieta C; Villalobos-Hernández A; Rodríguez JV; Smith PS; Burks C. (September 2011). "Public opinion on abortion in Mexico City after the landmark reform". Studies in Family Planning. 42 (3): 175–182. doi:10.1111/j.1728-4465.2011.00279.x. PMID 21972670.
43. ^ a b ELISABETH MALKIN; NACHA CATTAN (24 August 2008). "Mexico City Struggles With Law on Abortion". New York Times. Retrieved 15 March 2014.
44. ^ Tobar, Hector (3 November 2007). "In Mexico, abortion is out from shadows". Los Angeles Times. Retrieved 15 March 2014.
45. ^ "Mexico Deeply Divided on Social Issues Archived June 21, 2007, at the Wayback Machine." (July 5, 2005). Angus Reid Global Monitor. Retrieved June 20, 2007.
46. ^ "Mexicans Support Status Quo on Social Issues Archived December 19, 2006, at the Wayback Machine." (December 1, 2005). Angus Reid Global Monitor. Retrieved January 10, 2006.
47. ^ "Mexicans Support Birth Control, Not Abortion Archived March 31, 2007, at the Wayback Machine." (March 28, 2007). Angus Reid Global Monitor. Retrieved June 20, 2007.
48. ^ "Urban-Rural Abortion Divide Evident in Mexico Archived June 23, 2007, at the Wayback Machine." (April 15, 2007). Angus Reid Global Monitor. Retrieved June 20, 2007.
* v
* t
* e
Abortion in North America
Sovereign states
* Antigua and Barbuda
* Bahamas
* Barbados
* Belize
* Canada
* Costa Rica
* Cuba
* Dominica
* Dominican Republic
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Dependencies and
other territories
* Anguilla
* Aruba
* Bermuda
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* British Virgin Islands
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* Guadeloupe
* Martinique
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* Saint Barthélemy
* Saint Martin
* Saint Pierre and Miquelon
* Saba
* Sint Eustatius
* Sint Maarten
* Turks and Caicos Islands
* United States Virgin Islands
* v
* t
* e
Abortion
Main topics
* Definitions
* History
* Methods
* Abortion debate
* Philosophical aspects
* Abortion law
Movements
* Abortion-rights movements
* Anti-abortion movements
Issues
* Abortion and mental health
* Beginning of human personhood
* Beginning of pregnancy controversy
* Abortion-breast cancer hypothesis
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* Abortion under communism
* Birth control
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* Ethical aspects of abortion
* Eugenics
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* Genetics and abortion
* Late-term abortion
* Legalized abortion and crime effect
* Libertarian perspectives on abortion
* Limit of viability
* Malthusianism
* Men's rights
* Minors and abortion
* Natalism
* One-child policy
* Paternal rights and abortion
* Prenatal development
* Reproductive rights
* Self-induced abortion
* Sex-selective abortion
* Sidewalk counseling
* Societal attitudes towards abortion
* Socialism
* Toxic abortion
* Unsafe abortion
* Women's rights
By country
Africa
* Algeria
* Angola
* Benin
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North America
* Belize
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Oceania
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South America
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Law
* Case law
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Methods
* Vacuum aspiration
* Dilation and evacuation
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* Intact D&X
* Hysterotomy
* Instillation
* Menstrual extraction
* Abortifacient drugs
* Methotrexate
* Mifepristone
* Misoprostol
* Oxytocin
* Self-induced abortion
* Unsafe abortion
Religion
* Buddhism
* Christianity
* Catholicism
* Hinduism
* Islam
* Judaism
* Scientology
* Category
*[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
|
Abortion in Mexico
|
None
| 28,385 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Mexico
| 2021-01-18T18:33:53 |
{"wikidata": ["Q4668478"]}
|
Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follow an autosomal dominant pattern of inheritance.
*[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
|
Hypertrichosis lanuginosa congenita
|
c0235864
| 28,386 |
gard
|
https://rarediseases.info.nih.gov/diseases/2865/hypertrichosis-lanuginosa-congenita
| 2021-01-18T17:59:54 |
{"mesh": ["C538389"], "omim": ["145700"], "orphanet": ["2222"], "synonyms": ["Hypertrichosis universalis", "Congenital hypertrichosis lanuginosa", "CHL", "Hypertrichosis lanuginosa universalis"]}
|
Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures.
*[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
|
Hailey-Hailey disease
|
c0085106
| 28,387 |
gard
|
https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease
| 2021-01-18T18:00:11 |
{"mesh": ["D016506"], "omim": ["169600"], "umls": ["C0085106"], "orphanet": ["2841"], "synonyms": ["Benign familial pemphigus", "Benign chronic pemphigus", "Familial benign pemphigus", "BCPM"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to Parkinson disease-11 (PARK11) is conferred by heterozygous mutation in the GIGYF2 gene (612003) on chromosome 2q37.
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Mapping
Pankratz et al. (2002) reported linkage to 2q in a sample of sib pairs with Parkinson disease. Pankratz et al. (2003) expanded the sample to include 150 families meeting their strictest diagnostic definition of verified Parkinson disease. To delineate further the chromosome 2q linkage, they performed analyses using only those pedigrees with the strongest family history of PD. Linkage analyses in this subset of 65 pedigrees generated a lod score of 5.1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggested that variation in a gene on 2q36-q37 contributes to PD susceptibility.
Pankratz et al. (2002) and Pankratz et al. (2003) showed that evidence for a chromosome 2q36-q37 PD susceptibility gene was primarily due to families with verified PD that had a strong family history of PD, defined as at least 4 affected family members or an affected sib pair with an affected parent. In their expanded sample of 362 families, Pankratz et al. (2003) identified 85 families meeting these criteria. A genome screen performed in these 85 families continued to provide strong evidence of linkage to chromosome 2q (lod = 4.9).
In 45 European families with a strong family history of PD, Prestel et al. (2005) did not obtain a significant lod score in the region of 2q36-q37 that had been demonstrated by Pankratz et al. (2002) in a North American population.
Maraganore et al. (2005) performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. One of the SNPs studied tagged the PARK11 late-onset PD susceptibility locus (p = 1.70 x 10(-5)).
Molecular Genetics
In affected members of 12 unrelated Italian or French families with PD, Lautier et al. (2008) identified 7 different heterozygous mutations in the GIGYF2 gene (see, e.g., 612003.0001-612003.0004). Inheritance was autosomal dominant with evidence of incomplete penetrance. Clinical features were similar to that of idiopathic PD.
Bras et al. (2009) sequenced the entire coding region of GIGYF2 in a series of 267 Portuguese and 460 North American PD samples. The authors found 3 previously published mutations, including N457T (612003.0002), among neurologically normal control individuals. The authors suggested that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations.
Nichols et al. (2009) did not identify 5 of the 7 GIGYF2 variants reported by Lautier et al. (2008) among 96 probands with PD linked to chromosome 2q or in an extended sample of 566 multiplex PD families. One variant (N56S; 612003.0001) was found in 2 families and showed incomplete penetrance. Another variant (N457T; 612003.0002) was demonstrated not to segregate with the disorder in 1 family, raising doubts about its pathogenicity. Nichols et al. (2009) concluded that there was no consistent evidence that variation in the GIGYF2 gene contributes significantly to PD, and suggested that variation in another gene at this locus accounts for the disorder.
Zimprich et al. (2009) identified the N56S variant in 1 of 669 PD patients and in 1 of 1,051 control individuals. The patient with PD had an affected sister, who did not carry the N56S variant. In addition, the N457T variant was found in 1 patient of Egyptian origin and in 3 controls of European origin, but not in 50 Egyptian controls. The authors concluded that neither variant plays a major role in the pathogenesis of PD.
Tan et al. (2009) identified 4 different heterozygous mutations in the GIGYF2 gene (see, e.g., K421R; 612003.0005) in 7 (1.6%) of 450 patients with Parkinson disease from Taiwan and Singapore. The mutations were not identified in 400 controls. One patient had a positive family history, but the family was too small for segregation analysis. All patients had typical features of PD, with a mean age of onset ranging from 39 to 67 years. None of the mutations reported by Lautier et al. (2008) were found. Tan et al. (2009) emphasized that their results should be interpreted with caution, and that replication studies should be performed to establish conclusively if the variants are indeed pathogenic.
Animal Model
Giovannone et al. (2009) reported that Gigyf2 -/- mice underwent apparently normal embryonic development, but died within the first 2 postnatal days. Gigyf2 +/- mice survived to adulthood with no evident metabolic or growth defects. At 12-15 months of age, the Gigyf2 +/- mice began to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This was associated with histopathologic evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There were alpha-synuclein (SNCA; 163890)-positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 -/- mice exhibited decreased IGF-I (IGF1; 147440)-stimulated receptor tyrosine phosphorylation and augmented ERK1/2 (see 601795) phosphorylation. Giovannone et al. (2009) proposed an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.
*[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
|
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
c4083045
| 28,388 |
omim
|
https://www.omim.org/entry/607688
| 2019-09-22T16:08:47 |
{"omim": ["607688"], "orphanet": ["411602"], "synonyms": ["Autosomal dominant late-onset Parkinson disease", "LOPD"]}
|
A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.
*[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 cystic eye
|
None
| 28,389 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519384
| 2021-01-23T17:11:06 |
{"synonyms": ["Congenital anophthalmos with cyst"]}
|
Okamoto et al. (1986) reported a family in which 6 persons in 3 generations had exceedingly high insulin (INS; 176730) binding to their erythrocytes (3- to 4-fold increase over the normal). Scatchard analysis showed that in each patient the increased insulin binding was due to increased binding capacity with little change in affinity. The pattern of inheritance was considered to be autosomal dominant although there was no instance of male-to-male transmission. Mononuclear leukocytes and erythrocyte ghosts also had high insulin binding. In contrast, the number of ouabain-binding sites and the kinetics of sugar transport were normal. The propositus was a 68-year-old man who had been recruited for a project to determine the normal range of insulin binding to erythrocytes. He was clinically normal and had no family or past history of either diabetes or hypoglycemia. There was no evidence of reduced red cell life span or a tendency to hemolysis; specifically, reticulocyte counts were normal. The latter feature was commented on because increased insulin binding had been reported in patients with hemolytic anemia. The authors referred to this as a 'familial disorder,' but in light of the clinical abnormality, it is difficult to justify calling this a disorder rather than a normal variation. Insulin tolerance tests and the euglycemic clamp study suggested that overall in vivo insulin sensitivity was normal in the propositus. Normal insulin sensitivity in the presence of very high insulin binding may indicate some post-binding peculiarity in the cells of the propositus. Indeed, the increased number of insulin receptors may be a secondary response to a variation at the post-receptor level.
Misc \- Clinically normal Lab \- Increased insulin binding capacity \- Increased number of insulin receptors Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
INSULIN RECEPTORS, FAMILIAL INCREASE IN
|
c1840226
| 28,390 |
omim
|
https://www.omim.org/entry/147320
| 2019-09-22T16:39:33 |
{"omim": ["147320"]}
|
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
In a genomewide search of 158 Canadian sib-pair families segregating Crohn disease, Rioux et al. (2000) identified 3 regions of suggestive linkage (3p, 5q31-q33, and 6p) and 1 region of significant linkage to 19p13. Higher-density mapping in the 5q31-q33 region revealed a locus of genomewide significance (lod score = 3.9) that contributed to Crohn disease susceptibility in families with early-onset disease. In a follow-up study using the linkage disequilibrium (LD) approach, Rioux et al. (2001) studied 256 father-mother-child trios in which the child had Crohn disease and at least 1 parent was unaffected. They found strong evidence of LD in the 5q31 region. They bound the region to a common haplotype spanning 250 kb. This region contains a number of immunoregulatory cytokines which the authors suggested might be important in the pathophysiology of Crohn disease: IL4 (147780), IL5 (147850), and IL13 (147683). Furthermore, individuals with Crohn disease have increased expression of IRF1 (147575) and increased enzymatic activity of P4HA2 (600608). In this study using an ultra-high density single-nucleotide polymorphism (SNP) map, it was impossible to narrow further the identity of the particular SNP related to Crohn disease.
Lo and Zheng (2004) applied the backward haplotype transmission association (BHTA) algorithm to the analysis of the genome-scan data of Rioux et al. (2000) and showed that the method has increased efficiency in the use of available data and can lead to novel and surprising results.
Mirza et al. (2003) replicated the finding of Rioux et al. (2001) by both the transmission disequilibrium test (TDT) and in a case-control association study in a large European cohort of patients with Crohn disease, although the increase in disease risk was small (odds ratio 1.49 for homozygotes). No association was detected in families or individuals with ulcerative colitis. Stratification of offspring with Crohn disease in the TDT sample by mutation status in the Crohn disease susceptibility gene NOD2/CARD15 (605956; see IBD1, 266600) showed that the association with the 5q31 risk haplotype was present only in offspring with at least 1 of the known CARD15 disease susceptibility alleles (P = 0.044). The 5q31 risk haplotype frequency was 53.1% in unrelated individuals with Crohn disease who had 1 or 2 CARD15 mutations versus 43.7% in control subjects (P = 0.0001), but was not significantly elevated in individuals with Crohn disease who had no CARD15 mutations. Kaplan-Meier survival analysis of age at disease onset showed a significantly earlier onset in homozygotes for the 5q31 risk haplotype (P = 0.0019). These findings suggested that genetic variants at the 5q31 locus may hasten the onset of Crohn disease and cooperate with CARD15 in disease causation.
Giallourakis et al. (2003) analyzed the IBD5 locus in 187 German ulcerative colitis trios and found significant association between the IBD5 risk haplotype-tagging SNP IGR2096a_1 and UC (p = 0.002). Examination of locus-locus interactions between IBD5 and CARD15 indicated that the 2 loci act independently to confer risk to Crohn disease, but that these 2 loci may behave in an epistatic fashion to promote the development of UC. The authors suggested that IBD5 may act as a general risk factor for IBD, with loci such as CARD15 modifying the clinical characteristics of disease.
Van Heel et al. (2003) performed a genomewide scan of 137 Crohn disease affected relative pairs from 112 families. Evidence for linkage to chromosome 19 (IBD6; 606674) was observed in Crohn disease pairs not possessing CARD15 mutations (p = 0.0001), and in pairs possessing 1 or 2 copies of the IBD5 risk haplotype (p = 0.0005), with significant evidence for genetic heterogeneity and epistasis, respectively. These analyses demonstrated the complex genetic basis to Crohn disease.
McGovern et al. (2003) analyzed 3 common CARD15 variants and the IBD5 risk haplotype-tagging SNP IGR2096a_1 in 278 UC patients and 232 healthy controls and found significant association between the 702W CARD15 variant (605956.0003) and IBD5 heterozygotes (p = 0.019); the association was even more significant in IBD5 'risk' homozygotes (p = 0.004). The authors concluded that there is an IBD5/CARD15 epistatic relationship in susceptibility to UC, although the overall population effect is relatively small (population attributable risk, 0.06 for IBD5 'risk' homozygotes).
The Wellcome Trust Case Control Consortium (2007) described a joint genomewide association study, using the Affymetrix GeneChip 500K Mapping Array Set undertaken in the British population, which examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls. The authors found association between Crohn disease and rs6596075 (p = 5.4 x 10(-7)), representing the risk haplotype on 5q31 identified by Rioux et al. (2001).
In a metaanalysis of data from 3 studies of Crohn disease involving a total of 3,230 cases and 4,829 controls (Rioux et al., 2007, the Wellcome Trust Case Control Consortium, 2007, and Libioulle et al., 2007) with replication in 3,664 independent cases, Barrett et al. (2008) identified significant association with rs2188962 on 5q31 (combined p = 2.32 x 10(-18); case-control odds ratio, 1.25).
### Association with SLC22A4 and SLC22A5
Peltekova et al. (2004) reported that 2 variants in the organic cation transport cluster at 5q31 form a haplotype associated with susceptibility to Crohn disease; these 2 variants were a 1672C-T transition (L503F) in SLC22A4 (604190) and a -207G-C transversion in the SLC22A5 promoter (603377), These variants altered transcription and transporter functions of the organic cation transporters and interacted with variants in another gene associated with Crohn disease, NOD2/CARD15 (605956), on chromosome 16. These results suggested that SLC22A4, SLC22A5, and CARD15 act in a common pathogenic pathway to cause Crohn disease. The 2-allele risk haplotype, referred to as TC for the nucleotides involved in Crohn disease risk, was found by Peltekova et al. (2004) to be in strong linkage disequilibrium and was strongly associated with Crohn disease but not with ulcerative colitis.
Noble et al. (2005) analyzed the IBD5 locus in 679 Scottish IBD patients, 374 with CD and 305 with UC. They found no association with UC, and noted that in the absence of the IBD5 risk haplotype, no association of OCTN1/2 variants with CD was detected. The authors concluded that the contribution of OCTN1/2 variants was not independent of the IBD5 haplotype, although a causative role for those genes remained plausible.
Fisher et al. (2006) genotyped the SLC22A4 and SLC22A5 variants and other polymorphisms across the risk haplotype in 4 populations of European origin by analytic methods. They found highly significant association of SNPs at the IBD5 locus with Crohn disease in all populations tested. However, the frequencies of the specific variants in the SLC22A4 and SLC22A5 genes in individuals who did not carry the general IBD5 risk haplotype were not significantly different in cases and controls. This and other aspects of the analysis suggested that the molecular basis for Crohn disease susceptibility at the IBD5 locus remained to be defined.
In a case-control study of 309 Spanish patients with Crohn disease and 408 controls, Martinez et al. (2006) found conflicting evidence for the role of the SLC22A4 1672C-T and the SLC22A5 -207G-C polymorphisms. Separate analysis for each variant showed no disease association, whereas a combination of the 2 variants showed mildly increased disease risk. The authors suggested that certain haplotypes in defined populations may confer susceptibility or protection to Crohn disease.
Silverberg et al. (2007) evaluated 1,879 affected offspring and parents ascertained by a North American IBD Genetics Consortium for 6 IDB5 SNPs and confirmed association to the IBD5 region on chromosome 5q31 (p less than 0.0005 for rs12521868). They also showed this association to be exclusive to the non-Jewish population (p = 0.00005), with undertransmission of the risk allele in Ashkenazi Jews. Using Phase II HapMap data, the authors identified a set of polymorphisms spanning genes from P4HA2 to IRF1 with equivalent statistical evidence of association to the reported SLC22A4 variant, each of which, by itself, could entirely explain the IBD5 association to Crohn disease. In addition, the previously reported SLC22A5 SNP was rejected as the potential causative variant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
INFLAMMATORY BOWEL DISEASE 5
|
c1853438
| 28,391 |
omim
|
https://www.omim.org/entry/606348
| 2019-09-22T16:10:29 |
{"mesh": ["C565234"], "omim": ["606348"]}
|
Type of cerebral palsy associated with basal ganglia damage
Not to be confused with Athetosis.
Dyskinetic cerebral palsy
Other namesDyskinetic cerebral palsy
The basal ganglia are instrumental in motor function. Damage to these areas may results in athetoid/ dyskinetic cerebral palsy (ADCP), or subtle movement disorders.
SpecialtyNeurology
Athetoid cerebral palsy, or dyskinetic cerebral palsy (sometimes abbreviated ADCP), is a type of cerebral palsy primarily associated with damage, like other forms of CP, to the basal ganglia in the form of lesions that occur during brain development due to bilirubin encephalopathy and hypoxic–ischemic brain injury.[1] Unlike spastic or ataxic cerebral palsies, ADCP is characterized by both hypertonia and hypotonia, due to the affected individual's inability to control muscle tone.[2] Clinical diagnosis of ADCP typically occurs within 18 months of birth and is primarily based upon motor function and neuroimaging techniques.[3][4] While there are no cures for ADCP, some drug therapies as well as speech, occupational therapy, and physical therapy have shown capacity for treating the symptoms.
Classification of cerebral palsy can be based on severity, topographic distribution, or motor function. Severity is typically assessed via the Gross Motor Function Classification System (GMFCS) or the International Classification of Functioning, Disability and Health (described further below).[2] Classification based on motor characteristics classifies CP as occurring from damage to either the corticospinal pathway or extrapyramidal regions.[5] Athetoid dyskinetic cerebral palsy is a non-spastic, extrapyramidal form of cerebral palsy (spastic cerebral palsy, in contrast, results from damage to the brain's corticospinal pathways).[5] Non-spastic cerebral palsy is divided into two groups, ataxic and dyskinetic.[2] Dyskinetic cerebral palsy is separated further into two different groups; choreoathetoid and dystonic.[2] Choreo-athetotic CP is characterized by involuntary movements most predominantly found in the face and extremities.[6] Dystonic ADCP is characterized by slow, strong contractions, which may occur locally or encompass the whole body.[6]
Clinically, physicians have also classified cerebral palsy according to the topographic distribution of muscle spasticity.[6] This method classifies children as diplegic, (bilateral involvement with leg involvement greater than arm involvement), hemiplegic (unilateral involvement), or quadriplegic (bilateral involvement with arm involvement equal to or greater than leg involvement).[2][6]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Hypoxic-ischemic brain injury
* 2.2 Bilirubin encephalopathy
* 3 Diagnosis
* 3.1 Motor function
* 3.2 Neuroimaging
* 4 Treatment
* 4.1 Physical and occupational therapy
* 4.2 Speech therapy
* 4.3 Drug therapy
* 4.4 Deep brain stimulation
* 5 Prognosis
* 6 References
* 7 External links
## Signs and symptoms[edit]
ADCP is often characterized by slow, uncontrolled movements of the extremities and trunk.[3] Small, rapid, random and repetitive, uncontrolled movements known as chorea may also occur.[1] Involuntary movements often increase during periods of emotional stress or excitement and disappear when the patient is sleeping or distracted.[1] Patients experience difficulty in maintaining posture and balance when sitting, standing, and walking due to these involuntary movements and fluctuations in muscle tone.[3] Coordinated activities such as reaching and grasping may also be challenging.[3] Muscles of the face and tongue can be affected, causing involuntary facial grimaces, expressions, and drooling.[3] Speech and language disorders, known as dysarthria, are common in athetoid CP patients.[5] In addition, ADCP patients may have trouble eating.[3] Hearing loss is a common co-occurring condition,[2] and visual disabilities can be associated with Athetoid Cerebral Palsy. Squinting and uncontrollable eye movements may be initial signs and symptoms. Children with these disabilities rely heavily on visual stimulation, especially those who are also affected by sensory deafness.[7] Cognitive impairment occur in 30% of cases. Epilepsy occur in 25% of cases.[citation needed]
## Cause[edit]
CP in general is a non-progressive, neurological condition that results from brain injury and malformation occurring before cerebral development is complete.[5] ADCP is associated with injury and malformations to the extrapyramidal tracts in the basal ganglia or the cerebellum.[1] Lesions to this region principally arise via hypoxic ischemic brain injury or bilirubin encephalopathy.[1][5]
### Hypoxic-ischemic brain injury[edit]
Hypoxic-ischemic brain injury is a form of cerebral hypoxia in which oxygen cannot perfuse to cells in the brain. Lesions in the putamen and thalamus caused by this type of brain injury are primary causes of ADCP and can occur during the prenatal period and shortly after.[1] Lesions that arise after this period typically occur as a result of injury or infections of the brain.[8] Cerebral cortex and white matters are often relative spared, so intelligence is often normal.
### Bilirubin encephalopathy[edit]
Bilirubin encephalopathy, also known as kernicterus, is the accumulation of bilirubin in the grey matter of the central nervous system. The main accumulation targets of hyperbilirubinemia are the basal ganglia, ocular movement nucleus, and acoustic nucleus of the brainstem.[1] Pathogenesis of bilirubin encephalopathy involves several factors, including the transport of bilirubin across the blood-brain barrier and into neurons.[1] Mild disruption results in left cognition impairment, while severe disruption results in ADCP.[1] Lesions caused by accumulation of bilirubin occur mainly in the global pallidus and hypothalamus.[1] Disruption of the blood-brain barrier by disease or a hypoxic ischemic injury can also contribute to an accumulation of bilirubin in the brain.[1] Bilirubin encephalopathy leading to cerebral palsy has been greatly reduced by effective monitoring and treatment for hyperbilirubinemia in preterm infants.[1] As kernicterus has decreased due to improvements in care, over the last 50 years the proportion of children developing athetoid CP has decreased.[9] In most cases, will have normal intelligence.
## Diagnosis[edit]
### Motor function[edit]
Movement and posture limitations are aspects of all CP types and as a result, CP has historically been diagnosed based on parental reporting of developmental motor delays such as failure to sit upright, reach for objects, crawl, stand, or walk at the appropriate age.[3] Diagnosis of ADCP is also based on clinical assessment used in conjunction with milestone reporting.[2] The majority of ADCP assessments now use the Gross Motor Function Classification System (GMFCS) or the International Classification of Functioning, Disability and Health (formerly the International Classification of Impairments Disease, and Handicaps), measures of motor impairment that are effective in assessing severe CP.[1][2] ADCP is typically characterized by an individual's inability to control their muscle tone, which is readily assessed via these classification systems.[1][2]
### Neuroimaging[edit]
Magnetic resonance imaging (MRI) is used to detect morphological brain abnormalities associated with ADCP in patients that are either at risk for ADCP or have shown symptoms thereof.[4] The abnormalities chiefly associated with ADCP are lesions that appear in the basal ganglia.[4] The severity of the disease is proportional to the severity and extent of these abnormalities, and is typically greater when additional lesions appear elsewhere in the deep grey matter or white matter.[4] MRI also has the ability to detect brain malformation, periventricular leukomalacia (PVL), and areas affected by hypoxia-ischemia, all of which may play a role in the development of ADCP.[2] The MRI detection rate for ADCP is approximately 54.5%, however this statistic varies depending on the patient's age and the cause of the disease and has been reported to be significantly higher.[1]
## Treatment[edit]
Main article: Management of cerebral palsy
### Physical and occupational therapy[edit]
Physical therapy and Occupational Therapy are staple treatments of ADCP. Physical therapy is initiated soon after diagnosis and typically focuses on trunk strength and maintaining posture.[1] Physical therapy helps to improve mobility, range of motion, functional ability, and quality of life. Specific exercises and activities prescribed by a therapist help to prevent muscles from deteriorating or becoming locked in position and help to improve coordination.[10] Occupational therapy interventions for children with CP emphasises function, and therapists assist with activities of daily living, such as feeding, dressing, bathing and toileting, grooming. Various areas of occupation are also considered, and the occupational therapist may assist the child with pencil grasp and handwriting skills and play. The occupational therapist makes use of everyday activities in order to reach a functional outcome.
### Speech therapy[edit]
Speech impairment is common in ADCP patients.[2][5] Speech therapy is the treatment of communication diseases, including disorders in speech production, pitch, intonation, respiration and respiratory disorders. Exercises advised by a speech therapist or speech-language pathologist help patients to improve oral motor skills, restore speech, improve listening skills, and use communication aids or sign language if necessary.[10]
### Drug therapy[edit]
Medications that impede the release of excitatory neurotransmitters have been used to control or prevent spasms.[11] Treatment with intrathecal baclofen, a gamma-aminobutyric acid (GABA) agonist, decreases muscle tone and has been shown to decrease the frequency of muscle spasms in ADCP patients.[11] Tetrabenazine, a drug commonly used in the treatment of Huntington's disease, has been shown to be effective treating chorea.[11]
### Deep brain stimulation[edit]
Deep brain stimulation (DBS) is a technique that uses electrodes placed in the brain to modify brain activity by sending a constant electrical signal to the nearby nuclei.[11] Treatment of muscle tone issues via deep brain stimulation typically targets the global pallidus and has shown to significantly improve symptoms associated with ADCP.[11] The specific mechanism by which DBS affects ADCP is unclear.[11] DBS of the globus pallidus interna improves dystonia in people with dyskinetic CP in 40% of cases, perhaps due to variation in basal ganglia injuries.[12]
## Prognosis[edit]
The severity of impairment and related prognosis is dependent on the location and severity of brain lesions.[1] Up to 75% of patients will achieve some degree of ambulation.[5] Speech problems, such as dysarthria, are common to these patients.[5]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q Hou, M; Zhao, J; Yu, R (2006). "Recent advances in dyskinetic cerebral palsy" (PDF). World J Pediatr. 2 (1): 23–28.
2. ^ a b c d e f g h i j k O'Shea, MT (2008). "Diagnosis, treatment, and prevention of cerebral palsy in near-term/ term infants". Clin Obstet Gynecol. 51 (4): 816–828. doi:10.1097/GRF.0b013e3181870ba7. PMC 3051278. PMID 18981805.
3. ^ a b c d e f g "Athetoid Dyskinetic". Swope, Rodante P.A. Retrieved 31 October 2012.
4. ^ a b c d Krägeloh-Mann, I; Horber, V (2007). "The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: a systematic review". Developmental Medicine & Child Neurology. 49 (2): 144–151. doi:10.1111/j.1469-8749.2007.00144.x. ISSN 0012-1622. PMID 17254004. S2CID 6967370.
5. ^ a b c d e f g h Jones, MW; Morgan, E; Shelton, JE (2007). "Cerebral palsy: introduction and diagnosis (part I)". Journal of Pediatric Health Care. 21 (3): 146–152. doi:10.1016/j.pedhc.2006.06.007. PMID 17478303.
6. ^ a b c d Becher, JG (2002). "Pediatric rehabilitation in children with cerebral palsy: general management, classification of motor disorders". American Academy of Orthotists and Prosthetists. 14 (4): 143–149. Retrieved 29 January 2017.
7. ^ Black, Peter (1982). "Visual Disorders Associated with Cerebral Palsy". British Journal of Ophthalmology. 66 (1): 46–52. doi:10.1136/bjo.66.1.46. PMC 1039711. PMID 7055543.
8. ^ Facts about cerebral palsy. Centers for Disease Control and Prevention. (2012).
9. ^ Robin C. Meyers; Steven J. Bachrach; Virginia A. Stallings (2017). "Cerebral Palsy". In Shirley W. Ekvall; Valli K. Ekvall (eds.). Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment. Oxford Scholarship Online. doi:10.1093/acprof:oso/9780199398911.003.0009. ISBN 9780199398911. Retrieved 1 August 2017.
10. ^ a b "Cerebral Palsy Treatments". Education That Works. Archived from the original on 22 January 2013. Retrieved 31 October 2012.
11. ^ a b c d e f Lundy, C; Lumsden, D; Fairhurst, C (2009). "Treating complex movement disorders in children with cerebral palsy". The Ulster Medical Journal. 78 (3): 157–163. PMC 2773587. PMID 19907680.
12. ^ Aravamuthan, Bhooma R.; Waugh, Jeff L. (January 2016). "Localization of Basal Ganglia and Thalamic Damage in Dyskinetic Cerebral Palsy". Pediatric Neurology. 54: 11–21. doi:10.1016/j.pediatrneurol.2015.10.005. PMID 26706479.
## External links[edit]
Classification
D
* ICD-10: G80.3
* ICD-9-CM: 343
* OMIM: 603513 605388, 612900
* MeSH: D002547
* DiseasesDB: 2232
External resources
* MedlinePlus: 000716
* eMedicine: neuro/533 pmr/24
* v
* t
* e
Cerebral palsy
Symptoms and signs
Spasticity
* Upper motor neuron lesion
* Spastic cerebral palsy
* Scissor gait
* Spastic diplegia
* Spastic hemiplegia
* Spastic quadriplegia
Ataxia and others
* Ataxic cerebral palsy
* Dyskinetic cerebral palsy
Diagnosis
General movements assessment
Measurement scales
* Gross Motor Function Classification System - Expanded & Revised (gross motor function)
* Manual Ability Classification System (manual dexterity)
* Communication Function Classification System (communication)
* Modified Ashworth scale (spasticity)
Management
* Management of cerebral palsy
* Selective percutaneous myofascial lengthening
* Rhizotomy
Other
* People with cerebral palsy
* Cerebral palsy organizations
* Works about cerebral palsy and other paralytic syndromes
*[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
|
Athetoid cerebral palsy
|
c0270742
| 28,392 |
wikipedia
|
https://en.wikipedia.org/wiki/Athetoid_cerebral_palsy
| 2021-01-18T18:43:46 |
{"gard": ["10449"], "mesh": ["D002547"], "umls": ["C0270742"], "icd-9": ["343"], "icd-10": ["G80.3"], "wikidata": ["Q4813631"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to gallbladder disease is conferred by variation in the ABCG8 gene (605460) on chromosome 2p21.
For a phenotypic description and a discussion of genetic heterogeneity of gallbladder disease (GBD), see GBD1 (600803).
Mapping
In a genomewide association scan, Buch et al. (2007) identified a SNP (rs11887534) in the ABCG8 gene on chromosome 2p21 (D19H; 605460.0009) that was significantly associated with gallstones in 3 replication studies. A study in 1,105 additional affected individuals replicated a disease association of D19H (p = 4.1 x 10(-9), 1.1 x 10(-4) after Bonferroni correction). Additional significant replication was achieved in 728 Germans (P = 2.8 x 10(-7)). The overall odds ratio in the full German sample was 2.2 and 7.1 for heterozygous and homozygous H allele carriers, corresponding to a population risk of about 11%. The association was stronger in those with cholesterol gallstones, suggesting that ABCG8 his19 may be associated with increased efficiency of cholesterol transport into the bile lumen, causing cholesterol hypersaturation of bile and promoting the formation of gallstones.
*[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
|
GALLBLADDER DISEASE 4
|
c1969115
| 28,393 |
omim
|
https://www.omim.org/entry/611465
| 2019-09-22T16:03:16 |
{"mesh": ["C566936"], "omim": ["611465"]}
|
An accessory pathway is an additional electrical connection between two parts of the heart.[1] These pathways can lead to abnormal heart rhythms or arrhythmias associated with symptoms of palpitations. Some pathways may activate a region of ventricular muscle earlier than would normally occur, referred to as pre-excitation, and this may be seen on an electrocardiogram. The combination of an accessory pathway that causes pre-excitation with arrhythmias is known as Wolff-Parkinson-White syndrome.[2]
Accessory pathways are often diagnosed using an electrocardiogram, but characterisation and location of the pathway may require an electrophysiological study. Accessory pathways may not require any treatment, but those causing symptoms may be treated with medication including calcium channel antagonists, beta blockers or flecainide.[3] Alternatively, the electrical conduction through an accessory pathways can be abolished using catheter ablation, potentially offering a permanent cure.[3]
## Mahaim pathways[edit]
The most common sites for accessory pathways are connections between muscle tissue in the atria and the ventricles (atrio-ventricular pathways), bypassing the atrioventricular node. Rarer sites include connections between atrial muscle and the conducting tissue within the ventricles (atrio-fascicular pathways), between the atrioventricular node and the muscle tissue of the ventricle (nodo-ventricular pathways), and between the conducting tissue of the ventricle and the ventricular muscle (fasciculo-ventricular pathways). These rarer accessory pathways are sometimes collectively referred to as Mahaim pathways or Mahaim fibres.[4]
ECGs during sinus rhythm and AVRT from a 9-year-old girl with Ebstein's anomaly and a Mahaim accessory pathway.
Mahaim pathways are typically seen on the right side of the heart, with their ventricular connection lying within or close to the right bundle branch.[4] The fibres often conduct slowly and in one direction only - from the atria to the ventricles (antegrade conduction); not from the ventricles to the atria (retrograde conduction). Unlike most atrio-ventricular accessory pathways which conduct electrical impulses at a relatively fixed speed, conduction through a Mahaim pathway varies according to how rapidly it is stimulated. More frequent stimulation leads to slower conduction, known as decremental conduction.[4] If conduction to the ventricles occurs solely through the pathway (maximal pre-excitation), as occurs during arrhythmias like antidromic atrioventricular re-entrant tachycardia, the ECG appearance is of QRS complexes with a left bundle branch block morphology which can be mistaken for ventricular tachycardia. However, due to their slow decremental conduction, during sinus rhythm the 12-lead ECG will often show little pre-excitation.[4]
## References[edit]
1. ^ Josephson, Mark E. (2015-08-10). Josephson's clinical cardiac electrophysiology : techniques and interpretations. Preceded by: Josephson, Mark E. (Fifth ed.). Baltimore, MD. ISBN 9781496326614. OCLC 938434294.
2. ^ Bhatia, Atul; Sra, Jasbir; Akhtar, Masood (March 2016). "Preexcitation Syndromes". Current Problems in Cardiology. 41 (3): 99–137. doi:10.1016/j.cpcardiol.2015.11.002. ISSN 1535-6280. PMID 26897561.
3. ^ a b Katritsis, Demosthenes G.; Boriani, Giuseppe; Cosio, Francisco G.; Hindricks, Gerhard; Jaïs, Pierre; Josephson, Mark E.; Keegan, Roberto; Kim, Young-Hoon; Knight, Bradley P.; Kuck, Karl-Heinz; Lane, Deirdre A. (2017-03-01). "European Heart Rhythm Association (EHRA) consensus document on the management of supraventricular arrhythmias, endorsed by Heart Rhythm Society (HRS), Asia-Pacific Heart Rhythm Society (APHRS), and Sociedad Latinoamericana de Estimulación Cardiaca y Electrofisiologia (SOLAECE)". Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology. 19 (3): 465–511. doi:10.1093/europace/euw301. ISSN 1532-2092. PMID 27856540.
4. ^ a b c d Katritsis, Demosthenes G.; Wellens, Hein J.; Josephson, Mark E. (April 2017). "Mahaim Accessory Pathways". Arrhythmia & Electrophysiology Review. 6 (1): 29–32. doi:10.15420/aer.2016:35:1. ISSN 2050-3369. PMC 5430943. PMID 28507744.
*[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
|
Accessory pathway
|
c1963785
| 28,394 |
wikipedia
|
https://en.wikipedia.org/wiki/Accessory_pathway
| 2021-01-18T18:28:36 |
{"umls": ["C1963785"], "wikidata": ["Q4672543"]}
|
A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-14 with or without anosmia (HH14) can be caused by heterozygous mutation in the WDR11 gene (606417) on chromosome 10q26.
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.
Cytogenetics
In a 16-year-old boy with Kallmann syndrome, Schinzel et al. (1995) found a tiny chromosome fragment attached to the long arm of chromosome 1, without a visible reciprocal translocation chromosome. Through reverse chromosome painting, they defined an unbalanced der(1),t(1;10)(q44;q26) translocation. This was the third case of Kallmann syndrome with a de novo rearrangement between 2 autosomes. They suggested that the distal long arm of chromosome 1 may contain a candidate gene.
Mapping
Bhagavath et al. (2006) karyotyped 76 HH patients and identified a sporadic male patient with complete hypogonadotropic hypogonadism (no evidence of any puberty) and hyposmia who had a balanced chromosome translocation, reported as 46,XY, t(10;12)(q26.3;q13.1). After excluding copy number variation as the cause of the phenotype, Kim et al. (2010) mapped the translocation breakpoints using fluorescence in situ hybridization (FISH) followed by array painting using a customized oligonucleotide array, resulting in restatement of the karyotype to 46,XY, t(10;12)(q26.12;q13.11). PCR analysis narrowed the breakpoints further and ultimately localized the breakpoint on chromosome 12 between nucleotides 46,038,271 and 46,038,272 and the breakpoint on chromosome 10 between nucleotides 122,053,649 and 122,053,650 (NCBI36). Given previous reports of chromosome 10q26 in association with HH phenotypes (e.g., Schinzel et al., 1995), Kim et al. (2010) hypothesized that 10q was more likely than 12q to harbor the causative gene.
Molecular Genetics
Kim et al. (2010) screened 123 normosmic and hyposmic/anosmic HH patients for mutations in 3 candidate genes on chromosome 10q26, but identified no causative mutations. Sequencing a fourth candidate gene, WDR11 (606417), in 201 normosmic or hyposmic/anosmic HH patients, they identified 5 different heterozygous missense mutations in 6 unrelated probands, including 5 normosmic patients (see, e.g., 606417.0001 and 606417.0002) and 1 anosmic patient (606417.0003). DNA from the parents was unavailable, but the mutations were not found in more than 400 controls.
INHERITANCE \- Autosomal dominant HEAD & NECK Nose \- Anosmia (in some patients) CHEST Breasts \- Delayed or absent thelarche GENITOURINARY \- Delayed or absent puberty Internal Genitalia (Male) \- Small testes (in some patients) \- Cryptorchidism (in some patients) Internal Genitalia (Female) \- Primary amenorrhea NEUROLOGIC Central Nervous System \- Anosmia (in some patients) ENDOCRINE FEATURES \- Patients have normal pituitary function \- Delayed or absent puberty \- Low testosterone levels in males \- Low estradiol levels in females \- Low or normal serum gonadotropins MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein 11 gene (WDR11, 606417.0001 ) ▲ 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
|
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
|
c0162809
| 28,395 |
omim
|
https://www.omim.org/entry/614858
| 2019-09-22T15:53:59 |
{"doid": ["0090087"], "mesh": ["D017436"], "omim": ["614858"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]}
|
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
## Epidemiology
The exact incidence is unknown. To date, fewer than 20 cases have been confirmed, at a cellular or molecular level, as being truly similar to the primary cases described by Lowry, Pena and Shokeir in the indigenous population of Manitoba.
## Clinical description
COFS syndrome constitutes the prenatal extreme form of Cockayne syndrome (see this term). Clinically, the following criteria are found: congenital microcephaly, congenital cataract and/or microphthalmia, arthrogryposis, severe psychomotor developmental delay, height-weight growth delay (principally postnatal) and facial dysmorphism (prominent metopic suture, micrognathism). The axial hypotonia contrasts with the peripheral hypertonia and is associated with feeding difficulties. Cutaneous photosensitivity, peripheral neuropathy, sensorineural hearing loss and pigmentary retinopathy can be observed.
## Etiology
The identified mutations mainly concern the ERCC6/CSB gene. One case has been linked to the ERCC1 gene and particular clinical forms with major photosensitivity have been linked with the ERCC2/XPD and ERCC5/XPG genes. All the genes code for proteins implicated in the same route of DNA repair.
## Diagnostic methods
Diagnosis is based on the evidence of a defect in DNA repair (by transcription-coupled nucleotide-excision). This anomaly can be demonstrated on fibroblasts culture by ultraviolet irradiation. Early cerebral imagery is not very specific, but it can reveal cerebral and cerebellar atrophy; myelinization anomalies and calcifications of the basal ganglia can appear secondarily.
## Differential diagnosis
Differential diagnoses include infectious fetopathies (cytomegalovirus, rubella, toxoplasmosis; see these terms) and MICRO syndrome (see this term) that can present as clinically similar to COFS syndrome, but with normal DNA repair.
## Antenatal diagnosis
Prenatal diagnosis can be suspected by the presence of cataract, arthrogryposis and microcephaly. It is confirmed by examination of DNA repair in chorionic villi or amniotic cells and by checking for mutations.
## Genetic counseling
COFS syndrome is transmitted in an autosomal recessive manner.
## Management and treatment
Management is symptomatic. Enteric feeding is often necessary.
## Prognosis
COFS syndrome is a severe disease leading to death in the first years of live, particularly by respiratory infections.
*[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
|
COFS syndrome
|
c0220722
| 28,396 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1466
| 2021-01-23T18:17:21 |
{"gard": ["6027"], "mesh": ["C562434"], "omim": ["214150", "278780", "610756", "610758", "616570"], "umls": ["C0220722", "C1859312", "C2931277"], "icd-10": ["Q87.1"], "synonyms": ["Cerebrooculofacioskeletal syndrome", "Pena-Shokeir syndrome type 2"]}
|
Rare, genetic skin condition
Progressive symmetric erythrokeratodermia
Other namesErythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia is a rare, autosomal dominant skin condition that manifests soon after birth with erythematous, hyperkeratotic plaques that are symmetrically distributed on the extremities, buttocks, and face, but sparing the trunk.[1]:565 No other clinical symptoms nor mental or physical signs are usually associated with the condition.[2]
This condition is also known as Darier-Gottron syndrome, progressive symmetric erythrokeratoderma, progressive symmetric erythrokeratodermia of Gottron and erythrokeratodermia variabilis et progressiva.
Less than one hundred cases have been reported to date.
## Contents
* 1 Genetics
* 2 Mechanism
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 History
* 6 See also
* 7 References
* 8 External links
## Genetics[edit]
A mutation in the KDSR gene has been reported to be associated with this condition.[3] This gene encodes 3-ketodihydrosphingosine reductase, an enzyme in the ceramide synthesis pathway. The authors also reported that the use of systemic isotretinoin resulted in almost complete resolution of the lesions in two cases.[citation needed]
Two other reports suggest that isotretinoin may be of use.[4][5]
## Mechanism[edit]
Skin plaques start to appear as reddened areas of inflammation, thus often leading to the mistaken diagnosis of Atopic Dermatitis. Following inflammation, the red areas start keratinization, eventually forming the definitive plaques that appear brownish, dry and scaled. Following quite a precise temporal pattern of evolution, the keratinized plaques last for weeks or months, eventually leading to periods of desquamation that leads to the uncovering of "normal" skin. Then, a new cycle usually begins, leaving a variable number of days of delay between the cycles.[citation needed]
Though environmental causes are not well understood, it seems clear that factors like sun exposure, wind and air conditioning add to the degree of skin inflammation that sets the start of a new cycle.[citation needed]
## Diagnosis[edit]
### Differential diagnosis[edit]
This includes erythrokeratodermia variabilis and loricrin keratoderma
## Treatment[edit]
Definitive treatment does not exist at the moment. Palliative treatment are intended to alleviate the itching that often accompanies the skin inflammation and to moisture the dry skin to prevent excessive dryness and scaling of the plaques.[citation needed]
## History[edit]
This condition was described by Darier in 1911. It was given its present name by Grotton in 1923.
## See also[edit]
* Skin lesion
* List of cutaneous conditions
* List of cutaneous conditions caused by mutations in keratins
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Kan; Chung-Hong, Hu; Woan-Ruoh, Lee (2003). Shu-Feng' Progressive Symmetric Erythrokeratodermia - A case report. Dermatol Sinica, June 2003.
3. ^ Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ8, Choate KA (2017) Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Hum Genet 100 (6) 978-984. doi: 10.1016/j.ajhg.2017.05.003
4. ^ de Mello Guaraldi B, Jerez Jaime T, de Mello Guaraldi R, Fernandes Melo D, Maris Nogueira O, Rodrigues N (2013) Progressive symmetrical erythrokeratodermia - case report. An Bras Dermatol 88 (1) 109–112. doi:10.1590/S0365-05962013000100016
5. ^ Yan H-B, Zhang J, Liang W, Zhang H-Y, Liu J-Y (2011) Progressive symmetric erythrokeratoderma: Report of a Chinese family. 77 (5) 597-60
## External links[edit]
Classification
D
* OMIM: 133200
* DiseasesDB: 32838
External resources
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* TRPC6
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* GJA1
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* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
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Porin
* AQP2
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See also: ion channels
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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
|
Progressive symmetric erythrokeratodermia
|
c0265961
| 28,397 |
wikipedia
|
https://en.wikipedia.org/wiki/Progressive_symmetric_erythrokeratodermia
| 2021-01-18T18:30:25 |
{"mesh": ["D056266"], "orphanet": ["316"], "synonyms": ["Darier-Gottron disease", "Erythrokeratodermia progressiva symmetrica", "Progressive symmetric erythrokeratodermia, Gottron type"], "wikidata": ["Q7248873"]}
|
## Clinical Features
Yan et al. (2006) reported a large multigenerational Chinese family with postlingual, high frequency hearing loss that progressed to involve all frequencies and showed an autosomal dominant pattern of inheritance.
Mapping
In a large multigenerational Chinese family with postlingual, high frequency hearing loss that progressed to involve all frequencies, Yan et al. (2006) mapped the disorder to 14q11.2-q12. A maximum multipoint lod score of 5.4 was obtained for marker D14S1280. Analysis of recombinant haplotypes mapped DFNA53 to a 9.6-cM region between markers D14S581 and D14S1021. Four deafness loci had previously been mapped to 14q: DFNA9 (601369), caused by mutations in the cochlin gene (COCH; 603196); DFNA23 (605192); DFNB5 (600792); and DFNB35 (608565). The critical region for DFNA53 contained the gene for DFNA9 but did not overlap with the regions for the other 3 forms of deafness. Screening of the COCH gene, BOCT (SLC22A17; 611461), EFS (609906), and HSPC156 (STXBP6; 607958) within the DFNA53 interval did not identify the cause for deafness in this family.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural, postlingual progressive bilateral (affecting high frequencies) MISCELLANEOUS \- Onset in second decade of life progresses from mild to profound hearing loss \- One six-generation family from northern China has been reported (last curated August 2015) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DEAFNESS, AUTOSOMAL DOMINANT 53
|
c1864957
| 28,398 |
omim
|
https://www.omim.org/entry/609965
| 2019-09-22T16:05:24 |
{"doid": ["0110579"], "mesh": ["C566495"], "omim": ["609965"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "Autosomal dominant non-syndromic neurosensory deafness type DFNA", "Autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "Autosomal dominant non-syndromic sensorineural hearing loss type DFNA"]}
|
## Clinical Features
Kloepfer (1946) studied the relative length of the index and middle fingers. Short index fingers (i.e., the index finger is shorter than the ring finger) is said to be dominant in men, recessive in women. Three phenotypes were noted--second longer than fourth, second equal to fourth, and second shorter than fourth (Phelps, 1952).
Mapping
Medland et al. (2010) performed a genomewide association study in 1,507 11-year-old children from the Avon Longitudinal Study of Parents and Children (ALSPAC) in whom the ratio of the lengths of the second to fourth digit (2D:4D ratio) had been measured and in a sample of 1,382 12- to 16-year-olds from the Brisbane Adolescent Twin Study. Metaanalysis of the 2 scans identified a single variant in the LIN28B gene that was strongly associated with 2D:4D, rs314277 (p = 4.1 x 10(-8)); the finding was independently replicated in an additional 3,659 children from the ALSPAC cohort (p = 1.53 x 10(-6)). The authors noted that the minor allele of the rs314277 variant had previously been linked to increased height and delayed age at menarche (see 612882), but in the present study it was associated with increased 2D:4D in the direction opposite to that of previous reports. Medland et al. (2010) questioned the validity of 2D:4D as a simplistic retrospective biomarker for prenatal testosterone exposure.
Limbs \- Short index fingers Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
FINGERS, RELATIVE LENGTH OF
|
c1851079
| 28,399 |
omim
|
https://www.omim.org/entry/136100
| 2019-09-22T16:41:11 |
{"omim": ["136100"], "synonyms": ["Alternative titles", "2D:4D FINGER-LENGTH RATIO"]}
|
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