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cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
## Epidemiology
To date, over 500 cases of cblC have been reported, making it the most frequent type of methylmalonic acidemia with homocystinuria.
## Clinical description
The disease typically presents with failure to thrive, acute neurological deterioration, intellectual deficit, lethargy, seizures, microcephaly, a salt-and-pepper retinopathy, and signs of megaloblastic anemia (pallor, fatigue, anorexia). Severe brain abnormalities including hydrocephalus, white matter abnormalities, cerebral atrophy, and unusual basal ganglia lesions are common. Onset of the disorder can be early (infantile) or late (juvenile or adult), with the late-onset form characterized by ataxia, dementia and psychosis.
## Etiology
cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Methylmalonic acidemia with homocystinuria, type cblC
|
c1848561
| 25,400 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79282
| 2021-01-23T18:43:31 |
{"gard": ["12128"], "mesh": ["C537359"], "omim": ["277400"], "icd-10": ["D58.8"], "synonyms": ["CblC defect", "Cobalamin C defect", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "Methylmalonic aciduria with homocystinuria, type cblC"]}
|
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-10 (CILD10) is caused by homozygous mutation in the KTU gene (DNAAF2; 612517) on chromosome 14q21.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Omran et al. (2008) reported 3 individuals with primary ciliary dyskinesia from 2 families, both consanguineous, who carried mutations in the KTU gene. In all affected individuals there was no detectable KTU protein, and transmission electron microscopy of respiratory cilia and sperm tails identified abnormal axonemal dynein arms. All 3 affected individuals suffered from chronic otitis media, sinusitis, and recurrent pneumonia since birth. Two of the 3 had situs inversus totalis and 1 had situs solitus.
Molecular Genetics
Among affected individuals from 112 families with primary ciliary dyskinesia, Omran et al. (2008) identified loss-of-function mutations in the KTU gene (612517.0001-612517.0002) in 3 individuals from 2 consanguineous families.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CILIARY DYSKINESIA, PRIMARY, 10
|
c0022521
| 25,401 |
omim
|
https://www.omim.org/entry/612518
| 2019-09-22T16:01:29 |
{"doid": ["0110612"], "mesh": ["D007619"], "omim": ["244400", "612518"], "orphanet": ["244"], "synonyms": ["Alternative titles", "PCD", "CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS"], "genereviews": ["NBK1122"]}
|
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lethal infantile mitochondrial myopathy
|
c1838876
| 25,402 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254857
| 2021-01-23T18:02:59 |
{"mesh": ["C564017"], "omim": ["551000"], "umls": ["C1838876"], "icd-10": ["G71.3"], "synonyms": ["LIMD", "LIMM", "Lethal infantile mitochondrial disease"]}
|
## Clinical Features
Penile contracture is characterized by the formation of thickened fibrous plaques on the dorsum of the penis. The condition bears certain fundamental similarities to Dupuytren contracture of the hand and the 2 occur rather frequently in the same subject. Peyronie disease has been induced by adrenergic blockers such as propranolol and practolol (Kristensen, 1979).
In Rome, Carrieri et al. (1998) performed a case-control study of 134 men with Peyronie disease and 134 male controls. Men who had undergone invasive procedures on the penis (e.g., urethral catheterization, cystoscopy, and transurethral prostatectomy) had a 16-fold increased risk of Peyronie disease, while a nearly 3-fold increase was observed among men who had genital and/or perineal trauma. A history of urethritis, uricacidemia, and lipoma was also significantly associated with increased risk for Peyronie disease. Dupuytren contracture was found in 21% of cases and none of the controls, and 4% of the cases and none of the controls reported familial history for Peyronie disease. The frequency of inflammatory or fibromatous lesions of the genital tract of the partner were significantly higher in men with Peyronie disease than among controls. These results were consistent when performing a stratified analysis according to the type of controls (i.e., controls affected by urologic or by digestive conditions) to rule out the potential effect of recall bias. The importance of genital trauma and genetic background in the development of Peyronie disease was supported.
Bivalacqua et al. (2000) reviewed published research on the pathophysiology of Peyronie disease; they concluded that the lesion starts as a sclerosing inflammatory process and develops into a connective tissue disorder involving the tunica albuginea, but noted that the etiology remains poorly understood.
Inheritance
An anonymous nongeneticist suggested to McKusick (1980) that Peyronie disease is 'sex-linked with reduced penetrance.' Bias et al. (1982) concluded that this phenotype is a male-limited, autosomal dominant trait. They traced Peyronie disease through several families. Dupuytren contracture was often present in both males and females. In 1 kindred, males in 3 successive generations had Peyronie disease and Dupuytren contractures, and the latter was present in a fourth generation. Close linkage with HLA (see 142800) was excluded. Chromosomal abnormalities were described by Somers et al. (1987) and by Guerneri et al. (1991).
History
Musitelli et al. (2008) reviewed historical reports from as far back as the 13th century for what have been described by modern medical historians as possible cases of Peyronie disease, but concluded that the first real description was that of De La Peyronie himself, who described 2 men, 30 years and 40 years old, respectively, with 'indurations of the cavernous bodies' of the penis (De La Peyronie, 1743).
GU \- Penile contracture Limbs \- Associated Dupuytren contracture Inheritance \- Male-limited, 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
|
PEYRONIE DISEASE
|
c0030848
| 25,403 |
omim
|
https://www.omim.org/entry/171000
| 2019-09-22T16:36:19 |
{"doid": ["8616"], "mesh": ["D010411"], "omim": ["171000"], "icd-9": ["607.85"], "icd-10": ["N48.6"]}
|
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-9 (ATFB9) is caused by heterozygous mutation in the KCNJ2 gene (600681) on chromosome 17q24.3.
Description
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Clinical Features
Xia et al. (2005) studied a 4-generation Chinese family segregating autosomal dominant atrial fibrillation (AF). The proband was a 59-year-old man who had been diagnosed with AF at 54 years of age and had paroxysmal AF 2 to 3 times a month. His father and an older sister, who were diagnosed at age 58 years and 50 years, respectively, had persistent atrial fibrillation before their deaths. A younger sister, who was diagnosed at 50 years of age, had paroxysmal AF as frequently as once or twice a week, and a 57-year-old niece was diagnosed with paroxysmal AF on 24-hour electrocardiographic (ECG) recordings. All affected members of the family had normal QT intervals on ECG, experienced no episodes of muscle weakness or syncope, and did not have frequent premature ventricular contractions or ventricular tachycardia on 24-hour ECG monitoring. Serum potassium levels were within normal limits. None of the patients exhibited any syndromic features such as cleft palate, low-set ears, short stature, clinodactyly, syndactyly, or brachydactyly.
Mapping
In the 4-generation Chinese family with atrial fibrillation, Xia et al. (2005) performed linkage analysis and obtained a 2-point lod score of 1.93 (theta = 0.0) for the flanking microsatellite marker D17S949.
Molecular Genetics
In the probands from 30 unrelated Chinese kindreds with atrial fibrillation (AF), Xia et al. (2005) analyzed 10 candidate ion channel or transporter-related genes, and identified a heterozygous missense mutation in the KCNJ2 gene (600681.0014) in 1 of the probands. All affected individuals in this 4-generation family carried the mutation, as well as the 42- and 33-year-old nephews of the proband, in whom AF was not detected on 24-hour ECG monitoring. In view of their relatively young age and the paroxysmal nature of AF, Xia et al. (2005) did not exclude that the nephews were affected.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Atrial fibrillation, paroxysmal \- Atrial fibrillation, persistent (in some patients) MOLECULAR BASIS \- Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 2 gene (KCNJ1, 600681.0014 ) ▲ 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
|
ATRIAL FIBRILLATION, FAMILIAL, 9
|
c3151431
| 25,404 |
omim
|
https://www.omim.org/entry/613980
| 2019-09-22T15:56:57 |
{"doid": ["0050650"], "omim": ["613980", "608583"], "orphanet": ["334"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-24 (EIEE24) is caused by heterozygous mutation in the HCN1 gene (602780) on chromosome 5p12.
Heterozygous mutation in the HCN1 gene can also cause generalized epilepsy with febrile seizures plus-10 (GEFSP10; 618482), which is less severe than EIEE but shows some phenotypic overlap. These disorders represent a spectrum of seizures conferred by mutation in the HCN1 gene.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350.
Clinical Features
Nava et al. (2014) reported 6 unrelated patients of European descent with EIEE. The patients had onset of pharmacoresistant febrile seizures between 4 and 13 months of age. Seizure type at onset tended to be tonic-clonic or hemiclonic but evolved into predominantly focal absence and myoclonic later in childhood. Four patients had status epilepticus. All patients had intellectual disability of varying degrees, and most had behavioral disturbances or autistic features. Two had ataxia. Brain imaging was normal.
Marini et al. (2018) reported 8 unrelated patients with EIEE24. The patients had onset of various types of refractory seizures in infancy. Seizure types included severe febrile seizures, focal, tonic, atonic, myoclonic-atonic, and tonic-clonic. Two patients died at 14 and 15 months of age, and the remaining patients had variably impaired intellectual development sometimes with language delay or autistic features. Brain imaging was essentially normal, although some patients had nonspecific white matter abnormalities. EEG showed multifocal and diffuse discharges and paroxysmal abnormalities. Two patients had microcephaly.
Molecular Genetics
In 6 unrelated patients with EIEE24, Nava et al. (2014) identified 6 different heterozygous missense mutations in the HCN1 gene (see, e.g., 602780.0001-602780.0005). Five of the mutations were confirmed to occur de novo; parental DNA was not available for the remaining patient. The first 2 mutations were found by whole-exome sequencing of 39 parent-offspring trios; subsequent mutations were found by direct sequencing of the HCN1 gene in 2 independent cohorts of 95 and 62 patients, respectively. Electrophysiologic patch-clamp studies in CHO cells showed divergent effects of the mutations. Some had a major effect on channel gating, resulting in a gain of function, whereas no current was recorded for others. Most, but not all, showed a dominant-negative effect. Overall, the findings indicated that most of the mutations led to a gain of function, although some loss-of-function features of the mutations may also have contributed to the phenotype. Nava et al. (2014) suggested that the effect of the mutations may depend on the physiologic context and cells in which they are expressed, and noted that the precise mechanism by which HCN1 mutations cause EIEE remained to be clarified.
In 8 unrelated patients with EIEE24, Marini et al. (2018) identified de novo heterozygous missense mutations in the HCN1 gene (see, e.g., 602780.0006-602780.0007). The mutations, which were found by sequencing of epilepsy gene panels and confirmed by Sanger sequencing, were not present in the gnomAD database. In vitro functional expression studies of selected mutations showed adverse effects on channel function, ranging from loss of function to shifts in activation kinetics and/or voltage dependence. Mutations associated with this severe phenotype tended to cluster within or close to transmembrane domains. The authors concluded that HCN1 mutations may lead to a gain of function or dominant-negative effects causing neuronal hyperexcitability.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Epileptic encephalopathy \- Intellectual disability \- Intractable seizures \- Various types of seizures \- Multifocal and diffuse paroxysmal abnormalities seen on EEG \- Febrile seizures \- Ataxia (in some patients) \- Brain imaging may be normal \- Nonspecific white matter abnormalities Behavioral Psychiatric Manifestations \- Behavioral disturbances \- Autistic features MISCELLANEOUS \- Onset usually in the first year of life \- Seizures tend to become more focal with age \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel (HCN1, 602780.0001 ) ▲ 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
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
|
c4014531
| 25,405 |
omim
|
https://www.omim.org/entry/615871
| 2019-09-22T15:50:46 |
{"doid": ["0080429"], "omim": ["615871"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]}
|
A number sign (#) is used with this entry because of evidence that anterior segment dysgenesis-1 (ASGD1) is caused by heterozygous mutation in the PITX3 gene (602669) on chromosome 10q24.
Description
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Some patients with ASGD1 have been reported with the Peters anomaly subtype.
In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).
Clinical Features
Hittner et al. (1981) identified a kindred of German descent in which autosomal dominant anterior segment mesenchymal dysgenesis with variable expression affected members of at least 8 generations. Clinical findings ranged from an anterior Schwalbe line with mild cataract to severe corneal opacification with moderate cataract, while visual acuity varied from 20/20 to hand motion only. The proband had corneal transplant and cataract extraction of one eye at age 6 weeks. Microscopic studies of the cornea showed basal epithelial cell protrusions into a thickened Bowman layer, 'activated' keratocytes throughout the entire stroma, no Descemet layer or endothelial cells, and an aggregation of keratocytes posteriorly. The lens showed focal aggregations of vesicles in cortical fibers with extensive epithelial atrophy.
Hittner et al. (1982) examined 15 affected and 13 unaffected members from 4 generations of the kindred with ASMD originally identified by Hittner et al. (1981). All affected individuals had cortical cataracts, some of which were minute and had no visual significance, and 3 patients had optic nerve abnormalities. Corneal opacities with or without iris adhesions were seen in 10 patients; the iris adhesions were associated with both central and peripheral corneal opacities, indicating anterior segment dysgenesis. Affected patients had no skull, limb, umbilical, or genitourinary anomalies, and there was no mental retardation.
Mollica et al. (1985) studied a Sicilian family in which many persons had cataract with microcornea and myopia. Although cataracts started early, they were apparently not congenital. The axial length of the globe was normal. Myopia was thought by the authors to distinguish this disorder from the cataract-microcornea syndromes reported by Friedmann and Wright (1952) and by Polomeno and Cummings (1979). It is possible that these 3 families all had the same disorder. Indeed, Salmon et al. (1988) were of that opinion and documented the syndrome in a 7-generation family. Microcornea and cataract were present in 18 members, and an additional 6 had sclerocornea or Peters anomaly. Most persons with microcornea had a corneal diameter of less than 11 mm in both meridians, with moderately steep corneal curvatures. The inherited cataracts progressed to form a total cataract after visual maturity had been achieved. In the 4 affected children who had not undergone cataract extraction, the common abnormality was a posterior polar lens opacity.
Withers et al. (1999) studied a large Australian kindred segregating anterior segment abnormalities, including cataracts and Peters anomaly, in an autosomal dominant fashion. There were 15 affected individuals in 8 sibships over 4 generations; 13 of the affected members were female, and there was no instance of male-to-male transmission. Corneal clouding was present in 4 individuals; in 1, bilateral clouding was so severe that it precluded examination of the interior of the eye. Bilateral cataracts had been removed in 10 patients at ages ranging from 8 to 38 years. Three individuals examined at the ages of 2 months, 4 years, and 18 months, respectively, had no cataract; reexamination at ages 4 years, 7 years, and 5 years, respectively, showed cataract in one or both lenses of all 3. There was no indication of mental retardation, renal disease, or other clinical signs suggestive of Peters-plus syndrome (see 261540) or WAGR syndrome (194072); similarly, there was no consistent finding of raised intraocular pressures, corectopia, dental hypoplasia, umbilical abnormalities, or other features consistent with Rieger syndrome (see 180500).
Mapping
By linkage analysis in the 6-generation family with ASMD previously reported by Hittner et al. (1982), Semina et al. (1998) found linkage of the disorder to chromosome 10q24-q25 with a lod score of 4.8 (theta = 0.0) with the marker D10S192 in the region of the PITX3 locus.
### Exclusion Studies
In a large Australian kindred segregating anterior segment abnormalities, including cataracts and Peters anomaly, in an autosomal dominant fashion, Withers et al. (1999) excluded linkage to the PAX6 gene (607108) on chromosome 11p13.
Inheritance
The transmission pattern of ASMD in the families reported by Hittner et al. (1981) and Withers et al. (1999) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of the kindred with ASMD reported by Hittner et al. (1982), Semina et al. (1998) identified heterozygosity for a 17-bp insertion in the PITX3 gene (602669.0001). The mutation was not found in unaffected members of the family or in 300 ethnically matched control chromosomes.
In affected members of a large Australian kindred segregating anterior segment abnormalities, including Peters anomaly with corneal clouding, iridolenticular corneal adhesions, displaced Schwalbe line, and cataract, previously reported by Withers et al. (1999), Summers et al. (2008) identified heterozygosity for the 17-bp duplication in the PITX3 gene (602669.0001). Noting that there was no difference in the size of the duplication between severely affected and more mildly affected individuals, the authors suggested the existence of modifier loci.
History
Ferrell et al. (1982) found linkage of ASMD and blood group MN (111300), with a lod score of 3.48. Such a linkage would place the ASMD locus on 4q; MN is located on 4q28-q31. Semina et al. (1998) found that the linkage of ASMD to blood group MN reported by Ferrell et al. (1982) was incorrect. Semina et al. (1998) stated that this linkage appears to have been an artifact resulting from low marker heterozygosity and the absence of any available flanking markers for confirmation.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Microcornea \- Cataracts, multiple types \- Corneal opacities of variable size and density \- Iris adhesions (synechiae) \- Prominent and/or displaced Schwalbe line \- Elevated intraocular pressure \- Peters anomaly \- Grade III or IV angles by gonioscopy \- Corneal endothelial abnormalities seen on slit lamp examination \- Reduced total endothelial cell counts seen on specular microscopy \- Donut-shaped configurations seen on specular microscopy \- Large extracellular spaces of endothelium seen on specular microscopy \- Absent Descemet membrane (reported in 1 patient) \- Absent endothelium in central cornea seen on electron microscopy (reported in 1 patient) \- Absent Descemet layer in both central and peripheral cornea (reported in 1 patient) \- Increased corneal tonofilaments (reported in 1 patient) \- Increased corneal desmosomes (reported in 1 patient) \- Fragmented basal lamina (reported in 1 patient) \- Bimodal collagen fiber diameter of corneal stroma (reported in 1 patient) MISCELLANEOUS \- Variable features present \- Markedly variable expressivity within families \- Histopathology findings from report of 1 patient MOLECULAR BASIS \- Caused by mutation in the paired-like homeodomain transcription factor-3 gene (PITX3, 602669.0001 ) ▲ 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
|
ANTERIOR SEGMENT DYSGENESIS 1
|
c1862839
| 25,406 |
omim
|
https://www.omim.org/entry/107250
| 2019-09-22T16:44:56 |
{"mesh": ["C537775"], "omim": ["107250"], "orphanet": ["88632"], "synonyms": ["ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS", "Alternative titles", "Anterior segment dysgenesis", "ANTERIOR SEGMENT OCULAR DYSGENESIS"]}
|
Medical symptom, a sudden and often unannounced loss of postural tone
For other uses, see Collapse.
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This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Collapse" medical – news · newspapers · books · scholar · JSTOR (April 2019)
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Collapse (medical)
SpecialtyCardiology
Collapse is a sudden and often unannounced loss of postural tone (going weak), often but not necessarily accompanied by loss of consciousness. If the episode is accompanied by a loss of consciousness, the term syncope is used.
The main causes are cardiac (e.g. due to irregular heart beat, low blood pressure), seizures or a psychological cause.[1] The main tool in distinguishing the causes is careful history on the events before, during and after the collapse, from the patient as well as from any possible witnesses. Other investigations may be performed to further strengthen the diagnosis, but many of these have a low yield.[1]
Lipothymia (Greek λείπω, "take leave", and θυμός, "senses, soul, heart") is an alternative term common in Europe. It is listed in ICD-10 as R55
## References[edit]
1. ^ a b Petkar S, Cooper P, Fitzpatrick AP (October 2006). "How to avoid a misdiagnosis in patients presenting with transient loss of consciousness". Postgrad Med J. 82 (972): 630–41. doi:10.1136/pgmj.2006.046565. PMC 2653900. PMID 17068273.
This medical symptom 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
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Collapse (medical)
|
None
| 25,407 |
wikipedia
|
https://en.wikipedia.org/wiki/Collapse_(medical)
| 2021-01-18T18:40:43 |
{"wikidata": ["Q18054140"]}
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Rambaud et al. (1986) described a family in which 3 of 7 sibs had marked and progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and calcified areas of the brain. By electron microscopy, they found that the hyaline substance in the intestinal capillaries consisted of concentric layers of basement membrane-like deposits. Extensive deposits of this material were present in the subepithelial and mesangial spaces of the kidneys. The patients had a peculiar phenotype with poikiloderma and graying of the hair in the twenties. Diarrhea, rectal bleeding, malabsorption, and protein-losing enteropathy were the main and lethal clinical problems. Peripheral retinal ischemic changes and chorioretinal scars were found in the ocular fundi of both affected sisters. A subarachnoid hemorrhage due to a right sylvian aneurysm occurred in both sisters. The parents were not consanguineous.
Hair \- Early graying Eyes \- Peripheral retinal ischemic changes \- Chorioretinal scars Neuro \- Brain calcification Lab \- EM shows concentric layers of basement membrane-like deposits in intestinal capillaries, and subepithelial and mesangial spaces of the kidneys Vascular \- Progressive vascular hyalinosis \- Subarachnoid hemorrhage \- Sylvian aneurysm Skin \- Poikiloderma Inheritance \- Autosomal recessive GI \- Diarrhea \- Rectal bleeding \- Malabsorption \- Protein-losing enteropathy ▲ 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
|
VASCULAR HYALINOSIS
|
c2930864
| 25,408 |
omim
|
https://www.omim.org/entry/277175
| 2019-09-22T16:21:22 |
{"mesh": ["C535283"], "omim": ["277175"], "orphanet": ["3018"]}
|
A number sign (#) is used with this entry because of evidence that isolated microphthalmia with coloboma-5 (MCOPCB5) is caused by heterozygous mutation in the Sonic hedgehog gene (SHH; 600725) on chromosome 7q36.
For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 (300345).
Clinical Features
Schimmenti et al. (2003) examined an 8-month-old boy with bilateral microphthalmia, bilateral inferonasal coloboma of the iris, a right-sided chorioretinal coloboma involving the entire optic disc and extending into the fovea, and a left-sided uveoretinal coloboma sparing the optic disc and macular area. The boy had no stigmata of holoprosencephaly or other anomalies or malformations, and on follow-up at age 11 years, he was an honors student with no serious medical illnesses. The mother of the proband was initially believed to be phenotypically normal, but thorough ophthalmic examination revealed a subtle right-sided inferonasal iris defect and a minimal uveoretinal coloboma, with a normal left eye. She had no findings suggestive of a syndromic malformation. Examination of the father, a brother, and other family members showed no ocular or other physical defects.
Molecular Genetics
In a boy with bilateral colobomatous microphthalmia, Schimmenti et al. (2003) identified heterozygosity for a 24-bp deletion in the SHH gene (600725.0016). His mother, who had unilateral iris and uveoretinal coloboma, and 3 unaffected family members carried the same deletion. The authors noted that incomplete expression of SHH mutations had also been observed in several holoprosencephaly pedigrees (see Nanni et al., 1999).
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Microphthalmia, bilateral \- Coloboma of iris \- Coloboma, chorioretinal \- Coloboma, uveoretinal MISCELLANEOUS \- Reduced penetrance MOLECULAR BASIS \- Caused by mutation in the sonic hedgehog gene (SHH, 600725.0016 ) ▲ 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
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
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c2931501
| 25,409 |
omim
|
https://www.omim.org/entry/611638
| 2019-09-22T16:03:04 |
{"mesh": ["C537463"], "omim": ["611638"], "orphanet": ["98938"], "genereviews": ["NBK1378"]}
|
A number sign (#) is used with this entry because of evidence that retinal vasculopathy with cerebral leukodystrophy (RVCL) is caused by heterozygous mutation in the TREX1 gene (606609) on chromosome 3p21.
Description
Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007).
Clinical Features
Grand et al. (1988) reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis. The CNS lesions were considered unlike any previously reported, leading Grand et al. (1988) to conclude that this was a 'new' hereditary vasculopathy.
Gutmann et al. (1989) described the same disorder in a family with affected brother and sister and affected son of the brother and daughter of the sister. The proposita was a woman of Ashkenazi Jewish ancestry who developed progressive loss of vision in her right eye beginning at age 52. She also had had long-standing weakness and pain in her legs. Evaluation at the age of 57 showed retinal exudates and hemorrhage with decreased visual acuity as well as leg weakness and hyperreflexia. Westergren erythrocyte sedimentation rate was elevated. Magnetic resonance imaging and computerized tomography brain scan demonstrated bilateral white matter lesions which progressed. The daughter of the proposita developed transient visual loss and progressive forgetfulness in her early thirties. She had bilateral lower limb hyperreflexia. A biopsy of punctate skin lesions on her thighs demonstrated vasculitis. A brother of the proposita died of presumed brain tumor at the age of 51. In his late forties he had developed progressive visual loss, difficulty concentrating, speech difficulty, seizures, and a mild hemiparesis. The son of this man developed progressive visual loss, forgetfulness, and muscle pains in his legs in his late thirties. Fluorescein angiogram demonstrated retinal perivascular extravasation of dye. He had bilateral lower limb hyperreflexia, and by magnetic resonance imaging of his brain, lesions in the periventricular white matter.
Terwindt et al. (1998) described hereditary vascular retinopathy (HVR), Raynaud phenomenon (179600), and migraine in a large Dutch family originally reported by Storimans et al. (1991). The disorder showed autosomal dominant inheritance and was characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries that appeared preferentially around the macula (Storimans et al., 1991).
Ophoff et al. (2001) reported that abnormalities could be detected by use of fluorescein angiography in otherwise asymptomatic family members who were 25 to 30 years old, suggesting an age of onset in young adulthood. Later stages of the disease involved occlusion of branches of large retinal arteries, avascular areas in the retinal periphery, and sometimes proliferative retinopathy with extensive avascular areas, even close to the optic disc. Of affected members of this family, 80% also had Raynaud phenomenon and migraine was present in 70% of individuals with HVR; a combination of migraine and Raynaud phenomenon was observed in 55% of patients with HVR. Vascular retinopathy is also a prominent feature of the hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) described by Grand et al. (1988), Gutmann et al. (1989), and Jen et al. (1997). The distinctive feature in the families reported by Grand et al. (1988) and Jen et al. (1997) was the presence of progressive subcortical contrast-enhancing lesions with surrounding edema, mimicking tumors and prompting biopsy in numerous affected family members. In the North American family of Chinese ancestry with HERNS reported by Jen et al. (1997), electron microscopy showed distinctive multilamination of subendothelial basement membranes of capillaries in the brain and other tissues.
A notable similarity among the 3 families in whom linkage to the same region was demonstrated by Ophoff et al. (2001) was the high prevalence of migraine-like headaches. On the other hand, Raynaud phenomenon was reported only in patients with HVR, and pseudotumors as seen in both cerebroretinal vasculopathy and HERNS had not been reported in HVR.
Siveke and Schmid (2003) described 2 brothers with cerebroretinal vasculopathy who had elevated serum levels of gamma-glutamyltranspeptidase and alkaline phosphatase with normal transaminases for several years prior to the diagnosis of CRV and the onset of typical cerebroretinal manifestations. Cirrhosis developed in one of the brothers. Both brothers suffered from bilateral osteonecrosis of the femoral head at about 30 years of age, which required total hip arthroplasty.
Mateen et al. (2010) reported the clinical course of members of the large kindred reported by Grand et al. (1988). A 44-year-old woman belonging to this kindred had daily tension-type headaches and chronic sinusitis. Retinal examination showed microvascular disease with minimal progression and without visual loss, and laboratory studies showed mild elevation of liver transaminases. Brain MRI showed a lesion abutting the frontal horn of the right lateral ventricle, which appeared larger after 6 months and was surrounded by edema with a central zone of presumed necrosis. At 12 months, however, the lesion had regressed with near resolution of the surrounding edema without treatment. Her affected father and paternal grandfather also had histories of tumor-like lesions of the brain. Mateen et al. (2010) noted that in RVCL, these lesions may occur without neurologic symptoms. The authors also emphasized that treatment of these lesions is unclear.
Mapping
In the large Dutch family reported by Terwindt et al. (1998) with hereditary vascular retinopathy, Raynaud phenomenon, and migraine, Ophoff et al. (2001) mapped the locus for HVR to 3p21.3-p21.1. In the family with cerebral retinal vasculopathy reported by Grand et al. (1988) and in the family with HERNS reported by Jen et al. (1997), Ophoff et al. (2001) found linkage to the same region, suggesting allelism of these disorders.
Inheritance
Richards et al. (2007) demonstrated that retinal vasculopathy with cerebral leukodystrophy is an autosomal dominant disorder.
Molecular Genetics
In 9 families with autosomal dominant retinal vasculopathy with cerebral leukodystrophy, including families previously described by Grand et al. (1988), Storimans et al. (1991), Jen et al. (1997), Weil et al. (1999), and Cohn et al. (2005), Richards et al. (2007) identified 5 different heterozygous frameshift mutations at the C terminus of the TREX1 gene (see, e.g., 606609.0008 and 606609.0009). In expression studies, the truncated proteins retained exonuclease activity but lost normal perinuclear localization.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Decreased visual acuity, progressive \- Retinal vasculopathy \- Retinal exudates \- Retinal hemorrhage \- Macular edema \- Microangiopathic telangiectasia \- Microaneurysms CARDIOVASCULAR Vascular \- Raynaud phenomenon ABDOMEN Liver \- Micronodular cirrhosis (less common) GENITOURINARY Kidneys \- Glomerular dysfunction (variable) SKIN, NAILS, & HAIR Skin \- Punctate vasculitis skin lesions NEUROLOGIC Central Nervous System \- Central nervous system degeneration \- Poor concentration \- Progressive forgetfulness \- Dementia, progressive \- Dysarthria \- Seizures \- Leg hyperreflexia \- Hemiparesis \- Apraxia \- Stroke \- Migraine \- Periventricular white matter lesions \- Subcortical lesions with edema \- Pseudotumors Behavioral Psychiatric Manifestations \- Psychiatric disturbances LABORATORY ABNORMALITIES \- Proteinuria \- Hematuria \- Abnormal liver enzymes MISCELLANEOUS \- Onset in adulthood \- Progressive disorder \- Death occurs 5 to 10 years after onset MOLECULAR BASIS \- Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0008 ) ▲ 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
|
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY
|
c1860518
| 25,410 |
omim
|
https://www.omim.org/entry/192315
| 2019-09-22T16:32:02 |
{"mesh": ["C566007"], "omim": ["192315"], "orphanet": ["247691"], "synonyms": ["Alternative titles", "CEREBRORETINAL VASCULOPATHY, HEREDITARY", "RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA"]}
|
A number sign (#) is used with this entry because congenital fibrosis of extraocular muscles-1 (CFEOM1) is caused by heterozygous mutation in the KIF21A gene (608283) on chromosome 12q12.
Mutations in the KIF21A gene have also been reported in patients with CFEOM3B.
Description
Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).
CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.
The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (600638) is caused by mutation in the TUBB3 gene (602661) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (608283) on chromosome 12q12; and CFEOM3C (609384) maps to chromosome 13q.
CFEOM4 (609428), also known as Tukel syndrome, maps to chromosome 21q.
CFEOM5 (616219) is caused by mutation in the COL25A1 gene (610004) on chromosome 4q25.
See also NOMENCLATURE below.
Clinical Features
Congenital fibrosis of extraocular muscles is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Although an earlier report of congenital blepharoptosis with markedly restricted eye movements can be identified, the classic report of familial congenital bilateral blepharoptosis with absence of extrinsic ocular muscle function was that of Heuck (1879). In addition to fibrosis of the extraocular muscles, fibrosis of the Tenon capsule and adhesions between muscles, Tenon capsule, and globe are found. There is no elevation or depression of the eyes and little or no horizontal movement. The eyes are fixed 20 to 30 degrees below the horizontal and as a result the patient holds the head tilted back in a 'chin-up' position. The condition, including blepharophimosis, is present from birth. Heuck (1879) showed, in the postmortem examination of one of his patients, and Apt and Axelrod (1978) confirmed at operation that the extraocular muscles are not only fibrotic but also insert anomalously. Laughlin (1956) observed the condition in at least 4 generations of a family. Hansen (1968) described an affected mother, son, and daughter. Harley et al. (1978) traced the disorder through 4 generations. The parents of the first affected person were first cousins, a probably coincidental event; the first affected person may have had his disorder as a result of new mutation. Male-to-male transmission was described. Walther (1983) observed 'a few beautiful autosomal dominant pedigrees containing many instances of father-son transmission.'
Engle et al. (1995) provided a photograph of 3 sibs. The 2 affected children had ptosis and hypotropic strabismus with a compensatory backward tilt to the head. They also showed a horizontal smile in comparison with their unaffected sister.
Gottlob et al. (2002) reported a 9-month-old girl with classic CFEOM who also had elevation of her right eye during tooth brushing. She showed no voluntary ocular elevation above the midline, and her eyes converged on attempted upgaze. However, when her right maxillary teeth or upper gums were touched, her right eye elevated above the midline. This elevation was not elicited by jaw movements, as seen in Marcus Gunn jaw-winking (154600). The authors felt that this represented the first case of CFEOM with aberrant regeneration between the nerve to the superior rectus and the trigeminal nerve. They concluded that this aberrant innervation supports a primary developmental abnormality of the cranial nerves as the cause of CFEOM. The child's exonic and flanking intronic regions of the CFEOM2 ARIX gene (602753) were sequenced and no mutations were found.
Reck et al. (1998) estimated that the minimum prevalence of CFEOM in the Wessex region of England is 1 in 230,000. They identified 4 families in an attempt at total ascertainment. CFEOM had previously been divided into several clinical entities: general fibrosis syndrome, vertical retraction syndrome, and congenital fibrosis of the inferior rectus. In this study, Reck et al. (1998) found that several of the presumably distinct CFEOM entities were present within 1 family, suggesting that these are variants of the same condition and that subclassification is not warranted.
Sener et al. (2000) described the phenotype of a Turkish family with autosomal dominant variably expressed CFEOM that was linked to the FEOM1 locus on chromosome 12. Since the family demonstrated autosomal dominant inheritance with reduced penetrance and variable expressivity, the phenotype was classified as CFEOM3 (Mackey et al. (2002)).
Rudolph et al. (2009) reported 3 families and 2 unrelated patients with CFEOM1 due to a heterozygous R943W mutation in the KIF21A gene (608283.0001). All patients were of German origin, except 1 who was Turkish. The phenotype was relatively homogeneous: affected individuals showed bilateral restricted upgaze with compensatory chin elevation, ptosis, and variable limitations of horizontal gaze motility. Some had esotropia and/or exotropia. Many patients had corrective surgery of the extraocular muscles. In 1 family, affected individuals also had mental disability or mental retardation, which Rudolph et al. (2009) postulated may indicate that the syndrome can be associated with more general neurologic dysfunction in addition to impairment in ocular motility. Haplotype analysis did not indicate a founder effect.
### Congenital Fibrosis of Extraocular Muscles 3B
Sener et al. (2000) reported a Turkish family with autosomal dominant inheritance of a variably expressed disorder consistent with congenital fibrosis of extraocular muscles. Eighteen of the 29 affected family members had bilateral congenital ptosis and restrictive infraductive (downward) ophthalmoplegia consistent with classic CFEOM1; however, 11 affected individuals had eye(s) in a neutral primary position, residual upgaze, and/or absence of ptosis, most closely resembling a CFEOM3 phenotype. The mutation in this family appeared to exhibit reduced penetrance and marked variability.
Lin et al. (2005) reported a Taiwanese family with CFEOM3. The phenotype in this family was considered different from classic CFEOM1 because of intrafamilial variation in disease severity. Two members had classic disease with severe ptosis and fixed eyes. Three other members were all affected, but these individuals could still move their eyes, and severity between the 2 eyes also differed.
Lu et al. (2008) reported a Chinese family with a phenotype consistent with CFEOM3. The diagnosis of CFEOM3 was due to variable involvement and severity of ophthalmoplegia and ptosis. Five individuals had a classic phenotype with bilateral severe ptosis, restricted upgaze, and compensatory head position. By contrast, 3 individuals had at least 1 eye with mild ptosis, residual upgaze, or the ability to elevate above the midline. Two additional family members had varying ptosis without compensatory head position. Finally, 1 individual, who was an obligate carrier, had only subtle symptoms with mild limitation of vertical ocular motility without ptosis, strabismus, or compensatory head position.
Pathogenesis
From neuropathologic examination of an individual with CFEOM1, Engle et al. (1997) demonstrated an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei.
Mapping
Engle et al. (1994) mapped the gene responsible for this disorder to an 8-cM interval flanked by D12S87 and D12S85 in 2 unrelated families. Engle et al. (1995) refined the linkage in the 2 families reported by Engle et al. (1994), performed linkage analysis of 5 additional families, and provided a physical map of the critical region for the CFEOM gene. In each of the 7 families, the disease gene was linked to the pericentromeric region of chromosome 12, supporting genetic homogeneity.
Black et al. (1998) reported 3 families with typical CFEOM. One family did not map to the FEOM1 locus on chromosome 12 or to the FEOM2 locus on chromosome 11. The family also did not map to 1p34.1-p32, where the gene for isolated congenital ptosis (PTOS1; 178300) has been mapped. Black et al. (1998) also reported recombinants in 2 families that potentially reduced the candidate region for CFEOM1 to the region flanked by D12S345 and D12S1048, although they emphasized that this regionalization is based on an assumption of locus homogeneity and full penetrance.
In a Turkish family with a CFEOM3 phenotype, Sener et al. (2000) found strong linkage to the CFEOM1 locus on chromosome 12 (maximum lod score of 10.8 at D12S85). These data indicated that there may be greater phenotypic heterogeneity at the CFEOM1 locus than previously reported, and the authors noted that this may blur the ability to distinguish different CFEOM loci based solely on clinical presentation.
Engle et al. (2002) analyzed 11 unpublished CFEOM1 pedigrees and found that 9 were consistent with linkage to the FEOM1 locus on chromosome 12. In the remaining 2 families that were not linked to the FEOM1 locus, the CFEOM1 phenotype cosegregated with the FEOM3 locus (600638) markers on chromosome 16q. These findings suggested that the CFEOM1 phenotype is genetically heterogeneous.
Molecular Genetics
In 31 probands with CFEOM1 from unrelated families and in 13 sporadic cases, Yamada et al. (2003) identified 6 different heterozygous mutations in the KIF21A gene (see 608283.0001-608283.0006).
Tiab et al. (2004) identified the R954W mutation (608283.0001) in all affected members of 3 families of Swiss, Turkish, or French origin with CFEOM1, as well as in a sporadic case of Iranian origin. The R954W mutation was not observed in 100 normal controls from various ethnic origins. Tiab et al. (2004) concluded that mutation analysis in CFEOM1 is important, especially in sporadic cases, to evaluate correctly recurrence and transmission risks.
In affected members of a 4-generation Indian family with CFEOM1, Ali et al. (2004) identified the R954W mutation, which affected the C nucleotide of a CpG dinucleotide. A G-to-A transition at this nucleotide results in the R954Q mutation (608283.0002). Bisulfite genomic sequencing revealed that all the CpG dinucleotides in exon 21 were methylated both in the genomic DNA from blood and sperm. Ali et al. (2004) concluded that the high mutability of this CpG dinucleotide may result, in part, from its methylated state.
To investigate the structural basis of ocular motility abnormalities in patients with CFEOM1, Demer et al. (2005) performed high-resolution orbital MRI in 19 individuals from 6 unrelated CFEOM1 pedigrees, harboring 4 of the 6 reported KIF21A mutations, and 23 normal controls. Patients with CFEOM1 had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In the affected individuals, MRI demonstrated atrophy of the levator palpebrae superioris and superior rectus extraocular muscles (EOMs) and small or absent orbital motor nerves. The oculomotor nerve was most severely hypoplastic, but the abducens was also affected. EOMs exhibited variable atrophy and an abnormally bright T1 signal. Individuals with the arg954-to-trp (R954W; 608283.0001) substitution or the arg954-to-gln (R954Q; 608283.0002) substitution frequently exhibited A-pattern strabismus, with misinnervation of the lateral rectus muscle by an oculomotor nerve branch. Patients with CFEOM1 exhibited subclinical but highly significant reduction from normal in mean optic nerve size (p less than 0.001). Comparing clinical and MRI phenotypes did not reveal distinguishing features among KIF21A mutations. Demer et al. (2005) concluded that orbital imaging in CFEOM1 caused by various amino acid substitutions in the kinesin KIF21A demonstrated consistent abnormalities of motor and sensory innervation in the orbit and that neuronal disease is primary in CFEOM1, with myopathy arising secondary to abnormal innervation and minimal rectus pulley abnormality due to reduced EOM forces.
### Congenital Fibrosis of Extraocular Muscles 3B
In affected members of a family with CFEOM3 reported by Sener et al. (2000), Yamada et al. (2004) identified a heterozygous mutation in the KIF21A gene (M947I; 608283.0007). Yamada et al. (2004) stated that the occurrence of a CFEOM3 phenotype rather than a CFEOM1 phenotype in this family may result in part from environmental factors or genetic background. They noted that a subset of individuals within this pedigree did exhibit the classic CFEOM1 phenotype, suggesting that some KIF21A mutations may cause a more variable and milder CFEOM phenotype. Yamada et al. (2004) did not identify KIF21A mutations in 11 additional CFEOM3 pedigrees or in 10 patients with sporadic CFEOM3, suggesting that KIF21A mutations are a rare cause of the CFEOM3 phenotype.
In affected members of a Taiwanese family with CFEOM3, Lin et al. (2005) identified a heterozygous mutation in the KIF21A gene (R943W; 608283.0001). This mutation had been identified in other families with classic CFEOM1. The molecular findings of Lin et al. (2005) thus indicated that the CFEOM3 phenotype can be caused by KIF21A mutations, and that the expression of KIF21A mutations may be variable. However, Lin et al. (2005) suggested that the third family may be better described as CFEOM1 with variability in expression.
In affected members of a Chinese family with CFEOM3, Lu et al. (2008) identified a heterozygous mutation in the KIF21A gene (R954Q; 608283.0002), which had previously been identified in patients with classic CFEOM1.
Heterogeneity
Yoshida et al. (2007) reported a Japanese family in which at least 4 individuals had congenital fibrosis of the extraocular muscles inherited in an autosomal dominant pattern. All affected individuals showed a complete loss of upgaze with ptosis and severe or moderate restriction of downgaze. Horizontal gaze function was relatively well preserved, although horizontal nystagmus was noted in 2 patients. Pupillary reactions were normal, and there was no retinal pigmentary degeneration or optic atrophy. Two middle-aged patients but not 2 younger patients developed a slowly progressive gait ataxia in adolescence. Brain MRI in all patients showed cerebellar atrophy. Mild hearing impairment and learning difficulties were also noted. Although 4 affected individuals shared a common haplotype at the FEOM1 locus at chromosome 12p11.2-q12, direct sequencing of the KIF21A gene failed to identify a pathogenic mutation in the proband.
Nomenclature
The designations CFEOM1, CFEOM2, and CFEOM3 refer to the clinical subtypes of congenital fibrosis of extraocular muscles. The designations FEOM1, FEOM2, FEOM3, and FEOM4 refer to loci on chromosomes 12q12, 11q13, 16q24, and 13q12, respectively (Heidary et al., 2008).
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Compensatory chin elevation Eyes \- Ptosis, bilateral \- Congenital fibrosis of extraocular muscles \- Restrictive external ophthalmoplegia, bilateral \- Bilateral infraducted eye position (downward gaze) \- Inability to raise eyes above midline \- Secondary esotropia \- Secondary exotropia MUSCLE, SOFT TISSUES \- Levator palpebrae superioris atrophy \- Rectus superior atrophy NEUROLOGIC Central Nervous System \- Absent superior division of oculomotor nerve and corresponding alpha motor neurons MISCELLANEOUS \- Some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having CFEOM3 (CFEOM3B) MOLECULAR BASIS \- Caused by mutation in the kinesin family member 21A gene (KIF21A, 608283.0001 ) ▲ 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
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
|
c1302995
| 25,411 |
omim
|
https://www.omim.org/entry/135700
| 2019-09-22T16:41:10 |
{"doid": ["0080143"], "mesh": ["C580012"], "omim": ["135700"], "orphanet": ["45358"], "synonyms": ["Alternative titles", "OPHTHALMOPLEGIA, CONGENITAL", "BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS", "FEOM1 LOCUS"], "genereviews": ["NBK1348"]}
|
In an analysis of 79 nonsmall cell lung carcinomas, Iizuka et al. (1995) identified a 5-cM region on chromosome 11q23 that is commonly deleted. In addition to this identification by loss of heterozygosity (LOH), the presence of a tumor suppressor gene on 11q in NSCLCs was also demonstrated by use of a functional assay. A549, a human NSCLC-derived cell line, shows complete loss of one copy of chromosome 11. When a chromosome 11 from a non-NSCLC cell line was introduced into A549 cells by microcell-mediated chromosome transfer, the transformed phenotype was lost as measured by several growth parameters and suppression of tumorigenicity in nude mice (Satoh et al., 1993). Although this assay clearly implicated chromosome 11, it did not provide the information on the precise chromosomal localization of the tumor suppressor gene. LOH had indicated the location as 11q23. Murakami et al. (1998) modified 3 YAC clones spanning the minimal loss of heterozygosity region, and used spheroplast fusion to transfer them into human A549 NSCLC or murine Lewis lung cancer (LLC) cell lines. Injection of parental A549 cells into athymic (nu/nu) mice resulted in tumor formation in 27 of 28 injection sites. In contrast, 2 independent cell lines containing the DNA segment from 11q23 formed tumors at only 3 of 20 injection sites. Cells containing the same transferred segment also suppressed tumor formation by LLC NSCLC cells in nude mice. Further localization of tumor suppression activity was accomplished by introduction of defined fragmentation derivatives into A549 cells and by analysis of YACs that were broken on transfer into LLC cells. The complementation approach localized tumor suppression activity to the central 700 kb of the critical clone and provided a functional assay for positional cloning of this tumor suppressor gene.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
TUMOR SUPPRESSOR GENE ON CHROMOSOME 11
|
c1864232
| 25,412 |
omim
|
https://www.omim.org/entry/603040
| 2019-09-22T16:13:20 |
{"omim": ["603040"], "synonyms": ["Alternative titles", "TSG11", "NONSMALL CELL LUNG CANCER SUPPRESSOR"]}
|
Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet. It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each 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
|
Orofaciodigital syndrome 2
|
c0026363
| 25,413 |
gard
|
https://rarediseases.info.nih.gov/diseases/3701/orofaciodigital-syndrome-2
| 2021-01-18T17:58:34 |
{"mesh": ["D009958"], "omim": ["252100"], "orphanet": ["2751"], "synonyms": ["OFD2", "OFD syndrome 2", "Oral-facial-digital syndrome type 2", "Mohr syndrome", "Orofaciodigital syndrome II", "Oral facial digital syndrome 2", "Oral facial digital syndrome type 2", "OFDS 2"]}
|
Rauch et al. (1999) reported 2 sisters with a syndrome of severe developmental delay, ataxia, impaired social interaction, seizure disorder with early onset but without epileptiform electroencephalographic changes, and a striking light-fixating behavior which was associated with retinal cone dystrophy. Additionally, they had minor anomalies including peripheral iris hypoplasia, bluish sclerae, mild anteversion of nostrils, micrognathia, ear anomalies, broad halluces and thumbs, hypoplastic toenails, short perineal body, Mongolian spots, mild hirsutism, hypoplastic ridges in the hypothenar area, and distal axial triradii. Growth and general health were normal in both, but one also had tetralogy of Fallot and vesicoureteral reflux. Because this condition appeared to be previously undescribed, Rauch et al. (1999) postulated that it represents a 'new' autosomal recessive disorder with light-fixating behavior and retinal cone dystrophy as leading features. The fundi in these 2 patients had a normal appearance, but abnormal cone function was detected on the basis of decreased flicker-following response, low normal response to a single bright flash, and decreased visual evoked responses bilaterally. X-linked female-restricted epilepsy with mental retardation (EFMR; 300088) was considered unlikely because in that disorder development is normal until age 4 to 18 months and developmental regression occurs thereafter, presumably secondary to the grand mal convulsive disorder. There was no evidence of regression in the patients of Rauch et al. (1999) and hyperreflexia seen in the sisters is absent in the EFMR syndrome. All patients with EFMR remained ambulatory. Furthermore, cone dystrophy or light-staring behavior had not been described in patients with EFMR.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
LIGHT FIXATION SEIZURE SYNDROME
|
c1863767
| 25,414 |
omim
|
https://www.omim.org/entry/603530
| 2019-09-22T16:13:00 |
{"mesh": ["C566367"], "omim": ["603530"], "synonyms": ["Alternative titles", "LFSS", "M SYNDROME"]}
|
A respiratory therapist examining a mechanically ventilated patient on an Intensive Care Unit; protracted mechanical ventilation is a hallmark of chronic critical illness
Chronic critical illness is a disease state which affects intensive care patients who have survived an initial insult but remain dependent on intensive care for a protracted period, neither dying nor recovering.[1] The most characteristic clinical feature is a prolonged requirement for mechanical ventilation.[2] Other features include profound weakness associated with critical illness polyneuropathy and myopathy, increased susceptibility to infection, metabolic changes and hormonal changes. There may be protracted or permanent delirium, or other marked cognitive impairment. The physical and psychological symptoms of the disease are very severe, including a propensity to develop post traumatic stress syndrome.[3]
Strict definitions of chronic critical illness vary. One definition is the requirement for mechanical ventilation for 21 days or more. It is estimated that 5-10% of patients who require mechanical ventilation as part of their initial illness will go on to develop chronic critical illness. [2] Overall prevalence has been estimated at 34.4 per 100 000 of the population.[4] Most adult patients do not survive chronic critical illness, and furthermore even those who are discharged from hospital frequently die soon after discharge. [3] One-year mortality in adults is 48-68%. [2] However, children fare better with two-thirds surviving to 5 years or beyond. [5]
## See also[edit]
* Post-intensive care syndrome
## References[edit]
1. ^ Girard K, Raffin TA. The chronically critically ill: to save or let die? Respir Care. 1985; 30: 339-47. PMID 10315661
2. ^ a b c Nelson JE, Cox CE, Hope AA, Carson SS. Chronic critical illness. Am J Respir Crit Care Med. 2010; 182(4): 446-54. PMID 20448093
3. ^ a b Nelson JE, Meier DE, Litke A, Natale DA, Siegel RE, Morrison RS. The symptom burden of chronic critical illness. Crit Care Med. 2004; 32(7): 1527-34. PMID 15241097
4. ^ Kahn JM, Le T, Angus DC, Cox CE, Hough CL, White DB et al. The epidemiology of chronic critical illness in the United States. Crit Care Med. 2005; 43(2): 282-7. PMID 25377018
5. ^ Namachivayam SP, Alexander J, Slater A, Millar J, Erickson S, Tibballs J et al. Five-Year Survival of Children With Chronic Critical Illness in Australia and New Zealand Crit Care Med. 2015; 43(9): 1978-85. PMID 25962079
* v
* t
* e
Intensive care medicine
* Health science
* Medicine
* Medical specialities
* Respiratory therapy
General terms
* Intensive care unit (ICU)
* Neonatal intensive care unit (NICU)
* Pediatric intensive care unit (PICU)
* Coronary care unit (CCU)
* Critical illness insurance
Conditions
Organ system failure
Shock sequence
SIRS
Sepsis
Severe sepsis
Septic shock
Multiple organ dysfunction syndrome
Other shock
Cardiogenic shock
Distributive shock
Anaphylaxis
Obstructive shock
Neurogenic shock
Spinal shock
Vasodilatory shock
Organ failure
Acute renal failure
Acute respiratory distress syndrome
Acute liver failure
Respiratory failure
Multiple organ dysfunction syndrome
* Neonatal infection
* Polytrauma
* Coma
Complications
* Critical illness polyneuropathy / myopathy
* Critical illness–related corticosteroid insufficiency
* Decubitus ulcers
* Fungemia
* Stress hyperglycemia
* Stress ulcer
Iatrogenesis
* Methicillin-resistant Staphylococcus aureus
* Oxygen toxicity
* Refeeding syndrome
* Ventilator-associated lung injury
* Ventilator-associated pneumonia
* Dialytrauma
Diagnosis
* Arterial blood gas
* Catheter
* Arterial line
* Central venous catheter
* Pulmonary artery catheter
* Blood cultures
* Screening cultures
Life-supporting treatments
* Airway management
* Chest tube
* Dialysis
* Enteral feeding
* Goal-directed therapy
* Induced coma
* Mechanical ventilation
* Therapeutic hypothermia
* Total parenteral nutrition
* Tracheal intubation
Drugs
* Analgesics
* Antibiotics
* Antithrombotics
* Inotropes
* Intravenous fluids
* Neuromuscular-blocking drugs
* Recombinant activated protein C
* Sedatives
* Stress ulcer prevention drugs
* Vasopressors
ICU scoring systems
* APACHE II
* Glasgow Coma Scale
* PIM2
* SAPS II
* SAPS III
* SOFA
Physiology
* Hemodynamics
* Hypotension
* Level of consciousness
* Acid–base imbalance
* Water-electrolyte imbalance
Organisations
* Society of Critical Care Medicine
* Surviving Sepsis Campaign
* European Society of Paediatric and Neonatal Intensive Care
Related specialties
* Anesthesiology
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* v
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Medicine
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and
subspecialties
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* Cardiac surgery
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* Alternative medicine
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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
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Chronic critical illness
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https://en.wikipedia.org/wiki/Chronic_critical_illness
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{"wikidata": ["Q28453776"]}
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Heparin necrosis
SpecialtyDermatology
Heparin necrosis is a cutaneous condition and usually occurs between days 5 and 10 of heparin therapy.[1]
## See also[edit]
* Warfarin necrosis
* 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 1-4160-2999-0.
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
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Heparin necrosis
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None
| 25,416 |
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https://en.wikipedia.org/wiki/Heparin_necrosis
| 2021-01-18T19:06:42 |
{"wikidata": ["Q5731655"]}
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Hole develops in the birth canal as a result of childbirth.
Obstetric fistula
Areas where obstetric fistulae commonly occur
SpecialtyUrology, gynecology
SymptomsIncontinence of urine or feces[1]
ComplicationsDepression, infertility, social isolation[1]
Usual onsetChildbirth[1]
Risk factorsObstructed labor, poor access to medical care, malnutrition, teenage pregnancy[1][2]
Diagnostic methodBased on symptoms, supported methylene blue[3]
PreventionAppropriate use of cesarean section[1]
TreatmentSurgery, urinary catheter, counseling[1][3]
Frequency2 million (developing world), rare (developed world)[1]
Obstetric fistula is a medical condition in which a hole develops in the birth canal as a result of childbirth.[1][2] This can be between the vagina and rectum, ureter, or bladder.[1][4] It can result in incontinence of urine or feces.[1] Complications may include depression, infertility, and social isolation.[1]
Risk factors include obstructed labor, poor access to medical care, malnutrition, and teenage pregnancy.[1][2] The underlying mechanism is poor blood flow to the affected area for a prolonged period of time.[1] Diagnosis is generally based on symptoms and may be supported by use of methylene blue.[3]
Obstetric fistulae are almost entirely preventable with appropriate use of cesarean section.[1] Treatment is typically by surgery.[1] If treated early, the use of a urinary catheter may help with healing.[3] Counseling may also be useful.[1] An estimated 2 million women in sub-Saharan Africa, Asia, the Arab region, and Latin America have the condition, with about 75,000 new cases developing a year.[1] It occurs very rarely in the developed world.[1] It is considered a disease of poverty.[5]
## Contents
* 1 Signs and symptoms
* 1.1 Physical
* 1.2 Social
* 1.3 Psychological
* 2 Risk factors
* 2.1 Poverty
* 2.2 Malnutrition
* 2.3 Lack of education
* 2.4 Early childbirth
* 2.5 Lack of healthcare
* 2.6 Status of women
* 3 Prevention
* 4 Treatment
* 4.1 Surgery
* 4.2 Challenges
* 4.3 Catheterization
* 5 Epidemiology
* 6 History
* 7 Society and culture
* 7.1 Campaign to end fistula
* 7.2 Fistula Fortnight
* 7.3 Community organizations
* 7.4 Treatment centers
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Symptoms of obstetric fistula include:
* Flatulence, urinary incontinence, or fecal incontinence, which may be continual or only happen at night[6][7][8]
* Foul-smelling vaginal discharge[7][8][9]
* Repeated vaginal or urinary tract infections[8][9][10]
* Irritation or pain in the vagina or surrounding areas[9][11][12]
* Pain during sexual activity[9][11][12]
Other effects of obstetric fistulae include stillborn babies due to prolonged labor, which happens 85% to 100% of the time,[13][14][15][16] severe ulcerations of the vaginal tract, "foot drop", which is the paralysis of the lower limbs caused by nerve damage, making it impossible for women to walk,[8][17][18] infection of the fistula forming an abscess,[9] and up to two-thirds of the women become amenorrhoeic.[19]
Obstetric fistulae have far-reaching physical, social, economic, and psychological consequences for the women affected. According to UNFPA, “Due to the prolonged obstructed labour, the baby almost inevitably dies, and the woman is left with chronic incontinence. Unable to control the flow of urine or faeces, or both, she may be abandoned by her husband and family and ostracized by her community. Without treatment, her prospects for work and family life are virtually nonexistent.” [20]
### Physical[edit]
The most direct consequence of an obstetric fistula is the constant leakage of urine, feces, and blood as a result of a hole that forms between the vagina and bladder or rectum.[21] This leaking has both physical and societal penalties. The acid in the urine, feces, and blood causes severe burn wounds on the legs from the continuous dripping.[22] Nerve damage that can result from the leaking can cause women to struggle with walking and eventually lose mobility. In an attempt to avoid the dripping, women limit their intake of water and liquid, which can ultimately lead to dangerous cases of dehydration. Ulceration and infections can persist, as well as kidney disease and kidney failure, which can each lead to death. Further, only a quarter of women who suffer a fistula in their first birth are able to have a living baby, and therefore have minuscule chances of conceiving a healthy baby later on. Some women, due to obstetric fistulae and other complications from childbirth, do not survive.[16]
### Social[edit]
Physical consequences of obstetric fistulae lead to severe sociocultural stigmatization for various reasons. For example, in Burkina Faso, most citizens do not believe an obstetric fistula to be a medical condition, but as a divine punishment or a curse for disloyal or disrespectful behavior.[23] Other sub-Saharan cultures view offspring as an indicator of a family's wealth. A woman who is unable to successfully produce children as assets for her family is believed to make her and her family socially and economically inferior. A patient's incontinence and pain also render her unable to perform household chores and childrearing as a wife and as a mother, thus devaluing her.[24] Other misconceptions about obstetric fistulae are that they are caused by venereal diseases or are divine punishment for sexual misconduct.[25]
As a result, many girls are divorced or abandoned by their husbands and partners, disowned by family, ridiculed by friends, and even isolated by health workers.[17] Divorce rates for women who suffer from an obstetric fistula range from 50%[26][27][28][29] to as high as 89%.[25] Now marginalized members of society, girls are forced to live on the edges of their villages and towns, often to live in isolation in a hut where they will likely die from starvation or an infection in the birth canal. The unavoidable odor is viewed as offensive, thus their removal from society is seen as essential. Accounts of women who suffer obstetric fistulae proclaim that their lives have been reduced to the leaking of urine, feces, and blood because they are no longer capable or allowed to participate in traditional activities, including the duties of wife and mother. Because such consequences highly stigmatize and marginalize the woman, the intense loneliness and shame can lead to clinical depression and suicidal thoughts. Some women have formed small groups and resorted to walking to seek medical help, where their characteristic odor makes them a target for sub-Saharan predatory wildlife, further endangering their lives. This trip can take on average 12 hours to complete.[30] Moreover, women are sometimes forced to turn to commercial sex work as a means of survival because the extreme poverty and social isolation that result from obstetric fistulae eliminate all other income opportunities. With only 7.5% of women with fistulae able to access treatment, the vast majority of women end up with the consequences of obstructed and prolonged labor simply because options and access to help is so limited.[31]
### Psychological[edit]
Some common psychological consequences that women with a fistula face are the despair from losing their child, the humiliation from their smell, and inability to perform their family roles.[14] Additionally, a fear of developing another fistula in future pregnancies exists.[32]
Obstetric fistula is not only debilitating physically, but emotionally. A woman is presented with an array of psychological trauma that she must oftentimes deal with herself unless provided with ample resources. Oftentimes ostracized by her community, a woman with obstetric fistula tends to face these issues on her own. In a study of The lived experience of Malawian women with Obstetric Fistula, the immense psychological trauma is addressed: “For these women, internalizing this constant struggle leads to psychological morbidity.”[33] It was striking how many women discussed constant sadness and giving up hope in their interviews.”
Although the psychological impacts center around the woman experiencing the fistula, others around them, and especially loved ones, feel the impact as well. The same study references this: “This attitude was often shared by their family members, both husbands and female relatives.”[33]
Women with obstetric fistula face severe mental health issues.[34] Among women with obstetric fistula from Bangladesh and Ethiopia 97 percents screened positive for potential mental health dysfunctions and about 30% had major depression.[34]
## Risk factors[edit]
In less-developed countries, obstetric fistulae usually develop as a result of prolonged labor when a cesarean section cannot be obtained.[35] Over the course of the three to five days of labor, the unborn child presses against the mother's vagina very tightly, cutting off blood flow to the surrounding tissues between the vagina and the rectum and between the vagina and the bladder, causing the tissues to disintegrate and rot away.[8][17][19]
Obstetric fistulae can also be caused by poorly performed abortions,[36] and pelvic fracture, cancer, or radiation therapy targeted at the pelvic area, inflammatory bowel disease (such as Crohn's disease and ulcerative colitis). Other potential causes for the development of obstetric fistulae are sexual abuse and rape, especially in conflict/postconflict areas,[37] and other trauma, such as surgical trauma.[17][38]
In the developed world, such as the US, the primary cause of obstetric fistulae, particularly RVF, is the use of episiotomy and forceps.[39] Primary risk factors include early or closely spaced pregnancies and lack of access to emergency obstetric care. For example, a 1983 study in Nigeria found that 54.8% of the people affected were under 20 years of age, and 64.4% gave birth at home or in poorly equipped local clinics.[40] When available at all, cesarean sections and other medical interventions are usually not performed until after tissue damage has already been done.[citation needed]
Social, political, and economic causes that indirectly lead to the development of obstetric fistulae concern issues of poverty, malnutrition, lack of education, early marriage and childbirth, the role and status of women in developing countries, harmful traditional practices, sexual violence, and lack of good quality or accessible maternal and health care.[8][16][17][41]
### Poverty[edit]
Poverty is the main indirect cause of obstetric fistulae around the world. As obstructed labor and obstetric fistulae account for 8% of maternal deaths worldwide[42] and “a 60-fold difference in gross national product per person shows up as a 120-fold difference in maternal mortality ratio,” impoverished countries produce higher maternal mortality rates and thus higher obstetric fistula rates.[43] Furthermore, impoverished countries not only have low incomes, but also lack adequate infrastructure, trained and educated professionals, resources, and a centralized government that exist in developed nations to effectively eradicate obstetric fistulae.[44]
According to UNFPA, “Generally accepted estimates suggest that 2.0-3.5 million women live with obstetric fistulae in the developing world, and between 50,000 and 100,000 new cases develop each year. All but eliminated from the developed world, obstetric fistula continues to affect the poorest of the poor: women and girls living in some of the most resource-starved remote regions in the world.”[45]
### Malnutrition[edit]
One reason that poverty produces such high rates of fistula cases is the malnutrition that exists in such areas.[16] Lack of money and access to proper nutrition,[46] as well as vulnerability to diseases that exist in impoverished areas because of limited basic health care and disease prevention methods, cause inhabitants of these regions to experience stunted growth. Sub-Saharan Africa is one such environment where the shortest women have on average lighter babies and more difficulties during birth when compared with full-grown women. This stunted growth causes expectant mothers to have skeletons unequipped for proper birth, such as an underdeveloped pelvis.[16] This weak and underdeveloped bone structure increases the chances that the baby will get stuck in the pelvis during birth, cutting off circulation and leading to tissue necrosis. Because of the correlation between malnutrition, stunted growth, and birthing difficulties, maternal height can at times be used as a measure for expected labor difficulties.[43]
### Lack of education[edit]
High levels of poverty also lead to low levels of education among impoverished women concerning maternal health. This lack of information in combination with obstacles preventing rural women to easily travel to and from hospitals lead many to arrive at the birthing process without prenatal care. This can cause a development of unplanned complications that may arise during home births, in which traditional techniques are used. These techniques often fail in the event of unplanned emergencies, leading women to go to hospital for care too late, desperately ill, and therefore vulnerable to the risks of anesthesia and surgery that must be used on them. In a study of women who had prenatal care and those who had unbooked emergency births, “the death rate in the booked-healthy group was as good as that in many developed countries, [but] the death rate in the unbooked emergencies was the same as the death rate in England in the 16th and 17th centuries.” In this study, 62 unbooked emergency women were diagnosed with obstetric fistulae out of 7,707 studied, in comparison to three diagnosed booked mothers out of 15,020 studied.[43] In addition, studies find that education is associated with lower desired family size, greater use of contraceptives, and increased use of professional medical services. Educated families are also more likely to be able to afford health care, especially maternal healthcare.[47]
### Early childbirth[edit]
In sub-Saharan Africa, many girls enter into arranged marriages soon after menarche (usually between the ages of 9 and 15). Social factors and economic factors contribute to this practice of early marriages. Socially, some grooms want to ensure their brides are virgins when they get married, so an earlier marriage is desirable.[46] Economically, the bride price received and having one less person to feed in the family helps alleviate the financial burdens of the bride's family.[48] Early marriages lead to early childbirth, which increases the risk of obstructed labor, since young mothers who are poor and malnourished may have underdeveloped pelvises. In fact, obstructed labor is responsible for 76 to 97% of obstetric fistulae.[13]
### Lack of healthcare[edit]
Even women who do make it to the hospital may not get proper treatment. Countries that suffer from poverty, civil and political unrest or conflict, and other dangerous public health issues such as malaria, HIV/AIDS, and tuberculosis often suffer from a severe burden and breakdown within the healthcare system. This breakdown puts many people at risk, specifically women. Many hospitals within these conditions suffer from shortages of staff, supplies, and other forms of medical technology that would be necessary to perform reconstructive obstetric fistula repair.[citation needed] There is a shortage of doctors in rural Africa, and studies find that the doctors and nurses who do exist in rural Africa often do not show up for work.[47]
Poverty hinders women from being able to access normal and emergency obstetric care because of long distances and expensive procedures. For some women, the closest maternal care facility can be more than 50 km away. In Kenya, a study by the Ministry of Health found that the "rugged landscape, long distances to health facilities, and societal preferences for delivery with a traditional birth attendant contributed to delays in accessing necessary obstetric care."[49] Emergency cesarean sections, which can help avoid fistulae caused by prolonged vaginal deliveries, are very expensive.[citation needed]
### Status of women[edit]
In developing countries, women who are affected by obstetric fistulae do not necessarily have full agency over their bodies or their households. Rather, their husbands and other family members have control in determining the healthcare that the women receive.[16] For example, a woman's family may refuse medical examinations for the patient by male doctors, but female doctors may be unavailable, thus barring women from prenatal care.[46] Furthermore, many societies believe that women are supposed to suffer in childbirth, thus are less inclined to support maternal health efforts.[47]
## Prevention[edit]
Prevention is the key to ending fistulae. UNFPA states that, “Ensuring skilled birth attendance at all births and providing emergency obstetric care for all women who develop complications during delivery would make fistula as rare in developing countries as it is in the industrialized world.” [1] In addition, access to health services and education – including family planning, gender equality, higher living standards, child marriage, and human rights must be addressed to reduce the marginalization of women and girls. Reducing marginalization in these areas could reduce maternal disability and death by at least 20%.[1]
Prevention comes in the form of access to obstetrical care, support from trained health care professionals throughout pregnancy, providing access to family planning, promoting the practice of spacing between births, supporting women in education, and postponing early marriage. Fistula prevention also involves many strategies to educate local communities about the cultural, social, and physiological factors of that condition and contribute to the risk for fistulae. One of these strategies involves organizing community-level awareness campaigns to educate women about prevention methods such as proper hygiene and care during pregnancy and labor.[50] Prevention of prolonged obstructed labor and fistulae should preferably begin as early as possible in each woman's life. For example, improved nutrition and outreach programs to raise awareness about the nutritional needs of children to prevent malnutrition, as well as improve the physical maturity of young mothers, are important fistula prevention strategies. It is also important to ensure access to timely and safe delivery during childbirth: measures include availability and provision of emergency obstetric care, as well as quick and safe cesarean sections for women in obstructed labor. Some organizations train local nurses and midwives to perform emergency cesarean sections to avoid vaginal delivery for young mothers who have underdeveloped pelvises.[30] Midwives located in the local communities where obstetric fistulae are prevalent can contribute to promoting health practices that help prevent future development of obstetric fistulae. NGOs also work with local governments, like the government of Niger, to offer free cesarean sections, further preventing the onset of obstetric fistulae.[16]
Promoting education for girls is also a key factor to preventing fistulae in the long term. Former fistula patients often act as "community fistula advocates" or "ambassadors of hope," a UNFPA-sponsored initiative, to educate the community.[51] These survivors help current patients, educate pregnant mothers, and dispel cultural myths that obstetric fistulae are caused by adultery or evil spirits.[38][52][53] Successful ambassador programs are in place in Kenya, Bangladesh, Nigeria, Ghana, Côte d'Ivoire, and Liberia.[16]
Several organizations have developed effective fistula prevention strategies. One, the Tanzanian Midwives Association, works to prevent fistulae by improving clinical healthcare for women, encouraging the delay of early marriages and childbearing years, and helping the local communities to advocate for women's rights.[54]
## Treatment[edit]
Patients at the Addis Ababa Fistula Hospital in Ethiopia are all treated free of charge.
### Surgery[edit]
The nature of the injury varies depending on the size and location of the fistula, so a surgeon with experience is needed to improvise on the spot.[55] Before the person undergoes surgery, treatment and evaluation are needed for conditions including anemia, malnutrition, and malaria. Quality treatment in low-resource settings are possible (as in the cases of Nigeria and Ethiopia).[17]
Treatment is available through reconstructive surgery.[56] Primary fistula repair has a 91% success rate.[48] The corrective surgery costs about US$100 – 400,[57] and the cost for the entire procedure, which includes the actual surgery, postoperative care, and rehabilitation support, is estimated to cost $300–450. Initial surgeries done by inadequately trained doctors and midwives increase the number of follow-up surgeries that must be performed to restore full continence.[48] Successful surgery enables women to live normal lives and have more children, but it is recommended to have a cesarean section to prevent the fistula from recurring. Postoperative care is vital to prevent infection. Some women are not candidates for this surgery due to other health problems. In those cases, fecal diversion can help the patient, but not necessarily cure them.[58]
Besides physical treatment, mental health services are also needed to rehabilitate fistula patients, who experience psychological trauma from being ostracized by the community and from fear of developing fistulae again. A study on the first formal counseling program for fistula survivors in Eritrea shows positive results, whereby counseling significantly improved the women's self-esteem, knowledge about fistulae and fistula prevention, and behavioral intentions for "health maintenance and social reintegration" following surgery.[59]
### Challenges[edit]
Challenges with regards to treatment include the very high number of women needing reconstructive surgery, access to facilities and trained surgeons, and the cost of treatment. For many women, US$300 is a price they cannot afford. Access and availability of treatment also vary widely across different sub-Saharan countries. Certain regions also do not have enough maternal care clinics that are equipped, willing to treat fistula patients, and adequately staffed. At the Evangelical Hospital of Bemberéke in Benin, only one expatriate volunteer obstetrics and gynecology doctor is available a few months per year, with one certified nurse and seven informal hospital workers.[60] In all of Niger, two medical centers treat fistula patients.[48] In Nigeria, more dedicated health professionals operate on up to 1,600 women with a fistula per year.[61] The world is currently severely under capacity for treating the problem; it would take up to 400 years to treat the backlog of patients.[19] To prevent any new cases of obstetric fistulae, about 75,000 new emergency obstetric care facilities would have to be built in Africa alone,[62] plus an increase in financial support and an even higher number of certified doctors, midwives, and nurses needed.
Another challenge standing between women and fistula treatment is information. Most women have no idea that treatment is available. Because this is a condition of shame and embarrassment, most women hide themselves and their condition and suffer in silence. In addition, after receiving initial treatment, health education is important to prevent fistulae in subsequent pregnancies.[17]
Another challenge is the lack of trained professionals to provide surgery for fistula patients. As a result, nonphysicians are sometimes trained to provide obstetric services. For example, the Addis Ababa Fistula Hospital has medical staff without formal degrees, and one of its top surgeons was illiterate, but she had been trained over years and now regularly successfully performs fistula surgery.[47]
### Catheterization[edit]
Fistula cases can also be treated through urethral catheterization if identified early enough. The Foley catheter is recommended because it has a balloon to hold it in place. The indwelling Foley catheter drains urine from the bladder. This decompresses the bladder wall so that the wounded edges come together and stay together, giving it a greater chance of closing naturally, at least in the smaller fistulae.[citation needed]
About 37% of obstetric fistulae that are treated within 75 days after birth with a Foley catheter resolve. Even without preselecting the least complicated obstetric fistula cases, a Foley catheter by midwives after the onset of urinary incontinence could treat over 25% of all new fistulae.[62]
## Epidemiology[edit]
Obstetric fistulae are common in the developing world, especially in sub-Saharan Africa (Kenya,[63] Mali, Niger,[48] Nigeria, Rwanda, Sierra Leone, South Africa, Benin, Chad, Malawi, Mali, Mozambique, Niger, Nigeria, Uganda, and Zambia) and much of South Asia (Afghanistan, Bangladesh, India, Pakistan, and Nepal). According to the World Health Organization (WHO), an estimated 50,000 to 100,000 women develop obstetric fistulae each year and over two million women currently live with an obstetric fistula.[64] In particular, most of the two million-plus women in developing nations who suffer from obstetric fistulae are under the age of 30.[48] Between 50 and 80% of women under the age of 20 in poor countries develop obstetric fistulae (the youngest patients are 12–13 years old).[46] Other estimates indicate about 73,000 new cases occur per year.[65]
Obstetric fistulae were very common throughout the world, but since the late 19th century, the rise of gynecology developed safe practices for childbirth, including giving birth at local hospitals rather than at home, which dramatically reduced rates of obstructed labor and obstetric fistulae in Europe and North America.[48][66]
Adequate population-based epidemiological data on obstetric fistulae are lacking due to the historic neglect of this condition since it was mostly eradicated in developed nations. Available data are estimations that should be viewed with caution.[17] About 30% of women over age 45 in developed nations are affected by urinary incontinence.[48] The rate of obstetrical fistulae is much lower in places that discourage early marriage, encourage and provide general education for women, and grant women access to family planning and skilled medical teams to assist during childbirth.[60]
## History[edit]
Evidence of Obstetric Fistula goes all the way back to 2050 BCE when Queen Henhenit obtained a fistula.
The first acknowledgments to the Obtetric Fistula date back to various Egyptian documents known as the papyri. These documents, including rare medical engravings, were found of the entrance of a tomb located in the necropolis of Saqquarah, Egypt. The tomb belonged to an unknown physician who lived during the 6th dynasty. The translation of this document became possible with the discovery of the Rosetta stone in 1799.[67]
In 1872, the Ebers papyrus was discovered in a mummy from the Theban acropolis. This papyrus is 65 feet long, 14 inches wide, consisting of 108 columns each about 20 lines, now resides in the library at the University of Leipzig. The gynecological reference in this papyrus addresses uterine prolapse, but at the end of page three, there seems to be a mention of the vesico-vaginal fistula, warning the physician against trying to cure it saying, “prescription for a woman whose urine is in an irksome place: if the urine keeps coming and she distinguishes it, she will be like this forever.” [67] This seems to be the oldest reference to vesico-vaginal fistula, one which articulates the storied history of the problem.
James Marion Sims, in 1852 in Alabama, developed an operation for fistula. He worked at the New York Women's Hospital, currently the site of the Waldorf Astoria Hotel in New York City.[67]
## Society and culture[edit]
During most of the 20th century, obstetric fistulae were largely missing from the international global health agenda. This is reflected by the fact that the condition was not included as a topic at the landmark United Nations 1994 International Conference on Population and Development (ICPD).[68] The 194-page report from the ICPD does not include any reference to obstetric fistulae. In 2000, eight Millennium Development Goals were adopted after the United Nations Millennium Summit to be achieved by 2015. The fifth goal of improving maternal health is directly related to obstetric fistula. Since 2003, obstetric fistula has been gaining awareness amongst the general public and has received critical attention from UNFPA, who has organized a global "Campaign to End Fistula."[69] New York Times columnist Nicholas Kristof, a Pulitzer Prize–winning writer, wrote several columns in 2003, 2005, and 2006[70] focusing on fistula and particularly treatment provided by Catherine Hamlin at the Fistula Hospital in Ethiopia. In 2007, Fistula Foundation, Engel Entertainment, and a number of other organizations including PBS NOVA released the documentary film, A Walk to Beautiful, which traced the journey of five women from Ethiopia who sought treatment for their obstetric fistulae at the Addis Ababa Fistula Hospital in Ethiopia. The film still airs frequently on PBS in the U.S. and is credited with increasing awareness of obstetric fistulae greatly. Increased public awareness and corresponding political pressure have helped fund the UNFPA's Campaign to End Fistula, and helped motivate the United States Agency for International Development to dramatically increase funding for the prevention and treatment of obstetric fistulae.[citation needed]
Countries that signed the United Nations Millennium Declaration have begun adopting policies and creating task forces to address issues of maternal morbidity and infant mortality, including Tanzania, Democratic Republic of Congo, Sudan, Pakistan, Bangladesh, Burkina Faso, Chad, Mali, Uganda, Eritrea, Niger, and Kenya. Laws to increase the minimum age for marriage have also been enacted in Bangladesh, Nigeria, and Kenya. To monitor these countries and hold them accountable, the UN has developed six "process indicators", a benchmark tool with minimum acceptable levels that measures whether or not women receive the services they need.[16]
The UNFPA set out several strategies to address fistulae, including "postponing marriage and pregnancy for young girls, increasing access to education and family planning services for women and men, provide access to adequate medical care for all pregnant women and emergency obstetric care for all who develop complications, and repairing physical damage through medical intervention and emotional damage through counselling."[71] One of the UNFPA's initiatives to reduce the cost of transportation in accessing medical care provided ambulances and motorcycles for women in Benin, Chad, Guinea, Guinea-Bissau, Kenya, Rwanda, Senegal, Tanzania, Uganda, and Zambia.[16]
### Campaign to end fistula[edit]
The Addis Ababa Fistula Hospital in Ethiopia successfully treats women with obstetric fistulae, even in less than desirable environments. As a result, the UNFPA gathered partners in London in 2001, and officially launched an international initiative to address obstetric fistulae later in 2003. Partners in this initiative include Columbia University's Averting Maternal Death and Disability Program, the International Federation of Gynecology and Obstetrics, and the World Health Organization. The official international partnership formed by the Campaign to End Fistula is named the Obstetric Fistula Working Group (OFWG) and its purpose is to coordinate and collaborate global efforts to eliminate obstetric fistulae.[17]
The first thing that the initiative did was to quantitatively assess the issue in countries where the prevalence is suspected to be high, including nine countries in sub-Saharan Africa. The studies found that fistula patients are mostly illiterate, young, and poor women. Moreover, local legislators and government officials' lack of awareness exacerbate the problem.[60][72] The OFWG improves awareness for prenatal and neonatal care and develops strategies for clinically managing obstetric fistula cases.[17]
To date, the Campaign to End Fistula has involved more than 30 countries in sub-Saharan Africa, South Asia, and the Middle East, and completed rapid needs assessments in many of those countries to continually assess the needs in each country. The national strategies that the campaign helps each nation to develop are three-fold: prevention of new cases, treatment for patients, and support for reintegration into society after the operation. Prevention efforts include access to maternal health services and mobilizing communities and legislators to increase awareness of maternal health problems. Training health providers and ensuring affordable treatment services, as well as providing social services such as health education and mental health services, help treat and reintegrate women into their communities. Other tasks undertaken by the campaign include fundraising and introducing new donors and gathering new partners of all perspectives, such as faith-based organizations, NGOs, and private-sector companies.[17]
### Fistula Fortnight[edit]
The Fistula Fortnight was a two-week initiative that took place from February 21 to March 6, 2005, where fistula experts treated fistula patients for free at four surgical camps in the northern Nigerian states of Kano, Katsina, Kebbi, and Sokoto. The initiative was collaborated by many partners such as the federal and state governments of Nigeria, 13 Nigerian fistula surgeons, the Nigerian Red Cross, and UNFPA. During the nine-month preparation period, facilities were renovated, equipment were provided, and staff were extensively trained to treat fistula.[17] The goals of this initiative were to alleviate the backlog of patients waiting for surgery, provide treatment services at host sites, and to raise awareness for maternal health.
The Fistula Fortnight treated 569 women at no cost, with an 87.8% rate of successful closures. Follow-up treatments and services were provided, such as bed rest, analgesics, oral fluids, visual monitoring of urination by nurses, a catheter, catheter removal, and an examination and discharge from the hospital at a minimum of four weeks, with instruction to avoid sexual intercourse. The Fistula Fortnight also had preoperative and postoperative counseling provided by nurses and social workers and held health education workshops for fistula patients and their families.[73]
### Community organizations[edit]
People recovering from a fistula in the postoperative period need support to fully reintegrate into society.[74] In particular, physical labor is limited in the first year of recovery, so women need alternative ways to earn an income.[32] Since poverty is an indirect cause of obstetric fistulae, some community organizations aim to provide postoperative services to enhance the women's socioeconomic situation. Delta Survie, located in Mopti, Mali, is a community center that provides skills training and helps women to produce hand-made jewelry to generate income and meet other women while they recover.[75] Another organization, IAMANEH Suisse, identifies Malian fistula patients, facilitates operations for those without the financial means, and helps them access follow-up services to prevent recurrence of fistulae in their subsequent pregnancies.[76]
Other organizations also help to arrange mission trips for medical personnel to visit countries with women affected by fistulae, perform surgeries, and train local doctors to give medical assistance for fistula patients. The International Organization for Women and Development (IOWD) is one such nonprofit organization. The IOWD hosts four to five mission trips per year to provide relief to obstetric fistula patients in West Africa. IOWD mission trip members have evaluated thousands of patients at no cost and performed surgeries for over a thousand women.[48]
### Treatment centers[edit]
A complete fistula treatment center includes investigative services like laboratory work, radiology, and a blood bank, to ensure that the medical history of patients is clearly understood before treatment options are evaluated.[34] The surgical services would include operating theaters, postoperative wards, and anesthetic services. Physiotherapy and social-reintegration services are also necessary to arm women affected by obstetric fistula with the tools necessary to re-enter a society from which they have been ostracised. The size of the facility should be tailored to the need in the area, and the most successful centers work in collaboration with other treatment centers and organizations, forming a larger network of resources.[77] The cost of salaries, single-use medical equipment, up to date technology and equipment, and maintenance of infrastructure, collectively provide large economic burdens to treatment centers.[34] A barrier also arises when governments and local authorities require that approval be obtained prior to the construction of centers. There is an uneven distribution of specialized health care providers due to the below optimal training and supervision of health works and the low wages of fistula surgeons.[34] Most fistula surgeons come from developed countries and are brought to developing countries, the nations more often affected by fistula, by a variety of organizations. An example of a well functioning treatment center is in Bangladesh where a facility has been created in association with the Dhaka Medical College Hospital with support from the United Nations Population Fund.[77] Here, forty-six doctors and thirty nurses have been trained and have successfully doubled the number of fistula cases addressed and operated on. Another example is a fistula unit in N’djamena, Chad, which has a mobile clinic that travels to rural, hard-to-reach areas, to provide services, and works in association with Liberty Hospital.[78] The World Health Organization has created a manual articulating necessary principles for surgical and pre- and post- operative care regarding obstetric fistula, providing a beneficial outline for affected nations.[79] Treatment centers are crucial for the survival of obstetric fistula patients and well-equipped centers help the emotional, physical, and psychological aspects of their lives.
## See also[edit]
* Double dye test
* Shout Gladi Gladi
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## External links[edit]
* Obstetric fistula at Curlie
* Fistula Care
* Reporting from the Danja Fistula Center, Niger, Nicholas D. Kristof, New York Times, 14 July 2013
Classification
D
* ICD-10: N82
* ICD-9-CM: 619
* MeSH: D014624
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Obstetric fistula
|
c0042253
| 25,417 |
wikipedia
|
https://en.wikipedia.org/wiki/Obstetric_fistula
| 2021-01-18T18:34:21 |
{"mesh": ["D014624"], "umls": ["C0042253"], "icd-9": ["619"], "icd-10": ["N82"], "wikidata": ["Q679020"]}
|
## Clinical Features
Benson et al. (1969) described hydroxylysinuria in a 19-year-old man and his 16-year-old sister, both of whom had myoclonic and major motor seizures and were mentally retarded. The parents were related. The clinical features were similar in a patient reported by Parker et al. (1970).
Neuro \- Myoclonic seizures \- Major motor seizures \- Mental retardation Lab \- Hydroxylysinuria 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
|
HYDROXYLYSINURIA
|
c1855986
| 25,418 |
omim
|
https://www.omim.org/entry/236900
| 2019-09-22T16:26:54 |
{"mesh": ["C565502"], "omim": ["236900"], "orphanet": ["79156"], "synonyms": []}
|
Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
## Epidemiology
The incidence of JAE is still unknown but it accounts for approximately 2-3% of patients with adult epilepsy in general, and about 8-10% of patients with genetic generalized epilepsy (GGE). No sex predominance has been observed.
## Clinical description
JAE is characterized by sporadic occurrence of absence seizures (only one or a few absences daily; 100% of cases), frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS; 80%) and sporadic myoclonic jerks (20%). The seizures onset is typically between 9 and 13 years of age and it manifests as a ''staring spell'' that can be accompanied by atonic postures such as drooping of the head and/or automatisms such as lip smacking. GTCS and myoclonic seizures often occur 1-10 years after the absence seizure onset. Patients with JAE usually develop normally, although uncontrolled absence seizures may have an impact on their ability to learn at school.
## Etiology
The exact etiology of JAE is still elusive. However, genetic mutations for voltage-gated sodium channels (CACNB4 gene (2q22-q23)), potassium channels (CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a subset of patients. Moreover, different mutations have been found in genes for GABA receptors (ligand ion channels), specifically in the GABRA1 gene (5q34).
## Diagnostic methods
Diagnosis relies on the clinical features and on electroencephalogram (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes.
## Differential diagnosis
Differential diagnosis includes childhood absence epilepsy, juvenile myoclonic epilepsy, Jeavons syndrome (see these terms).
## Genetic counseling
The transmission is still unknown although an increased risk for first degree related parents to develop JME may exist.
## Management and treatment
The antiepileptic drugs of choice are valproic acid (VPA) and lamotrigine (LTG). In cases where VPA deals with only partial seizure control, add-on of LTG (GTCS) or ethosuximide (absence seizures) can be beneficial.
## Prognosis
Prognosis of JAE is usually favorable with good therapy responsiveness. Generally, seizure freedom can be achieved with antiepileptic medication in 62-84% of all patients with JAE. However, the occurrence of GTCS predicts a worse prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Juvenile absence epilepsy
|
c2750892
| 25,419 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1941
| 2021-01-23T18:34:33 |
{"gard": ["2162"], "mesh": ["C535495"], "omim": ["607631"], "umls": ["C2930918"], "icd-10": ["G40.3"], "synonyms": ["JAE"]}
|
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 (266600).
Mapping
Satsangi et al. (1996) undertook a systematic screening of the entire genome for identification of susceptibility genes in inflammatory bowel disease involving 186 affected sib pairs from 160 nuclear families. They provided strong evidence for the presence of susceptibility loci for both Crohn disease and ulcerative colitis on chromosomes 3, 7, and 12. Confirmation and fine mapping of a chromosome 3p susceptibility locus in inflammatory bowel disease was provided by Hampe et al. (2001).
Duerr et al. (2002) utilized the transmission/disequilibrium test on a Crohn disease genome scan dataset to detect an IBD locus on chromosome 3p26 (nominal P = 0.000052 and genomewide corrected P = 0.039 at D3S1297). An allele-sharing method showed significant linkage (multipoint lod = 3.69) in a larger, independent sample of IBD-affected sib pairs. A survey of 16 chromosome 3p26 short tandem repeat polymorphisms in a combined sample of 234 independent nuclear families (with 324 IBD-affected sib pairs) showed significant linkage to chromosome 3p26 (multipoint lod = 3.78) and significant transmission/disequilibrium test results at 2 adjacent markers. There was highly significant under-transmission of a common allele and modest over-transmission of other alleles at both markers. Families with no transmission to affected individuals of the under-transmitted alleles showed linkage (multipoint lod = 4.50) that was significantly greater in 4 simulation studies (P less than 0.0001) than the linkage evidence in families with transmission of the under-transmitted alleles (multipoint lod = 0.12).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
INFLAMMATORY BOWEL DISEASE 9
|
c1838019
| 25,420 |
omim
|
https://www.omim.org/entry/608448
| 2019-09-22T16:07:53 |
{"mesh": ["C563926"], "omim": ["608448"]}
|
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.
## Epidemiology
The prevalence is unknown but it has been reported in 22 individuals from ten families to date.
## Clinical description
The main clinical characteristics of dominant deafness-onychodystrophy (DDOD) syndrome are severe sensorineural hearing loss or deafness and onychodystrophy (small or absent fingernails and toenails, sometimes limited to the nails of the first and fifth digits). Brachydactyly, long, finger-like or tri-phalangeal thumbs as well as conical, hypoplastic teeth or oligodontia have also been reported in several patients. Syndactyly, minor facial dysmorphism (mild hypotelorism, deep set eyes and midface hypoplasia), and epilepsy have been seen in individual cases. Unlike DOORS syndrome, most patients with DDOD follow a normal development and have normal intelligence.
## Etiology
DDOD syndrome is caused, in some cases, by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. It is at present unknown whether there can be genetic heterogeneity or not, as not all known families have been tested.
## Diagnostic methods
Diagnosis is based on the presence of characteristic clinical findings. X-rays of the hands and feet and a brain stem auditory evoked response (BAER) test for hearing loss should be performed. Molecular genetic testing identifying a ATP6V1B2 mutation may confirm the diagnosis but as it is at present uncertain whether DDOD syndrome is genetically heterogeneous, the absence of a mutation will not mean that a diagnosis of DDOD syndrome is incorrect.
## Differential diagnosis
The main differential diagnosis is DOORS syndrome and Coffin-Siris syndrome. The limb anomalies seen in DDOD syndrome can also be found in several other entities including Zimmermann-Laband syndrome, Adams-Oliver syndrome, Temple-Baraitser syndrome and Fontaine Progeroid Syndrome.
## Antenatal diagnosis
Prenatal diagnosis of DDOD syndrome has not been performed to date.
## Genetic counseling
DDOD syndrome is inherited autosomal dominantly so if the clinical diagnosis has been established reliably, genetic counseling is possible. In this case, affected families should be informed that risk of transmission from an affected parent to offspring is 50%.
## Management and treatment
Treatment is supportive and involves special education for the hearing impaired as well as regular follow-up. Corrective surgery is in principle possible for those with syndactyly, although generally not necessary.
## Prognosis
The disease is not life threatening. The main influence on quality of life is hearing loss.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant deafness-onychodystrophy syndrome
|
c2675730
| 25,421 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79499
| 2021-01-23T19:03:17 |
{"gard": ["4732"], "mesh": ["C567274"], "omim": ["124480"], "umls": ["C2675730"], "icd-10": ["Q87.8"], "synonyms": ["Autosomal dominant hearing loss-onychodystrophy syndrome", "DDOD syndrome"]}
|
Langerhans cell histiocytosis
Micrograph showing a Langerhans cell histiocytosis with the characteristic reniform Langerhans cells accompanied by abundant eosinophils. H&E stain.
SpecialtyHematology
Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. Symptoms range from isolated bone lesions to multisystem disease.[1]
Symptoms range from isolated bone lesions to multisystem disease. LCH is part of a group of syndromes called histiocytoses, which are characterized by an abnormal proliferation of histiocytes (an archaic term for activated dendritic cells and macrophages). These diseases are related to other forms of abnormal proliferation of white blood cells, such as leukemias and lymphomas.[citation needed]
The disease has gone by several names, including Hand–Schüller–Christian disease, Abt-Letterer-Siwe disease, Hashimoto-Pritzker disease (a very rare self-limiting variant seen at birth) and histiocytosis X, until it was renamed in 1985 by the Histiocyte Society.[2][1]
## Contents
* 1 Classification
* 1.1 Unifocal
* 1.2 Multifocal unisystem
* 1.3 Multifocal multisystem
* 1.4 Pulmonary Langerhans cell histiocytosis (PLCH)
* 2 Signs and symptoms
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Prevalence
* 8 Culture
* 9 Nomenclature
* 10 References
* 11 External links
## Classification[edit]
Alternative names
Histiocytosis X
Histiocytosis X syndrome
Subordinate terms
Hand-Schüller-Christian disease
Letterer-Siwe disease
Histiocytosis X, unspecified
Eosinophilic Granulomatosis
Langerhans Cell granulomatosis
Langerhans Cell Histiocytosis, Hashimoto-Pritzker Type
Langerhans Cell Histiocytosis of lung
Langerhans Cell Histiocytosis, disseminated (clinical)
Langerhans Cell Histiocytosis, unifocal (clinical)
The disease spectrum results from clonal accumulation and proliferation of cells resembling the epidermal dendritic cells called Langerhans cells, sometimes called dendritic cell histiocytosis. These cells in combination with lymphocytes, eosinophils, and normal histiocytes form typical LCH lesions that can be found in almost any organ.[3] A similar set of diseases has been described in canine histiocytic diseases.
LCH is clinically divided into three groups: unifocal, multifocal unisystem, and multifocal multisystem.[4]
### Unifocal[edit]
Unifocal LCH, also called eosinophilic granuloma (an older term which is now known to be a misnomer), is a disease characterized by an expanding proliferation of Langerhans cells in one organ, where they cause damage called lesions. It typically has no extraskeletal involvement, but rarely a lesion can be found in the skin, lungs, or stomach. It can appear as a single lesion in an organ, up to a large quantity of lesions in one organ. When multiple lesions are scattered throughout an organ, it can be called a multifocal unisystem variety. When found in the lungs, it should be distinguished from Pulmonary Langerhans cell hystiocytosis—a special category of disease most commonly seen in adult smokers.[5] When found in the skin it is called cutaneous single system Langerhans cell LCH. This version can heal without therapy in some rare cases.[6] This primary bone involvement helps to differentiate eosinophilic granuloma from other forms of Langerhans Cell Histiocytosis (Letterer-Siwe or Hand-Schüller-Christian variant).[7]
### Multifocal unisystem[edit]
Seen mostly in children, multifocal unisystem LCH is characterized by fever, bone lesions and diffuse eruptions, usually on the scalp and in the ear canals. 50% of cases involve the pituitary stalk, often leading to diabetes insipidus. The triad of diabetes insipidus, exophthalmos, and lytic bone lesions is known as the Hand-Schüller-Christian triad. Peak onset is 2–10 years of age.[citation needed]
### Multifocal multisystem[edit]
Multifocal multisystem LCH, also called Letterer-Siwe disease, is an often rapidly progressing disease in which Langerhans Cell cells proliferate in many tissues. It is mostly seen in children under age 2, and the prognosis is poor: even with aggressive chemotherapy, the five-year survival is only 50%.[8]
### Pulmonary Langerhans cell histiocytosis (PLCH)[edit]
Pulmonary Langerhans cell histiocytosis (PLCH) is a unique form of LCH in that it occurs almost exclusively in cigarette smokers. It is now considered a form of smoking-related interstitial lung disease. PLCH develops when an abundance of monoclonal CD1a-positive Langerhans (immature histiocytes) proliferate the bronchioles and alveolar interstitium, and this flood of histiocytes recruits granulocytes like eosinophils and neutrophils and agranulocytes like lymphocytes further destroying bronchioles and the interstitial alveolar space that can cause damage to the lungs.[9] It is hypothesized that bronchiolar destruction in PLCH is first attributed to the special state of Langerhans cells that induce cytotoxic T-cell responses, and this is further supported by research that has shown an abundance of T-cells in early PLCH lesions that are CD4+ and present early activation markers. [10]Some affected people recover completely after they stop smoking, but others develop long-term complications such as pulmonary fibrosis and pulmonary hypertension.[11] PLCH patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.[citation needed]
## Signs and symptoms[edit]
CT scan showing LCH infiltrating peri-orbital tissue (arrowed).
A patient with Hand–Schüller–Christian disease which is a subtype of Langerhans Cell Histiocytosis.
LCH provokes a non-specific inflammatory response, which includes fever, lethargy, and weight loss. Organ involvement can also cause more specific symptoms.
* Bone: The most-frequently seen symptom in both unifocal and multifocal disease is painful bone swelling. The skull is most frequently affected, followed by the long bones of the upper extremities and flat bones. Infiltration in hands and feet is unusual. Osteolytic lesions can lead to pathological fractures.[12]
* Skin: Commonly seen are a rash which varies from scaly erythematous lesions to red papules pronounced in intertriginous areas. Up to 80% of LCH patients have extensive eruptions on the scalp.
* Bone marrow: Pancytopenia with superadded infection usually implies a poor prognosis. Anemia can be due to a number of factors and does not necessarily imply bone marrow infiltration.
* Lymph node: Enlargement of the liver in 20%, spleen in 30% and lymph nodes in 50% of Histiocytosis cases.[13]
* Endocrine glands: Hypothalamic pituitary axis commonly involved.[14] Diabetes insipidus is most common.[15] Anterior pituitary hormone deficiency is usually permanent.[16]
* Lungs: some patients are asymptomatic, diagnosed incidentally because of lung nodules on radiographs; others suffer from chronic cough and shortness of breath.[17]
* Less frequently gastrointestinal tract, central nervous system, and oral cavity.[18]
## Pathophysiology[edit]
The pathogenesis of Langerhans cell histiocytosis (LCH) is a matter of debate. There are ongoing investigations to determine whether LCH is a reactive (non-cancerous) or neoplastic (cancerous) process. Arguments supporting the reactive nature of LCH include the occurrence of spontaneous remissions, the extensive secretion of multiple cytokines by dendritic cells and bystander-cells (a phenomenon known as cytokine storm) in the lesional tissue, favorable prognosis and relatively good survival rate in patients without organ dysfunction or risk organ involvement.[19][20]
On the other hand, the infiltration of organs by monoclonal population of pathologic cells, and the successful treatment of subset of disseminated disease using chemotherapeutic regimens are all consistent with a neoplastic process.[21][22][23] In addition, a demonstration, using X chromosome–linked DNA probes, of LCH as a monoclonal proliferation provided additional support for the neoplastic origin of this disease.[24] While clonality is an important attribute of cancer, its presence does not prove that a proliferative process is neoplastic. Recurrent cytogenetic or genomic abnormalities would also be required to demonstrate convincingly that LCH is a malignancy.
An activating somatic mutation of a proto-oncogene in the Raf family, the BRAF gene, was detected in 35 of 61 (57%) LCH biopsy samples with mutations being more common in patients younger than 10 years (76%) than in patients aged 10 years and older (44%).[25] This study documented the first recurrent mutation in LCH samples. Two independent studies have confirmed this finding.[26][27] Presence of this activating mutation could support the notion to characterize LCH as myeloproliferative disorder.
## Diagnosis[edit]
Micrograph showing Langerhans Cell Histiocytosis. H&E stain.
Diagnosis is confirmed histologically by tissue biopsy. Hematoxylin-eosin stain of biopsy slide will show features of Langerhans Cell e.g. distinct cell margin, pink granular cytoplasm. Presence of Birbeck granules on electron microscopy and immuno-cytochemical features e. g. CD1 positivity are more specific. Initially routine blood tests e.g. full blood count, liver function test, U&Es, bone profile are done to determine disease extent and rule out other causes.[citation needed]
Imaging may be evident in chest X-rays with micronodular and reticular changes of the lungs with cyst formation in advanced cases. MRI and High-resolution CT may show small, cavitated nodules with thin-walled cysts. MRI scan of the brain can show three groups of lesions such as tumourous/granulomatous lesions, nontumourous/granulomatous lesions, and atrophy. Tumourous lesions are usually found in the hypothalamic-pituitary axis with space-occupying lesions with or without calcifications. In non-tumourous lesions, there is a symmetrical hyperintense T2 signal with hypointense or hyperintense T1 signal extending from grey matter into the white matter. In the basal ganglia, MRI shows a hyperintense T1 signal in the globus pallidus.[28]
Assessment of endocrine function and bonemarrow biopsy are also performed when indicated.[citation needed]
* S-100 protein is expressed in a cytoplasmic pattern[29][30]
* peanut agglutinin (PNA) is expressed on the cell surface and perinuclearly[31][32]
* major histocompatibility (MHC) class II is expressed (because histiocytes are macrophages)
* CD1a[29]
* langerin (CD207), a Langerhans Cell–restricted protein that induces the formation of Birbeck granules and is constitutively associated with them, is a highly specific marker.[33][34]
## Treatment[edit]
Guidelines for management of patients up to 18 years with Langerhans cell histiocytosis have been suggested.[35][36][37][38] Treatment is guided by extent of disease. Solitary bone lesion may be amenable through excision or limited radiation, dosage of 5-10 Gy for children, 24-30 Gy for adults. However systemic diseases often require chemotherapy. Use of systemic steroid is common, singly or adjunct to chemotherapy. Local steroid cream is applied to skin lesions. Endocrine deficiency often require lifelong supplement e.g. desmopressin for diabetes insipidus which can be applied as nasal drop. Chemotherapeutic agents such as alkylating agents, antimetabolites, vinca alkaloids either singly or in combination can lead to complete remission in diffuse disease.[citation needed]
## Prognosis[edit]
Excellent for single-focus disease. With multi-focal disease 60% have a chronic course, 30% achieve remission and mortality is up to 10%.[39]
## Prevalence[edit]
LCH usually affects children between 1 and 15 years old, with a peak incidence between 5 and 10 years of age. Among children under the age of 10, yearly incidence is thought to be 1 in 200,000;[40] and in adults even rarer, in about 1 in 560,000.[41] It has been reported in elderly but is vanishingly rare.[42] It is most prevalent in Caucasians, and affects males twice as often as females.[43] In other populations too the prevalence in males is slightly more than in females.[44]
LCH is usually a sporadic and non-hereditary condition but familial clustering has been noted in limited number of cases. Hashimoto-Pritzker disease is a congenital self-healing variant of Hand-Schüller-Christian disease.[45]
## Culture[edit]
In the 10th episode of season 3 of House entitled "Merry Little Christmas", the primary patient is a girl with dwarfism who has a variety of symptoms, who is ultimately diagnosed with Langerhans cell histiocytosis.[46]Also in the 5th episode, season 1 of "The Good Doctor", Dr. Murphy tries to diagnose Langerhans cell histiocytosis in a boy with a previously diagnosed osteosarcoma.[citation needed]In an episode of Mystery Diagnosis, "The Woman Who Saw Pink", Brooke Rohrer has experiencing symptoms of abdominal pain, was diagnosed with Langerhans cell histiocytosis.[citation needed]
## Nomenclature[edit]
Langerhans cell histiocytosis is occasionally misspelled as "Langerhan" or "Langerhan's" cell histiocytosis, even in authoritative textbooks. The name, however, originates back to its discoverer, Paul Langerhans.[47]
## References[edit]
1. ^ a b "Langerhans Cell Histiocytosis". NORD (National Organization for Rare Disorders). Retrieved 5 December 2020.
2. ^ The Writing Group of the Histiocyte Society (1987). "Histiocytosis syndromes in children. Writing Group of the Histiocyte Society". Lancet. 1 (8526): 208–9. doi:10.1016/S0140-6736(87)90016-X. PMID 2880029. S2CID 54351490.(subscription required)
3. ^ Makras P, Papadogias D, Kontogeorgos G, Piaditis G, Kaltsas G (2005). "Spontaneous gonadotrophin deficiency recovery in an adult patient with Langerhans cell Histiocytosis (LCH)". Pituitary. 8 (2): 169–74. doi:10.1007/s11102-005-4537-z. PMID 16379033. S2CID 7878051.
4. ^ Cotran, Ramzi S.; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Robbins, Stanley L. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. pp. 701–. ISBN 978-0-8089-2302-2.
5. ^ Kumar, Vinay; Abbas, Abul; Aster, Jon (2015). Robbins and Cotran Pathologic Basis of Disease (9th ed.). Philadelphia, PA: Elsevier. p. 622. ISBN 978-1-4557-2613-4.
6. ^ Afsar, Fatma Sule; Ergin, Malik; Ozek, Gulcihan; Vergin, Canan; Karakuzu, Ali; Seremet, Sila (2017). "Histiocitose de Células de Langerhans Autolimitada e de Início Tardio: Relato de Uma Entidade Raríssima". Revista Paulista de Pediatria. 35 (1): 115–119. doi:10.1590/1984-0462/;2017;35;1;00015. ISSN 0103-0582. PMC 5417814. PMID 28977321.
7. ^ Ladisch, Stephan (2011). "Histiocytosis Syndromes of Childhood". In Kliegman, Robert M.; Stanton, Bonita F.; St. Geme, Joseph; Schor, Nina; Behrman, Richard E. (eds.). Nelson Textbook of Pediatrics (19th ed.). Saunders. pp. 1773–7. ISBN 978-1-4377-0755-7.
8. ^ Langerhans Cell Histiocytosis at eMedicine
9. ^ Juvet, Stephan. "Rare lung diseases III: Pulmonary Langerhans' cell histiocytosis". PubMed Central. Canadian Respiratory Journal.
10. ^ Tazi, A. "Adult pulmonary Langerhans' cell histiocytosis". European Respiratory Journal. European Respiratory Journal.
11. ^ Juvet, Stephen C; Hwang, David; Downey, Gregory P (2010). "Rare lung diseases III: pulmonary Langerhans' cell histiocytosis". Canadian Respiratory Journal. 17 (3): e55–62. doi:10.1155/2010/216240. PMC 2900147. PMID 20617216.
12. ^ Stull, MA; Kransdorf, MJ; Devaney, KO (July 1992). "Langerhans cell histiocytosis of bone". Radiographics. 12 (4): 801–23. doi:10.1148/radiographics.12.4.1636041. PMID 1636041.
13. ^ "Langerhans Cell Histiocytosis - Patient UK". Retrieved 2007-05-10.
14. ^ Kaltsas, GA; Powles, TB; Evanson, J; Plowman, PN; Drinkwater, JE; Jenkins, PJ; Monson, JP; Besser, GM; Grossman, AB (April 2000). "Hypothalamo-pituitary abnormalities in adult patients with langerhans cell histiocytosis: clinical, endocrinological, and radiological features and response to treatment". The Journal of Clinical Endocrinology and Metabolism. 85 (4): 1370–6. doi:10.1210/jcem.85.4.6501. PMID 10770168.
15. ^ Grois, N; Pötschger, U; Prosch, H; Minkov, M; Arico, M; Braier, J; Henter, JI; Janka-Schaub, G; Ladisch, S; Ritter, J; Steiner, M; Unger, E; Gadner, H; DALHX- and LCH I and II Study, Committee (February 2006). "Risk factors for diabetes insipidus in langerhans cell histiocytosis". Pediatric Blood & Cancer. 46 (2): 228–33. doi:10.1002/pbc.20425. PMID 16047354.
16. ^ Broadbent, V; Dunger, DB; Yeomans, E; Kendall, B (1993). "Anterior pituitary function and computed tomography/magnetic resonance imaging in patients with Langerhans cell histiocytosis and diabetes insipidus". Medical and Pediatric Oncology. 21 (9): 649–54. doi:10.1002/mpo.2950210908. PMID 8412998.
17. ^ Sholl, LM; Hornick, JL; Pinkus, JL; Pinkus, GS; Padera, RF (June 2007). "Immunohistochemical analysis of langerin in langerhans cell histiocytosis and pulmonary inflammatory and infectious diseases". The American Journal of Surgical Pathology. 31 (6): 947–52. doi:10.1097/01.pas.0000249443.82971.bb. PMID 17527085. S2CID 19702745.
18. ^ Cisternino A, Asa'ad F, Fusco N, Ferrero S, Rasperini G (Oct 2015). "Role of multidisciplinary approach in a case of Langerhans cell histiocytosis with initial periodontal manifestations". Int J Clin Exp Pathol. 8 (10): 13539–45. PMC 4680515. PMID 26722570.
19. ^ Broadbent, V.; Davies, E.G.; Heaf, D.; Pincott, J.R.; Pritchard, J.; Levinsky, R.J.; Atherton, D.J.; Tucker, S. (1984). "Spontaneous remission of multi-system histiocytosis X". Lancet. 1 (8371): 253–4. doi:10.1016/S0140-6736(84)90127-2. PMID 6142997. S2CID 46217705.
20. ^ Filippi, Paola; De Badulli, Carla; Cuccia, Mariaclara; Silvestri, Annalisa; De Dametto, Ennia; Pasi, Annamaria; Garaventa, Alberto; Prever, Adalberto Brach; del Todesco, Alessandra; Trizzino, Antonino; Danesino, Cesare; Martinetti, Miryam; Arico, Maurizio (2006). "Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis". British Journal of Haematology. 132 (6): 784–7. doi:10.1111/j.1365-2141.2005.05922.x. PMID 16487180.
21. ^ Steen, A.E.; Steen, K.H.; Bauer, R.; Bieber, T. (1 July 2001). "Successful treatment of cutaneous Langerhans cell histiocytosis with low-dose methotrexate". British Journal of Dermatology. 145 (1): 137–140. doi:10.1046/j.1365-2133.2001.04298.x. PMID 11453923.
22. ^ Allen CE, Flores R, Rauch R, Dauser R, Murray JC, Puccetti D, Hsu DA, Sondel P, Hetherington M, Goldman S, McClain KL (2010). "Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside". Pediatr Blood Cancer. 54 (3): 416–23. doi:10.1002/pbc.22326. PMC 3444163. PMID 19908293.
23. ^ Minkov, M.; Grois, N.; Broadbent, V.; Ceci, A.; Jakobson, A.; Ladisch, S. (1 November 1999). "Cyclosporine A therapy for multisystem Langerhans cell histiocytosis". Medical and Pediatric Oncology. 33 (5): 482–485. doi:10.1002/(SICI)1096-911X(199911)33:5<482::AID-MPO8>3.0.CO;2-Y. PMID 10531573.
24. ^ Willman, Cheryl L.; Busque, Lambert; Griffith, Barbara B.; Favara, Blaise E.; McClain, Kenneth L.; Duncan, Marilyn H.; Gilliland, D. Gary (21 July 1994). "Langerhans'-Cell Histiocytosis (Histiocytosis X) -- A Clonal Proliferative Disease". New England Journal of Medicine. 331 (3): 154–160. doi:10.1056/NEJM199407213310303. PMID 8008029.
25. ^ Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ (2010). "Recurrent BRAF mutations in Langerhans cell histiocytosis". Blood. 116 (11): 1919–23. doi:10.1182/blood-2010-04-279083. PMC 3173987. PMID 20519626.
26. ^ Satoh T, Smith A, Sarde A, Lu HC, Mian S, Mian S, Trouillet C, Mufti G, Emile JF, Fraternali F, Donadieu J, Geissmann F (2012). "B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease". PLOS ONE. 7 (4): e33891. Bibcode:2012PLoSO...733891S. doi:10.1371/journal.pone.0033891. PMC 3323620. PMID 22506009.
27. ^ Peters, Tricia L.; Tsz-Kwong Chris Man; Price, Jeremy; George, Renelle; Phaik Har Lim; Kenneth Matthew Heym; Merad, Miriam; McClain, Kenneth L.; Allen, Carl E. (10 December 2011). "1372 Frequent BRAF V600E Mutations Are Identified in CD207+ Cells in LCH Lesions, but BRAF Status does not Correlate with Clinical Presentation of Patients or Transcriptional Profiles of CD207+ Cells". "Oral and Poster Abstracts presented at 53rd ASH Annual Meeting and Exposition" Cite journal requires `|journal=` (help)
28. ^ Monsereenusorn, Chalinee; Rodriguez-Galindo, Carlos (October 2015). "Clinical Characteristics and Treatment of Langerhans Cell Histiocytosis". Hematology/Oncology Clinics of North America. 29 (5): 853–873. doi:10.1016/j.hoc.2015.06.005. PMID 26461147.
29. ^ a b Wilson, AJ; Maddox, PH; Jenkins, D (January 1991). "CD1a and S100 antigen expression in skin Langerhans cells in patients with breast cancer". The Journal of Pathology. 163 (1): 25–30. doi:10.1002/path.1711630106. PMID 2002421.
30. ^ Coppola, D; Fu, L; Nicosia, SV; Kounelis, S; Jones, M (May 1998). "Prognostic significance of p53, bcl-2, vimentin, and S100 protein-positive Langerhans cells in endometrial carcinoma". Human Pathology. 29 (5): 455–62. doi:10.1016/s0046-8177(98)90060-0. PMID 9596268.
31. ^ McLelland, J; Chu, AC (October 1988). "Comparison of peanut agglutinin and S100 stains in the paraffin tissue diagnosis of Langerhans cell histiocytosis". The British Journal of Dermatology. 119 (4): 513–9. doi:10.1111/j.1365-2133.1988.tb03255.x. PMID 2461216.
32. ^ Ye, F; Huang, SW; Dong, HJ (November 1990). "Histiocytosis X. S-100 protein, peanut agglutinin, and transmission electron microscopy study". American Journal of Clinical Pathology. 94 (5): 627–31. doi:10.1093/ajcp/94.5.627. PMID 2239828.
33. ^ Valladeau J, Ravel O, Dezutter-Dambuyant C, Moore K, Kleijmeer M, Liu Y, Duvert-Frances V, Vincent C, Schmitt D, Davoust J, Caux C, Lebecque S, Saeland S (2000). "Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules". Immunity. 12 (1): 71–81. doi:10.1016/S1074-7613(00)80160-0. PMID 10661407.
34. ^ Lau, SK; Chu, PG; Weiss, LM (April 2008). "Immunohistochemical expression of Langerin in Langerhans cell histiocytosis and non-Langerhans cell histiocytic disorders". The American Journal of Surgical Pathology. 32 (4): 615–9. doi:10.1097/PAS.0b013e31815b212b. PMID 18277880. S2CID 40092500.
35. ^ Haupt, Riccardo; Minkov, Milen; Astigarraga, Itziar; Schäfer, Eva; Nanduri, Vasanta; Jubran, Rima; Egeler, R. Maarten; Janka, Gritta; Micic, Dragan; Rodriguez-Galindo, Carlos; Van Gool, Stefaan; Visser, Johannes; Weitzman, Sheila; Donadieu, Jean (February 2013). "Langerhans cell histiocytosis (LCH): Guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years". Pediatric Blood & Cancer. 60 (2): 175–184. doi:10.1002/pbc.24367. PMC 4557042. PMID 23109216.
36. ^ Girschikofsky, Michael; Arico, Maurizio; Castillo, Diego; Chu, Anthony; Doberauer, Claus; Fichter, Joachim; Haroche, Julien; Kaltsas, Gregory A; Makras, Polyzois; Marzano, Angelo V; de Menthon, Mathilde; Micke, Oliver; Passoni, Emanuela; Seegenschmiedt, Heinrich M; Tazi, Abdellatif; McClain, Kenneth L (2013). "Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net". Orphanet Journal of Rare Diseases. 8 (1): 72. doi:10.1186/1750-1172-8-72. PMC 3667012. PMID 23672541.
37. ^ "Langerhans cell histiocytosis - Histiocyte Society Evaluation and Treatment Guidelines". April 2009. Cite journal requires `|journal=` (help)
38. ^ "Langerhans Cell Histiocytosis Treatment (PDQ®)". Cite journal requires `|journal=` (help) and 1
39. ^ Komp D, El Mahdi A, Starling K, Easley J, Vietti T, Berry D, George S (1980). "Quality of survival in Histiocytosis X: a Southwest Oncology Group study". Med. Pediatr. Oncol. 8 (1): 35–40. doi:10.1002/mpo.2950080106. PMID 6969347.
40. ^ "MedlinePlus Medical Encyclopedia: Histiocytosis". Retrieved 2007-05-10.
41. ^ "Histiocytosis Association of Canada". Archived from the original on 2007-05-14. Retrieved 2007-05-16.
42. ^ Gerlach, Beatrice; Stein, Annette; Fischer, Rainer; Wozel, Gottfried; Dittert, Dag-Daniel; Richter, Gerhard (1998). "Langerhanszell-Histiozytose im Alter" [Langerhans cell histiocytosis in the elderly]. Der Hautarzt (in German). 49 (1): 23–30. doi:10.1007/s001050050696. PMID 9522189. S2CID 20706403.
43. ^ Sellari-Franceschini, S.; Forli, F.; Pierini, S.; Favre, C.; Berrettini, S.; Macchia, P.A. (1999). "Langerhans' cells histiocytosis: a case report". International Journal of Pediatric Otorhinolaryngology. 48 (1): 83–7. doi:10.1016/S0165-5876(99)00013-0. PMID 10365975.
44. ^ Aricò, M.; Girschikofsky, M.; Généreau, T.; Klersy, C.; McClain, K.; Grois, N.; Emile, J.-F.; Lukina, E.; De Juli, E.; Danesino, C. (2003). "Langerhans cell histiocytosis in adults: Report from the International Registry of the Histiocyte Society". European Journal of Cancer. 39 (16): 2341–8. doi:10.1016/S0959-8049(03)00672-5. PMID 14556926.
45. ^ Kapur, Payal; Erickson, Christof; Rakheja, Dinesh; Carder, K. Robin; Hoang, Mai P. (2007). "Congenital self-healing reticulohistiocytosis (Hashimoto-Pritzker disease): Ten-year experience at Dallas Children's Medical Center". Journal of the American Academy of Dermatology. 56 (2): 290–4. doi:10.1016/j.jaad.2006.09.001. PMID 17224372.
46. ^ House (season 3) In CSI, season 15 episode 4, a student has LCH.
47. ^ Jolles, S. (April 2002). "Paul Langerhans". Journal of Clinical Pathology. 55 (4): 243. doi:10.1136/jcp.55.4.243. PMC 1769627. PMID 11919207.
## External links[edit]
Classification
D
* ICD-10: C96.5 C96.6
* ICD-9-CM: 202.5, 277.89, 516.5
* ICD-O: M9752/3,M9751/1
* OMIM: 604856
* MeSH: D006646
* DiseasesDB: 5906
* SNOMED CT: 65399007
External resources
* eMedicine: derm/216 article/1100579
* Orphanet: 389
Wikimedia Commons has media related to Langerhans cell histiocytosis.
* v
* t
* e
Histiocytosis
WHO-I/Langerhans cell histiocytosis/
X-type histiocytosis
* Letterer–Siwe disease
* Hand–Schüller–Christian disease
* Eosinophilic granuloma
* Congenital self-healing reticulohistiocytosis
WHO-II/non-Langerhans cell histiocytosis/
Non-X histiocytosis
* Juvenile xanthogranuloma
* Hemophagocytic lymphohistiocytosis
* Erdheim-Chester disease
* Niemann–Pick disease
* Sea-blue histiocyte
* Benign cephalic histiocytosis
* Generalized eruptive histiocytoma
* Xanthoma disseminatum
* Progressive nodular histiocytosis
* Papular xanthoma
* Hereditary progressive mucinous histiocytosis
* Reticulohistiocytosis (Multicentric reticulohistiocytosis, Reticulohistiocytoma)
* Indeterminate cell histiocytosis
WHO-III/malignant histiocytosis
* Histiocytic sarcoma
* Langerhans cell sarcoma
* Interdigitating dendritic cell sarcoma
* Follicular dendritic cell sarcoma
Ungrouped
* Rosai–Dorfman disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Langerhans cell histiocytosis
|
c0023381
| 25,422 |
wikipedia
|
https://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis
| 2021-01-18T18:46:08 |
{"gard": ["6858"], "mesh": ["C538636", "D006646"], "umls": ["C0023381", "C0019621"], "icd-10": ["C96.6"], "orphanet": ["389", "99874"], "wikidata": ["Q374036"]}
|
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Other namesHADH deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during fasting.[1] Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to metabolize fats and convert them to energy. People with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for a step that metabolizes groups of fats called medium chain fatty acids and short chain fatty acids; for this reason this disorder is sometimes called medium- and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (M/SCHAD) deficiency.[citation needed]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, lethargy, hypoglycemia, hypotonia, liver problems, and hyperinsulinism (high levels of insulin). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden unexpected death.
Problems related to 3-hydroxyacyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
## Genetics[edit]
Mutations in the HADH gene lead to inadequate levels of an enzyme called 3-hydroxyacyl-coenzyme A dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized and processed properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, and muscles, causing more serious complications.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
## Diagnosis[edit]
This section is empty. You can help by adding to it. (February 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (February 2017)
## See also[edit]
* Inborn error of lipid metabolism
## References[edit]
1. ^ Reference, Genetics Home. "3-hydroxyacyl-CoA dehydrogenase deficiency". Genetics Home Reference. Retrieved 2017-02-27.
## External links[edit]
Classification
D
* OMIM: 601609 231530
* DiseasesDB: 34396
* v
* t
* e
Inborn error of lipid metabolism: fatty-acid metabolism disorders
Synthesis
* Biotinidase deficiency (BTD)
Degradation
Acyl
transport
* Carnitine
* CPT1
* CPT2
* CDSP
* CACTD
* Adrenoleukodystrophy (ALD)
Beta
oxidation
General
* Acyl CoA dehydrogenase
* Short-chain SCADD
* Medium-chain MCADD
* Long-chain 3-hydroxy LCHAD
* Very long-chain VLCADD
* Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy
Unsaturated
* 2,4 Dienoyl-CoA reductase deficiency (DECRD)
Odd chain
* Propionic acidemia (PCC deficiency)
Other
* 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD)
* Glutaric acidemia type 2 (MADD)
To
acetyl-CoA
* Malonic aciduria (MCD)
Aldehyde
* Sjögren–Larsson syndrome (SLS)
* v
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* e
Medicine
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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
|
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
|
c1291230
| 25,423 |
wikipedia
|
https://en.wikipedia.org/wiki/3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency
| 2021-01-18T18:58:47 |
{"gard": ["9870"], "mesh": ["C535310"], "umls": ["C1291230"], "orphanet": ["309127"], "wikidata": ["Q4634219"]}
|
A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
## Epidemiology
The birth prevalence of tuberous sclerosis complex (TSC) is estimated to be 1/6,000.
## Clinical description
Skin involvement is almost constantly present, beginning as hypomelanotic macules in the first years life and evolving to facial angiofibromas by 3-4 years, followed by ungual fibromas, cephalic and lumbar (shagreen patch) fibrous plaques, and ''confetti'' skin lesions appearing in childhood to early adolescence. Brain involvement includes cortical dysplasias (tubers), subependymal nodules, and/or subependymal giant cell astrocytoma (SEGA), and is seen in almost all cases. SEGA affects 10 to 20% of TSC patients, almost exclusively children and young adults. Early-onset epilepsy (focal seizures and/or infantile spasms) is present in 85% of patients. TSC-Associated Neuropsychiatric Disorders (TAND) include intellectual disability, attention-deficit/hyperactivity disorder, autism spectrum disorders (ASD), psychiatric disorders, neuropsychological deficits, as well as school and occupational difficulties. Renal angiomyolipomas (AML) develop during childhood with a higher risk of growth during adolescence and adulthood and manifest by pain, hematuria/retroperitoneal hemorrhage, abdominal masses, hypertension and renal failure. Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia and pulmonary cysts develop during adulthood and manifest with dyspnea, pneumothorax, or chylothorax. Cardiac rhabdomyomas appear during the fetal period, are rarely symptomatic, and tend to decrease in size in early childhood. Additional features include retinal and liver hamartomas, dental enamel pitting, intraoral fibromas, and skeletal dysplasias.
## Etiology
TSC is due to mutations in either TSC1 (9q34) or TSC2 (16p13.3) which encode proteins that indirectly inhibit the mTOR pathway. In excess, mTOR causes increased cell growth and proliferation, as well as disproportionate glutamate activity leading to disrupted synaptic plasticity. Expressivity of TSC is variable due to mosaicism and to genetic-epigenetic modifiers.
## Diagnostic methods
A definite diagnosis is defined as presence of ≥ 2 major features or 1 major and ≥ 2 minor features. Possible TSC is considered in the presence of 1 major or ≥ 2 minor features. The identification of a pathogenic variant, confirms the diagnosis regardless of the clinical findings.
## Differential diagnosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis is seen in up to 5% of patients presenting with TSC and should be excluded. Other differential diagnoses include vitiligo, Ito hypomelanosis, acne, skin rash, cardiac myxoma, isolated brain tumors, pulmonary emphysema, and kidney cysts.
## Antenatal diagnosis
Cardiac rhabdomyomas, cortical tubers and/or subependymal lesions may be detected by fetal MRI or ultrasound. Prenatal mutational analysis is also possible.
## Genetic counseling
The disorder is autosomal dominant; however, two thirds of cases are the result of a de novo pathogenic variant. In one third of cases, TSC is inherited from one of the parents and, in such cases, genetic counseling is recommended to inform the parents that the risk of having an affected child is 50% for each pregnancy.
## Management and treatment
Management is multidisciplinary and includes frequent clinical follow-up as well as treatment of epilepsy, tumors, and TAND. Early referral to a specialized pediatric epilepsy center is strongly recommended. Epilepsy treatment includes the use of vigabatrin (GABA transaminase inhibitor) for infantile spasms and early onset focal seizures. For pre-symptomatic infants, video electroencephalogram monitoring is recommended to identify subtle or electrographic seizures. If vigabatrin fails, other antiseizure medicine, ketogenic diet, vagal nerve stimulation, or mTOR pathway inhibitor (everolimus) might be helpful. Early identification of candidates for epilepsy surgery is highly recommended. The developing tumors require frequent follow-up and can be treated with mTOR inhibitors or surgery.
## Prognosis
TSC is a chronic, life-long condition. As patients transition into adulthood, seizures may persist; renal and/or pulmonary issues may become more frequent and clinically significant.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tuberous sclerosis complex
|
c0041341
| 25,424 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=805
| 2021-01-23T18:40:33 |
{"gard": ["7830", "946"], "mesh": ["D014402"], "omim": ["191100", "613254"], "umls": ["C0041341"], "icd-10": ["Q85.1"], "synonyms": ["Bourneville syndrome", "Tuberous sclerosis"]}
|
Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Severe dermatitis-multiple allergies-metabolic wasting syndrome
|
c3809719
| 25,425 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369992
| 2021-01-23T17:34:11 |
{"omim": ["615508"], "icd-10": ["Q82.8"], "synonyms": ["Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome", "SAM syndrome"]}
|
A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
## Epidemiology
Prevalence at birth for EEC is reported at 1/10,000. Epispadias (E), classic bladder exstrophy (CEB) and EC are recognized clinical variants of the same spectrum, so accurate epidemiological data on E/EC/CEB are no longer available. The male-to-female ratio varies between studies; male or female predominance and a sex ratio close to unity have been described.
## Clinical description
Patients present at birth with two exstrophied hemibladders separated by a foreshortened hindgut (often blind-ending resulting in an imperforate anus) or cecum. Omphalocele is found in 88-100% of patients and gastrointestinal (GI) malrotation/duplication and short bowel syndrome (see this term) are present in 46%, with absorptive dysfunction in some cases. The symphysis pubis is widely separated and the pelvis is often asymmetrically shaped. The genitalia, e.g. the penile or clitoral halves, can be located separately on either side of the bladder plates with the adjacent scrotal or labial part. Duplication of the vagina and uterus, as well as vaginal agenesis, has also been reported. Various urological malformations (ureteropelvic junction obstruction, ectopic pelvic kidney, horseshoe kidney, renal hypo- or agenesis, megaureter, ureteral ectopy and ureterocele) may also be present. Spinal abnormalities ranging from hemivertebra to myelomeningocele occur in all patients and may be accompanied by skeletal and limb anomalies (clubfoot deformities, absence of feet, tibial/fibular deformities, and hip dislocation).
## Etiology
EC results from an anomaly during early embryologic development associated with rupture of the cloacal membrane before fusion with the urorectal septum. The underlying cause remains unknown: genetic and environmental factors are likely to play a role.
## Diagnostic methods
Diagnosis is evident at birth but spinal ultrasound and radiographs, MRI and urogenital ultrasound are recommended to determine the nature and extent of the malformations, with laboratory tests to detect electrolyte losses from the terminal ileum.
## Antenatal diagnosis
Prenatal diagnosis is possible from ultrasound findings (non-visualization of the bladder, anterior wall defects, omphalocele and myelomeningocele are major criteria). Prenatal diagnosis should lead to parental counseling to provide information on the nature of the malformation and the extent of surgical reconstruction required. However, termination of pregnancy should not be automatically indicated.
## Management and treatment
Patients require immediate postnatal multidisciplinary care followed by surgical management, usually beginning in the newborn period with immediate closure of the meningocele and omphalocele as well as adaptation of bladder halves. Later, a multistage approach for bladder and bowel reconstruction is used, including a mandatory osteotomy due to severe pelvic asymmetry and the large ventral defect. The main aims of management are secure abdominal wall closure, prevention of short bowel syndrome, urinary and fecal continence, preserved renal function, and adequate cosmetic and functional genital reconstruction. Multiple associated anomalies have to be considered to achieve successful reconstruction.
## Prognosis
Surgical advances and improved neonatal care have led to a dramatic increase in survival rates and improvements in continence rates and therefore quality of life. However, patients require life-long follow up, including psychosocial and psychosexual aspects, from a multidisciplinary team of experts.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cloacal exstrophy
|
c0345217
| 25,426 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93929
| 2021-01-23T18:17:33 |
{"gard": ["4080"], "omim": ["258040"], "umls": ["C0345217", "C1850321"], "icd-10": ["Q64.1"], "synonyms": ["OEIS complex", "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"]}
|
Sakoda et al. (1979) reported an infant boy with sphenoethmoidal meningoencephalocele associated with agenesis of the corpus callosum (ACC) and median cleft lip and palate. The authors suggested that this combination represented a distinct type of congenital anomaly.
Ehara et al. (1998) reported a Japanese male infant with sphenoethmoidal encephalomeningocele (SEEM), agenesis of the corpus callosum, and cleft lip and palate, consistent with Sakoda complex. In addition, however, the patient had also had intractable seizures, bilateral anophthalmia, facial dysmorphism, severe mental retardation, short stature, hemivertebrae, and scoliosis. Brain imaging showed hypoplasia of the left cerebral hemisphere and cortical dysgenesis. In a review of the literature, Ehara et al. (1998) classified 21 similar patients into 4 groups: (1) basal encephalomeningocele associated with ACC; (2) Sakoda complex (SEEM, ACC, and cleft lip/palate); (3) Sakoda complex with optic dysplasia, including the morning glory optic anomaly; and (4) Sakoda complex with bilateral anophthalmia, cortical dysgenesis, mental retardation, and severe epilepsy. These findings suggested a phenotypic spectrum in which the patient reported by Ehara et al. (1998) represented the most severe end.
Dempsey et al. (2007) reported 2 unrelated male infants with features reminiscent of the Sakoda complex. The first patient had right microphthalmia, dysmorphic facies, basal encephalocele, cleft palate, partial agenesis of the corpus callosum, and bilateral optic nerve hypoplasia. Other features included hemivertebrae, severe epilepsy, atrial septal defect, and mild kidney anomalies. The second infant had sphenoethmoidal encephalocele and absence of the right orbital structures and right cerebral hemispheric structures. He also had a bifid thumb. Although several authors have described an association between basal encephalocele and the morning glory optic anomaly (see, e.g., Koenig et al., 1982 and Itakura et al., 1992), Dempsey et al. (2007) noted that their patients did not have the morning glory disc anomaly. However, they suggested that these disorders may have a common genetic etiology.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
SAKODA COMPLEX
|
c1970485
| 25,427 |
omim
|
https://www.omim.org/entry/610871
| 2019-09-22T16:03:56 |
{"mesh": ["C567055"], "omim": ["610871"], "synonyms": ["Alternative titles", "SPHENOETHMOIDAL ENCEPHALOMENINGOCELE, AGENESIS OF THE CORPUS CALLOSUM, AND CLEFT LIP/PALATE"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-66 (DFNA66) is caused by heterozygous mutation in the CD164 gene (603356) on chromosome 6q21. One such family has been reported.
Description
Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset (Nyegaard et al., 2015).
Clinical Features
Nyegaard et al. (2015) reported a multigenerational Dutch family in which many individuals had variable onset and expression of sensorineural hearing loss. Age at onset ranged from newborn, detected through neonatal screening, to the early twenties. Audiograms showed either a flat audiogram affecting all frequencies or a basin shape with the most severe affection in the mid-frequencies. The hearing impairment was stable in some cases and progressive in others. No additional features were present.
Inheritance
The transmission pattern of DFNA66 in the family reported by Nyegaard et al. (2015) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis in a large Dutch family with autosomal dominant deafness, Nyegaard et al. (2015) found linkage to a 2-Mb region on chromosome 6q15-q21 between D6S462 and D6S433 (lod score of 5.1).
Molecular Genetics
In affected members of a large Dutch family with DFNA66, Nyegaard et al. (2015) identified a heterozygous truncating mutation in the CD164 gene (R192X; 603356.0001). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. In vitro functional expression studies showed that the mutation resulted in abnormal intracellular trafficking of the mutant protein; there was no evidence of a dominant-negative effect. Direct sequencing of the CD164 gene in 46 probands with deafness did not reveal any additional mutations.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural MISCELLANEOUS \- Variable age at onset (range newborn to twenties) \- Variable expressivity \- Stable in some patients \- Progressive in some patients \- One Dutch family has been reported (last curated May 2016) MOLECULAR BASIS \- Caused by mutation in the CD164 antigen gene (CD164, 603356.0001 ) ▲ 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
|
DEAFNESS, AUTOSOMAL DOMINANT 66
|
c4283893
| 25,428 |
omim
|
https://www.omim.org/entry/616969
| 2019-09-22T15:47:25 |
{"doid": ["0110587"], "omim": ["616969"], "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"]}
|
"Bluetongue" redirects here. For the lizard, see Blue-tongued lizard.
Bluetongue virus
Electron micrograph of Bluetongue virus, cale bar = 50 nm
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Duplornaviricota
Class: Resentoviricetes
Order: Reovirales
Family: Reoviridae
Genus: Orbivirus
Species:
Bluetongue virus
Bluetongue disease is a noncontagious, insect-borne, viral disease of ruminants, mainly sheep and less frequently cattle,[1] yaks,[2] goats, buffalo, deer, dromedaries, and antelope. It is caused by Bluetongue virus (BTV). The virus is transmitted by the midges Culicoides imicola, Culicoides variipennis, and other culicoids.
## Contents
* 1 Signs
* 2 Microbiology
* 3 Epidemiology
* 3.1 Overwintering
* 4 Treatment and prevention
* 4.1 Livestock management and insect control
* 4.2 Vaccines
* 5 History
* 6 Related diseases
* 7 References
* 8 External links
## Signs[edit]
Infected sheep
A domestic yak infected with Bluetongue virus. Tongue is swollen, cyanotic, and protruding from the mouth.
In sheep, BTV causes an acute disease with high morbidity and mortality. BTV also infects goats, cattle and other domestic animals as well as wild ruminants (for example, blesbuck, white-tailed deer, elk, and pronghorn antelope).[3]
Major signs are high fever, excessive salivation, swelling of the face and tongue and cyanosis of the tongue. Swelling of the lips and tongue gives the tongue its typical blue appearance, though this sign is confined to a minority of the animals. Nasal signs may be prominent, with nasal discharge and stertorous respiration.
Some animals also develop foot lesions, beginning with coronitis, with consequent lameness. In sheep, this can lead to knee-walking. In cattle, constant changing of position of the feet gives bluetongue the nickname The Dancing Disease.[4] Torsion of the neck (opisthotonos or torticollis) is observed in severely affected animals.
Not all animals develop signs, but all those that do lose condition rapidly, and the sickest die within a week. For affected animals which do not die, recovery is very slow, lasting several months.
The incubation period is 5–20 days, and all signs usually develop within a month. The mortality rate is normally low, but it is high in susceptible breeds of sheep. In Africa, local breeds of sheep may have no mortality, but in imported breeds it may be up to 90 percent.[5]
In cattle, goats and wild ruminants infection is usually asymptomatic despite high virus levels in blood. Red deer are an exception, and in them the disease may be as acute as in sheep.[6]
## Microbiology[edit]
Bluetongue is caused by the pathogenic virus, Bluetongue virus (BTV),[3] of the genus Orbivirus, of the Reoviridae family. Twenty-six serotypes are now recognised for this virus.[7]
The virus particle consists of ten strands of double-stranded RNA surrounded by two protein shells. Unlike other arboviruses, BTV lacks a lipid envelope. The particle has a diameter of 86 nm.[8] The structure of the 70 nm core was determined in 1998 and was at the time the largest atomic structure to be solved.[9]
The two outer capsid proteins, VP2 and VP5, mediate attachment and penetration of BTV into the target cell. The virus makes initial contact with the cell with VP2, triggering receptor-mediated endocytosis of the virus. The low pH within the endosome then triggers BTV's membrane penetration protein VP5 to undergo a conformational change that disrupts the endosomal membrane.[8] Uncoating yields a transcriptionally active 470S core particle which is composed of two major proteins VP7 and VP3, and the three minor proteins VP1, VP4 and VP6 in addition to the dsRNA genome. There is no evidence that any trace of the outer capsid remains associated with these cores, as has been described for reovirus. The cores may be further uncoated to form 390S subcore particles that lack VP7, also in contrast to reovirus. Subviral particles are probably akin to cores derived in vitro from virions by physical or proteolytic treatments that remove the outer capsid and causes activation of the BTV transcriptase. In addition to the seven structural proteins, three non-structural (NS) proteins, NS1, NS2, NS3 (and a related NS3A) are synthesised in BTV-infected cells. Of these, NS3/NS3A is involved in the egress of the progeny virus. The two remaining non-structural proteins, NS1 and NS2, are produced at high levels in the cytoplasm and are believed to be involved in virus replication, assembly and morphogenesis.[3]
## Epidemiology[edit]
The molecular epidemiology of Bluetongue virus in Europe since 1998: routes of introduction of different serotypes and individual virus strains
Bluetongue has been observed in Australia, the US, Africa, the Middle East, Asia, and Europe. An outline of the transmission cycle of BTV is illustrated in article Parasitic flies of domestic animals.
Its occurrence is seasonal in the affected Mediterranean countries, subsiding when temperatures drop and hard frosts kill the adult midge vectors.[10] Viral survival and vector longevity is seen during milder winters.[11] A significant contribution to the northward spread of bluetongue disease has been the ability of C. obsoletus and C.pulicaris to acquire and transmit the pathogen, both of which are spread widely throughout Europe. This is in contrast to the original C.imicola vector, which is limited to North Africa and the Mediterranean. The relatively recent novel vector has facilitated a far more rapid spread than the simple expansion of habitats north through global warming.[12]
In August 2006, cases of bluetongue were found in the Netherlands, then Belgium, Germany, and Luxembourg.[13][14] In 2007, the first case of bluetongue in the Czech Republic was detected in one bull near Cheb at the Czech-German border.[15] In September 2007, the UK reported its first ever suspected case of the disease, in a Highland cow on a rare-breeds farm near Ipswich, Suffolk.[16] Since then, the virus has spread from cattle to sheep in Britain.[17] By October 2007, bluetongue had become a serious threat in Scandinavia and Switzerland[18] and the first outbreak in Denmark was reported.[19] In autumn 2008, several cases were reported in the southern Swedish provinces of Småland, Halland, and Skåne,[20] as well as in areas of the Netherlands bordering Germany, prompting veterinary authorities in Germany to intensify controls.[21] Norway had its first finding in February 2009, when cows at two farms in Vest-Agder in the south of Norway showed an immune response to bluetongue.[22] Norway have since been declared free of the disease in 2011.
Although the disease is not a threat to humans, the most vulnerable common domestic ruminants in the UK are cattle, goats, and especially, sheep.
### Overwintering[edit]
A puzzling aspect of BTV is its survival between midge seasons in temperate regions. Adults of Culicoides are killed by cold winter temperatures, and BTV infections typically do not last for more than 60 days, which is not long enough for BTV to last until the next spring. It is believed that the virus somehow survives in overwintering midges or animals. Multiple mechanisms have been proposed. A few adult Culicoides midges infected with BTV may survive the mild winters of the temperate zone. Some midges may even move indoors to avoid the cold temperature of the winter. Additionally, BTV could cause a chronic or latent infection in some animals, providing another means for BTV to survive the winter. BTV can also be transmitted from mother to fetus. The outcome is abortion or stillbirth if fetal infection occurs early in gestation and survival if infection occurs late. However infection at an intermediate stage, before the fetal immune system is fully developed, may result in a chronic infection that lingers until the first months after birth of the lamb. Midges then spread the pathogen from the calves to other animals, starting a new season of infection.[23]
## Treatment and prevention[edit]
Prevention is effected via quarantine, inoculation with live modified virus vaccine and control of the midge vector, including inspection of aircraft.
### Livestock management and insect control[edit]
However, simple husbandry changes and practical midge control measures may help break the livestock infection cycle. Housing livestock during times of maximum midge activity (from dusk to dawn) may lead to significantly reduced biting rates. Similarly, protecting livestock shelters with fine mesh netting or coarser material impregnated with insecticide will reduce contact with the midges. The Culicoides midges that carry the virus usually breed on animal dung and moist soils, either bare or covered in short grass. Identifying breeding grounds and breaking the breeding cycle will significantly reduce the local midge population. Turning off taps, mending leaks and filling in or draining damp areas will also help dry up breeding sites.[24] Control by trapping midges and removing their breeding grounds may reduce vector numbers. Dung heaps or slurry pits should be covered or removed, and their perimeters (where most larvae are found) regularly scraped.[25]
### Vaccines[edit]
This section needs to be updated. Please update this article to reflect recent events or newly available information. (November 2020)
Outbreaks in southern Europe have been caused by serotypes 2 and 4, and vaccines are available against these serotypes (ATCvet codes: QI04AA02 (WHO) for sheep, QI02AA08 (WHO) for cattle). However, the disease found in northern Europe (including the UK) in 2006 and 2007 has been caused by serotype 8. Vaccine companies Fort Dodge Animal Health (Wyeth), Merial and Intervet were developing vaccines against serotype 8 (Fort Dodge Animal Health has serotype 4 for sheep, serotype 1 for sheep and cattle and serotype 8 for sheep and cattle) and the associated production facilities. A vaccine for this is now available in the UK, produced by Intervet. Fort Dodge Animal Health has their vaccines available for multiple European Countries (vaccination will start in 2008 in Germany, Belgium, Switzerland, Spain and Italy). However, immunization with any of the available vaccines preclude later serological monitoring of affected cattle populations, a problem which could be resolved using next-generation subunit vaccines currently in development.[26]
In January 2015, Indian researchers launched a vaccine named 'Raksha Blu' that is designed to protect livestock against five strains of the bluetongue virus prevalent in the country.[27]
## History[edit]
Although bluetongue disease was already recognized in South Africa in the early 19th century, a comprehensive description of the disease was not published until the first decade of the 20th century.[28] In 1906 Arnold Theiler showed that bluetongue was caused by a filterable agent. He also created the first bluetongue vaccine, which was developed from an attenuated BTV strain.[29] For many decades bluetongue was thought to be confined to Africa. The first confirmed outbreak outside of Africa occurred in Cyprus in 1943.[28]
## Related diseases[edit]
African horse sickness is related to bluetongue and is spread by the same midges (Culicoides species). It can kill the horses it infects and mortality may go as high as 90% of the infected horses during an epidemic.[30]
Epizootic hemorrhagic disease virus is closely related and crossreacts with Bluetongue virus on many blood tests.
## References[edit]
1. ^ "Q&A: Bluetongue disease". BBC. 2008-09-17. Retrieved 2010-01-01.
2. ^ Mauroy; et al. (2008). "Bluetongue in Captive Yaks". Emerging Infectious Diseases. 14 (4): 675–6. doi:10.3201/eid1404.071416. PMC 2570917. PMID 18394296.
3. ^ a b c Roy P (2008). "Molecular Dissection of Bluetongue Virus". Animal Viruses: Molecular Biology. Caister Academic Press. pp. 305–354. ISBN 978-1-904455-22-6.
4. ^ McGrath, Matt (29 September 2007). "'Dancing' disease set for long run". BBC News. Retrieved 2008-10-24.
5. ^ Handbook of Animal Diseases in the Tropics, 1976. ISBN 0-901028-10-X
6. ^ Jensen, R. and Swift, B.L. Diseases of Sheep, Lea and Febiger, Philadelphia, 1982. ISBN 0-8121-0836-1
7. ^ Maan S, Maan NS, Nomikou K, Veronesi E, Bachanek-Bankowska K, Belaganahalli MN, Attoui H, Mertens PP (2011). "Complete genome characterisation of a novel 26th bluetongue virus serotype from Kuwait". PLOS ONE. 6 (10): e26147. Bibcode:2011PLoSO...626147M. doi:10.1371/journal.pone.0026147. PMC 3198726. PMID 22031822.
8. ^ a b Roy P (2008). "Functional mapping of bluetongue virus proteins and their interactions with host proteins during virus replication". Cell Biochemistry and Biophysics. 50 (3): 143–57. doi:10.1007/s12013-008-9009-4. PMID 18299997. S2CID 984334.
9. ^ Rossmann MG, Tao Y (March 1999). "Courageous science: structural studies of bluetongue virus core". Structure. 7 (3): R43–R46. doi:10.1016/s0969-2126(99)80031-8. PMID 10368304.
10. ^ Purse, Bethan V.; Mellor, Philip S.; Rogers, David J.; Samuel, Alan R.; Mertens, Peter P. C.; Baylis, Matthew (February 2005). "Climate change and the recent emergence of bluetongue in Europe". Nature Reviews Microbiology. 3 (2): 171–181. doi:10.1038/nrmicro1090. PMID 15685226. S2CID 62802662.
11. ^ "Bluetongue – Europe (51)". International Society for Infectious Diseases. 2007-10-30. Archived from the original on December 26, 2007. Retrieved 2007-10-31.
12. ^ Baylis, M.; Caminade, C.; Turner, J.; Jones, A.E. (2017-08-01). "The role of climate change in a developing threat: the case of bluetongue in Europe: -EN- -FR- L'influence du changement climatique dans les menaces sanitaires évolutives : l'exemple de la fièvre catarrhale ovine en Europe -ES- La influencia del cambio climático en una amenaza creciente: el caso de la lengua azul en Europa". Revue Scientifique et Technique (International Office of Epizootics). 36 (2): 467–478. doi:10.20506/rst.36.2.2667. ISSN 0253-1933. PMID 30152470.
13. ^ "Blue Tongue confirmed in Belgium and Germany" (Press release). European Commission. 2006-08-21. Retrieved 2006-08-21.
14. ^ "Lethal horse disease knocking on Europe's door" (Press release). Horsetalk.co.nz. 2007-03-28. Retrieved 2007-03-27.
15. ^ "Bluetongue dobývá Evropskou unii". Agroweb. 2008-02-19. Archived from the original on 2009-03-06. Retrieved 2008-05-29.
16. ^ "Bluetongue disease detected in UK". BBC News Online. 2007-09-22. Retrieved 2007-09-22.
17. ^ Gray, Richard (2007-10-14). "Bluetongue spreads from cattle to sheep". London: Telegraph.co.uk. Retrieved 2007-10-15.
18. ^ "Bluetongue – Europe (50)". International Society for Infectious Diseases. 2007-10-30. Archived from the original on December 26, 2007. Retrieved 2007-10-31.
19. ^ "Bluetongue outbreak detected in Denmark – EU", Reuters, 13 October 2007.
20. ^ "Blue tongue outbreak spreads south". Thelocal.se. 2008-09-24. Retrieved 2008-09-24.
21. ^ Mehlhorn, Heinz; Walldorf, Volker; Klimpel, Sven; Schaub, Günter; Kiel, Ellen; Focke, René; Liebisch, Gabriele; Liebisch, Arndt; Werner, Doreen; Bauer, Christian; Clausen, Henning (2009). "Bluetongue disease in Germany (2007–2008): monitoring of entomological aspects". Parasitology Research. 105 (2): 313–319. doi:10.1007/s00436-009-1416-y. ISSN 1432-1955. PMID 19322587. S2CID 35616241.
22. ^ Veterinærinstituttet informs about the outbreak in Vest-Agder Archived 2009-03-06 at the Wayback Machine, Norway National Veterinary Institute, 20 February 2009.
23. ^ Wilson A, Darpel K, Mellor PS (August 2008). "Where does bluetongue virus sleep in the winter?". PLOS Biology. 6 (8): e210. doi:10.1371/journal.pbio.0060210. PMC 2525685. PMID 18752350.
24. ^ Gairdner, Julie. "Bluetongue (blue tongue) outbreak in the UK – FWi's special report" Archived 2007-10-12 at the Wayback Machine, Farmers Weekly, 24 September 2007. Offers practical advice for preventing Bluetongue in livestock.
25. ^ Abel, Charles. "Bluetongue vaccine BTV8 questions answered" Archived 2008-06-11 at the Wayback Machine, Farmers Weekly, 2 April 2008.
26. ^ Anderson J, Hägglund S, Bréard E, Comtet L, Lövgren Bengtsson K, Pringle J, Zientara S, Valarcher JF (2013). "Evaluation of the immunogenicity of an experimental DIVA subunit vaccine against Bluetongue virus serotype 8 in cattle". Clinical and Vaccine Immunology. 20 (8): 1115–22. doi:10.1128/CVI.00229-13. PMC 3754508. PMID 23720365.
27. ^ Staff Reporter (2015-01-08). "Vaccine for bluetongue disease launched". The Hindu.
28. ^ a b Mertens, Peter (2009). Bluetongue (Biology of Animal Infections) (1 ed.). Academic Press. pp. 7–21. ISBN 978-0123693686.
29. ^ Maclachlan NJ (November 2011). "Bluetongue: history, global epidemiology, and pathogenesis". Preventive Veterinary Medicine. 102 (2): 107–11. doi:10.1016/j.prevetmed.2011.04.005. PMID 21570141.
30. ^ African Horse Sickness – Clinical Findings and Lesions, The Merck Veterinary Manual.
## External links[edit]
Wikimedia Commons has media related to Bluetongue disease.
* Introduction to disease in The Merck Veterinary Manual
* Current status of Bluetongue worldwide at World Organisation for Animal Health (OIE). WAHID Interface – OIE World Animal Health Information Database
* Disease card
* UK government page from Defra
* Bluetongue page on warmwell.com
* Canadian Food Inspection Agency (CFIA) Animal Disease Information
* Bluetongue disease fact sheet
* Biosecurity training video
* Farm-level biosecurity practices
* Takamatsu, H; Mellor, PS; Mertens, PP; Kirkham, PA; Burroughs, JN; Parkhouse, RM (January 2003). "A possible overwintering mechanism for bluetongue virus in the absence of the insect vector". The Journal of General Virology. 84 (Pt 1): 227–35. doi:10.1099/vir.0.18705-0. PMID 12533719.
* News and announcements on the Bluetongue outbreak in the UK, Farmers Guardian
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Bluetongue disease
|
c0005866
| 25,429 |
wikipedia
|
https://en.wikipedia.org/wiki/Bluetongue_disease
| 2021-01-18T19:10:34 |
{"mesh": ["D001819"], "wikidata": ["Q162262"]}
|
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
## Epidemiology
Around 50 known cases have been reported. Prevalence is estimated at 1/22,000 to 1/30,000 births.
## Clinical description
Most common clinical manifestations include developmental delay, mild to severe degree of cognitive deficit, lack or delay of expressive speech and language and hypotonia contributing to a severe psychomotor delay. Most children with invdupdel(8p) have been reported to be happy natured, sociable and communicative albeit non-verbal, but some may exhibit attention deficits, impulsivity and hyperactivity. Thirty to fifty percent of individuals with invdupdel(8p) have autism which varies greatly between individuals from very mild to severely autistic. Facial dysmorphism, more noticeable in childhood, are subtle and frequently include a prominent forehead, temporal baldness, anteverted nostrils, eversion of the lower lip, large mouth and ears and a short neck. Adults with invdupdel(8p) are normal to exceptionally tall and have a tendency to develop progressive hypertonia, spastic quadriplegia and severe orthopedic problems like contracted joints and scoliosis. Cardiac defects, eye abnormalities, urinary system anomalies, precocious puberty, high palate and abnormal dental development, as well as anomalies of extremities and dislocated hips have occasionally been reported.
## Etiology
An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo.
## Diagnostic methods
Diagnosis is based on clinical manifestations and agenesis of the corpus callosum on brain magnetic resonance imaging (MRI) leading to chromosomal analysis. Molecular techniques may be used for the genetic characterization of the deletion (FISH, MLPA, CGH array).
## Differential diagnosis
Differential diagnosis includes other multiple congenital anomalies/intellectual deficit syndromes such as Trisomy 8p (see this term), in particular those with a 8p21-p22 duplication.
## Antenatal diagnosis
Antenatal diagnosis is based on echographic detection of fetal abnormalities (e.g. agenesis of corpus callosum) and cytogenetic analysis after amniocenteses or chorionic villus sampling.
## Genetic counseling
Genetic counseling is recommended. Invdupdel(8p) rearrangements occur de novo. However, parents can carry a harmless common inversion involving the 8p23.1 segment (prevalence 1/4 to 1/5) which on rare occasions might lead to the more complex invdupdel(8p) rearrangement in their offspring.
## Management and treatment
There is no specific medical treatment. Physiotherapy from an early age as well as occupational therapy and speech therapy are recommended. Some patients benefit from music therapy. No gross orthopedic complications are noted. However, regular follow-up is needed.
## Prognosis
There is no report on life expectancy. The majority of invdupdel(8p) individuals will need lifelong full-time care. Spastic quadriplegia may be slowly progressive with age.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
8p inverted duplication/deletion syndrome
|
None
| 25,430 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96092
| 2021-01-23T19:06:35 |
{"icd-10": ["Q99.8"], "synonyms": ["Invdupdel(8p)", "Inverted 8p duplication/deletion syndrome"]}
|
Cherry trees infected with X-disease yield smaller and paler fruit (upper left).
Cherry X Disease
Causal agentsPhytoplasma
HostsSweet/sour cherries
Vectorsmountain leafhopper (Colladonus montanus)
Cherry X disease also known as Cherry Buckskin disease is caused by a plant pathogenic phytoplasma. Phytoplasma's are obligate parasites of plants and insects. They are specialized bacteria, characterized by their lack of a cell wall, often transmitted through insects, and are responsible for large losses in crops, fruit trees, and ornamentals.[1] The phytoplasma causing Cherry X disease has a fairly limited host range mostly of stone fruit trees. Hosts of the pathogen include sweet/sour cherries, choke cherry, peaches, nectarines, almonds, clover, and dandelion. Most commonly the pathogen is introduced into economical fruit orchards from wild choke cherry and herbaceous weed hosts. The pathogen is vectored by mountain and cherry leafhoppers. The mountain leafhopper vectors the pathogen from wild hosts to cherry orchards but does not feed on the other hosts. The cherry leafhopper which feeds on the infected cherry trees then becomes the next vector that transmits from cherry orchards to peach, nectarine, and other economic crops. Control of Cherry X disease is limited to controlling the spread, vectors, and weed hosts of the pathogen. Once the pathogen has infected a tree it is fatal and removal is necessary to stop it from becoming a reservoir for vectors.
## Contents
* 1 Hosts
* 2 Symptoms
* 3 Disease cycle
* 4 Importance of the Disease
* 5 Environment
* 5.1 Mountain Leafhopper (Collandonus montanus)
* 5.2 Cherry Leafhopper (Fieberiella florii)
* 6 Management
* 6.1 Pest management
* 6.2 Weed host management
* 6.2.1 Herbaceous hosts
* 6.2.2 Woody hosts
* 7 References
## Hosts[edit]
For Cherry X disease there are two types of hosts for the phytoplasma, reservoir and non-reservoir hosts. Reservoir hosts can survive for long periods while being infected with the disease. This allows them to be a constant food source for the leafhoppers which act to vector the phytoplasma from these hosts to other hosts in the area. Choke cherry is the most common reservoir host and a favorite food for the cherry leafhoppers. Other reservoir hosts include clovers and dandelions.[2] Sweet/sour cherries, as well as almonds and Japanese plums are all fruit tree reservoir hosts for the Cherry X disease. All of these, once infected, can act as a source for the disease to be vectored from to other hosts. While non-cherry hosts can become infected they are not the preferred host of the phytoplasma. Because of the vectors preference for cherry trees, choke cherry which is a wild growing cherry species is the most common host of the disease. The range that Cherry X disease is distributed over is directly linked to the distribution of wild choke cherry populations.[3]
Non-reservoir hosts are hosts that once infected do not allow for the disease to be spread. Peach and nectarine trees can be infected but they do not allow for the spread of the disease. This process which causes them to halt the spread of the pathogen is still not well understood. Peaches are commonly infected when near cherry orchards. Non-reservoir hosts are infected when cherry leafhoppers that are carrying the phytoplasma feed on non-reservoir hosts that are near a cherry orchard that has the pathogen. [4]
## Symptoms[edit]
The symptoms of Cherry X disease vary greatly depending on the host. On cherry hosts symptoms can usually first be seen on the fruits, causing them to be smaller in size with a leathery skin. Pale fruit is common at harvest time. It is common for symptoms to first be seen in a single branch. The branch may lose its older leaves, and the leaves tend to be smaller with a bronzed complexion. [5]
The rootstock that the cherry is grafted onto can play a significant role in the disease symptoms seen. Rootstocks of Mahaleb cherry exhibit different symptoms from stocks of Colt, Mazzard, or Stockton Morello. When the scion is grafted onto Mahaleb, symptoms consistent with Phytophthora root rot can be seen. To distinguish between root rot and x-disease the wood under the bark at the graft union should be examined. If it is x-disease the wood at the union will have grooves and pits this causes a browning of the phloem and shows the cells in decline. This rapid decline is caused by the rootstock cells near the graft union dying in large quantities. Foliage begins to turn yellow and the curl upward and inward toward the leaf midrib. Trees infected with Mahaleb rootstock die by late summer or early the following year.
When Cherries are grafted onto Colt, Mazzard, or Stockton Morello rootstocks, there is a different range of symptoms. Affected leaves are smaller than normal and the foliage may be sparse. Dieback of shoot tips is common as the disease progresses. Fruit on branches are smaller, lighter, pointed, low sugar content, poor flavor, and a bitter taste.[2]
Peaches are the next most common economic fruit host of the X-disease. Symptoms can be seen after about two months single branches will begin to show symptoms of their individual leaves. These leaves curl up and inward with irregular yellow to reddish-purple spots. These spots can drop out leaving “shotholes”. Leaves that are affected by the disease will fall prematurely. After 2–3 years the entire tree will show symptoms.[6]
## Disease cycle[edit]
Mountain leafhopper (Colladonus montanus) overwinters on winter annual weeds, particularly near streams and canals. Adults can be plentiful on sugarbeet during late winter/spring and migrate to favored weed hosts such as curly dock or burclovers in orchards. The Mountain leafhopper is most abundant vector found on cherry but does not reproduce on cherry. The mountain leafhopper (Colladonus montanus) spreads the disease from wild herbaceous hosts to woody hosts. It is believed that it is more responsible for the introduction of the disease into cherry trees, then in transferring them from cherry tree to cherry tree in an orchard. The cherry leafhopper (Fieberiella florii) reproduces on a broad range of woody hosts. The cherry leafhopper is more important in vectoring the disease from tree to tree within an orchard, since cherry is a favored host. After a leafhopper feeds on an infected host the pathogen has to undergo a latent period. During the latent period the pathogen spreads and multiplies inside the vector. Depending on temperature and the vector, the average latent period for the cherry x disease is about a month or longer. The phytoplasma is then transmitted from the leafhopper to the tree when the leafhopper is feeding on the trees phloem. It's then spread throughout the tree becoming systemic. July through October is when the highest concentrations of pathogen are present in leaves of infected trees.[7]
## Importance of the Disease[edit]
The disease is fatal and will always yield damaged fruit (choke cherries) as well as a dying/dead tree. If left unattended to, the leafhoppers can become life-time transmitters/vectors for the disease following about a 1-month latent period. The disease can take as quickly as 2–3 months to develop symptoms but more commonly 6–9 months, but the symptoms are usually first seen in the next growing season after the infection, with the rare exception that the infection and first symptoms occur both in the same spring season. In high cherry producing areas, such as California, Washington, and Oregon, this disease could be devastating if left unchecked. For instance in 2002, 57,000 tons of cherries were harvested from 24,000 acres in California. The year grossed a total of over $152 million.[8] If, in 2002, this disease was allowed to incubate, the results would show a drastic decline of production and huge loss of revenue as early as 2003. This disease does not take long to develop and since fatality is always the endgame, high producing areas such as these would see results of epidemic proportions.
## Environment[edit]
Leafhoppers are the only known vectors that can carry the X-disease from a wild host into peach and cherry orchards. Orchard trees are most often infected by insect vectors. In California where it was first noted, the two most important vectors were the mountain leafhopper, Collandonus montanus, and the cherry leafhopper, Fieberiella florii.[9][10][11]
### Mountain Leafhopper (Collandonus montanus)[edit]
The mountain leafhopper survives on winter annual weeds during winter, usually near stream banks or canals. In late winter or spring, adults can be found in sugar beet fields and can then migrate to favored weed hosts (curly dock, burclovers) in orchards. The mountain leafhopper is most often the abundant vector found on cherry, however, cherry is not the preferred host and the leafhopper does not reproduce on cherry. Preferred hosts for the mountain leafhopper are; alfalfa, California burclover, clovers, curly dock, and sweet clovers. Of the preferred hosts alfalfa and curly dock cannot become infected with the disease itself but are just a host for the leafhopper. Occasional hosts are; vetches (in legume family) and sweet cherry. It’s believed that the role of this leafhopper is introducing the disease into cherry orchards rather than spreading the disease between cherry trees within an orchard.(http://ucanr.org/sites/cccoopext/files/80935.pdf)
### Cherry Leafhopper (Fieberiella florii)[edit]
The cherry leafhopper has a more significant role in spreading the disease between cherry trees because cherry is a favored host. The leafhopper feeds and reproduces on a wide range of woody hosts. Preferred hosts for the cherry leafhopper are; box wood, lilac, myrtle, privet, pyracantha, sweet cherry, and viburnum. Of these preferred hosts only sweet cherry can become infected with the disease itself. Occasional hosts are; almond, apple and crabapple, apricot, bitter cherry, ceanothus, chokecherry, hawthorn, peach, pear, Japanese plum, and prune. Of these occasional hosts only chokecherry and bittercherry and occasionally almond, peach and Japanese plum can become infected with the disease itself. (http://ucanr.org/sites/cccoopext/files/80935.pdf)
There are seven known vectors that transmit the disease in western United States. These leafhoppers are Colladonus geminatus, Fieberiella florii, Keonolla confluens, Scaphytopius delongi, Osbornellus borealis, Colladonus montanus, and Euscelidius variegatus. Other possible leafhopper vectors are Scaphytopius aculus, Paraphlepsius irroratus, Colladonus clitellarius, and Norvellina seminude.[9][12] Not a lot of information is available for ideal environmental conditions for the disease. However, conditions conducive to leafhoppers is most likely the key for the greatest spread of disease.
## Management[edit]
There are numerous steps one has to take to try to manage the disease as best as possible. The aim is at prevention because once the pathogen reaches the cherry trees, disease will surely ensue and there is no cure or remedy to prevent the loss of fruit production as well as the ultimate death of the tree.
### Pest management[edit]
The first approach, which is the best approach at an effective management practice would be to eradicate or severely damage the Mountain and Cherry Leafhopper population because the leafhoppers are the number one vectors for this pathogen. To do this, pesticides (i.e. acephate, bifenthrin, cyfluthrin)[13] could be applied or biological control (predators of the leafhopper) could be used. There should be a pre-season application of control measures as well as a post-season application. This is to maximize the effort at controlling both types of leafhoppers (Cherry and Mountain), thus cutting down the starting inoculum at both stages in the life cycle.
### Weed host management[edit]
Some herbaceous hosts naturally have the Cherry X Disease. Once the spreads to the cherry hosts, with the help of the mountain leafhoppers, the cherry leafhoppers can spread the disease around to other woody hosts. Here are some approaches at management with each host type:
#### Herbaceous hosts[edit]
The herbaceous hosts are common weeds (i.e. clovers, dandelions, alfalfa) that serve as a feeding ground for the mountain leafhoppers. The herbaceous hosts are the source of the X Disease, which is picked up and transmitted to the cherry hosts by the mountain leafhopper. (See Environment) For a control, conventional herbicides are effective. There exists a common herbaceous host, curly dock, which serves as the mountain leafhopper's main breeding ground. Getting rid of curly dock with an herbicide would be key to limit the population, thus limiting the spread of the X Disease to the cherry hosts.
#### Woody hosts[edit]
After the disease moves on from the herbaceous host with the help of the mountain leafhoppers, it moves to the cherry hosts (i.e. bitter cherry and chokecherry). Once there, the infected trees should be destroyed and removed, along with all infected fruits. This is to prevent further spreading into other woody hosts such as peach, plum, apple etc., because once a tree is infected, it cannot be saved and it will become a source of the X Disease which the cherry leafhoppers can pick up and spread to the other woody hosts. In conclusion, all infected woody hosts should be removed and destroyed along with all infected fruits.[14]
## References[edit]
1. ^ Dickinson, Matt. "Moble units of DNA in phytoplasma genomes". Molecular Microbiology. Consumer Health Complete - EBSCOhost. Retrieved 12 April 2013.[permanent dead link]
2. ^ a b "Cherry Buckskin Disease (X-Disease)" (PDF). University of California Cooperative Extension Contra Costa. Retrieved 21 October 2013.
3. ^ Ellis, Michael A. "X-Disease (Mycoplasma disease of peaches and nectarines)" (PDF). Department of Plant pathology, The Ohio State University extension. Retrieved 13 November 2013.
4. ^ "Cherry Buckskin Symptoms & Vectors" (PDF). University of California Cooperative Extension Contra Costa. Retrieved 21 October 2013.
5. ^ "Identifying Choke Cherry – Source of X Disease" (PDF). University of New Hampshire cooperative extension. Retrieved 22 October 2013.
6. ^ Podleckis, E.V. "X-Disease". West Virginia University. Archived from the original on 13 July 2013. Retrieved 21 October 2013.
7. ^ "Cherry Buckskin Disease (X-Disease)" (PDF). Retrieved 11 January 2013.
8. ^ "CALIFORNIA CHERRY PRODUCTION OVERVIEW" (PDF). A Pest Management Strategic Plan for Cherry Production in California. Archived from the original (PDF) on 2014-06-11. Retrieved 2013-11-13.
9. ^ a b Taboada, O.; Rosenberger, D. A.; Jones, A. L. (1975). "Leafhopper Fauna of X-Diseased Peach and Cherry Orchards in Southwest Michigan". Journal of Economic Entomology. 68 (2): 255–257. doi:10.1093/jee/68.2.255.
10. ^ Senft, Dennis (September 1995). "Fatal Cherry Disease is Treed". Agricultural Research. 43 (9): 21.[permanent dead link]
11. ^ http://ucanr.org/sites/cccoopext/files/80935.pdf
12. ^ Rice, R. E.; R. A. Jones (1972). "Leafhopper vectors of the Western X-disease pathogen: collections in central California". Environ. Entomol. 1 (6): 726–730. doi:10.1093/ee/1.6.726.
13. ^ "Leafhoppers" (PDF). IPM of Midwest Landscapes. Archived from the original (PDF) on 2013-10-29.
14. ^ Ellis, Michael (2008). "X-Disease (Mycoplasma disease of peaches and nectarines)". The Ohio State University Extension- Agriculture and Natural Resources.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cherry X Disease
|
None
| 25,431 |
wikipedia
|
https://en.wikipedia.org/wiki/Cherry_X_Disease
| 2021-01-18T18:52:07 |
{"wikidata": ["Q17083372"]}
|
Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).
## Epidemiology
The worldwide prevalence is estimated at 1/30, 000.
## Clinical description
The disease affects mainly young adult women with no previous medical conditions. However, non-menstrual TSS, which can also be observed in men and children, represents up to 50% of Staphylococcal TSS cases. Onset is sudden and includes high fever (>38.9°C), nausea, diarrhea, vomiting, myalgia, abdominal pain and sore throat. Staphylococcal TSS almost always exhibits an erythematous rash and skin peeling as one of its manifestations, whereas it is very rarely seen in streptococcal TSS, which can show signs of soft tissue infection. Serious manifestations include confusion, shock, renal and myocardial dysfunction, acute respiratory distress syndrome (ARDS; see this term) and coma.
## Etiology
Staphylococcal TSS is due to an infection with Staphylococcus aureus and streptococcal TSS is due to an infection with Streptococcus pyogenes, or rarely, group C or G Streptococcus. Superantigens produced by both bacteria are responsible for the massive and sudden immune reaction seen in TSS. Both forms have been associated with recent traumas (surgery or childbirth) and viral infections, while staphylococcal TSS has also been associated with high absorbency tampon use.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Bacterial toxic-shock syndrome
|
None
| 25,432 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36234
| 2021-01-23T19:08:51 |
{"gard": ["9560"], "icd-10": ["A48.3"], "synonyms": ["Bacterial TSS"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).
Clinical Features
Brownstein et al. (2006) examined 12 affected and 12 unaffected members of a 5-generation Israeli family with otosclerosis. All of the otosclerotic members of the family experienced progressive hearing loss, beginning late in the third decade to the fifth decade; the female members of the family reported first noticing hearing loss about a decade sooner than the males. There was large variability between affected individuals in age at onset, type of hearing loss, shape of audiogram, and symmetry of hearing loss. Eight patients had bilateral and 3 patients had unilateral conductive or mixed hearing loss, and 1 patient had sensorineural hearing loss. There were no reports of tinnitus.
Mapping
Brownstein et al. (2006) performed genomewide linkage analysis in 24 members of a 5-generation Israeli pedigree segregating otosclerosis in an autosomal dominant age-dependent fashion with reduced penetrance. A maximum 2-point lod score of 3.97 was found on chromosome 16q22.1-q23.1 (theta = 0); recombination analysis defined a 9- to 10-Mb region flanked by markers D16S3107 and D16S3097.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Otosclerosis \- Hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural MISCELLANEOUS \- 2:1 female preponderance ▲ 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
|
OTOSCLEROSIS 4
|
c1969046
| 25,433 |
omim
|
https://www.omim.org/entry/611571
| 2019-09-22T16:03:07 |
{"mesh": ["C566914"], "omim": ["611571"]}
|
Necrobiosis lipoidica
SpecialtyDermatology
Necrobiosis lipoidica is a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis.[1] In the former case it may be called necrobiosis lipoidica diabeticorum (NLD).[2] NLD occurs in approximately 0.3% of the diabetic population, with the majority of sufferers being women (approximately 3:1 females to males affected).
The severity or control of diabetes in an individual does not affect who will or will not get NLD.[3] Better maintenance of diabetes after being diagnosed with NLD will not change how quickly the NLD will resolve.
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
NL/NLD most frequently appears on the patient's shins, often on both legs, although it may also occur on forearms, hands, trunk, and, rarely, nipple, penis, and surgical sites. The lesions are often asymptomatic but may become tender and ulcerate when injured. The first symptom of NL is often a "bruised" appearance (erythema) that is not necessarily associated with a known injury. The extent to which NL is inherited is unknown.
NLD appears as a hardened, raised area of the skin. The center of the affected area usually has a yellowish tint while the area surrounding it is a dark pink. It is possible for the affected area to spread or turn into an open sore. When this happens the patient is at greater risk of developing ulcers. If an injury to the skin occurs on the affected area, it may not heal properly or it will leave a dark scar.
## Pathophysiology[edit]
Although the exact cause of this condition is not known, it is an inflammatory disorder characterised by collagen degeneration, combined with a granulomatous response. It always involves the dermis diffusely, and sometimes also involves the deeper fat layer. Commonly, dermal blood vessels are thickened (microangiopathy).[3]
It can be precipitated by local trauma, though it often occurs without any injury.[4]
## Diagnosis[edit]
Micrograph showing necrobiosis lipoidica in a punch biopsy.
NL is diagnosed by a skin biopsy, demonstrating superficial and deep perivascular and interstitial mixed inflammatory cell infiltrate (including lymphocytes, plasma cells, mononucleated and multinucleated histiocytes, and eosinophils) in the dermis and subcutis, as well as necrotising vasculitis with adjacent necrobiosis and necrosis of adnexal structures. Areas of necrobiosis are often more extensive and less well defined than in granuloma annulare. Presence of lipid in necrobiotic areas may be demonstrated by Sudan stains. Cholesterol clefts, fibrin, and mucin may also be present in areas of necrobiosis. Depending on the severity of the necrobiosis, certain cell types may be more predominant. When a lesion is in its early stages, neutrophils may be present, whereas in later stages of development lymphocytes and histiocytes may be more predominant.
## Treatment[edit]
There is no clearly defined cure for necrobiosis.[5] NLD may be treated with PUVA therapy and improved therapeutic control.[medical citation needed]
Although there are some techniques that can be used to diminish the signs of necrobiosis such as low dose aspirin orally, a steroid cream or injection into the affected area, this process may be effective for only a small percentage of those treated.
## See also[edit]
* Diabetic dermadromes
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Dennis, Mark; Bowen, William Talbot; Cho, Lucy (2012). "Necrobiosis lipoidica diabeticorum". Mechanisms of Clinical Signs. Elsevier. p. 541. ISBN 978-0729540759; pbk
3. ^ a b Klaus J. Busam (15 January 2009). Dermatopathology. Elsevier Health Sciences. p. 54. ISBN 978-0-443-06654-2. Retrieved 22 August 2011.
4. ^ Michael I. Greenberg (2005). Greenberg's text-atlas of emergency medicine. Lippincott Williams & Wilkins. p. 416. ISBN 978-0-7817-4586-4. Retrieved 22 August 2011.
5. ^ AOCD Website
## External links[edit]
Classification
D
* ICD-10: L92.1
* ICD-9-CM: 709.3
* MeSH: D009335
* DiseasesDB: 5414
External resources
* eMedicine: derm/283
* Information and image at NIH
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Necrobiosis lipoidica
|
c0027538
| 25,434 |
wikipedia
|
https://en.wikipedia.org/wiki/Necrobiosis_lipoidica
| 2021-01-18T18:45:14 |
{"gard": ["13040"], "mesh": ["D009335"], "umls": ["C0027538"], "icd-9": ["709.3"], "icd-10": ["L92.1"], "wikidata": ["Q905619"]}
|
A number sign (#) is used with this entry because xeroderma pigmentosum complementation group C (XPC) is caused by mutation in the XPC gene (613208) on chromosome 3p25.
Description
Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).
For a general discussion of xeroderma pigmentosum, see XPA (278700).
Clinical Features
Lynch et al. (1984) suggested that complementation group C patients may be particularly prone to malignant melanoma.
Li et al. (1993) identified 2 patients with XPC confirmed by genetic analysis (613208.0003). Cell lines from these patients were the least sensitive to UV-irradiation compared to 4 other cell lines, and exhibited a near-normal level of XPC mRNA. Clinically, the proband was diagnosed with XP at birth and was rigorously protected from sunlight from that time; as of 13 years of age, the patient had not exhibited any malignant neoplasms. However, an older brother with XP began to develop tumors by age 13. Like the vast majority of XPC patients, this patient did not exhibit neurologic complications.
Chavanne et al. (2000) reported 12 patients with XPC. None showed neurologic abnormalities. DNA repair activity ranged from 10 to 20% of normal.
Gozukara et al. (2001) reported a Turkish family with severe XPC confirmed by genetic analysis (R579X; 613208.0007). The 8-year-old boy had abnormal skin lesions by 1 year of age, and developed typical freckling on sun-exposed areas with atrophy, telangiectasia, hypopigmentation, and actinic keratoses. He had multiple skin cancers and died at age 10 years. There were no neurologic abnormalities. His 5-year-old sister developed abnormal skin lesions at age 6 months and squamous cell carcinoma on her face at age 2 years. A cousin was also reportedly affected. The DNA repair level was 12 to 16% of normal.
Khan et al. (2004) reported 2 consanguineous Turkish families with XPC. In the first family, a 20-year-old male and his 16-year-old sister were both severely affected. They developed skin lesions at 3 years of age. Both had cutaneous atrophy, telangiectasia, actinic keratoses, and multiple skin cancers including squamous cell carcinomas, basal cell carcinomas, and melanomas. In the second family, 3 sisters, aged 20, 18, and 11 years, were more mildly affected. Skin lesions began at age 3 to 5 years. They had freckling but no skin atrophy, telangiectasia, or actinic keratoses. The oldest sister had a squamous cell carcinoma excised from her face at age 12 years. The other sisters did not have skin cancer.
### Clinical Variability
Hananian and Cleaver (1980) reported an unusual patient with XPC diagnosed by cell complementation studies who had neurologic symptoms and features of systemic lupus erythematosus (SLE; see 152700).
Khan et al. (1998) reported a 4-year-old boy of Korean ancestry with XPC. The phenotype was characterized by sun sensitivity and multiple cutaneous neoplasms, as well as unusual neurologic features, including hyperactivity and autistic features. Other typical XP neurologic abnormalities were not preset. In addition, laboratory studies showed persistently low levels of glycine. Hyperactivity diminished with oral glycine supplements. Genetic analysis identified a mutation in the XPC gene (613208.0005).
Pathogenesis
XP patients are susceptible to UV-induced freckling and malignant skin changes, whereas Cockayne syndrome (see, e.g., 216400) patients do not have increased susceptibility to these lesions. Seguin et al. (1988) studied the frequency of ultraviolet light-induced chromosomal breaks in lymphoblastoid cell lines from patients with Cockayne syndrome and from patients with xeroderma pigmentosum. Cells established from patients with either disorder had the same abnormal increase in the number of induced aberrations. However, the authors concluded that the frequency of UV-induced breakage in the chromosomes of xeroderma pigmentosum group C cells does not explain the susceptibility of these patients to sunlight-induced skin cancer.
Molecular Genetics
Li et al. (1993) identified changes in the XPC gene (see, e.g., 613208.0001-613208.0004) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited a near normal level.
In affected members of 2 unrelated but consanguineous Turkish families with XPC, Khan et al. (2004) identified 2 different splice site mutations in the XPC gene (613208.0008 and 613208.0009), respectively. RT-PCR of cells from the severely affected patients showed a short mRNA band and no detectable wildtype band. In contrast, cells from the more mildly affected patients had an mRNA band of shorter size and 1 of normal size. These findings correlated with disease severity.
Cleaver et al. (1999) reviewed mutations in the XPC gene.
Population Genetics
Ben Rekaya et al. (2009) reported a high frequency of XPC in Tunisia. They reported 14 affected Tunisian families, 12 of which were consanguineous. Age at onset ranged from 1 to 96 months and the average age of the patients was 11 years. Clinical features included photophobia and skin tumors, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. None of the patients had neurologic abnormalities. Genetic analysis showed that all patients carried the same homozygous 2-bp deletion (1744delTG; 613208.0010) in the XPC gene. Haplotype analysis indicated a founder effect.
History
A ninth complementation group (XPI) described by Fischer et al. (1985) was withdrawn by Bootsma et al. (1989). The initial classification had been done on the basis of studies of 1 cell line only. Study with a second biopsy from both of the 2 sibs showed that the cells behaved exactly like those of the XPC complementation group. Bootsma et al. (1989) suspected that the original cell strain was contaminated with another XP cell strain, at least at the stage when complementation experiments with XPC fibroblasts were performed. If these contaminating cells belong to an XP complementation group other than C, one might expect to find complementation in all instances, even with itself. Unfortunately, the latter control experiment was not performed in the original study.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Photophobia SKIN, NAILS, & HAIR Skin \- Skin photosensitivity \- Early onset skin cancer (basal cell, squamous cell and malignant melanoma) \- Early freckle-like lesions in exposed areas \- Skin atrophy \- Telangiectasia \- Actinic keratoses \- Hypopigmentation MISCELLANEOUS \- Onset in early childhood MOLECULAR BASIS \- Caused by mutation in the XPC gene (XPC, 613208.0001 ) ▲ 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
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
c0043346
| 25,435 |
omim
|
https://www.omim.org/entry/278720
| 2019-09-22T16:21:07 |
{"doid": ["0110844"], "mesh": ["D014983"], "omim": ["278720"], "orphanet": ["910"], "synonyms": ["Alternative titles", "XPCC", "XP, GROUP C", "XERODERMA PIGMENTOSUM III"], "genereviews": ["NBK1397"]}
|
A person suffering from prosopamnesia would have to be exposed to the face of a famous person, such as Barack Obama, many times before they would be able to recognize him because the part of their brain responsible for encoding the memory of faces is impaired.
Prosopamnesia (Greek: προσωπον = "face", αμνησια = forgetfulness) is a selective neurological impairment in the ability to learn new faces. There is a special neural circuit for the processing of faces as opposed to other non-face objects. Prosopamnesia is a deficit in the part of this circuit responsible for encoding perceptions as memories.
## Contents
* 1 Overview
* 2 Symptoms
* 3 Cause
* 4 Neural processing circuit
* 5 Diagnosis
* 5.1 Face memory testing
* 6 History
* 7 Implications for neuroscience
* 8 See also
* 9 References
* 10 External links
## Overview[edit]
Prosopamnesia presents itself in patients as an inability to recognize people they have previously encountered based on their faces. In this way, it is very easily mistaken as prosopagnosia, which is an inability to perceive or recognize faces. Prosopagnosia is a deficit that occurs earlier in the neural circuit while the facial stimuli is being processed, whereas prosopamnesia takes effect when the brain attempts to encode the processed facial stimuli into memory. Because the distinction between prosopamnesia and prosopagnosia is so close in the neurological circuit, the only phenotypic difference between the two is in the breadth of faces to which a patient's symptoms apply. Prosopagnosics cannot recognize faces, even of people within their own families over the span of a lifetime. Prosopamnesiacs show a memory for facial stimuli that they learned prior to the onset of their condition (in the case of acquired prosopamnesia) or for facial stimuli that they have encountered repeatedly for long periods of time (in the case of congenital prosopamnesia).
There are currently only two diagnosed cases of prosopamnesia. This is likely due to the fact that it can easily be misdiagnosed as prosopagnosia based on symptoms. Some doctors have even recognized distinctions in deficits of facial perception and facial memory encoding and classified them as subfamilies of prosopagnosia.[1] This lack of consistency within the scientific community for classifying patients with facial memory encoding deficits is one reason that prosopamnesia has such rare diagnosis. Most of the current knowledge about how prosopamnesia works within the brain is hypothesized, but not proven, due to lack of case studies. As doctors become aware of the distinction between prosopagnosia and prosopamnesia, proper and more frequent diagnosis of prosopamnesia may occur.
## Symptoms[edit]
Symptoms of prosopamnesia may include:
* Difficulty recognizing people, especially when encountered outside of the previous or familiar context
* Use of non-facial cues such as hair, gait, or glasses to identify people
* Requiring many times of meeting people before being able to remember their names
* Trouble keeping track of characters in movies or TV shows
* Social anxiety
* Having a memory for the faces of people encountered before the brain damage occurred (acquired case only) [2]
## Cause[edit]
Prosopamnesia can be either genetically inherited (developmental)[3] or acquired as a result of incidental brain damage.[4] The exact cause of prosopamnesia is unverified, because there are only two known cases. Each group of doctors that studied the currently diagnosed prosopamnesiacs proposed slightly different explanations for the cause. Dr. Tippett's group described its cause as a "disconnection between learning mechanisms and domain-specific representations".[5] In other words, a general dysfunction in the brain's ability to encode a representation of facial stimuli into memory. Dr. Williams's group hypothesized that prosopamnesia is caused by an inability of the FFA to maintain a stable representation of new faces long enough for them to be encoded into memory.[3] This conclusion is partially based on the patient's differing responses to familiar and unfamiliar faces within the FFA as seen in blood-oxygen-level dependent (BOLD) responses recorded during functional magnetic resonance imaging (fMRI) tests.
## Neural processing circuit[edit]
Fusiform gyrus
The Occipital Face Area is located on the inferior surface of the Occipital Lobe
Superior Temporal Sulcus
Within the brain, visual stimuli are processed along many different neural circuits. Due to the evolutionary importance of being able to recognize faces and associate information with others based on this recognition, humans have evolved a distinct neural circuit for the processing of facial stimuli.[6] Since the discovery of this distinct circuit, the anatomical structures involved have been studied in depth.[7] The initial processing of visual stimuli occurs in the prefrontal cortex (PFC), postparietal cortex (PPC), and precuneus. The stimuli are then identified as being facial and more refined processing occurs within the fusiform face area (FFA),[8] the occipital face area (OFA), and the face-selective region of the superior temporal sulcus (fSTS). The FFA serves low level tasks, such as distinguishing details between similar well-known objects. The OFA and fSTS serve higher level processing tasks, such as connecting a person's identity to their face and processing emotions based on the arrangement of facial features, respectively. Once facial stimuli have been processed, they are then encoded into memory. This involves many brain structures including the medial temporal lobe (MTL), and the hippocampus. Storage and retrieval of these memories involves the same regions of the FFA, PFA, and PPC that performed the initial processing tasks.[9]
## Diagnosis[edit]
The following criteria are used for diagnosing patients with prosopamnesia:[3]
* normal performance on face processing tasks that do not involve memory
* poor performance on tasks involving formation of new face memories
* normal processing of other types of visual stimuli (e.g. color, objects, etc.)
* normal formation of non-face memories (e.g. places, objects, patterns, words, etc.)
In the case of acquired prosopamnesia, recognition of faces must correspond to the timing of the injury, i.e. faces learned before the injury are recognized as familiar and faces encountered after the injury are perceived as unfamiliar.[4]
### Face memory testing[edit]
Standardizing facial memory and perception testing is key for ensuring accurate diagnosis of prosopagnosia and prosopamnesia. Many face perception and memory tests have been developed and used by researchers in the past including the Warrington Recognition Memory for Faces, Benton Facial Recognition Test and later, The Cambridge Face Perception Test and Cambridge Face Memory Test, which were developed in order to address the shortcomings of the first two tests.[10] The Warrington Recognition Memory tests "contain abundant non-internal facial feature information" and the Benton Facial Recognition Test allows the test subject to "rely on feature matching strategies using the hairline and eyebrows rather than recognizing the facial configuration".[11]
The Cambridge Face Perception Test allows participants to look at a target face, while ranking 6 other faces according to their resemblance to the target face.[12] Prosopagnosics will fail this test, while prosopamnesiacs will pass it, making it the hallmark for distinguishing between the two disorders. The Cambridge Face Memory Test gives participants 20 seconds to look over a set of target faces. Subjects are then shown test cases, a lineup of three faces, one of which is from the earlier set of target faces. They are given a score based on how many of the target faces they can properly identify from the test cases. The test is repeated using a different set target faces that have different levels of Gaussian noise. A person with normal face processing abilities will score on average around 80% on this test, while someone with impaired face processing or face memory (prosopamnesiacs) will score well below 50%.
## History[edit]
Prosopamnesia was first proposed as a distinct neurological disorder in 1996.[4] Doctors observed a patient who appeared to have acquired prosopagnosia after an injury to the temporal lobe. This initial patient was unable to recognize faces of people encountered after the onset of injury, but had no problem in recognizing faces of people known previously. This discrepancy caused the doctors to look at the deficit as one involving the encoding of facial memories and not merely perception. This initial case was one of acquired prosopamnesia.
More than a decade later, another group of scientists came across a similar patient. The group initially thought that the patient was prosopagnosic, based on her symptoms. However, upon further investigation, they discovered that the problem was not in the perception of faces, which the patient showed proficiency in based on normal results from the Cambridge Face Perception Test; rather, the patient showed a deficit in remembering facial stimuli, based on poor results from the Cambridge Face Memory Test. Upon this discovery, the doctors found research done in the initial case of prosopamnesia and arrived at the same diagnosis. After this instance, the criteria for diagnosis of prosopamnesia were refined from a list of specific symptoms to a more formal measure which requires a normal score on a facial perception test and a significantly low score on a facial memory test (such as those developed in Cambridge).[13]
In the second case of prosopamnesia diagnosis, the patient reported a lifetime deficit in the ability to remember faces.[3] This indicated that the damage to the face processing neural circuit causing prosopamnesia can be either genetic (developmental type) or incidental brain damage (acquired type).
## Implications for neuroscience[edit]
There are several implications for the neuroscience field that are supported by the discovery of prosopamnesia. Within the neural circuit involved in processing visual stimuli, face processing has its own special circuit.[6] This neural circuit exists at birth, as has been evidenced by newborn babies who show a predisposition to track face-like patterns. Normal babies are also able to recognize familiar faces. This is evidenced by the fact that babies react differently (ex. smile or cry) when approached by people depending on whether or not they are familiar. Based on the theory of evolution, in order for a unique neural circuit to arise and be inherited, it must have provided some distinct survival or fitness advantage. It has been proposed that the ability to recognize faces is important for seeing another person as a friend or an enemy and that over the course of human history, as territorialism made other humans our biggest predators, this ability became crucial for survival. This circuit specializes over time, becoming more adept at distinguishing facial features among familiar people, race-groups, and age-groups. This has led to a phenomenon known as Own Group Bias, in which people are much better at distinguishing among faces of people from their same group.
Another implication of prosopamnesia involves division of labor within the brain. Patients with acquired prosopamnesia are able to recognize faces learned before their brain damage occurred. This implicates the division of labor between initial memory encoding and the storage of information, and also suggests that these tasks are performed in different regions within the brain. The distinction between prosopamnesia as a deficit in encoding face memories and prosopagnosia as a deficit in perceiving facial information also implicates division of labor within the face processing neural circuit.
The fact that there are many divisions of labor within the face processing neural circuit and other neural circuits in general causes difficulties in distinguishing between similar disorders such as prosopagnosia and prosopamnesia. There are many points along any neural processing circuit, in which deficits could cause similar outcomes. This makes it difficult to diagnose the root neurological cause of physical symptoms, a problem experienced across the field of neuroscience.
## See also[edit]
* prosopagnosia
## References[edit]
1. ^ Barton, J. J. (2003). Disorders of face perception and recognition. Neurol Clin, 21(2), 521-548.
2. ^ Davis, J. M., McKone, E., Dennett, H., O'Connor, K. B., O'Kearney, R., & Palermo, R. (2011). Individual Differences in the Ability to Recognise Facial Identity Are Associated with Social Anxiety. [Article]. PLoS ONE, 6(12). doi: e2880010.1371/journal.pone.0028800
3. ^ a b c d Williams, M. A., Berberovic, N., & Mattingley, J. B. (2007). Abnormal fMRI adaptation to unfamiliar faces in a case of developmental prosopamnesia. [Article]. Current Biology, 17(14), 1259-1264. doi: 10.1016/j.cub.2007.06.042
4. ^ a b c Tippett, L. J., Miller, L. A., & Farah, M. J. (1996). A case of prosopamnesia: A selective impairment in learning new faces. [Meeting Abstract]. Brain and Cognition, 30(3), 15-15.
5. ^ Tippett, L. J., Miller, L. A., & Farah, M. J. (2000). Prosopamnesia: A selective impairment in face learning. [Article]. Cognitive Neuropsychology, 17(1-3), 241-255.
6. ^ a b Hole, G. (2010). Face Processing: Psychological, Neuropsychological, and Applied Perspectives. New York: Oxford University Press Inc.
7. ^ Atkinson, A. P., & Adolphs, R. (2011). The neuropsychology of face perception: beyond simple dissociations and functional selectivity. Philosophical Transactions of the Royal Society B-Biological Sciences, 366(1571), 1726-1738. doi: 10.1098/rstb.2010.0349
8. ^ Kanwisher, N., McDermott, J., & Chun, M. M. (1997). The fusiform face area: A module in human extrastriate cortex specialized for face perception. [Article]. Journal of Neuroscience, 17(11), 4302-4311.
9. ^ Miller, B. T., & D'Esposito, M. (2012). Spatial and temporal dynamics of cortical networks engaged in memory encoding and retrieval. [Article]. Frontiers in Human Neuroscience, 6. doi: 109 10.3389/fnhum.2012.00109
10. ^ Duchaine, B., & Nakayama, K. (2006). The Cambridge Face Memory Test: results for neurologically intact individuals and an investigation of its validity using inverted face stimuli and prosopagnosic participants. Neuropsychologia, 44(4), 576-585. doi: 10.1016/j.neuropsychologia.2005.07.001
11. ^ Duchaine, B. C., & Weidenfeld, A. (2003). An evaluation of two commonly used tests of unfamiliar face recognition. Neuropsychologia, 41(6), 713-720. doi: 10.1016/s0028-3932(02)00222-1
12. ^ Duchaine, B., Germine, L., & Nakayama, K. (2007). Family resemblance: Ten family members with prosopagnosia and within-class object agnosia. [Article]. Cognitive Neuropsychology, 24(4), 419-430. doi: 10.1080/02643290701380491
13. ^ Williams, M. (2012, October 18). Interview by C Cuda [Personal Interview]. Prosopamnesia.
## External links[edit]
* Cambridge Facial Memory Test
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Prosopamnesia
|
None
| 25,436 |
wikipedia
|
https://en.wikipedia.org/wiki/Prosopamnesia
| 2021-01-18T19:01:38 |
{"wikidata": ["Q7250686"]}
|
Gastroenterocolitis is a condition characterized by inflammation of the stomach, small intestines, and colon.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Outcomes/prognosis
* 7 References
## Signs and symptoms[edit]
The main symptom of gastroenteritis is diarrhea. Other symptoms may include:
* Abdominal pain or cramping
* Nausea
* Vomiting
* Low grade fever
Because of the symptoms of vomiting and diarrhea, people who have gastroenteritis can become dehydrated quickly. It is very important to watch for signs of dehydration.[1]
## Causes[edit]
Gastroenteritis can be caused by viral, bacterial, or parasitic infections. Common routes of infection include:
* Food
* Contaminated water
* Contact with an infected person
* Unwashed hands[2]
Fifty to seventy percent of cases of gastroenteritis in adults are caused by noroviruses (genus Norovirus, family Caliciviridae). This virus is highly contagious and spreads rapidly. Norovirus is the most common cause of gastroenteritis in the United States.[3]
## Diagnosis[edit]
The doctor will take a medical history to make sure that nothing else is causing the symptoms. Also, the doctor might perform a rectal or abdominal examination to exclude the possibilities of inflammatory bowel disease (e.g., Crohn’s disease) and pelvic abscesses (pockets of pus). A stool culture (a laboratory test to identify bacteria and other organisms from a sample of feces) can be used to determine the specific virus or germ that is causing gastroenteritis.[2]
## Prevention[edit]
With most infections, the key is to block the spread of the organism.
* Wash hands frequently
* Eat properly prepared and stored food.
* Bleach soiled laundry
* Vaccinations for Vibrio cholerae and rotavirus have been developed. Rotavirus vaccination is recommended for infants in the U.S. Vaccines for V. cholerae may be administered to individuals traveling to at-risk areas[4]
## Treatment[edit]
The body can usually fight off the disease on its own. The most important factor when treating gastroenteritis is the replacement of fluids and electrolytes that are lost because of the diarrhea and vomiting.
Antibiotics will not be effective if the cause of gastroenteritis is a viral infection. Doctors usually do not recommend antidiarrheal medications (e.g., Loperamide) for gastroenteritis because they tend to prolong infection, especially in children.[2]
Parasitic infections are difficult to treat. A number of drugs are available once the condition has been identified. Removing part of the colon or needle aspiration of abscesses in liver may be required.[5]
## Outcomes/prognosis[edit]
Depending on the cause of the inflammation, symptoms may last from one day to more than a week.
Gastroenteritis caused by viruses may last one to two days. Most people recover easily from a short episode of vomiting and diarrhea by drinking clear fluids to replace the fluid that was lost and then gradually progressing to a normal diet. But for others, especially infants and the elderly, the loss of bodily fluid with gastroenteritis can cause dehydration, which can be a life-threatening illness unless it is treated and fluids in the body are replaced.[6]
## References[edit]
1. ^ "Gastroenteritis: First aid - Mayo Clinic".
2. ^ a b c "Gastroenteritis (Stomach Flu) Symptoms & More - Cleveland Clinic".
3. ^ "Gastroenteritis (Stomach Flu) Causes, Symptoms, Treatment - What Are the Signs and Symptoms the Stomach Flu (Gastroenteritis)? - eMedicineHealth".
4. ^ "Gastroenteritis in Adults and Older Children: Healthwise Medical Information on eMedicineHealth".
5. ^ "Gastroenteritis - Medical Disability Guidelines".
6. ^ "Stomach Flu (Gastroenteritis) Symptoms, Remedies, Diet & Contagion".
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Gastroenterocolitis
|
c0744314
| 25,437 |
wikipedia
|
https://en.wikipedia.org/wiki/Gastroenterocolitis
| 2021-01-18T19:06:39 |
{"umls": ["C0744314"], "wikidata": ["Q1130192"]}
|
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that mainly affects the digestive system and nervous system. Signs and symptoms most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently and result in early satiety, nausea, dysphagia, gastroesophageal reflux, vomiting after eating (postprandial emesis), episodic abdominal pain and/or distention, and diarrhea . Affected people may also have cachexia, dropped eyelids or weakness of other muscles of the eyes, peripheral neuropathy (manifesting as tingling, numbness, and pain (paresthesias) symmetric weakness, that mainly affect the lower extremities) and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. MNGIE is caused by variations (mutations) in the TYMP gene, important for allowing adequate levels of thymidine in the mitochondria. Inheritance is autosomal recessive.
Diagnosis is confirmed by detecting the TYMP gene variations or the increased levels of thymidine and deoxyuridine in blood. Treatment depends on the problems that present, and may include management of the swallowing difficulties and airway protection; specific medication for neuropathic symptoms and for nausea and vomiting. Other treatment may include nutritional support, antibiotics for intestinal bacterial overgrowth, special education and and physical therapy. It is recommended to avoid medication that interfere with mitochondrial function, such as valproate, phenytoin, chloramphenicol, linezolid, aminoglycosides, and tetracycline.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Mitochondrial neurogastrointestinal encephalopathy syndrome
|
c0872218
| 25,438 |
gard
|
https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome
| 2021-01-18T17:59:01 |
{"mesh": ["C537477"], "omim": ["603041"], "orphanet": ["298"], "synonyms": ["MNGIE", "Myoneurogastrointestinal encephalopathy syndrome", "MNGIE syndrome", "Oculogastrointestinal muscular dystrophy", "OGIMD", "Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction", "POLIP", "Thymidine phosphorylase deficiency"]}
|
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
|
c1860464
| 25,439 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2064
| 2021-01-23T18:36:08 |
{"gard": ["2276"], "mesh": ["C536344"], "omim": ["192800"], "umls": ["C1860464"], "icd-10": ["Q87.5"], "synonyms": ["Faulk-Epstein-Jones syndrome"]}
|
This article is about infection by the young form of the worms. For the organism, see Taenia solium.
Tissue infection caused by the young form of the pork tapeworm
Cysticercosis
Magnetic resonance image in a person with neurocysticercosis showing many cysts within the brain.
SpecialtyInfectious disease
Symptoms1–2 cm lumps under the skin[1]
ComplicationsNeurocysticercosis[2]
DurationLong term[3]
CausesEating tapeworm eggs (fecal oral transmission)[1]
Diagnostic methodaspiration of a cyst[2]
PreventionImproved sanitation, treating those with taeniasis, cooking pork well[1]
TreatmentNone, medications[2]
MedicationPraziquantel, albendazole, corticosteroids, anti seizure medications[1]
Frequency1.9 million[4]
Deaths400[5]
Cysticercosis is a tissue infection caused by the young form of the pork tapeworm.[6][1] People may have few or no symptoms for years.[3][2] In some cases, particularly in Asia, solid lumps of between one and two centimetres may develop under the skin.[1] After months or years these lumps can become painful and swollen and then resolve.[3][2] A specific form called neurocysticercosis, which affects the brain, can cause neurological symptoms.[2] In developing countries this is one of the most common causes of seizures.[2]
Cysticercosis is usually acquired by eating food or drinking water contaminated by tapeworm eggs from human feces.[1] Among foods, uncooked vegetables are the major source.[1] The tapeworm eggs are present in the feces of a person infected with the adult worms, a condition known as taeniasis.[2][7] Taeniasis, in the strict sense, is a different disease and is due to eating cysts in poorly cooked pork.[1] People who live with someone with the pork tapeworm have a greater risk of getting cysticercosis.[7] The diagnosis can be made by aspiration of a cyst.[2] Taking pictures of the brain with computer tomography (CT) or magnetic resonance imaging (MRI) are most useful for the diagnosis of disease in the brain.[2] An increased number of a type of white blood cell, called eosinophils, in the cerebral spinal fluid and blood is also an indicator.[2]
Infection can be effectively prevented by personal hygiene and sanitation:[1] this includes cooking pork well, proper toilets and sanitary practices, and improved access to clean water.[1] Treating those with taeniasis is important to prevent spread.[1] Treating the disease when it does not involve the nervous system may not be required.[2] Treatment of those with neurocysticercosis may be with the medications praziquantel or albendazole.[1] These may be required for long periods.[1] Steroids, for anti-inflammation during treatment, and anti-seizure medications may also be required.[1] Surgery is sometimes done to remove the cysts.[1]
The pork tapeworm is particularly common in Asia, Sub-Saharan Africa, and Latin America.[2] In some areas it is believed that up to 25% of people are affected.[2] In the developed world it is very uncommon.[8] Worldwide in 2015 it caused about 400 deaths.[5] Cysticercosis also affects pigs and cows but rarely causes symptoms as most are slaughtered before symptoms arise.[1] The disease has occurred in humans throughout history.[8] It is one of the neglected tropical diseases.[9]
## Contents
* 1 Signs and symptoms
* 1.1 Muscles
* 1.2 Nervous system
* 1.3 Eyes
* 1.4 Skin
* 2 Cause
* 3 Diagnosis
* 3.1 Serological
* 3.2 Neurocysticercosis
* 3.2.1 Imaging
* 3.2.2 CSF
* 4 Prevention
* 4.1 Pigs
* 4.2 Limitations
* 4.3 Vaccines
* 4.3.1 S3PVAC vaccine
* 4.4 Other
* 5 Management
* 5.1 Neurocysticercosis
* 5.2 Eyes
* 5.3 Skin
* 6 Epidemiology
* 6.1 Regions
* 6.2 Infection estimates
* 6.3 Deaths
* 7 History
* 8 Society and culture
* 9 See also
* 10 References
* 11 External links
## Signs and symptoms[edit]
### Muscles[edit]
Cysticerci can develop in any voluntary muscle. Invasion of muscle can cause inflammation of the muscle, with fever, eosinophilia, and increased size, which initiates with muscle swelling and later progress to atrophy and scarring. In most cases, it is asymptomatic since the cysticerci die and become calcified.[10]
### Nervous system[edit]
The term neurocysticercosis is generally accepted to refer to cysts in the parenchyma of the brain. It presents with seizures and, less commonly, headaches.[11] Cysticerca in brain parenchyma are usually 5–20 mm in diameter. In subarachnoid space and fissures, lesions may be as large as 6 cm in diameter and lobulated. They may be numerous and life-threatening.[12]
Cysts located within the ventricles of the brain can block the outflow of cerebrospinal fluid and present with symptoms of increased intracranial pressure.[13]
Racemose neurocysticercosis refers to cysts in the subarachnoid space. These can occasionally grow into large lobulated masses causing pressure on surrounding structures.[14]
Spinal cord neurocysticercosis most commonly presents symptoms such as back pain and radiculopathy.[15]
### Eyes[edit]
In some cases, cysticerci may be found in the eyeball, extraocular muscles, and under the conjunctiva (subconjunctiva). Depending on the location, they may cause visual difficulties that fluctuate with eye position, retinal edema, hemorrhage, a decreased vision or even a visual loss.[10]
### Skin[edit]
Main article: Cysticercosis cutis
Subcutaneous cysts are in the form of firm, mobile nodules, occurring mainly on the trunk and extremities.[16] Subcutaneous nodules are sometimes painful.
## Cause[edit]
Life cycle of Taenia solium
The cause of human cysticercosis is the egg form of Taenia solium (often abbreviated as T. solium and also called pork tapeworm), which is transmitted through the oral-fecal route. Eggs are accidentally ingested from contaminated water or vegetables. The eggs enter the intestine where they develop into larvae. The larvae enter the bloodstream and invade host tissues, where they further develop into larvae called cysticerci. The cysticercus larva completes development in about 2 months. It is semitransparent, opalescent white, and elongate oval in shape and may reach a length of 0.6 to 1.8 cm.[10]
## Diagnosis[edit]
The traditional method of demonstrating either tapeworm eggs or proglottids in stool samples diagnoses only taeniasis, carriage of the tapeworm stage of the life cycle.[7] Only a small minority of patients with cysticercosis will harbor a tapeworm, rendering stool studies ineffective for diagnosis.[17] Ophthalmic cysticercosis can be diagnosed by visualizing parasite in eye by fundoscopy.[citation needed]
In cases of human cysticercosis, diagnosis is a sensitive problem and requires biopsy of the infected tissue or sophisticated instruments.[18] Taenia solium eggs and proglottids found in feces, ELISA, or polyacrylamide gel electrophoresis diagnose only taeniasis and not cysticercosis. Radiological tests, such as X-ray, CT scans which demonstrate "ring-enhancing brain lesions", and MRIs, can also be used to detect diseases. X-rays are used to identify calcified larvae in the subcutaneous and muscle tissues, and CT scans and MRIs are used to find lesions in the brain.[19][20]
### Serological[edit]
Antibodies to cysticerci can be demonstrated in serum by enzyme linked immunoelectrotransfer blot (EITB) assay and in CSF by ELISA. An immunoblot assay using lentil-lectin (agglutinin from Lens culinaris) is highly sensitive and specific. However, individuals with intracranial lesions and calcifications may be seronegative. In the CDC's immunoblot assay, cysticercosis-specific antibodies can react with structural glycoprotein antigens from the larval cysts of Taenia solium.[7] However, this is mainly a research tool not widely available in clinical practice and nearly unobtainable in resource limited settings.[citation needed]
### Neurocysticercosis[edit]
The diagnosis of neurocysticercosis is mainly clinical, based on a compatible presentation of symptoms and findings of imaging studies.[citation needed]
#### Imaging[edit]
Neuroimaging with CT or MRI is the most useful method of diagnosis. CT scan shows both calcified and uncalcified cysts, as well as distinguishing active and inactive cysts. Cystic lesions can show ring enhancement and focal enhancing lesions. Some cystic lesions, especially the ones in ventricles and subarachnoid space may not be visible on CT scan, since the cyst fluid is isodense with cerebrospinal fluid (CSF). Thus diagnosis of extraparenchymal cysts usually relies on signs like hydrocephalus or enhanced basilar meninges. In such cases CT scan with intraventricular contrast or MRI can be used. MRI is more sensitive in detection of intraventricular cysts.[21][22]
#### CSF[edit]
CSF findings include pleocytosis, elevated protein levels and depressed glucose levels; but these may not be always present.[citation needed]
## Prevention[edit]
Cysticercosis is considered as “tools-ready disease” according to WHO.[23] International Task Force for Disease Eradication in 1992 reported that cysticercosis is potentially eradicable.[24] It is feasible because there are no animal reservoirs besides humans and pigs. The only source of Taenia solium infection for pigs is from humans, a definite host. Theoretically, breaking the life cycle seems easy by doing intervention strategies from various stages in the life cycle.[25]
For example,
1. Massive chemotherapy of infected individuals, improving sanitation, and educating people are all major ways to discontinue the cycle, in which eggs from human feces are transmitted to other humans and/or pigs.
2. Cooking of pork or freezing it and inspecting meat are effective means to cease the life cycle
3. The management of pigs by treating them or vaccinating them is another possibility to intervene
4. The separation of pigs from human faeces by confining them in enclosed piggeries. In Western European countries post World War 2 the pig industry developed rapidly and most pigs were housed.[26] This was the main reason for pig cysticercosis largely being eliminated from the region. This of course is not a quick answer to the problem in developing countries.
### Pigs[edit]
The intervention strategies to eradicate cysticercosis includes surveillance of pigs in foci of transmission and massive chemotherapy treatment of humans.[24] In reality, control of T. solium by a single intervention, for instance, by treating only human population will not work because the existing infected pigs can still carry on the cycle. The proposed strategy for eradication is to do multilateral intervention by treating both human and porcine populations.[27] It is feasible because treating pigs with oxfendazole has been shown to be effective and once treated, pigs are protected from further infections for at least 3 months.[28]
### Limitations[edit]
Even with the concurrent treatment of humans and pigs, complete elimination is hard to achieve. In one study conducted in 12 villages in Peru, both humans and porcine were treated with praziquantel and oxfendazole, with the coverage of more than 75% in humans and 90% in pigs[29] The result shows a decrease in prevalence and incidence in the intervention area; however the effect did not completely eliminate T. solium. The possible reason includes the incomplete coverage and re-infection.[30] Even though T. solium could be eliminated through mass treatment of human and porcine population, it is not sustainable.[27] Moreover, both tapeworm carriers of humans and pigs tend to spread the disease from endemic to non-endemic areas resulting in periodic outbreaks of cysticercosis or outbreaks in new areas.[31][32]
### Vaccines[edit]
Given the fact that pigs are part of a life cycle, vaccination of pigs is another feasible intervention to eliminate cysticercosis. Research studies have been focusing on vaccine against cestode parasites, since many immune cell types are found to be capable of destroying cysticercus.[33] Many vaccine candidates are extracted from antigens of different cestodes such as Taenia solium, T. crassiceps, T. saginata, T. ovis and target oncospheres and/or cysticerci. In 1983, Molinari et al. reported the first vaccine candidate against porcine cysticercosis using antigen from cysticercus cellulosae drawn out from naturally infected.[34] Recently, vaccines extracted from genetically engineered 45W-4B antigens have been successfully tested to pigs in an experimental condition.[35] This type of vaccine can protect against cysticercosis in both Chinese and Mexican type of T. solium. However, it has not been tested in endemic field conditions, which is important because the realistic condition in the field differ greatly from experimental condition, and this can result in a great difference in the chances of infection and immune reaction.[33]
Even though vaccines have been successfully generated, the feasibility of its production and usage in rural free ranging pigs still remains a challenge. If a vaccine is to be injected, the burden of work and the cost of vaccine administration to pigs will remain high and unrealistic.[33] The incentives of using vaccines by pig owners will decrease if the vaccine administration to pigs takes time by injecting every single pig in their livestock. A hypothetical oral vaccine is proposed to be more effective in this case as it can be easily delivered to the pigs by food.[33]
#### S3PVAC vaccine[edit]
The vaccine constituted by 3 peptide synthetically produced (S3Pvac) has proven its efficacy in natural conditions of transmission.[36] The S3PVAC vaccine so far, can be considered as the best vaccine candidate to be used in endemic areas such as Mexico (20). S3Pvac consists of three protective peptides: KETc12, KETc1 and GK1, whose sequences belong to native antigens that are present in the different developmental stages of T. solium and other cestode parasites.[33][37]
Non-infected pigs from rural villages in Mexico were vaccinated with S3Pvac and the vaccine reduced 98% the number of cysticerci and 50% the number of prevalence.[36][38] The diagnostic method involves necropsy and tongue inspection of pigs. The natural challenge conditions used in the study proved the efficacy of the S3Pvac vaccine in transmission control of T. solium in Mexico.[33] The S3Pvac vaccine is owned by the National Autonomous University of Mexico and the method of high scale production of the vaccine has already been developed.[33] The validation of the vaccine in agreement with the Secretary of Animal Health in Mexico is currently in the process of completion.[39] It is also hoped that the vaccine will be well-accepted by pig owners because they also lose their income if pigs are infected cysticercosis.[39] Vaccination of pigs against cysticercosis, if succeeded, can potentially have a great impact on transmission control since there is no chance of re-infection once pigs receive vaccination.[citation needed]
### Other[edit]
Cysticercosis can also be prevented by routine inspection of meat and condemnation of measly meat by the local government and by avoiding partially cooked meat products. However, in areas where food is scarce, cyst-infected meat might be considered as wasted since pork can provide high quality protein.[40] At times, infected pigs are consumed within the locality or sold at low prices to traffickers who take the uninspected pigs at urban areas for sale.[41]
## Management[edit]
### Neurocysticercosis[edit]
Asymptomatic cysts, such as those discovered incidentally on neuroimaging done for another reason, may never lead to symptomatic disease and in many cases do not require therapy. Calcified cysts have already died and involuted. Further antiparasitic therapy will be of no benefit.[citation needed]
Neurocysticercosis may present as hydrocephalus and acute onset seizures, thus the immediate therapy is emergent reduction of intracranial pressure and anticonvulsant medications. Once the seizures have been brought under control, antihelminthic treatments may be undertaken. The decision to treat with antiparasitic therapy is complex and based on the stage and number of cysts present, their location, and the persons specific symptoms.[42]
Adult Taenia solium are easily treated with niclosamide, and is most commonly used in taeniasis. However cysticercosis is a complex disease and requires careful medication. Praziquantel (PZQ) is the drug of choice. In neurocysticercosis praziquantel is widely used.[43] Albendazole appears to be more effective and a safe drug for neurocysticercosis.[44][45] In complicated situation a combination of praziquantel, albendazole and steroid (such as corticosteroids to reduce the inflammation) is recommended.[46] In the brain the cysts can be usually found on the surface. Most cases of brain cysts are found by accident, during diagnosis for other ailments. Surgical removals are the only option of complete removal even if treated successfully with medications.[19]
Antiparasitic treatment should be given in combination with corticosteroids and anticonvulsants to reduce inflammation surrounding the cysts and lower the risk of seizures. When corticosteroids are given in combination with praziquantel, cimetidine is also given, as corticosteroids decrease action of praziquantel by enhancing its first pass metabolism. Albendazole is generally preferable over praziquantel due to its lower cost and fewer drug interactions.[44]
Surgical intervention is much more likely to be needed in cases of intraventricular, racemose, or spinal neurocysticercosis. Treatments includes direct excision of ventricular cysts, shunting procedures, and removal of cysts via endoscopy.[citation needed]
### Eyes[edit]
In eye disease, surgical removal is necessary for cysts within the eye itself as treating intraocular lesions with anthelmintics will elicit an inflammatory reaction causing irreversible damage to structural components. Cysts outside the globe can be treated with anthelmintics and steroids. Treatment recommendations for subcutaneous cysticercosis includes surgery, praziquantel and albendazole.[16]
### Skin[edit]
In general, subcutaneous disease does not need specific therapy. Painful or bothersome cysts can be surgically removed.[citation needed]
## Epidemiology[edit]
### Regions[edit]
Taenia solium is found worldwide, but is more common where pork is part of the diet. Cysticercosis is most prevalent where humans live in close contact with pigs. Therefore, high prevalences are reported in Mexico, Latin America, West Africa, Russia, India, Pakistan, North-East China, and Southeast Asia.[47] In Europe it is most widespread among Slavic people.[19][48] However, reviews of the epidemiological in Western and Eastern Europe shows there are still considerable gaps in our understanding of the disease also in these regions.[49][50]
The frequency has decreased in developed countries owing to stricter meat inspection, better hygiene and better sanitation of facilities.[citation needed]
### Infection estimates[edit]
In Latin America, an estimated 75 million persons live in endemic areas and 400,000 people have symptomatic disease.[51] Some studies suggest that the prevalence of cysticercosis in Mexico is between 3.1 and 3.9 percent. Other studies have found the seroprevalence in areas of Guatemala, Bolivia, and Peru as high as 20 percent in humans, and 37 percent in pigs.[52] In Ethiopia, Kenya and the Democratic Republic of Congo around 10% of the population is infected, in Madagascar 16%. The distribution of cysticercosis coincides with the distribution of T. solium.[53] Cysticercosis is the most common cause of symptomatic epilepsy worldwide.[54]
Prevalence rates in the United States have shown immigrants from Mexico, Central and South America, and Southeast Asia account for most of the domestic cases of cysticercosis.[55]
In 1990 and 1991, four unrelated members of an Orthodox Jewish community in New York City developed recurrent seizures and brain lesions, which were found to have been caused by T. solium. All of the families had housekeepers from Latin American countries and were suspected to be source of the infections.[56][57]
### Deaths[edit]
Worldwide as of 2010 it caused about 1,200 deaths, up from 700 in 1990.[58] Estimates from 2010 were that it contributed to at least 50,000 deaths annually.[59]
In US during 1990–2002, 221 cysticercosis deaths were identified. Mortality rates were highest for Latinos and men. The mean age at death was 40.5 years (range 2–88). Most patients, 84.6%, were foreign born, and 62% had emigrated from Mexico. The 33 US-born persons who died of cysticercosis represented 15% of all cysticercosis-related deaths. The cysticercosis mortality rate was highest in California, which accounted for 60% of all cysticercosis deaths.[60]
## History[edit]
Scolex (head) of Taenia solium
The earliest reference to tapeworms were found in the works of ancient Egyptians that date back to almost 2000 BC.[61] The description of measled pork in the History of Animals written by Aristotle (384–322 BC) showed that the infection of pork with tapeworm was known to ancient Greeks at that time.[61] It was also known to Jewish[62] and later to early Muslim physicians and has been proposed as one of the reasons for pork being forbidden by Jewish and Islamic dietary laws.[63] Recent examination of evolutionary histories of hosts and parasites and DNA evidence show that over 10,000 years ago, ancestors of modern humans in Africa became exposed to tapeworm when they scavenged for food or preyed on antelopes and bovids, and later passed the infection on to domestic animals such as pigs.[64]
Cysticercosis was described by Johannes Udalric Rumler in 1555; however, the connection between tapeworms and cysticercosis had not been recognized at that time.[65] Around 1850, Friedrich Küchenmeister fed pork containing cysticerci of T. solium to humans awaiting execution in a prison, and after they had been executed, he recovered the developing and adult tapeworms in their intestines.[61][65] By the middle of the 19th century, it was established that cysticercosis was caused by the ingestion of the eggs of T. solium.[66]
## Society and culture[edit]
* The first patient on the television show House (in the pilot episode) had cysticercosis.[citation needed]
* In the crossover of the series Grey's Anatomy (season 5, episode 15) and Private Practice (season 2), Archer Montgomery, brother of Addison Forbes Montgomery, suffered from neurocysticercosis. He was cured via the surgical removal of the cysts by his former brother-in-law Derek Shepherd.[citation needed]
## See also[edit]
* Coenurosis
* Coenurosis in humans
* Echinococcosis
* Trichinosis
## References[edit]
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30. ^ Gilman, R.H.; Garcia, H.H.; Gonzalez, A.E.; Dunleavy, M.; Verastegui, M. (1999). "Short cuts to development: methods to control the transmission of cysticercosis in developing countries". In García, H.H.; Martínez, M. (eds.). Taenia solium taeniasis/cysticercosis. Lima: Editorial Universo. pp. 313–326. ISBN 978-9972910203.
31. ^ Margono SS, Subahar R, Hamid A, et al. (2001). "Cysticercosis in Indonesia: epidemiological aspects". Southeast Asian J. Trop. Med. Public Health. 32 (Suppl 2): 79–84. PMID 12041608.
32. ^ Wandra T, Subahar R, Simanjuntak GM, et al. (2000). "Resurgence of cases of epileptic seizures and burns associated with cysticercosis in Assologaima, Jayawijaya, Irian Jaya, Indonesia, 1991–95". Trans. R. Soc. Trop. Med. Hyg. 94 (1): 46–50. doi:10.1016/s0035-9203(00)90433-4. PMID 10748897.
33. ^ a b c d e f g Sciutto E, Fragoso G, de Aluja AS, Hernández M, Rosas G, Larralde C (2008). "Vaccines against cysticercosis". Curr Top Med Chem. 8 (5): 415–23. doi:10.2174/156802608783790839. PMID 18393905.
34. ^ Molinari JL, Meza R, Suárez B, Palacios S, Tato P, Retana A (June 1983). "Taenia solium: immunity in hogs to the Cysticercus". Exp. Parasitol. 55 (3): 340–57. doi:10.1016/0014-4894(83)90031-0. PMID 6852171.
35. ^ Luo X, Zheng Y, Hou J, Zhang S, Cai X (February 2009). "Protection against Asiatic Taenia solium induced by a recombinant 45W-4B protein". Clin. Vaccine Immunol. 16 (2): 230–2. doi:10.1128/CVI.00367-08. PMC 2643551. PMID 19091992.
36. ^ a b Huerta M, De Aluja AS, Fragoso G, Toledo A, Villalobos N, Hernandez M, Gevorkian G, Acero G, Diaz A, et al. (2001). "Synthetic peptide vaccine against Taenia solium pig cysticercosis: successful vaccination in a controlled field trial in rural Mexico". Vaccine. 20 (1–2): 262–6. doi:10.1016/S0264-410X(01)00249-3. PMID 11567772.
37. ^ http://www-lab.biomedicas.unam.mx/cistimex/s1.html#capitulo6 Archived 2009-03-07 at the Wayback Machine
38. ^ Sciutto E, Morales J, Martinez JJ, Toledo A, Villalobos MN, Cruz-Revilla C, Meneses G, Hernandez M, Diaz A, et al. (2007). "Further evaluation of the synthetic peptide vaccine S3Pvac against Taenia solium cysticercosis in pigs in an endemic town of Mexico". Parasitology. 134 (Pt 1): 129–33. doi:10.1017/S0031182006001132. PMID 16948875.
39. ^ a b E-mail interview with Edda Sciutto. Feb 26 2009.
40. ^ CWGESA. 5th General Assembly of the Cysticercosis Working Group in Eastern and Southern Africa. 2007. CIRADhttp://pigtrop.cirad.fr/sp/recursos/publications/procedimientos/5th_general_assembly_of_the_cysticercosis_working_group_in_eastern_and_southern_africa
41. ^ Morales J, Martínez JJ, Garcia-Castella J, et al. (March 2006). "Taenia solium: the complex interactions, of biological, social, geographical and commercial factors, involved in the transmission dynamics of pig cysticercosis in highly endemic areas". Ann Trop Med Parasitol. 100 (2): 123–35. doi:10.1179/136485906x86275. PMID 16492360. S2CID 5707291.
42. ^ White AC (May 2009). "New developments in the management of neurocysticercosis". J. Infect. Dis. 199 (9): 1261–2. doi:10.1086/597758. PMID 19358667.
43. ^ Pawlowski ZS (2006). "Role of chemotherapy of taeniasis in prevention of neurocysticercosis". Parasitol. Int. 55 (Suppl): S105–9. doi:10.1016/j.parint.2005.11.017. PMC 7108384. PMID 16356763.
44. ^ a b Matthaiou DK, Panos G, Adamidi ES, Falagas ME (2008). Carabin H (ed.). "Albendazole versus Praziquantel in the Treatment of Neurocysticercosis: A Meta-analysis of Comparative Trials". PLOS Neglected Tropical Diseases. 2 (3): e194. doi:10.1371/journal.pntd.0000194. PMC 2265431. PMID 18335068.
45. ^ Garcia HH; Pretell EJ; Gilman RH; Martinez SM; Moulton LH; Del Brutto OH; Herrera G; Evans CA; Gonzalez AE; Cysticercosis Working Group in Peru (2004). "A trial of antiparasitic treatment to reduce the rate of seizures due to cerebral cysticercosis" (PDF). N Engl J Med. 350 (3): 249–258. doi:10.1056/NEJMoa031294. PMID 14724304.
46. ^ "Taeniasis/Cysticercosis". World Health Organization. Archived from the original on 21 February 2014. Retrieved 6 February 2014.
47. ^ Reeder, P.E.S. Palmer, M.M. (2001). Imaging of Tropical Diseases : With Epidemiological, Pathological, and Clinical Correlation (2 (revised) ed.). Heidelberg, Germany: Springer-Verlag. pp. 641–642. ISBN 978-3-540-56028-9. Archived from the original on 2016-05-19.
48. ^ Hansen, NJ; Hagelskjaer, LH; Christensen, T (1992). "Neurocysticercosis: a short review and presentation of a Scandinavian case". Scandinavian Journal of Infectious Diseases. 24 (3): 255–62. doi:10.3109/00365549209061330. PMID 1509231.
49. ^ Laranjo-González, M; Devleesschauwer, B; Trevisan, C; Allepuz, A; Sotiraki, S; Abraham, A; Afonso, MB; Blocher, J; Cardoso, L; Correia da Costa, JM; Dorny, P; Gabriël, S; Gomes, J; Gómez-Morales, MÁ; Jokelainen, P; Kaminski, M; Krt, B; Magnussen, P; Robertson, LJ; Schmidt, V; Schmutzhard, E; Smit, GSA; Šoba, B; Stensvold, CR; Starič, J; Troell, K; Rataj, AV; Vieira-Pinto, M; Vilhena, M; Wardrop, NA; Winkler, AS; Dermauw, V (2017). "Epidemiology of taeniosis/cysticercosis in Europe, a systematic review: Western Europe". Parasit Vectors. 10 (1): 349. doi:10.1186/s13071-017-2280-8. PMC 5521153. PMID 28732550.
50. ^ Trevisan, C.; Sotiraki, S.; Laranjo-González, M.; Dermauw, V.; Wang, Z.; Kärssin, A.; Cvetkovikj, A.; Winkler, A.S.; Abraham, A.; Bobić, B.; Lassen, B.; Cretu, C.M.; Vasile, C.; Arvanitis, D.; Deksne, G.; Boro, I.; Kucsera, I.; Karamon, J.; Stefanovska, J.; Koudela, B.; Pavlova, M.J.; Varady, V.; Pavlak, M.; Šarkūnas, M.; Kaminski, M.; Djurković-Djaković, O.; Jokelainen, P.; Jan, D.S.; Schmidt, V.; Dakić, Z.; Gabriël, S.; Dorny, P.; Devleesschauwer, B. (2018). "Epidemiology of taeniosis/cysticercosis in Europe, a systematic review: eastern Europe". Parasit Vectors. 11 (1): 569. doi:10.1186/s13071-018-3153-5. PMC 6208121. PMID 30376899.
51. ^ Bern C, Garcia HH, Evans C, et al. (November 1999). "Magnitude of the disease burden from neurocysticercosis in a developing country". Clin. Infect. Dis. 29 (5): 1203–9. doi:10.1086/313470. PMC 2913118. PMID 10524964.
52. ^ Yeh J, Sheffield JS (April 2008). "Cysticercosis: A Zebra in the Neighborhood". Virtual Mentor. 10 (4): 220–3. doi:10.1001/virtualmentor.2008.10.4.cprl1-0804. PMID 23206912. Archived from the original on 2009-02-19. Retrieved 2009-02-20.
53. ^ "Taeniasis/Cysticercosis". Zoonoses. World Health Organization. Archived from the original on 2008-10-09.
54. ^ "Relationship between epilepsy and tropical diseases. Commission on Tropical Diseases of the International League Against Epilepsy". Epilepsia. 35 (1): 89–93. 1994. doi:10.1111/j.1528-1157.1994.tb02916.x. PMID 8112262. S2CID 221733822.
55. ^ Flisser A. (May 1988). "Neurocysticercosis in Mexico". Parasitology Today. 4 (5): 131–137. doi:10.1016/0169-4758(88)90187-1. PMID 15463066.
56. ^ Dworkin, Mark S. (2010). Outbreak Investigations Around the World: Case Studies in Infectious Disease. Jones and Bartlett Publishers. pp. 192–196. ISBN 978-0-7637-5143-2. Retrieved August 9, 2011.
57. ^ Schantz, Peter M.; Moore, Anne C.; et al. (September 3, 1992). "Neurocysticercosis in an Orthodox Jewish Community in New York City". New England Journal of Medicine. 327 (10): 692–695. doi:10.1056/NEJM199209033271004. PMID 1495521.
58. ^ Lozano R, Naghavi M, Foreman K, et al. (December 2012). "Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2095–128. doi:10.1016/S0140-6736(12)61728-0. hdl:10536/DRO/DU:30050819. PMID 23245604. S2CID 1541253.
59. ^ Román, G.; Sotelo, J.; Del Brutto, O.; Flisser, A.; Dumas, M.; Wadia, N.; Botero, D.; Cruz, M.; Garcia, H.; de Bittencourt, P. R.; Trelles, L.; Arriagada, C.; Lorenzana, P.; Nash, T. E.; Spina-França, A. (2000). "A proposal to declare neurocysticercosis an international reportable disease". Bulletin of the World Health Organization. 78 (3): 399–406. ISSN 0042-9686. PMC 2560715. PMID 10812740.
60. ^ Sorvillo FJ, DeGiorgio C, Waterman SH (February 2007). "Deaths from cysticercosis, United States". Emerging Infect. Dis. 13 (2): 230–5. doi:10.3201/eid1302.060527. PMC 2725874. PMID 17479884.
61. ^ a b c Wadia, N.H.; Singh, G. (2002). "Taenia Solium: A Historical Note". In Singh, G.; Prabhakar, S. (eds.). Taenia Solium Cysticercosis: From Basic to Clinical Science. CABI Publishing. pp. 157–168. ISBN 978-0851996288.
62. ^ Ancient Hebrew Medicine<"Archived copy". Archived from the original on 2011-02-26. Retrieved 2011-03-17.CS1 maint: archived copy as title (link)>
63. ^ del Brutto, O.H.; Sotelo, J.; Román, G.C. (1998). Neurocysticercosis. Taylor and Francis. p. 3. ISBN 978-90-265-1513-2.
64. ^ Becker H (May 2001). "Out of Africa: The Origins of the Tapeworms". Agricultural Research Magazine. 49 (5). Archived from the original on 2009-03-10.
65. ^ a b Cox FE (October 2002). "History of human parasitology". Clin. Microbiol. Rev. 15 (4): 595–612. doi:10.1128/CMR.15.4.595-612.2002. PMC 126866. PMID 12364371.
66. ^ Küchenmeister, F. The Cysticercus cellulosus transformed within the organism of man into Taenia solium. Lancet 1861 i:39.
## External links[edit]
Wikipedia's health care articles can be viewed offline with the Medical Wikipedia app.
* "Taenia solium". NCBI Taxonomy Browser. 6204.
Classification
D
* ICD-10: B69
* ICD-9-CM: 123.1
* MeSH: D003551
* DiseasesDB: 3341
External resources
* MedlinePlus: 000627
* eMedicine: emerg/119 med/494 ped/537
* Scholia: Q246068
* 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
* Dicrocoelium dendriticum / D. hospes
* Dicrocoeliasis
* Fasciola hepatica / F. gigantica
* Fasciolosis
* Opisthorchis viverrini / O. felineus
* Opisthorchiasis
Lung fluke
* Paragonimus westermani / P. kellicotti
* Paragonimiasis
Intestinal fluke
* Fasciolopsis buski
* Fasciolopsiasis
* Metagonimus yokogawai
* Metagonimiasis
* Heterophyes heterophyes
* Heterophyiasis
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
* Spirometra erinaceieuropaei
* Sparganosis
* Diphyllobothrium mansonoides
* Sparganosis
Roundworm/
Nematode
infection
Secernentea
Spiruria
Camallanida
* Dracunculus medinensis
* Dracunculiasis
Spirurida
Filarioidea
(Filariasis)
* Onchocerca volvulus
* Onchocerciasis
* Loa loa
* Loa loa filariasis
* Mansonella
* Mansonelliasis
* Dirofilaria repens
* D. immitis
* Dirofilariasis
* Wuchereria bancrofti / Brugia malayi / |B. timori
* Lymphatic filariasis
Thelazioidea
* Gnathostoma spinigerum / G. hispidum
* Gnathostomiasis
* Thelazia
* Thelaziasis
Spiruroidea
* Gongylonema
Strongylida
(hookworm)
* Hookworm infection
* Ancylostoma duodenale / A. braziliense
* Ancylostomiasis / Cutaneous larva migrans
* Necator americanus
* Necatoriasis
* Angiostrongylus cantonensis
* Angiostrongyliasis
* Metastrongylus
* Metastrongylosis
Ascaridida
* Ascaris lumbricoides
* Ascariasis
* Anisakis
* Anisakiasis
* Toxocara canis / T. cati
* Visceral larva migrans / Toxocariasis
* Baylisascaris
* Dioctophyme renale
* Dioctophymosis
* Parascaris equorum
Rhabditida
* Strongyloides stercoralis
* Strongyloidiasis
* Trichostrongylus spp.
* Trichostrongyliasis
* Halicephalobus gingivalis
Oxyurida
* Enterobius vermicularis
* Enterobiasis
Adenophorea
* Trichinella spiralis
* Trichinosis
* Trichuris trichiura (Trichuriasis / Whipworm)
* Capillaria philippinensis
* Intestinal capillariasis
* C. hepatica
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cysticercosis
|
c0010678
| 25,440 |
wikipedia
|
https://en.wikipedia.org/wiki/Cysticercosis
| 2021-01-18T18:48:19 |
{"gard": ["8194"], "mesh": ["D003551"], "umls": ["C0010678"], "icd-10": ["B69"], "orphanet": ["1560"], "wikidata": ["Q246068"]}
|
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each 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
|
Bilateral frontoparietal polymicrogyria
|
c1847352
| 25,441 |
gard
|
https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria
| 2021-01-18T18:01:48 |
{"mesh": ["C564652"], "omim": ["606854"], "orphanet": ["101070"], "synonyms": ["BFPP", "Cerebellar ataxia with neuronal migration defect"]}
|
HIV is recognized as a health concern in Pakistan with the number of cases growing. Moderately high drug use and lack of acceptance that non-marital sex is common in the society have allowed the HIV epidemic to take hold in Pakistan, mainly among injecting drug users (IDU), male, female and transvestite sex workers (MSW, FSW and TSW) as well as the repatriated migrant workers. HIV infection can lead to AIDS that may become a major health issue.[1]
The National AIDS Programme's latest figures show that by the mid-2000s, the number of HIV cases had increased to approximately 0,102 million.[2] This number was estimated little over 4,000, as the HIV cases reported since 1986. The UN and government estimated the number of HIV/AIDS cases around 97,000 ranging from a lowest estimate of 46,000 to a highest estimate of 210,000.[3]
More realistic estimates that are based on actual surveillance figures, however, suggest that this number may be closer to 40,000–45,000. The overall prevalence of HIV infection in adults aged 15 to 49 is 0.1%.[4] (0.05% if one accepts the lower estimates). Officials say that the majority of cases go unreported due to social taboos about sex and victims’ fears of discrimination.[1] The other reason for all the cases not being reported is that HIV is a disease either not systematically tested for or reported in the routine surveillance system.
## Contents
* 1 Evolving phases of HIV epidemic
* 2 Escalating epidemic - mainly in high risk groups
* 3 Disease transmission by inappropriate use of therapeutic injections
* 4 National response to HIV epidemic
* 5 Future of HIV in Pakistan and response
* 6 References
* 7 External links
## Evolving phases of HIV epidemic[edit]
HIV epidemic evolves in three phases. First phase is low prevalence, when prevalence of the disease is less than 5% in any high-risk group of the country. Second phase is concentrated epidemic when proportion of infected people in any high-risk group rises more than 5%. Third and last phase of epidemic is generalized epidemic when prevalence of HIV infection rises over 1% among blood donor or pregnant women. Like other Asian countries, Pakistan is following a comparable HIV epidemic trend having moved from ‘low prevalence, high risk’ to ‘concentrated’ epidemic in the early to mid-2000s. Pakistan's epidemic is primarily concentrated among two of the key population groups driving the epidemic in the country. These are people who inject drugs, with a national prevalence of 27.2% (weighted prevalence of 37.8%); followed by transgender sex workers, standing at 5.2% and then 1.6% among male sex Workers. The prevalence in female sex workers still remains low at 0.6%. The geographic trend of key populations is from major urban cities and provincial capitals, expanding over time to smaller cities and peripheries.[5]
## Escalating epidemic - mainly in high risk groups[edit]
Pakistan faced a low prevalence phase of epidemic from 1987 to 2003. This may have been due to lack of formal surveillance systems, although no study found significant HIV in any group until 2002. In 2003, an outbreak of HIV among injection drug users in one city heralded the onset of HIV epidemic in the country. Since then different studies and the national HIV surveillance (which started in 2004) have confirmed an escalating epidemic among IDUs and more recently among male and transgender sex workers. Currently the national average prevalence of HIV among IDUs is nearly 20%. Several cities also show concentrated epidemic among MSWs/ TSWs as well.[6] However, as mentioned that HIV is taken as stigma in a culture such as that of Pakistan. This along with the absence of routine surveillance and testing for HIV in the health system, ascertaining the actual number will remain a challenge.
Other groups that also have HIV among them are truck drivers, expatriated migrant workers and wives of IDUs. However, the incidence rate are not known for the reasons mentioned above. Two studies of men from the general population: Faisel and Cleland[7] and A Study of Bridging Populations (The Population Council/ NACP 2007[8]) show no HIV and few STIs in this group. Similarly a study of women attending labor and delivery clinics in 4 cities had shown no HIV and rare STIs (NACP 2001).[9] Furthermore, blood donor screening data all over the country are suggesting low HIV infection in the blood donor population, albeit with some increasing trends in selected centers.
A number of factors may have contributed to keeping the overall transmission of HIV within the general population. One, Pakistan is a predominantly Muslim country with near universal circumcision. Secondly, taboos on sex may have led to a higher proportion of the need for non-marital sex to be met via sex between men, much from a smaller group of men within each person's acquaintance. Some of this is suggested by the fact that about 45% of all sex acts sold are by either male or transgender sex workers (HIV/AIDS Surveillance Project 2007). These factors may have led to a high rate of HIV transmission among MSM/MSW networks but may (temporarily) slow down the transmission of HIV to the rest of the population.
The low prevalence rate overall may be taken as a window of opportunity, still available and actions to curb any further disease spread should be roboust. However, it is worth mentioning that data is reported mainly from the public sector health facilities. While, the current health seeking behaviours and health system forces majority of the population to the private sector.
The table above shows the sample distribution of high risk group done by the NACP.[10]
Province IDUs MSWs TSWs FSWs
Punjab 2,248 1,439 1,786 3,347
Sindh 2,213 1,440 1,337 1,472
KPK 325 436 718 712
Baluchistan 730 359 338 345
## Disease transmission by inappropriate use of therapeutic injections[edit]
A major factor that must be accounted for in the overall HIV transmission scenario is the rampant use of therapeutic injections, often with non-sterile injection equipment. There are an estimated 800 million therapeutic injections given annually in Pakistan or approximately 4.5 per capita. This is among the highest in the World. A small but significant proportion of these are reused. This has led to the prevalence of Hepatitis C infection (which is nearly exclusively transmitted via blood exposures) to become >5% nationwide, although this seems to have stabilized at a national level. Conservatively this suggests around 150,000 new HCV infections annually, leading to the conclusion that HIV can also potentially spread via this route as well. Indeed, recent community based outbreaks in Punjab suggest that the process may have already started.
## National response to HIV epidemic[edit]
Pakistan's response to HIV/AIDS began in 1987 with the establishment of a Federal Committee on AIDS by the Ministry of Health. The national AIDS control Program was then established. Its objectives are the prevention of HIV transmission among specific population sub-groups, safe blood transfusions, reduced STI transmission, establishment of surveillance, training of health staff, research and behavioral studies, and development of program management.
The prevention efforts received a major boost since 2004 when a World Bank loan/grant allowed the Ministry of Health (and the provincial Departments of Health) to start a program which seeks to provide HIV prevention services to IDUs, sex workers and truckers; perform advocacy and communication for the general public and covers significant proportion of the national blood supply for HIV, HBV and HCV screening. This "Enhanced HIV/AIDS Control Program" has been able to establish these services using NGOs to perform the interventions in most large cities although the quality of the services as well as the completeness of their "coverage" remains low. Overall the IDU programs in Punjab are performing the best with over 70% coverage of target populations with services in 4 cities. Programs for sex workers lag somewhat but are bolstered by the fact that the metropolises have higher levels of knowledge and safer behaviors. However, the overall levels of coverage of services remain low at around 16% for IDUs and <10% for sex workers nationwide. The communication project has performed probably the least with only 44% of Pakistani women reporting ever hearing of the word "AIDS" in 2007.[11] Finally HIV treatment was started in 2005. Currently over 900 individuals receive free HIV medicines and tests from 9 public and 3 private sector facilities. e.g. Elite Medical Welfare Association Pakistan.
## Future of HIV in Pakistan and response[edit]
Going forward the Government of Pakistan has approved a new ambitious 5-year plan that will be worth almost PKR 8 billion. However, a number of challenges will have to be met during this phase. The most immediate perhaps will be developing the methodology of measuring the impact of program interventions. A National M&E Framework has been developed but implementation on it has yet to start. To respond to this threat NACP in collaboration with Provincial programs and other partners developed its first national strategy framework in 2001 that culminated in establishment of first response called Enhanced HIV and AIDS Control Project that ended in 2008. This was followed by 2nd National strategic Framework that was more focussed to interventions in Key Populations. The country then developed the 3rd Strategic Framework 2015-20 that focussed on quality HIV treatment and care services.
Lack of the ability to measure the outcomes or impact of interventions in real time (so that this knowledge can inform program direction) was likely the most important factor in the low performance of the first Enhanced Program. Other challenges that must be overcome include establishment of a transparent financial management and a smooth logistical and procurement system. Much of the Enhanced Program services are contracted out and delays in procurement of these services meant that many of the cities went without services for months to years. More complex (and longer term) challenges will include determining how to integrate many of HIV activities within other health activities, improve planning to anticipate future direction of the epidemic and its response and to enhance efficiency and effectiveness of the interventions. For these research must become part of the interventions to guide their implementation using local context and to involve epidemiological tools such as routine analysis of available data and even mathematical modeling to guide program planning. After devolution in 2011 the Provinces mobilized their own resources that were mainly used to prevent the infection from establishing in Key Populations. The country also succeeded in getting three Global Fund grants and the present grant is more directed to strengthening HIV treatment care and support services to HIV positives and their families Message From NPM - National AIDS Control Programme. However, the available information suggests a slower case detection and confirmation and any response services for the infected population. This may be resulting from the fact that HIV is mainly confined to high risk population mentioned above. However, it can not be ruled out mainly due to the strong stigma attached, main surveys focused only in the urban areas and general population not having access to free laboratory test.
## References[edit]
1. ^ a b Amir Latif (October 6, 2006). "Pakistan sitting on a ticking AIDS bomb". Pakistan Tribune. Archived from the original on January 11, 2008. Retrieved June 14, 2008.
2. ^ "National AIDS Control Programme". www.nacp.gov.pk.
3. ^ "UNAIDS Epidemic update 2007" (PDF). Archived from the original (PDF) on October 2, 2008. Retrieved June 14, 2008.
4. ^ "Pakistan UNGASS Report 2007" (PDF). Archived from the original (PDF) on October 2, 2008. Retrieved June 14, 2008.
5. ^ "Message From NPM - National AIDS Control Programme". www.nacp.gov.pk.
6. ^ "HIV/AIDS Surveillance Project, National AIDS Control Program, Ministry of Health 2007" (PDF). Archived from the original (PDF) on October 2, 2008.
7. ^ Faisel, A.; Cleland, J. (August 1, 2006). "Migrant men: a priority for HIV control in Pakistan?". Sexually Transmitted Infections. 82 (4): 307–310. doi:10.1136/sti.2005.018762. PMC 2564715. PMID 16877580 – via sti.bmj.com.
8. ^ A Study of Bridging Populations (The Population Council/ NACP 2007 Archived 2008-11-11 at the Wayback Machine (PDF)
9. ^ "The STI Prevalence Study 2001" (PDF). Archived from the original (PDF) on October 2, 2008.
10. ^ "Surveillance - National AIDS Control Programme". www.nacp.gov.pk.
11. ^ Ahmad FA and Khan AA. Knowledge of HIV/AIDS and Other Sexually Transmitted Infections; Pakistan Demographic and Health Survey: Chapter 13. Page 155 (2006 - 2007) (PDF)
## External links[edit]
* The official site of the National AIDS Program of Pakistan (Visit the publications and reports pages for results of studies, surveillance and other resources available from the NACP)
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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
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HIV/AIDS in Pakistan
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https://en.wikipedia.org/wiki/HIV/AIDS_in_Pakistan
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{"wikidata": ["Q5629874"]}
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Gleich's syndrome
Other namesEpisodic angioedema with eosinophilia
Gleich's syndrome is a rare disease in which the body swells up episodically (angioedema), associated with raised antibodies of the IgM type and increased numbers of eosinophil granulocytes, a type of white blood cells, in the blood (eosinophilia). It was first described in 1984.[1]
Its cause is unknown, but it is unrelated to capillary leak syndrome (which may cause similar swelling episodes) and eosinophilia-myalgia syndrome (which features eosinophilia but alternative symptoms). Some studies have shown that edema attacks are associated with degranulation (release of enzymes and mediators from eosinophils), and others have demonstrated antibodies against endothelium (cells lining blood vessels) in the condition.[2]
Gleich's syndrome is not a form of the idiopathic hypereosinophilic syndrome in that there is little or no evidence that it leads to organ damage. Rather, recent studies report that a subset of T cells (a special form of lymphocyte blood cell) found in several Gleich syndrome patients have an abnormal immunophenotype, i.e. they express CD3-, CD4+ cluster of differentiation cell surface antigens. These same aberrant T cell immunophenotypes are found in lymphocyte-variant eosinophilia, a disease in which the aberrant T cells overproduce cytokines such as interleukin 5 which simulate the proliferation of eosinophil precursor cells and are thereby responsible for the eosinophilia. It is suggested that most forms of Gleich's syndrome are due to a similar aberrant T cell mechanism and are a subtype of lymphocyte-variant eosinophilia.[3]
Gleich syndrome has a good prognosis. Attack severity may improve with steroid treatment.[1][2]
## References[edit]
1. ^ a b Gleich GJ, Schroeter AL, Marcoux JP, Sachs MI, O'Connell EJ, Kohler PF (1984). "Episodic angioedema associated with eosinophilia". N. Engl. J. Med. 310 (25): 1621–6. doi:10.1056/NEJM198406213102501. PMID 6727934.
2. ^ a b Emonet S, Kaya G, Hauser C (2000). "Gleich's syndrome". Ann Dermatol Venereol. 127 (6–7): 616–8. PMID 10930860.
3. ^ Boyer DF (2016). "Blood and Bone Marrow Evaluation for Eosinophilia". Archives of Pathology & Laboratory Medicine. 140 (10): 1060–7. doi:10.5858/arpa.2016-0223-RA. PMID 27684977.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Gleich's syndrome
|
c1868715
| 25,443 |
wikipedia
|
https://en.wikipedia.org/wiki/Gleich%27s_syndrome
| 2021-01-18T18:41:33 |
{"gard": ["13029"], "umls": ["C1868715"], "wikidata": ["Q5567504"]}
|
Pterygium inversum unguis
Other namesPterygium inversus unguis,[1] and Ventral pterygium[2]:660
SpecialtyDermatology
Pterygium inversum unguis is characterized by the adherence of the distal portion of the nailbed to the ventral surface of the nail plate.[3]:788 The condition may be present at birth or acquired, and may cause pain with manipulation of small objects, typing, and close manicuring of the nail.[3]:788 secondary due to connective tissue disorders
## See also[edit]
* Pterygium unguis
* Nail Anatomy
* 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. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
3. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
This condition of the skin appendages 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
|
Pterygium inversum unguis
|
c0406439
| 25,444 |
wikipedia
|
https://en.wikipedia.org/wiki/Pterygium_inversum_unguis
| 2021-01-18T19:10:17 |
{"wikidata": ["Q7256989"]}
|
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin.
Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.
Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).
## Frequency
Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.
## Causes
Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta (β)-actin and gamma (γ)-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.
Mutations in the ACTB or ACTG1 gene alter the function of β-actin or γ-actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.
### Learn more about the genes associated with Baraitser-Winter syndrome
* ACTB
* ACTG1
## Inheritance Pattern
This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Baraitser-Winter syndrome
|
c1855722
| 25,445 |
medlineplus
|
https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome/
| 2021-01-27T08:25:49 |
{"gard": ["5279", "7300"], "mesh": ["C565462"], "omim": ["243310", "614583"], "synonyms": []}
|
Krill et al. (1973) defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa (180100), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. Krill et al. (1973) published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. Berson et al. (1968), Davis and Hollenhorst (1955), Sloan and Brown (1962), and others have reported families. Warburg (1989) reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, Warburg (1989) concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. Tranebjaerg et al. (1986) described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.
Went et al. (1992) described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.
In 10 patients with cone dystrophy, Holopigian et al. (2004) evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.
Kondo et al. (2004) described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal (609021).
Eyes \- Diffuse retinal cone degeneration \- Progressive visual acuity loss \- Photophobia \- Defective color vision \- Bull's eye macular lesion Lab \- Distinctive electroretinogram Inheritance \- Autosomal dominant (?6q25-q26) ▲ 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
|
RETINAL CONE DYSTROPHY 1
|
c0271092
| 25,446 |
omim
|
https://www.omim.org/entry/180020
| 2019-09-22T16:35:10 |
{"doid": ["0050795"], "omim": ["180020"], "orphanet": ["1871"], "synonyms": ["Alternative titles", "RETINAL CONE DEGENERATION", "CONE DYSTROPHY, AUTOSOMAL DOMINANT"]}
|
Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Human T-cell leukemia virus type 2
|
None
| 25,447 |
gard
|
https://rarediseases.info.nih.gov/diseases/9783/human-t-cell-leukemia-virus-type-2
| 2021-01-18T17:59:57 |
{"synonyms": ["HTLV-2", "Human T lymphotropic virus type 2"]}
|
Suprabasal epidermolysis bullosa simplex is a subtype of inherited epidermolysis bullosa simplex and comprises a group of clinically and genetically heterogeneous conditions, with phenotype ranging from mild to severe, principally characterized by infantile, localized or generalized, superficial skin erosions due to blistering within the middle or upper epidermal layers. Features of ectodermal dysplasia are frequently associated and depending on the specific disorder, variable extracutaneous involvement may be observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Suprabasal epidermolysis bullosa simplex
|
c4511300
| 25,448 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158661
| 2021-01-23T16:55:06 |
{"icd-10": ["Q81.0"]}
|
Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
## Epidemiology
Prevalence for congenital isolated hyperinsulinism (CHI, see this term) is estimated at 1/50,000 live births. GCK alterations are noted in 1.2% of patients with non-syndromic CHI.
## Clinical description
Clinical picture is similar to that described in CHI with mild manifestations leading to a delay in diagnosis until adulthood. A notable clinical feature is the remarkable stability of their hypoglycemia consistent with a resetting of the threshold for insulin release. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide necessitating near-total pancreatectomy. The potential development of type 2 diabetes with age is another notable feature Neurological sequelae due to rapidly falling glucose levels are rare.
## Etiology
Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified to cause HIGCK. Glucokinase has been described as the glucose sensor of pancreatic beta-cells. These mutations localize to an allosteric activator site and increase the protein's affinity to glucose and its efficacy in ATP-dependent phosphorylation of glucose, causing resetting of the threshold for insulin release at a value lower than normal. Recently, a somatic activating mutation in GCK has been proposed as a cause of a novel form of diazoxide-responsive focal CHI. Inactivating mutations GCK have been identified in cases of maturity onset diabetes of the young 2 (MODY 2, see this term).
## Genetic counseling
Most activating mutations of genes GCK identified to date are dominant. De novo mutations have also 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
|
Hyperinsulinism due to glucokinase deficiency
|
c1865290
| 25,449 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79299
| 2021-01-23T17:21:23 |
{"gard": ["2818"], "mesh": ["C538374"], "omim": ["602485"], "icd-10": ["E16.1"], "synonyms": ["Hyperinsulinemic hypoglycemia due to glucokinase deficiency"]}
|
Malignant pleural effusion
SpecialtyOncology
Malignant pleural effusion is a condition in which cancer causes an abnormal amount of fluid to collect between the thin layers of tissue (pleura) lining the outside of the lung and the wall of the chest cavity.[1] Lung cancer and breast cancer account for about 50-65% of malignant pleural effusions.[2][3] Other common causes include pleural mesothelioma and lymphoma.
## Contents
* 1 Diagnosis
* 1.1 Clinical evaluation
* 1.2 Imaging
* 1.3 Biochemical analysis
* 1.4 Histopathology
* 1.5 Biomarkers
* 2 Treatment
* 3 References
* 4 External links
## Diagnosis[edit]
### Clinical evaluation[edit]
Clinical factors predicting the diagnosis of malignant pleural effusions are symptoms lasting more than 1 month and the absence of fever.[4]
### Imaging[edit]
This is needed to confirm the presence of a pleural effusion. Chest radiograph is usually performed first and may demonstrate an underlying lung cancer as well as the pleural effusion. Ultrasound has a sensitivity of 73% and specificity of 100% at distinguishing malignant pleural effusions from other causes of pleural effusion, based on the presence of visible pleural metastases, pleural thickening greater than 1 cm, pleural nodularity, diaphragmatic thickening measuring greater than 7mm and an echogenic swirling pattern visible in the pleural fluid.[5][6]
### Biochemical analysis[edit]
Malignant pleural effusions are exudates. A low pleural fluid pH is associated with poorer survival and reduced pleurodesis efficacy.[7][8]
### Histopathology[edit]
Pleural fluid cytology is positive in 60% of cases. However, in the remaining cases, pleural biopsy is required. Image guided biopsy and thoracoscopy have largely replaced blind biopsy due to their greater sensitivity and safety profile. CT guided biopsy has a sensitivity of 87% compared to Abrams' needle biopsy, which has a sensitivity of 47%.[9]
### Biomarkers[edit]
Identification of pleural fluid biomarkers to distinguish malignant pleural effusions from other causes of exudative effusions would help diagnosis. Biomarkers that have been shown to be raised in malignant pleural effusions compared to benign disease include vascular endothelial growth factor (VEGF), endostatin, matrix metalloproteinases and tumour markers such as carcinoembryonic antigen.[10][11][12][13] Pleural fluid mesothelin has a sensitivity of 71%, greater than that of cytology, and a specificity of 89% for the diagnosis of malignant mesothelioma.[14]
## Treatment[edit]
The goal of treatment of malignant pleural effusions is relief of shortness of breath.[15] Occasionally, treatment of the underlying cancer can cause resolution of the effusion. This may be the case with types of cancer that respond well to chemotherapy, such as small cell carcinoma or lymphoma. Simple aspiration of pleural fluid can relieve shortness of breath rapidly but fluid and symptoms will usually recur within a couple of weeks. Drainage should generally be done under ultrasound guidance.[16]
For this reason, more permanent treatments are usually used to prevent fluid recurrence. Standard treatment involves inserting an indwelling plural catheter and pleurodesis.[16] However, this treatment requires an inpatient stay of approximately 2–7 days, can be painful and has a significant failure rate. This has led to the development of tunneled pleural catheters (e.g., Pleurx Catheters), which allow outpatient treatment of effusions. If an infection due to the catheter occurs, antibiotics are given and the catheter is generally left in.[16]
A Cochrane review concluded tentatively in favour of thoracoscopy to remove the fluid and blow talc into the pleural cavity (talc poudrage) compared to other commonly used methods. [17]
## References[edit]
1. ^ "NCI Dictionary of Cancer Terms". NCI. 2011-02-02. Retrieved 21 December 2018.
2. ^ Hausheer FH, Yarbro JW (March 1985). "Diagnosis and Management of Malignant Pleural Effusion". Seminars in Oncology. 12 (1): 54–75. PMID 2579439.
3. ^ Antony VB, Loddenkemper R, Astoul P, et al. (August 2001). "Management of malignant pleural effusions". Eur. Respir. J. 18 (2): 402–19. doi:10.1183/09031936.01.00225601. PMID 11529302.
4. ^ Ferrer J, Roldán J, Teixidor J, Pallisa E, Gich I, Morell F (March 2005). "Predictors of pleural malignancy in patients with pleural effusion undergoing thoracoscopy". Chest. 127 (3): 1017–22. doi:10.1378/chest.127.3.1017. PMID 15764788.
5. ^ Qureshi NR, Rahman NM, Gleeson FV (February 2009). "Thoracic ultrasound in the diagnosis of malignant pleural effusion". Thorax. 64 (2): 139–43. doi:10.1136/thx.2008.100545. PMID 18852159.
6. ^ Chian CF, Su WL, Soh LH, Yan HC, Perng WC, Wu CP (July 2004). "Echogenic swirling pattern as a predictor of malignant pleural effusions in patients with malignancies". Chest. 126 (1): 129–34. doi:10.1378/chest.126.1.129. PMID 15249453.
7. ^ Sahn SA, Good JT (March 1988). "Pleural fluid pH in malignant effusions. Diagnostic, prognostic, and therapeutic implications". Ann. Intern. Med. 108 (3): 345–9. doi:10.7326/0003-4819-108-3-345. PMID 3341671.
8. ^ Rodríguez-Panadero F, López Mejías J (March 1989). "Low glucose and pH levels in malignant pleural effusions. Diagnostic significance and prognostic value in respect to pleurodesis". Am. Rev. Respir. Dis. 139 (3): 663–7. doi:10.1164/ajrccm/139.3.663. PMID 2923367.
9. ^ Maskell NA, Gleeson FV, Davies RJ (April 2003). "Standard pleural biopsy versus CT-guided cutting-needle biopsy for diagnosis of malignant disease in pleural effusions: a randomised controlled trial". Lancet. 361 (9366): 1326–30. doi:10.1016/S0140-6736(03)13079-6. PMID 12711467.
10. ^ Sack U, Hoffmann M, Zhao XJ, et al. (April 2005). "Vascular endothelial growth factor in pleural effusions of different origin". Eur. Respir. J. 25 (4): 600–4. doi:10.1183/09031936.05.00037004. PMID 15802331.
11. ^ Sumi M, Kagohashi K, Satoh H, Ishikawa H, Funayama Y, Sekizawa K (2003). "Endostatin levels in exudative pleural effusions". Lung. 181 (6): 329–34. doi:10.1007/s00408-003-1035-9. PMID 14749937.
12. ^ Gaspar MJ, De Miguel J, García Díaz JD, Díez M (2008). "Clinical utility of a combination of tumour markers in the diagnosis of malignant pleural effusions". Anticancer Res. 28 (5B): 2947–52. PMID 19031938.
13. ^ Vatansever S, Gelisgen R, Uzun H, Yurt S, Kosar F (2009). "Potential role of matrix metalloproteinase-2,-9 and tissue inhibitors of metalloproteinase-1,-2 in exudative pleural effusions". Clin Invest Med. 32 (4): E293–300. doi:10.25011/cim.v32i4.6621. PMID 19640333.
14. ^ Davies HE, Sadler RS, Bielsa S, et al. (September 2009). "Clinical impact and reliability of pleural fluid mesothelin in undiagnosed pleural effusions". Am. J. Respir. Crit. Care Med. 180 (5): 437–44. doi:10.1164/rccm.200811-1729OC. PMID 19299498.
15. ^ Roberts ME, Neville E, Berrisford RG, Antunes G, Ali NJ (August 2010). "Management of a malignant pleural effusion: British Thoracic Society Pleural Disease Guideline 2010". Thorax. 65 Suppl 2 (Suppl 2): ii32–40. doi:10.1136/thx.2010.136994. PMID 20696691.
16. ^ a b c Feller-Kopman DJ, Reddy CB, DeCamp MM, Diekemper RL, Gould MK, Henry T, et al. (October 2018). "Management of Malignant Pleural Effusions. An Official ATS/STS/STR Clinical Practice Guideline". American Journal of Respiratory and Critical Care Medicine. 198 (7): 839–849. doi:10.1164/rccm.201807-1415ST. PMID 30272503.
17. ^ Dipper, Alexandra; Jones, Hayley E.; Bhatnagar, Rahul; Preston, Nancy J.; Maskell, Nick; Clive, Amelia O. (21 April 2020). "Interventions for the management of malignant pleural effusions: a network meta-analysis". The Cochrane Database of Systematic Reviews. 4: CD010529. doi:10.1002/14651858.CD010529.pub3. ISSN 1469-493X. PMC 7173736. PMID 32315458.
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
## External links[edit]
Classification
D
* ICD-10-CM: J91.0
* ICD-9-CM: 511.81
* MeSH: D016066
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Malignant pleural effusion
|
c0080032
| 25,450 |
wikipedia
|
https://en.wikipedia.org/wiki/Malignant_pleural_effusion
| 2021-01-18T19:09:38 |
{"mesh": ["D016066"], "icd-9": ["511.81"], "wikidata": ["Q6743514"]}
|
AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
AL amyloidosis
|
c0268381
| 25,451 |
gard
|
https://rarediseases.info.nih.gov/diseases/5797/al-amyloidosis
| 2021-01-18T18:02:13 |
{"mesh": ["D000075363"], "synonyms": ["Primary systemic amyloidosis", "Amyloidosis AL", "Light chain amyloidosis", "Systemic AL amyloidsis", "Primary AL amyloidosis", "Primary systemic AL amyloidosis", "Amyloidosis primary systemic", "Primary amyloidosis (Formerly)"]}
|
A number sign (#) is used with this entry because Crigler-Najjar syndrome type II is caused by homozygous or compound heterozygous mutation in the UDP-glucuronosyltransferase gene (UGT1A1; 191740) on chromosome 2q37.
Mutations in the same gene cause Gilbert syndrome (143500) and Crigler-Najjar syndrome type I (218800).
Description
The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).
Clinical Features
Type I and type II Crigler-Najjar syndrome are distinguished on the basis of the following clinical criteria: in type I, total serum bilirubin ranges from 20 to 45 mg/dL, whereas in type II, total serum bilirubin ranges from 6 to 20 mg/dL; in type II, phenobarbital treatment lowers serum bilirubin levels by more than 30%; and in type II, bilirubin glucuronides are present in bile. Type I patients do not respond to phenobarbital treatment and only traces of bilirubin glucuronides can be found in their bile. Analysis of liver tissue reveals residual activity of bilirubin-UGT activity in type II and absent activity in type I. There is considerable variability in type II, making it difficult to classify some cases. The enzyme produced from type I patients shows complete absence of activity and that in type II patients is reduced. Type II Crigler-Najjar syndrome is less severe than type I. Type I is associated with a reduced ability to glucuronidate bilirubin, with serum bilirubin levels ranging from 60 to 340 micromoles. Type I may be managed by phenobarbitone drug therapy, resulting in a reduction in serum bilirubin to 'safe' levels. Seppen et al. (1994) discriminated between types I and II by expressing mutant bilirubin-UGT in COS cells. Gilbert syndrome is distinguished by the lack of morbidity in patients and by a lower total serum bilirubin level, ranging from 1 to 6 mg/dL.
Inheritance
The inheritance pattern of Crigler-Najjar syndrome type II is generally considered to be autosomal recessive (Chowdhury et al., 2001). Hunter et al. (1973) described 3 families with apparently autosomal recessive inheritance, and Labrune et al. (1989) reported another. Consanguinity and the occurrence in brothers in the family reported by Gollan et al. (1975) supported recessive inheritance. Guldutuna et al. (1995) described Crigler-Najjar syndrome type II in a 34-year-old Turkish woman, the daughter of first-cousin parents. She and 3 of her 5 sibs (2 female, 1 male) had become jaundiced within the first days of life. The 4 jaundiced sibs had a total of 11 children, all unaffected. The mother, however, had the same disorder. The authors termed this pattern 'autosomal recessive with pseudodominance.' In the past, Powell et al. (1967) and Sleisenger et al. (1967), among others, reported autosomal dominant inheritance.
Molecular Genetics
Moghrabi et al. (1993) described a point mutation in the UGT1 gene complex (191740.0005) in a 72-year-old man with Crigler-Najjar syndrome type II who was the product of a consanguineous marriage of Irish descent. The patient was one of the brothers reported by Gollan et al. (1975). Yamamoto et al. (1998) analyzed the coding and promoter regions of the UGT1 gene in 7 Japanese patients with Crigler-Najjar syndrome type II from 5 unrelated families. Double homozygous missense mutations in exons 1 and 5 were found in 5 patients from 3 of the families studied. A single homozygous missense mutation in exon 1 was detected in 1 patient. The final patient was homozygous for an insertion mutation (191740.0011) and heterozygous for a pro229-to-gln mutation (P229Q; 191740.0010). Both of these variants had previously been found in patients with Gilbert syndrome. The authors speculated that the phenotype of Crigler-Najjar syndrome type II in this patient was caused by a combination of the heterozygous missense and homozygous insertion mutations.
Kadakol et al. (2001) described 2 sisters with Crigler-Najjar syndrome type II. They identified a missense mutation in the UGT1A1 gene (191740.0021) in homozygous state, but also found homozygosity for the UGT1 promoter region mutation (191740.0011).
Petit et al. (2006) identified 15 different mutations, including 4 novel mutations, in the UGT1A1 gene among 13 patients with Crigler-Najjar syndrome type II.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Jaundice LABORATORY ABNORMALITIES \- Hyperbilirubinemia, unconjugated, <20mg/dl \- Normal serum liver enzymes \- Decreased or absent UDP-glucuronyl-transferase activity MISCELLANEOUS \- Uncommon disorder \- Decreased bilirubin concentration with phenobarbital administration \- See also Crigler-Najjar syndrome type I ( 218800 ) which is also due to mutations in UGT1 ( 191740 ) MOLECULAR BASIS \- Caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1, 191740.0005 ) ▲ 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
|
CRIGLER-NAJJAR SYNDROME, TYPE II
|
c2931132
| 25,452 |
omim
|
https://www.omim.org/entry/606785
| 2019-09-22T16:10:01 |
{"mesh": ["C536213"], "omim": ["606785"], "orphanet": ["79235", "205"], "synonyms": ["Alternative titles", "HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II"]}
|
A number sign (#) is used with this entry because of evidence that spondyloepimetaphyseal dysplasia of the Faden-Alkuraya type (SEMDFA) is caused by homozygous mutation in the RSPRY1 gene (616585) on chromosome 16q13.
Clinical Features
Faden et al. (2015) studied a consanguineous Bedouin Saudi family in which 4 sibs had progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. The proband was a 13-year-old girl with a history of delayed motor milestones in infancy, who was walking at 5 years of age but progressively lost the ability to walk and was wheelchair-bound. She could follow simple commands but expressive language was severely limited. Examination revealed poor weight gain, severe short stature, microcephaly, dysmorphic facial features, small low-set ears, and short neck. Musculoskeletal examination showed generalized hypotonia with reduced muscle power, short hands, rocker-bottom feet with overriding toes, knocked knees, and mild scoliosis. Skeletal survey revealed generalized osteopenia, delayed bone age, copper-beaten appearance of the skull with premature closure of sutures, short metacarpals, platyspondyly, anterior wedging and posterior scalloping of lower thoracic vertebrae, and mild to moderate thoracolumbar scoliosis. In addition, she had narrow pelvis, bilateral coxa vara, short and slender long bones, small epiphyses, cupping and fraying of the metaphyses of the tibia and fibula, slipped capital femoral epiphyses, short femoral neck, and mild distal femoral bowing. The overriding toes were found to be secondary to marked shortening of the fourth metatarsal bilaterally. She had 2 affected older sisters and 1 affected younger brother, who all showed strikingly similar clinical and radiographic findings. The severity of the skeletal dysplasia appeared to correlate with age, as the findings in the 18-year-old sister were more severe than those of the 9-year-old brother. Brain CT in the proband showed asymmetry of the cerebral hemispheres, lateral ventricle, orbits, and skull, as well as evidence of premature closure of the right coronal suture. Faden et al. (2015) also studied a Peruvian boy with a similar phenotype, who was born of parents from a small isolated region and presented with significant speech delay; he was diagnosed with autism spectrum disorder at 5 years of age. At age 8 years, he exhibited short stature, dysmorphic facial features, low-set ears, short trunk with hyperlordosis, varus and valgus knee deformities, and overriding toes. Skeletal survey showed delayed epiphyseal maturation, flattening of femoral heads, thoracic platyspondyly, and short fourth metatarsals.
Mapping
Faden et al. (2015) performed autozygosity mapping in a consanguineous Bedouin Saudi family with a progressive form of spondyloepimetaphyseal dysplasia and identified 2 autozygous blocks shared only by affected family members, both on chromosome 16.
Molecular Genetics
In the proband of a consanguineous Bedouin Saudi family with a progressive form of spondyloepimetaphyseal dysplasia mapping to chromosome 16, Faden et al. (2015) performed whole-exome sequencing and identified homozygosity for a 1-bp duplication in the RSPRY1 gene (616585.0001). The mutation segregated fully with disease in the family and was not found in 650 Saudi control exomes or in the ExAC database. Using a gene-centric 'matchmaking' system, Faden et al. (2015) identified a Peruvian boy with a homozygous missense mutation in RSPRY1 (G41C; 616585.0002) who exhibited a similar phenotype.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly \- Flattened occiput Face \- Facial dysmorphism \- Malar hypoplasia Ears \- Low-set ears \- Small ears Eyes \- Hypertelorism \- Epicanthal folds \- Ptosis, mild \- Strabismus Nose \- Short nose \- Depressed nasal bridge Mouth \- Full lips \- Tented upper lip Neck \- Short neck SKELETAL \- Delayed bone age \- Generalized osteopenia Skull \- Microcephaly \- Craniosynostosis \- 'Copper-beaten' appearance of skull \- Premature closure of right coronal suture Spine \- Thoracolumbar scoliosis, mild \- Platyspondyly \- Anterior wedging of lower thoracic vertebrae \- Posterior scalloping of lower thoracic vertebrae Pelvis \- Coxa deformity \- Narrow pelvis Limbs \- Cupping of metaphyses of tibia and fibula \- Fraying of metaphyses of tibia and fibula \- Short femoral neck \- Genu deformity \- Short, slender long bones \- Small epiphyses \- Slipped capital femoral epiphyses \- Mild distal femoral bowing Hands \- Short metacarpals Feet \- Overriding toes \- Marked shortening of fourth metatarsals MUSCLE, SOFT TISSUES \- Reduced muscle strength (in some patients) NEUROLOGIC Central Nervous System \- Mental retardation \- Delayed motor development \- Generalized hypotonia (in some patients) \- Asymmetry of cerebral hemispheres \- Asymmetry of lateral ventricles \- Asymmetry of orbits \- Asymmetry of skull Behavioral Psychiatric Manifestations \- Autism spectrum disorder (rare) MISCELLANEOUS \- Progressive skeletal dysplasia MOLECULAR BASIS \- Caused by mutation in the ring finger- and SPRY domain-containing protein-1 gene (RSPRY1, 616585.0001 ) ▲ 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
|
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
|
c4225232
| 25,453 |
omim
|
https://www.omim.org/entry/616723
| 2019-09-22T15:48:06 |
{"omim": ["616723"], "orphanet": ["457395"], "synonyms": ["SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PROGRESSIVE, WITH SHORT STATURE, FACIAL DYSMORPHISM, SHORT FOURTH METATARSALS, AND MENTAL RETARDATION, WITH OR WITHOUT CRANIOSYNOSTOSIS", "Alternative titles"]}
|
Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features. Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism). Facial features include eyes that appear very close together (hypotelorism), cleft palate and cleft lip and a flat nose. The extra digits are usually located on the outside of the little fingers (post-axial polydactyly). Brain imaging may show a small anterior pituitary gland.
Culler-Jones syndrome is caused by changes (mutations) in the GLI2 gene. Inheritance is autosomal dominant. Treatment may include replacement of the hormones that are lacking due to the hypopituitarism, and surgery to correct the extra digits and the facial defects.
Mutations in the GLI2 gene can also cause a different condition known as holoprosencephaly-9 (HPE9) which is much more severe. That condition is characterized by a single-lobed brain structure and severe skull and facial defects.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Culler-Jones syndrome
|
c4014479
| 25,454 |
gard
|
https://rarediseases.info.nih.gov/diseases/13349/culler-jones-syndrome
| 2021-01-18T18:01:01 |
{"omim": ["615849"], "orphanet": ["420584"], "synonyms": ["Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "Culler-Jones syndrome"]}
|
A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pleomorphic xanthoastrocytoma
|
c0334586
| 25,455 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251607
| 2021-01-23T17:06:01 |
{"gard": ["10631"], "umls": ["C0334586"], "icd-10": ["C71.9"], "synonyms": ["PXA"]}
|
Skin disease
Psoriasis
Back and arms of a person with psoriasis
Pronunciation
* /səˈraɪəsɪs, ps-, sɒ-, sɔː-, soʊ-/[1][2]
(psora + -iasis)
SpecialtyDermatology
SymptomsRed (purple on darker skin), itchy, scaly patches of skin[3]
ComplicationsPsoriatic arthritis[4]
Usual onsetAdults[5]
DurationLong term[4]
CausesGenetic disease triggered by environmental factors[3]
Diagnostic methodBased on symptoms[4]
TreatmentSteroid creams, vitamin D3 cream, ultraviolet light, Immunosuppressive drugs such as methotrexate[5]
Frequency79.7 million[6] / 2–4%[7]
Psoriasis is a long-lasting, noncontagious[4] autoimmune disease characterized by raised areas of abnormal skin.[5] These areas are typically red, or purple on some people with darker skin,[8] dry, itchy, and scaly.[3] Psoriasis varies in severity from small, localized patches to complete body coverage.[3] Injury to the skin can trigger psoriatic skin changes at that spot, which is known as the Koebner phenomenon.[9]
The five main types of psoriasis are plaque, guttate, inverse, pustular, and erythrodermic.[5] Plaque psoriasis, also known as psoriasis vulgaris, makes up about 90% of cases.[4] It typically presents as red patches with white scales on top.[4] Areas of the body most commonly affected are the back of the forearms, shins, navel area, and scalp.[4] Guttate psoriasis has drop-shaped lesions.[5] Pustular psoriasis presents as small, noninfectious, pus-filled blisters.[10] Inverse psoriasis forms red patches in skin folds.[5] Erythrodermic psoriasis occurs when the rash becomes very widespread, and can develop from any of the other types.[4] Fingernails and toenails are affected in most people with psoriasis at some point in time.[4] This may include pits in the nails or changes in nail color.[4]
Psoriasis is generally thought to be a genetic disease that is triggered by environmental factors.[3] If one twin has psoriasis, the other twin is three times more likely to be affected if the twins are identical than if they are nonidentical.[4] This suggests that genetic factors predispose to psoriasis.[4] Symptoms often worsen during winter and with certain medications, such as beta blockers or NSAIDs.[4] Infections and psychological stress can also play a role.[3][5] The underlying mechanism involves the immune system reacting to skin cells.[4] Diagnosis is typically based on the signs and symptoms.[4]
No cure for psoriasis is known, but various treatments can help control the symptoms.[4] These treatments include steroid creams, vitamin D3 cream, ultraviolet light, and immunosuppressive drugs, such as methotrexate.[5] About 75% of skin involvement improves with creams alone.[4] The disease affects 2-4% of the population.[7] Men and women are affected with equal frequency.[5] The disease may begin at any age, but typically starts in adulthood.[5] Psoriasis is associated with an increased risk of psoriatic arthritis, lymphomas, cardiovascular disease, Crohn disease, and depression.[4] Psoriatic arthritis affects up to 30% of individuals with psoriasis.[10]
The word "psoriasis" is from Greek ψωρίασις, meaning "itching condition" or "being itchy"[11] from psora, "itch", and -iasis, "action, condition".
## Contents
* 1 Signs and symptoms
* 1.1 Plaque psoriasis
* 1.2 Other forms
* 1.2.1 Pustular psoriasis
* 1.2.2 Inverse psoriasis
* 1.2.3 Napkin psoriasis
* 1.2.4 Guttate psoriasis
* 1.2.5 Erythrodermic psoriasis
* 1.2.6 Mouth
* 1.2.7 Seborrheic-like psoriasis
* 1.3 Psoriatic arthritis
* 1.4 Nail changes
* 1.5 Medical signs
* 2 Causes
* 2.1 Genetics
* 2.2 Lifestyle
* 2.3 HIV
* 2.4 Microbes
* 2.5 Medications
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classification
* 4.1.1 Morphological
* 4.1.2 Pathogenetic
* 4.1.3 Severity
* 5 Management
* 5.1 Topical agents
* 5.2 UV phototherapy
* 5.3 Systemic agents
* 5.4 Surgery
* 5.5 Diet
* 6 Prognosis
* 6.1 Cardiovascular disease
* 6.2 Other diseases
* 7 Epidemiology
* 8 History
* 9 Society and culture
* 9.1 Cost
* 10 Research
* 11 References
* 12 Further reading
* 13 External links
## Signs and symptoms[edit]
### Plaque psoriasis[edit]
Psoriatic plaque, showing a silvery center surrounded by a reddened border
Psoriasis vulgaris (also known as chronic stationary psoriasis or plaque-like psoriasis) is the most common form and affects 85–90% of people with psoriasis.[12] Plaque psoriasis typically appears as raised areas of inflamed skin covered with silvery-white, scaly skin. These areas are called plaques and are most commonly found on the elbows, knees, scalp, and back.[12][13]
* Plaques of psoriasis
* A person's arm covered with plaque psoriasis
* Psoriasis of the palms
### Other forms[edit]
Additional types of psoriasis comprise about 10% of cases. They include pustular, inverse, napkin, guttate, oral, and seborrheic-like forms.[14]
#### Pustular psoriasis[edit]
Severe Generalized pustular psoriasis
Pustular psoriasis appears as raised bumps filled with noninfectious pus (pustules).[15] The skin under and surrounding the pustules is red and tender.[16] Pustular psoriasis can either be localized or more widespread throughout the body. Two types of localized pustular psoriasis include psoriasis pustulosa palmoplantaris and acrodermatitis continua of Hallopeau; both forms are localized to the hands and feet.[17]
#### Inverse psoriasis[edit]
Inverse psoriasis (also known as flexural psoriasis) appears as smooth, inflamed patches of skin. The patches frequently affect skin folds, particularly around the genitals (between the thigh and groin), the armpits, in the skin folds of an overweight abdomen (known as panniculus), between the buttocks in the intergluteal cleft, and under the breasts in the inframammary fold. Heat, trauma, and infection are thought to play a role in the development of this atypical form of psoriasis.[18]
#### Napkin psoriasis[edit]
Napkin psoriasis is a subtype of psoriasis common in infants characterized by red papules with silver scale in the diaper area that may extend to the torso or limbs.[19] Napkin psoriasis is often misdiagnosed as napkin dermatitis (diaper rash).[20]
#### Guttate psoriasis[edit]
Example of guttate psoriasis
Guttate psoriasis is characterized by numerous small, scaly, red or pink, droplet-like lesions (papules). These numerous spots of psoriasis appear over large areas of the body, primarily the trunk, but also the limbs and scalp. Guttate psoriasis is often triggered by a streptococcal infection, typically streptococcal pharyngitis.[18]
#### Erythrodermic psoriasis[edit]
Psoriatic erythroderma (erythrodermic psoriasis) involves widespread inflammation and exfoliation of the skin over most of the body surface, often involving greater than 90% of the body surface area.[17] It may be accompanied by severe dryness, itching, swelling, and pain. It can develop from any type of psoriasis.[17] It is often the result of an exacerbation of unstable plaque psoriasis, particularly following the abrupt withdrawal of systemic glucocorticoids.[21] This form of psoriasis can be fatal as the extreme inflammation and exfoliation disrupt the body's ability to regulate temperature and perform barrier functions.[22]
#### Mouth[edit]
Psoriasis in the mouth is very rare,[23] in contrast to lichen planus, another common papulosquamous disorder that commonly involves both the skin and mouth. When psoriasis involves the oral mucosa (the lining of the mouth), it may be asymptomatic,[23] but it may appear as white or grey-yellow plaques.[23] Fissured tongue is the most common finding in those with oral psoriasis and has been reported to occur in 6.5–20% of people with psoriasis affecting the skin. The microscopic appearance of oral mucosa affected by geographic tongue (migratory stomatitis) is very similar to the appearance of psoriasis.[24] However, modern studies have failed to demonstrate any link between the two conditions.[25]
#### Seborrheic-like psoriasis[edit]
Seborrheic-like psoriasis is a common form of psoriasis with clinical aspects of psoriasis and seborrheic dermatitis, and it may be difficult to distinguish from the latter. This form of psoriasis typically manifests as red plaques with greasy scales in areas of higher sebum production such as the scalp, forehead, skin folds next to the nose, skin surrounding the mouth, skin on the chest above the sternum, and in skin folds.[19]
### Psoriatic arthritis[edit]
Psoriatic arthritis is a form of chronic inflammatory arthritis that has a highly variable clinical presentation and frequently occurs in association with skin and nail psoriasis.[26][27] It typically involves painful inflammation of the joints and surrounding connective tissue, and can occur in any joint, but most commonly affects the joints of the fingers and toes. This can result in a sausage-shaped swelling of the fingers and toes known as dactylitis.[26] Psoriatic arthritis can also affect the hips, knees, spine (spondylitis), and sacroiliac joint (sacroiliitis).[28] About 30% of individuals with psoriasis will develop psoriatic arthritis.[12] Skin manifestations of psoriasis tend to occur before arthritic manifestations in about 75% of cases.[27]
### Nail changes[edit]
Psoriasis of a fingernail, with visible pitting
A photograph showing the effects of psoriasis on the toenails
Psoriasis can affect the nails and produces a variety of changes in the appearance of finger and toe nails. Nail psoriasis occurs in 40–45% of people with psoriasis affecting the skin, and has a lifetime incidence of 80–90% in those with psoriatic arthritis.[29] These changes include pitting of the nails (pinhead-sized depressions in the nail is seen in 70% with nail psoriasis), whitening of the nail, small areas of bleeding from capillaries under the nail, yellow-reddish discoloration of the nails known as the oil drop or salmon spot, dryness, thickening of the skin under the nail (subungual hyperkeratosis), loosening and separation of the nail (onycholysis), and crumbling of the nail.[29]
### Medical signs[edit]
In addition to the appearance and distribution of the rash, specific medical signs may be used by medical practitioners to assist with diagnosis. These may include Auspitz's sign (pinpoint bleeding when scale is removed), Koebner phenomenon (psoriatic skin lesions induced by trauma to the skin),[19] and itching and pain localized to papules and plaques.[18][19]
## Causes[edit]
The cause of psoriasis is not fully understood, but a number of theories exist.
### Genetics[edit]
See also: List of human leukocyte antigen alleles associated with cutaneous conditions
Around one-third of people with psoriasis report a family history of the disease, and researchers have identified genetic loci associated with the condition. Identical twin studies suggest a 70% chance of a twin developing psoriasis if the other twin has the disorder. The risk is around 20% for nonidentical twins. These findings suggest both a genetic susceptibility and an environmental response in developing psoriasis.[30]
Psoriasis has a strong hereditary component, and many genes are associated with it, but how those genes work together is unclear. Most of the identified genes relate to the immune system, particularly the major histocompatibility complex (MHC) and T cells. Genetic studies are valuable due to their ability to identify molecular mechanisms and pathways for further study and potential medication targets.[31]
Classic genome-wide linkage analysis has identified nine loci on different chromosomes associated with psoriasis. They are called psoriasis susceptibility 1 through 9 (PSORS1 through PSORS9). Within those loci are genes on pathways that lead to inflammation. Certain variations (mutations) of those genes are commonly found in psoriasis.[31] Genome-wide association scans have identified other genes that are altered to characteristic variants in psoriasis. Some of these genes express inflammatory signal proteins, which affect cells in the immune system that are also involved in psoriasis. Some of these genes are also involved in other autoimmune diseases.[31]
The major determinant is PSORS1, which probably accounts for 35–50% of psoriasis heritability.[32] It controls genes that affect the immune system or encode skin proteins that are overabundant with psoriasis. PSORS1 is located on chromosome 6 in the MHC, which controls important immune functions. Three genes in the PSORS1 locus have a strong association with psoriasis vulgaris: HLA-C variant HLA-Cw6,[33] which encodes an MHC class I protein; CCHCR1, variant WWC, which encodes a coiled coil protein overexpressed in psoriatic epidermis; and CDSN, variant allele 5, which encodes corneodesmosin, a protein expressed in the granular and cornified layers of the epidermis and upregulated in psoriasis.[31]
Two major immune system genes under investigation are interleukin-12 subunit beta (IL12B) on chromosome 5q, which expresses interleukin-12B; and IL23R on chromosome 1p, which expresses the interleukin-23 receptor, and is involved in T cell differentiation. Interleukin-23 receptor and IL12B have both been strongly linked with psoriasis.[33] T cells are involved in the inflammatory process that leads to psoriasis.[31] These genes are on the pathway that upregulate tumor necrosis factor-α and nuclear factor κB, two genes involved in inflammation.[31] The first gene directly linked to psoriasis was identified as the CARD14 gene located in the PSORS2 locus. A rare mutation in the gene encoding for the CARD14-regulated protein plus an environmental trigger was enough to cause plaque psoriasis (the most common form of psoriasis).[34][35]
### Lifestyle[edit]
Conditions reported as worsening the disease include chronic infections, stress, and changes in season and climate.[33] Others factors that might worsen the condition include hot water, scratching psoriasis skin lesions, skin dryness, excessive alcohol consumption, cigarette smoking, and obesity.[33][36][37][38] The effects of stopping cigarette smoking or alcohol misuse have yet to be studied as of 2019.[38]
### HIV[edit]
The rate of psoriasis in human immunodeficiency virus-positive (HIV) individuals is comparable to that of HIV-negative individuals, but psoriasis tends to be more severe in people infected with HIV.[39] A much higher rate of psoriatic arthritis occurs in HIV-positive individuals with psoriasis than in those without the infection.[39] The immune response in those infected with HIV is typically characterized by cellular signals from Th2 subset of CD4+ helper T cells,[40] whereas the immune response in psoriasis vulgaris is characterized by a pattern of cellular signals typical of Th1 subset of CD4+ helper T cells and Th17 helper T cells.[41][42] The diminished CD4+-T cell presence is thought to cause an overactivation of CD8+-T cells, which are responsible for the exacerbation of psoriasis in HIV-positive people. Psoriasis in those with HIV/AIDS is often severe and may be untreatable with conventional therapy.[43] In those with long-term, well-controlled psoriasis, new HIV infection can trigger a severe flare-up of psoriasis and/or psoriatic arthritis.[medical citation needed]
### Microbes[edit]
Psoriasis has been described as occurring after strep throat, and may be worsened by skin or gut colonization with Staphylococcus aureus, Malassezia spp., and Candida albicans.[44] Guttate psoriasis often affects children and adolescents and can be triggered by a recent group A streptococcal infection (tonsillitis or pharyngitis).[17]
### Medications[edit]
Drug-induced psoriasis may occur with beta blockers,[10] lithium,[10] antimalarial medications,[10] nonsteroidal anti-inflammatory drugs,[10] terbinafine, calcium channel blockers, captopril, glyburide, granulocyte colony-stimulating factor,[10] interleukins, interferons,[10] lipid-lowering medications,[14]:197 and paradoxically TNF inhibitors such as infliximab or adalimumab.[45] Withdrawal of corticosteroids (topical steroid cream) can aggravate psoriasis due to the rebound effect.[46]
## Mechanism[edit]
Psoriasis is characterized by an abnormally excessive and rapid growth of the epidermal layer of the skin.[47] Abnormal production of skin cells (especially during wound repair) and an overabundance of skin cells result from the sequence of pathological events in psoriasis.[16] The sequence of pathological events in psoriasis is thought to start with an initiation phase in which an event (skin trauma, infection, or drugs) leads to activation of the immune system and then the maintenance phase consisting of chronic progression of the disease.[31][17] Skin cells are replaced every 3–5 days in psoriasis rather than the usual 28–30 days.[48] These changes are believed to stem from the premature maturation of keratinocytes induced by an inflammatory cascade in the dermis involving dendritic cells, macrophages, and T cells (three subtypes of white blood cells).[12][39] These immune cells move from the dermis to the epidermis and secrete inflammatory chemical signals (cytokines) such as interleukin-36γ, tumor necrosis factor-α, interleukin-1β, interleukin-6, and interleukin-22.[31][49] These secreted inflammatory signals are believed to stimulate keratinocytes to proliferate.[31] One hypothesis is that psoriasis involves a defect in regulatory T cells, and in the regulatory cytokine interleukin-10.[31] The inflammatory cytokines found in psoriatic nails and joints (in the case of psoriatic arthritis) are similar to those of psoriatic skin lesions, suggesting a common inflammatory mechanism.[17]
Gene mutations of proteins involved in the skin's ability to function as a barrier have been identified as markers of susceptibility for the development of psoriasis.[50][51]
Deoxyribonucleic acid (DNA) released from dying cells acts as an inflammatory stimulus in psoriasis[52] and stimulates the receptors on certain dendritic cells, which in turn produce the cytokine interferon-α.[52] In response to these chemical messages from dendritic cells and T cells, keratinocytes also secrete cytokines such as interleukin-1, interleukin-6, and tumor necrosis factor-α, which signal downstream inflammatory cells to arrive and stimulate additional inflammation.[31]
Dendritic cells bridge the innate immune system and adaptive immune system. They are increased in psoriatic lesions[47] and induce the proliferation of T cells and type 1 helper T cells (Th1). Targeted immunotherapy, as well as psoralen and ultraviolet A (PUVA) therapy, can reduce the number of dendritic cells and favors a Th2 cell cytokine secretion pattern over a Th1/Th17 cell cytokine profile.[31][41] Psoriatic T cells move from the dermis into the epidermis and secrete interferon-γ and interleukin-17.[53] Interleukin-23 is known to induce the production of interleukin-17 and interleukin-22.[47][53] Interleukin-22 works in combination with interleukin-17 to induce keratinocytes to secrete neutrophil-attracting cytokines.[53]
## Diagnosis[edit]
Micrograph of psoriasis vulgaris. Confluent parakeratosis, psoriasiform epidermal hyperplasia [(A), EH], hypogranulosis, and influx of numerous neutrophils in the corneal layer [(A), arrow]. (B) Transepidermal migration of neutrophils from the dermis to the corneal layer (arrows).[54]
A diagnosis of psoriasis is usually based on the appearance of the skin. Skin characteristics typical for psoriasis are scaly, erythematous plaques, papules, or patches of skin that may be painful and itch.[18] No special blood tests or diagnostic procedures are usually required to make the diagnosis.[16][55]
The differential diagnosis of psoriasis includes dermatological conditions similar in appearance such as discoid eczema, seborrheic eczema, pityriasis rosea (may be confused with guttate psoriasis), nail fungus (may be confused with nail psoriasis) or cutaneous T cell lymphoma (50% of individuals with this cancer are initially misdiagnosed with psoriasis).[46] Dermatologic manifestations of systemic illnesses such as the rash of secondary syphilis may also be confused with psoriasis.[46]
If the clinical diagnosis is uncertain, a skin biopsy or scraping may be performed to rule out other disorders and to confirm the diagnosis. Skin from a biopsy shows clubbed epidermal projections that interdigitate with dermis on microscopy. Epidermal thickening is another characteristic histologic finding of psoriasis lesions.[16][56] The stratum granulosum layer of the epidermis is often missing or significantly decreased in psoriatic lesions; the skin cells from the most superficial layer of skin are also abnormal as they never fully mature. Unlike their mature counterparts, these superficial cells keep their nuclei.[16] Inflammatory infiltrates can typically be seen on microscopy when examining skin tissue or joint tissue affected by psoriasis. Epidermal skin tissue affected by psoriatic inflammation often has many CD8+ T cells, while a predominance of CD4+ T cells makes up the inflammatory infiltrates of the dermal layer of skin and the joints.[16]
### Classification[edit]
#### Morphological[edit]
Psoriasis Type ICD-10 Code
Psoriasis vulgaris L40.0
Generalized pustular psoriasis L40.1
Acrodermatitis continua L40.2
Pustulosis palmaris et plantaris L40.3
Guttate psoriasis L40.4
Psoriatic arthritis L40.50
Psoriatic spondylitis L40.53
Inverse psoriasis L40.8
Psoriasis is classified as a papulosquamous disorder and is most commonly subdivided into different categories based on histological characteristics.[3][10] Variants include plaque, pustular, guttate, and flexural psoriasis. Each form has a dedicated ICD-10 code.[57] Psoriasis can also be classified into nonpustular and pustular types.[58]
#### Pathogenetic[edit]
Another classification scheme considers genetic and demographic factors. Type 1 has a positive family history, starts before the age of 40, and is associated with the human leukocyte antigen, HLA-Cw6. Conversely, type 2 does not show a family history, presents after age 40, and is not associated with HLA-Cw6.[59] Type 1 accounts for about 75% of persons with psoriasis.[60]
The classification of psoriasis as an autoimmune disease has sparked considerable debate. Researchers have proposed differing descriptions of psoriasis and psoriatic arthritis; some authors have classified them as autoimmune diseases[16][33][61] while others have classified them as distinct from autoimmune diseases and referred to them as immune-mediated inflammatory diseases.[31][62][63]
#### Severity[edit]
Distribution of severity
No consensus exists about how to classify the severity of psoriasis. Mild psoriasis has been defined as a percentage of body surface area (BSA)≤10, a psoriasis area severity index (PASI) score ≤10, and a Dermatology Life Quality Index (DLQI) score ≤10.[64] Moderate to severe psoriasis was defined by the same group as BSA >10 or PASI score >10 and a DLQI score >10.[64]
The DLQI is a 10-question tool used to measure the impact of several dermatologic diseases on daily functioning. The DLQI score ranges from 0 (minimal impairment) to 30 (maximal impairment) and is calculated with each answer being assigned 0–3 points with higher scores indicating greater social or occupational impairment.[65]
The PASI is the most widely used measurement tool for psoriasis. It assesses the severity of lesions and the area affected and combines these two factors into a single score from 0 (no disease) to 72 (maximal disease).[66] Nevertheless, the PASI can be too unwieldy to use outside of research settings, which has led to attempts to simplify the index for clinical use.[67]
## Management[edit]
Schematic of psoriasis treatment ladder
While no cure is available for psoriasis,[46] many treatment options exist. Topical agents are typically used for mild disease, phototherapy for moderate disease, and systemic agents for severe disease.[68] Topical or systemic drugs, biotherapy, and phototherapy have no effects in guttate psoriasis. Lipid emulsion administration has limited effect on guttate psoriasis.[69]
### Topical agents[edit]
Topical corticosteroid preparations are the most effective agents when used continuously for 8 weeks; retinoids and coal tar were found to be of limited benefit and may be no better than placebo.[70] Greater benefit has been observed with very potent corticosteroids when compared to potent corticosteroids.
Vitamin D analogues such as paricalcitol were found to be superior to placebo. Combination therapy with vitamin D and a corticosteroid was superior to either treatment alone and vitamin D was found to be superior to coal tar for chronic plaque psoriasis.[71]
For psoriasis of the scalp, a 2016 review found dual therapy (vitamin D analogues and topical corticosteroids) or corticosteroid monotherapy to be more effective and safer than topical vitamin D analogues alone.[72] Due to their similar safety profiles and minimal benefit of dual therapy over monotherapy, corticosteroid monotherapy appears to be an acceptable treatment for short-term treatment.[72]
Moisturizers and emollients such as mineral oil, petroleum jelly, calcipotriol, and decubal (an oil-in-water emollient) were found to increase the clearance of psoriatic plaques. Some emollients have been shown to be even more effective at clearing psoriatic plaques when combined with phototherapy.[73] Certain emollients, though, have no impact on psoriasis plaque clearance or may even decrease the clearance achieved with phototherapy, e.g. the emollient salicylic acid is structurally similar to para-aminobenzoic acid, commonly found in sunscreen, and is known to interfere with phototherapy in psoriasis. Coconut oil, when used as an emollient in psoriasis, has been found to decrease plaque clearance with phototherapy.[73] Medicated creams and ointments applied directly to psoriatic plaques can help reduce inflammation, remove built-up scale, reduce skin turnover, and clear affected skin of plaques. Ointment and creams containing coal tar, dithranol, corticosteroids (i.e. desoximetasone), fluocinonide, vitamin D3 analogues (for example, calcipotriol), and retinoids are routinely used. (The use of the finger tip unit may be helpful in guiding how much topical treatment to use.)[36][74]
Vitamin D analogues may be useful with steroids; however, alone have a higher rate of side effects.[71] They may allow less steroids to be used.[75]
Another topical therapy used to treat psoriasis is a form of balneotherapy, which involves daily baths in the Dead Sea. This is usually done for four weeks with the benefit attributed to sun exposure and specifically UVB light. This is cost-effective and it has been propagated as an effective way to treat psoriasis without medication.[76] Decreases of PASI scores greater than 75% and remission for several months have commonly been observed.[76] Side effects may be mild such as itchiness, folliculitis, sunburn, poikiloderma, and a theoretical risk of nonmelanoma cancer or melanoma has been suggested.[76] Some studies indicate no increased risk of melanoma in the long term.[77] Data are inconclusive with respect to nonmelanoma skin cancer risk, but support the idea that the therapy is associated with an increased risk of benign forms of sun-induced skin damage such as, but not limited to, actinic elastosis or liver spots.[77] Dead Sea balneotherapy is also effective for psoriatic arthritis.[77] Tentative evidence indicates that balneophototherapy, a combination of salt bathes and exposure to ultraviolet B-light (UVB), in chronic plaque psoriasis is better than UVB alone.[78]
### UV phototherapy[edit]
Phototherapy in the form of sunlight has long been used for psoriasis.[68] UVB wavelengths of 311–313 nanometers are most effective, and special lamps have been developed for this application.[68] The exposure time should be controlled to avoid overexposure and burning of the skin. The UVB lamps should have a timer that turns off the lamp when the time ends. The amount of light used is determined by a person's skin type.[68] Increased rates of cancer from treatment appear to be small.[68] Narrowband UVB therapy has been demonstrated to have similar efficacy to psoralen and ultraviolet A phototherapy (PUVA).[79] A 2013 meta-analysis found no difference in efficacy between NB-UVB and PUVA in the treatment of psoriasis, but NB-UVB is usually more convenient.[80]
One of the problems with clinical phototherapy is the difficulty many people have gaining access to a facility. Indoor tanning resources are almost ubiquitous today and could be considered as a means for people to get UV exposure when dermatologist-provided phototherapy is not available. Indoor tanning is already used by many people as a treatment for psoriasis; one indoor facility reported that 50% of its clients were using the center for psoriasis treatment; another reported 36% were doing the same thing. However, a concern with the use of commercial tanning is that tanning beds that primarily emit UVA might not effectively treat psoriasis. One study found that plaque psoriasis is responsive to erythemogenic doses of either UVA or UVB, as exposure to either can cause dissipation of psoriatic plaques. It does require more energy to reach erythemogenic dosing with UVA.[81]
UV light therapies all have risks; tanning beds are no exception, being listed by the World Health Organization as carcinogens.[82] Exposure to UV light is known to increase the risks of melanoma and squamous cell and basal cell carcinomas; younger people with psoriasis, particularly those under age 35, are at increased risk from melanoma from UV light treatment. A review of studies recommends that people who are susceptible to skin cancers exercise caution when using UV light therapy as a treatment.[81]
A major mechanism of NBUVB is the induction of DNA damage in the form of pyrimidine dimers. This type of phototherapy is useful in the treatment of psoriasis because the formation of these dimers interferes with the cell cycle and stops it. The interruption of the cell cycle induced by NBUVB opposes the characteristic rapid division of skin cells seen in psoriasis.[79] The activity of many types of immune cells found in the skin is also effectively suppressed by NBUVB phototherapy treatments. The most common short-term side effect of this form of phototherapy is redness of the skin; less common side effects of NBUVB phototherapy are itching and blistering of the treated skin, irritation of the eyes in the form of conjunctival inflammation or inflammation of the cornea, or cold sores due to reactivation of the herpes simplex virus in the skin surrounding the lips. Eye protection is usually given during phototherapy treatments.[79]
PUVA combines the oral or topical administration of psoralen with exposure to ultraviolet A (UVA) light. The mechanism of action of PUVA is unknown, but probably involves activation of psoralen by UVA light, which inhibits the abnormally rapid production of the cells in psoriatic skin. There are multiple mechanisms of action associated with PUVA, including effects on the skin's immune system. PUVA is associated with nausea, headache, fatigue, burning, and itching. Long-term treatment is associated with squamous cell carcinoma (but not with melanoma).[37][83] A combination therapy for moderate to severe psoriasis using PUVA plus acitretin resulted in benefit, but acitretin use has been associated with birth defects and liver damage.[84]
### Systemic agents[edit]
Pictures of a person with psoriasis (and psoriatic arthritis) at baseline and 8 weeks after initiation of infliximab therapy.
Psoriasis resistant to topical treatment and phototherapy may be treated with systemic therapies including medications by mouth or injectable treatments.[85] People undergoing systemic treatment must have regular blood and liver function tests to check for medication toxicities.[85] Pregnancy must be avoided for most of these treatments. The majority of people experience a recurrence of psoriasis after systemic treatment is discontinued.
Non-biologic systemic treatments frequently used for psoriasis include methotrexate, ciclosporin, hydroxycarbamide, fumarates such as dimethyl fumarate, and retinoids.[86] Methotrexate and ciclosporin are medications that suppress the immune system; retinoids are synthetic forms of vitamin A. These agents are also regarded as first-line treatments for psoriatic erythroderma.[21] Oral corticosteroids should not be used, for they can severely flare psoriasis upon their discontinuation.[87]
Biologics are manufactured proteins that interrupt the immune process involved in psoriasis. Unlike generalized immunosuppressive medical therapies such as methotrexate, biologics target specific aspects of the immune system contributing to psoriasis.[86] These medications are generally well tolerated, and limited long-term outcome data have demonstrated biologics to be safe for long-term use in moderate to severe plaque psoriasis.[86][88] However, due to their immunosuppressive actions, biologics have been associated with a small increase in the risk for infection.[86]
Guidelines regard biologics as third-line treatment for plaque psoriasis following inadequate response to topical treatment, phototherapy, and non-biologic systemic treatments.[88] The safety of biologics during pregnancy has not been assessed. European guidelines recommend avoiding biologics if a pregnancy is planned; anti-TNF therapies such as infliximab are not recommended for use in chronic carriers of the hepatitis B virus or individuals infected with HIV.[86]
Several monoclonal antibodies target cytokines, the molecules that cells use to send inflammatory signals to each other. TNF-α is one of the main executor inflammatory cytokines. Four monoclonal antibodies (MAbs) (infliximab, adalimumab, golimumab, and certolizumab pegol) and one recombinant TNF-α decoy receptor, etanercept, have been developed to inhibit TNF-α signaling. Additional monoclonal antibodies, such as ixekizumab,[89] have been developed against pro-inflammatory cytokines[90] and inhibit the inflammatory pathway at a different point than the anti-TNF-α antibodies.[31] IL-12 and IL-23 share a common domain, p40, which is the target of the FDA-approved ustekinumab.[33] In 2017 the US FDA approved guselkumab for plaque psoriasis.[91] There have been few studies of the efficacy of anti-TNF medications for psoriasis in children. One randomized control study suggested that 12 weeks of etanercept treatment reduced the extent of psoriasis in children with no lasting adverse effects.[92]
Two medications that target T cells are efalizumab and alefacept. Efalizumab is a monoclonal antibody that specifically targets the CD11a subunit of LFA-1.[86] It also blocks the adhesion molecules on the endothelial cells that line blood vessels, which attract T cells. Efalizumab was voluntarily withdrawn from the European market in February 2009, and from the U.S. market in June 2009, by the manufacturer due to the medication's association with cases of progressive multifocal leukoencephalopathy.[86] Alefacept also blocks the molecules that dendritic cells use to communicate with T cells and even causes natural killer cells to kill T cells as a way of controlling inflammation.[31] Apremilast may also be used.[12]
Individuals with psoriasis may develop neutralizing antibodies against monoclonal antibodies. Neutralization occurs when an antidrug antibody prevents a monoclonal antibody such as infliximab from binding antigen in a laboratory test. Specifically, neutralization occurs when the antidrug antibody binds to infliximab's antigen binding site instead of TNF-α. When infliximab no longer binds tumor necrosis factor alpha, it no longer decreases inflammation, and psoriasis may worsen. Neutralizing antibodies have not been reported against etanercept, a biologic medication that is a fusion protein composed of two TNF-α receptors. The lack of neutralizing antibodies against etanercept is probably secondary to the innate presence of the TNF-α receptor, and the development of immune tolerance.[93]
A 2020 meta-analysis found that ixekizumab, secukinumab, brodalumab, guselkumab, certolizumab, and ustekinumab were the most effective biologics for treating psoriasis.[94][95] In general, anti-IL17, anti-IL12/23, anti-IL23, and anti-TNF alpha biologics were found to be more effective than traditional systemic treatments.[94] The immunologic pathways of psoriasis involve Th9, Th17, Th1 lymphocytes, and IL-22. The aforementioned biologic agents hinder different aspects of these pathways.[citation needed]
Another treatment for moderate to severe psoriasis is fumaric acid esters (FAE) which may be similar in effectiveness to methotrexate.[96]
It has been theorized that antistreptococcal medications may improve guttate and chronic plaque psoriasis; however the limited studies do not show that antibiotics are effective.[97]
### Surgery[edit]
Limited evidence suggests removal of the tonsils may benefit people with chronic plaque psoriasis, guttate psoriasis, and palmoplantar pustulosis.[98][99]
### Diet[edit]
Uncontrolled studies have suggested that individuals with psoriasis or psoriatic arthritis may benefit from a diet supplemented with fish oil rich in eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA).[100] A low-calorie diet appears to improve the severity of psoriasis.[38] Diet recommendations include consumption of cold water fish (preferably wild fish, not farmed) such as salmon, herring, and mackerel; extra virgin olive oil; legumes; vegetables; fruits; and whole grains; and avoid consumption of alcohol, red meat, and dairy products (due to their saturated fat). The effect of consumption of caffeine (including coffee, black tea, mate, and dark chocolate) remains to be determined.[101]
There is a higher rate of celiac disease among people with psoriasis.[101][102] When adopting a gluten-free diet, disease severity generally decreases in people with celiac disease and those with anti-gliadin antibodies.[100][103][104]
## Prognosis[edit]
Most people with psoriasis experience nothing more than mild skin lesions that can be treated effectively with topical therapies.[70]
Psoriasis is known to have a negative impact on the quality of life of both the affected person and the individual's family members.[33] Depending on the severity and location of outbreaks, individuals may experience significant physical discomfort and some disability. Itching and pain can interfere with basic functions, such as self-care and sleep.[48] Participation in sporting activities, certain occupations, and caring for family members can become difficult activities for those with plaques located on their hands and feet.[48] Plaques on the scalp can be particularly embarrassing, as flaky plaque in the hair can be mistaken for dandruff.[105]
Individuals with psoriasis may feel self-conscious about their appearance and have a poor self-image that stems from fear of public rejection and psychosexual concerns. Psoriasis has been associated with low self-esteem and depression is more common among those with the condition.[3] People with psoriasis often feel prejudiced against due to the commonly held incorrect belief that psoriasis is contagious.[48] Psychological distress can lead to significant depression and social isolation; a high rate of thoughts about suicide has been associated with psoriasis.[20] Many tools exist to measure the quality of life of people with psoriasis and other dermatological disorders. Clinical research has indicated individuals often experience a diminished quality of life.[106] Children with psoriasis may encounter bullying.[107]
Several conditions are associated with psoriasis. These occur more frequently in older people. Nearly half of individuals with psoriasis over the age of 65 have at least three comorbidities (concurrent conditions), and two-thirds have at least two comorbidities.[108]
### Cardiovascular disease[edit]
Psoriasis has been associated with obesity[3] and several other cardiovascular and metabolic disturbances. The number of new cases per year of diabetes is 27% higher in people affected by psoriasis than in those without the condition.[109] Severe psoriasis may be even more strongly associated with the development of diabetes than mild psoriasis.[109] Younger people with psoriasis may also be at increased risk for developing diabetes.[108][110] Individuals with psoriasis or psoriatic arthritis have a slightly higher risk of heart disease and heart attacks when compared to the general population. Cardiovascular disease risk appeared to be correlated with the severity of psoriasis and its duration. There is no strong evidence to suggest that psoriasis is associated with an increased risk of death from cardiovascular events. Methotrexate may provide a degree of protection for the heart.[37][108]
The odds of having hypertension are 1.58 times higher in people with psoriasis than those without the condition; these odds are even higher with severe cases of psoriasis. A similar association was noted in people who have psoriatic arthritis—the odds of having hypertension were found to be 2.07 times greater when compared to odds of the general population. The link between psoriasis and hypertension is not currently[when?] understood. Mechanisms hypothesized to be involved in this relationship include the following: dysregulation of the renin–angiotensin system, elevated levels of endothelin 1 in the blood, and increased oxidative stress.[110][111] The number of new cases of the heart rhythm abnormality atrial fibrillation is 1.31 times higher in people with mild psoriasis and 1.63 times higher in people with severe psoriasis.[112] There may be a slightly increased risk of stroke associated with psoriasis, especially in severe cases.[37][113] Treating high levels of cholesterol with statins has been associated with decreased psoriasis severity, as measured by PASI score, and has also been associated with improvements in other cardiovascular disease risk factors such as markers of inflammation.[114] These cardioprotective effects are attributed to ability of statins to improve blood lipid profile and because of their anti-inflammatory effects. Statin use in those with psoriasis and hyperlipidemia was associated with decreased levels of high-sensitivity C-reactive protein and TNFα as well as decreased activity of the immune protein LFA-1.[114] Compared to individuals without psoriasis, those affected by psoriasis are more likely to satisfy the criteria for metabolic syndrome.[16][112]
### Other diseases[edit]
The rates of Crohn disease and ulcerative colitis are increased when compared with the general population, by a factor of 3.8 and 7.5 respectively.[3] People with psoriasis also have a higher risk of celiac disease.[101][104] Few studies have evaluated the association of multiple sclerosis with psoriasis, and the relationship has been questioned.[3][115] Psoriasis has been associated with a 16% increase in overall relative risk for non-skin cancer.[37] People with psoriasis have a 52% increased risk cancers of the lung and bronchus, a 205% increase in the risk of developing cancers of the upper gastrointestinal tract, a 31% increase in the risk of developing cancers of the urinary tract, a 90% increase in the risk of developing liver cancer, and a 46% increase in the risk of developing pancreatic cancer.[37] The risk for development of non-melanoma skin cancers is also increased. Psoriasis increases the risk of developing squamous cell carcinoma of the skin by 431% and increases the risk of basal cell carcinoma by 100%.[37] There is no increased risk of melanoma associated with psoriasis.[37] People with psoriasis have a higher risk of developing cancer.[116]
## Epidemiology[edit]
Psoriasis is estimated to affect 2–4% of the population of the western world.[7] The rate of psoriasis varies according to age, region and ethnicity; a combination of environmental and genetic factors is thought to be responsible for these differences.[7] It can occur at any age, although it most commonly appears for the first time between the ages of 15 and 25 years. Approximately one third of people with psoriasis report being diagnosed before age 20.[117] Psoriasis affects both sexes equally.[59]
Psoriasis affects about 6.7 million Americans and occurs more frequently in adults.[5]
Psoriasis is about five times more common in people of European descent than in people of Asian descent.[118]
People with inflammatory bowel disease such as Crohn disease or ulcerative colitis are at an increased risk of developing psoriasis.[45] Psoriasis is more common in countries farther from the equator.[45] Persons of white European ancestry are more likely to have psoriasis and the condition is relatively uncommon in African Americans and extremely uncommon in Native Americans.[46]
## History[edit]
Scholars believe psoriasis to have been included among the various skin conditions called tzaraath (translated as leprosy) in the Hebrew Bible, a condition imposed as a punishment for slander. The person was deemed "impure" (see tumah and taharah) during their afflicted phase and is ultimately treated by the kohen.[119] However, it is more likely that this confusion arose from the use of the same Greek term for both conditions. The Greeks used the term lepra (λεπρα) for scaly skin conditions. They used the term psora to describe itchy skin conditions.[119] It became known as Willan's lepra in the late 18th century when English dermatologists Robert Willan and Thomas Bateman differentiated it from other skin diseases. Leprosy, they said, is distinguished by the regular, circular form of patches, while psoriasis is always irregular. Willan identified two categories: leprosa graecorum and psora leprosa.[120]
Psoriasis is thought to have first been described in Ancient Rome by Cornelius Celsus.[121] The British dermatologist Thomas Bateman described a possible link between psoriasis and arthritic symptoms in 1813.[121]
The history of psoriasis is littered with treatments of dubious effectiveness and high toxicity. In the 18th and 19th centuries, Fowler's solution, which contains a poisonous and carcinogenic arsenic compound, was used by dermatologists as a treatment for psoriasis.[119] Mercury was also used for psoriasis treatment during this time period.[119] Sulfur, iodine, and phenol were also commonly used treatments for psoriasis during this era when it was incorrectly believed that psoriasis was an infectious disease.[119] Coal tars were widely used with ultraviolet light irradiation as a topical treatment approach in the early 1900s.[119][122] During the same time period, psoriatic arthritis cases were treated with intravenously administered gold preparations in the same manner as rheumatoid arthritis.[122]
## Society and culture[edit]
The International Federation of Psoriasis Associations (IFPA) is the global umbrella organization for national and regional psoriasis associations and also gathers the leading experts in psoriasis and psoriatic arthritis research for scientific conferences every three years.[123] The Psoriasis International Network, a program of the Fondation René Touraine, gathers dermatologists, rheumatologists and other caregivers involved in the management of psoriasis. Non-profit organizations the National Psoriasis Foundation in the United States, the Psoriasis Association in the United Kingdom and Psoriasis Australia offer advocacy and education about psoriasis in their respective countries.
### Cost[edit]
The annual cost for treating psoriasis in the United States is estimated as high as $32.5 billion, including $12.2 billion in direct costs. Pharmacy costs are the main source of direct expense, with biologic therapy the most prevalent. These costs increase significantly when co-morbid conditions such as heart disease, hypertension, diabetes, lung disease and psychiatric disorders are factored in. Expenses linked to co-morbidities are estimated at an additional $23,000 per person per year.[124]
## Research[edit]
The role of insulin resistance in the pathogenesis of psoriasis is under investigation. Preliminary research has suggested that antioxidants such as polyphenols may have beneficial effects on the inflammation characteristic of psoriasis.[125]
Many novel medications being researched[when?] target the Th17/IL-23 axis,[125] particularly IL-23p19 inhibitors, as IL-23p19 is present in increased concentrations in psoriasis skin lesions while contributing less to protection against opportunistic infections.[126] Other cytokines such as IL-17 and IL-22 also have been targets for inhibition as they play important roles in the pathogenesis of psoriasis.[126] Another avenue of research has focused on the use of vascular endothelial growth factor inhibitors to treat psoriasis.[61] Oral agents being investigated[when?] as alternatives to medications administered by injection include Janus kinase inhibitors, protein kinase C inhibitors, mitogen-activated protein kinase inhibitors, and phosphodiesterase 4 inhibitors, all of which have proven effective in various phase 2 and 3 clinical trials.[125][126] These agents have potentially severe side-effects due to their immunosuppressive mechanisms.[126]
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111. ^ Armstrong AW, Harskamp CT, Armstrong EJ (March 2013). "The association between psoriasis and hypertension: a systematic review and meta-analysis of observational studies". Journal of Hypertension. 31 (3): 433–42, discussion 442–3. doi:10.1097/HJH.0b013e32835bcce1. PMID 23249828. S2CID 23724435.
112. ^ a b Tablazon IL, Al-Dabagh A, Davis SA, Feldman SR (February 2013). "Risk of cardiovascular disorders in psoriasis patients: current and future". American Journal of Clinical Dermatology. 14 (1): 1–7. doi:10.1007/s40257-012-0005-5. PMID 23329076. S2CID 207482092.
113. ^ "Psoriasis Linked to Stroke Risk". BBC. August 2011. Archived from the original on 28 August 2011.
114. ^ a b Ghazizadeh R, Tosa M, Ghazizadeh M (May 2011). "Clinical improvement in psoriasis with treatment of associated hyperlipidemia". The American Journal of the Medical Sciences. 341 (5): 394–8. doi:10.1097/MAJ.0b013e3181ff8eeb. PMID 21233693. S2CID 12519829.
115. ^ Hsu LN, Armstrong AW (November 2012). "Psoriasis and autoimmune disorders: a review of the literature". Journal of the American Academy of Dermatology. 67 (5): 1076–9. doi:10.1016/j.jaad.2012.01.029. PMID 23062896.
116. ^ Trafford AM, Parisi R, Kontopantelis E, Griffiths CE, Ashcroft DM (October 2019). "Association of Psoriasis With the Risk of Developing or Dying of Cancer: A Systematic Review and Meta-analysis". JAMA Dermatology. doi:10.1001/jamadermatol.2019.3056. PMC 6802036. PMID 31617868. Lay summary – The New York Times (16 October 2019).
117. ^ Benoit S, Hamm H (2007). "Childhood psoriasis". Clinics in Dermatology. 25 (6): 555–62. doi:10.1016/j.clindermatol.2007.08.009. PMID 18021892.
118. ^ https://www.psoriasis.org/advance/why-psoriasis-less-common-asians?gclid=CjwKCAjw7e_0BRB7EiwAlH-goM_ezPSlWS2ML0eoE6gAG7GUYTFm_vq9MZNJwGNlYetZ77BtnyG4xhoC4CoQAvD_BwE
119. ^ a b c d e f Gruber F, Kastelan M, Brajac I (2004). "Psoriasis treatment--yesterday, today, and tomorrow". Acta Dermatovenerologica Croatica. 12 (1): 30–4. PMID 15072746.
120. ^ Meenan FO (March 1955). "A note on the history of psoriasis". Irish Journal of Medical Science. 30 (351): 141–2. doi:10.1007/bf02949688. PMID 14353580. S2CID 27467338.
121. ^ a b Benedek TG (June 2013). "Psoriasis and psoriatic arthropathy, historical aspects: part I". Journal of Clinical Rheumatology. 19 (4): 193–8. doi:10.1097/RHU.0b013e318293eaeb. PMID 23669809. S2CID 5813486.
122. ^ a b Benedek TG (August 2013). "Psoriasis and psoriatic arthropathy: historical aspects: part II". Journal of Clinical Rheumatology. 19 (5): 267–71. doi:10.1097/RHU.0b013e31829d4ad4. PMID 23872545. S2CID 199596315.
123. ^ International Federation of Psoriasis Associations Archived 2008-11-21 at the Wayback Machine. Ifpa-pso.org. Retrieved on 2013-06-08.
124. ^ Evans C (June 2016). "Managed care aspects of psoriasis and psoriatic arthritis". The American Journal of Managed Care. 22 (8 Suppl): s238-43. PMID 27356195. Archived from the original on 2 February 2017.
125. ^ a b c Dubois Declercq S, Pouliot R (July 2013). "Promising new treatments for psoriasis". TheScientificWorldJournal. 2013 (980419): 980419. doi:10.1155/2013/980419. PMC 3713318. PMID 23935446.
126. ^ a b c d Patel M, Day A, Warren RB, Menter A (December 2012). "Emerging therapies for the treatment of psoriasis". Dermatology and Therapy. 2 (1): 16. doi:10.1007/s13555-012-0016-4. PMC 3510410. PMID 23205338.
## Further reading[edit]
* Baker BS (2008). From Arsenic to Biologicals: A 200 Year History of Psoriasis. Beckenham UK: Garner. ISBN 978-0-9551603-2-5.
* "Guidelines for the assessment and management of psoriasis". U.S. National Guideline Clearinghouse. Archived from the original on 27 September 2013. Retrieved 26 July 2013.
* World Health Organization (2016). Global report on psoriasis. World Health Organization (WHO). hdl:10665/204417. ISBN 9789241565189.
## External links[edit]
Classification
D
* ICD-10: L40
* ICD-9-CM: 696
* OMIM: 177900
* MeSH: D011565
* DiseasesDB: 10895
External resources
* MedlinePlus: 000434
* eMedicine: emerg/489 plaque derm/365, guttate derm/361, nails derm/363, pustular derm/366
Wikimedia Commons has media related to Psoriasis.
* "Psoriasis Treatments Are Getting More Personalized". U.S. Food and Drug Administration (FDA).
* "Psoriatic arthritis". Genetics Home Reference.
* "Psoriasis". MedlinePlus. U.S. National Library of Medicine.
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Papulosquamous disorders
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* Medicine portal
Authority control
* GND: 4077221-4
* LCCN: sh85108334
* NDL: 00954062
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Psoriasis
|
c0033860
| 25,456 |
wikipedia
|
https://en.wikipedia.org/wiki/Psoriasis
| 2021-01-18T18:32:12 |
{"gard": ["10262"], "mesh": ["D011565"], "umls": ["C0033860"], "wikidata": ["Q179945"]}
|
47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. For some males with this syndrome, signs and symptoms are barely noticeable. For others, signs and symptoms may include learning disabilities, speech delay, low muscle tone (hypotonia), and being taller than expected.
47, XYY syndrome is caused by having an extra copy of the Y chromosome in every cell of the body. The syndrome is usually not inherited. Diagnosis can be made based on prenatal tests, or it may occur during childhood or adulthood if a male has signs or symptoms of the disease. Management may include special education as well as intervention or therapies for developmental delays.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
47, XYY syndrome
|
c3266843
| 25,457 |
gard
|
https://rarediseases.info.nih.gov/diseases/5674/47-xyy-syndrome
| 2021-01-18T17:56:59 |
{"mesh": ["C535317"], "orphanet": ["8"], "synonyms": ["YY syndrome", "XYY syndrome", "XYY Karyotype", "Jacobs syndrome", "47,XYY syndrome", "Disomy Y", "Double Y", "Double Y syndrome", "Y disomy"]}
|
See also: Morphia (disambiguation) and Morphine
Form of scleroderma involving isolated patches of hardened skin
Morphea
Other namesLocalized scleroderma or Circumscribed scleroderma
SpecialtyDermatology
Morphea, is a form of scleroderma that involves isolated patches of hardened skin on the face, hands, and feet, or anywhere else on the body, with no internal organ involvement.[1]:130
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
Frontal linear scleroderma
Morphea most often presents as macules or plaques a few centimeters in diameter, but also may occur as bands or in guttate lesions or nodules.[2]:171
Morphea is a thickening and hardening of the skin and subcutaneous tissues from excessive collagen deposition. Morphea includes specific conditions ranging from very small plaques only involving the skin to widespread disease causing functional and cosmetic deformities. Morphea discriminates from systemic sclerosis by its supposed lack of internal organ involvement.[3] This classification scheme does not include the mixed form of morphea in which different morphologies of skin lesions are present in the same individual. Up to 15% of morphea patients may fall into this previously unrecognized category.[4]
## Cause[edit]
Physicians and scientists do not know what causes morphea. Case reports and observational studies suggest there is a higher frequency of family history of autoimmune diseases in patients with morphea.[4] Tests for autoantibodies associated with morphea have shown results in higher frequencies of anti-histone and anti-topoisomerase IIa antibodies.[5] Case reports of morphea co-existing with other systemic autoimmune diseases such as primary biliary cirrhosis, vitiligo, and systemic lupus erythematosus lend support to morphea as an autoimmune disease.[6][7][8]
Borrelia burgdorferi infection may be relevant for the induction of a distinct autoimmune type of scleroderma; it may be called "Borrelia-associated early onset morphea" and is characterized by the combination of disease onset at younger age, infection with B. burgdorferi, and evident autoimmune phenomena as reflected by high-titer antinuclear antibodies.[9]
## Diagnosis[edit]
### Classification[edit]
* Morphea–lichen sclerosus et atrophicus overlap is characterized by both lesions of morphea and lichen sclerosus et atrophicus, most commonly seen in women.[2]:171
* Generalized morphea is characterized by widespread indurated plaques and pigmentary changes, sometimes associated with muscle atrophy, but without visceral involvement.[2]:171
* Morphea profunda involves deep subcutaneous tissue, including fascia, and there is a clinical overlap with eosinophilic fasciitis, eosinophilia-myalgia syndrome, and the Spanish toxic oil syndrome.[2]:171 Morphea profunda shows little response to corticosteroids and tends to run a more chronic debilitating course.[2]:171
* Pansclerotic morphea is manifested by sclerosis of the dermis, panniculus, fascia, muscle, and at times, the bone, all causing disabling limitation of motion of joints.[2]:171
* Linear scleroderma is a type of localised scleroderma[10] which is an autoimmune disease characterized by a line of thickened skin which can affect the bones and muscles underneath it. It most often occurs in the arms, legs, or forehead, and may occur in more than one area. It is also most likely to be on just one side of the body. Linear scleroderma generally first appears in young children.[2]
* Frontal linear scleroderma (also known as en coup de sabre or morphea en coup de sabre) is a type of linear scleroderma characterized by a linear band of atrophy and a furrow in the skin that occurs in the frontal or frontoparietal scalp.[11][12] Multiple lesions of en coup de sabre may coexist in a single patient, with one report suggesting that the lesions followed Blaschko's lines.[12] It gets its name from the perceived similarity to a sabre wound.[13]
Frontal linear scleroderma
* Atrophoderma of Pasini and Pierini (also known as "Dyschromic and atrophic variation of scleroderma,"[11] "Morphea plana atrophica,"[11] "Sclérodermie atrophique d'emblée"[11]) is a disease characterized by large lesions with a sharp peripheral border dropping into a depression with no outpouching, which, on biopsy, elastin is normal, while collagen may be thickened.[14] Atrophoderma of Pasini and Pierini affects less than 200,000 Americans and is classified as a rare disease by http://rarediseases.info.nih.gov. The disease results in round or oval patches of hyper-pigmented skin. The darkened skin patches may sometimes have a bluish or purplish hue when they first appear and are often smooth to the touch and hairless.
## Treatment[edit]
Throughout the years, many different treatments have been tried for morphea including topical, intra-lesional, and systemic corticosteroids. Antimalarials such as hydroxychloroquine or chloroquine have been used. Other immunomodulators such as methotrexate, topical tacrolimus, and penicillamine have been tried. Children and teenagers with active morphea (linear scleroderma, generalised morphea and mixed morphea: linear and circumscribed) may experience greater improvement of disease activity or damage with oral methotrexate plus prednisone than with placebo plus prednisone.[15] Some have tried prescription vitamin-D with success. Ultraviolet A (UVA) light, with or without psoralens have also been tried. UVA-1, a more specific wavelength of UVA light, is able to penetrate the deeper portions of the skin and thus, thought to soften the plaques in morphea by acting in two fashions: by causing a systemic immunosuppression from UV light, or by inducing enzymes that naturally degrade the collagen matrix in the skin as part of natural sun-aging of the skin. [1] However there is limited evidence that UVA‐1 (50 J/cm²), low‐dose UVA‐1 (20 J/cm²), and narrowband UVB differ from each other in effectivness in treating children and adults with active morphea.[15]
## Epidemiology[edit]
Morphea is a form of scleroderma that is more common in women than men, in a ratio 3:1.[16] Morphea occurs in childhood as well as in adult life.[2] Morphea is an uncommon condition that is thought to affect 2 to 4 in 100,000 people.[17] Adequate studies on the incidence and prevalence have not been performed. Morphea also may be under-reported, as physicians may be unaware of this disorder, and smaller morphea plaques may be less often referred to a dermatologist or rheumatologist.[citation needed]
## See also[edit]
* List of cutaneous conditions
* Frontal linear scleroderma (morphea en coup de sabre)
## References[edit]
1. ^ Fitzpatrick, Thomas B. (2005). Fitzpatrick's color atlas and synopsis of clinical dermatology (5th ed.). New York: McGraw-Hill Medical Pub. Division. ISBN 978-0-07-144019-6.
2. ^ a b c d e f g h James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 171. ISBN 0-7216-2921-0.
3. ^ Peterson LS, Nelson AM, Su WP (1995). "Classification of morphea (localized scleroderma)". Mayo Clin. Proc. 70 (11): 1068–76. doi:10.4065/70.11.1068. PMID 7475336.
4. ^ a b Zulian F, Athreya BH, Laxer R (2006). "Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study". Rheumatology (Oxford). 45 (5): 614–20. doi:10.1093/rheumatology/kei251. PMID 16368732.
5. ^ Hayakawa I, Hasegawa M, Takehara K, Sato S (2004). "Anti-DNA topoisomerase IIalpha autoantibodies in localized scleroderma". Arthritis Rheum. 50 (1): 227–32. doi:10.1002/art.11432. PMID 14730620.
6. ^ Majeed M, Al-Mayouf SM, Al-Sabban E, Bahabri S (2000). "Coexistent linear scleroderma and juvenile systemic lupus erythematosus". Pediatr Dermatol. 17 (6): 456–9. doi:10.1046/j.1525-1470.2000.01820.x. PMID 11123778. S2CID 30359530.
7. ^ Bonifati C, Impara G, Morrone A, Pietrangeli A, Carducci M (2006). "Simultaneous occurrence of linear scleroderma and homolateral segmental vitiligo". J Eur Acad Dermatol Venereol. 20 (1): 63–5. doi:10.1111/j.1468-3083.2005.01336.x. PMID 16405610. S2CID 11523611.
8. ^ González-López MA, Drake M, González-Vela MC, Armesto S, Llaca HF, Val-Bernal JF (2006). "Generalized morphea and primary biliary cirrhosis coexisting in a male patient". J. Dermatol. 33 (10): 709–13. doi:10.1111/j.1346-8138.2006.00165.x. PMID 17040502. S2CID 29859708.
9. ^ Prinz JC, Kutasi Z, Weisenseel P, Pótó L, Battyáni Z, Ruzicka T (2009). ""Borrelia-associated early-onset morphea": a particular type of scleroderma in childhood and adolescence with high titer antinuclear antibodies? Results of a cohort analysis and presentation of three cases". J Am Acad Dermatol. 60 (2): 248–55. doi:10.1016/j.jaad.2008.09.023. PMID 19022534.
10. ^ "linear scleroderma" at Dorland's Medical Dictionary
11. ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
12. ^ a b Katz, KA (October 2003). "Frontal linear scleroderma (en coup de sabre)". Dermatology Online Journal. 9 (4): 10. PMID 14594583.
13. ^ "coup de sabre" at Dorland's Medical Dictionary
14. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 1029. McGraw-Hill. ISBN 0-07-138076-0.
15. ^ a b Albuquerque, Julia V de; Andriolo, Brenda NG; Vasconcellos, Monica RA; Civile, Vinicius T; Lyddiatt, Anne; Trevisani, Virginia FM (2019-07-16). "Interventions for morphea". Cochrane Database of Systematic Reviews. 7: CD005027. doi:10.1002/14651858.cd005027.pub5. ISSN 1465-1858. PMC 6630193. PMID 31309547.
16. ^ Laxer RM, Zulian F (2006). "Localized scleroderma". Curr Opin Rheumatol. 18 (6): 606–13. doi:10.1097/01.bor.0000245727.40630.c3. PMID 17053506. S2CID 42839634.
17. ^ Peterson LS, Nelson AM, Su WP, Mason T, O'Fallon WM, Gabriel SE (1997). "The epidemiology of morphea (localized scleroderma) in Olmsted County 1960-1993". J. Rheumatol. 24 (1): 73–80. PMID 9002014.
## Further reading[edit]
* JAMA Dermatology Patient Page. Morphea (Localized Scleroderma. Nicole M. Fett, MD. JAMA Dermatol. 2013;149(9):1124. doi:10.1001/jamadermatol.2013.5079. September 2013
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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|
Morphea
|
c0036420
| 25,458 |
wikipedia
|
https://en.wikipedia.org/wiki/Morphea
| 2021-01-18T18:30:19 |
{"gard": ["7058", "10485"], "mesh": ["D012594"], "umls": ["C0036420"], "orphanet": ["90289"], "wikidata": ["Q3324389"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (September 2013) (Learn how and when to remove this template message)
Trochleitis is inflammation of the superior oblique tendon trochlea apparatus characterized by localized swelling, tenderness, and severe pain. This condition is an uncommon but treatable cause of periorbital pain. The trochlea is a ring-like apparatus of cartilage through which passes the tendon of the superior oblique muscle. It is located in the superior nasal orbit and functions as a pulley for the superior oblique muscle. Inflammation of the trochlear region leads to a painful syndrome with swelling and exquisite point tenderness in the upper medial rim of the orbit. A vicious cycle may ensue such that inflammation causes swelling and fraying of the tendon which then increases the friction of passing through the trochlea which in turn adds to the inflammation. Trochleitis has also been associated with triggering or worsening of migraine attacks in patients with pre-existing migraines (Yanguela, 2002).
## Contents
* 1 Symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 History
* 6 References
## Symptoms[edit]
Patients with trochleitis typically experience a dull fluctuating aching over the trochlear region developing over a few days. Some may also feel occasional sharp pains punctuating the ache. In patients with migraines, trochleitis may occur simultaneously with headache. Presentation is usually unilateral with palpable swelling over the affected area supranasal to the eye. The trochlear region is extremely tender to touch. Pain is exacerbated by eye movements looking down and inwards, and especially in supraduction (looking up) and looking outwards, which stretches the superior oblique muscle tendon. Notably, there is no restriction of extraocular movements, no diplopia, and often no apparent ocular signs such as proptosis. However, occasionally mild ptosis is found. The absence of generalized signs of orbital involvement is helpful in eliminating other more common causes of periorbital pain.
## Cause[edit]
The cause of trochleitis is often unknown (idiopathic trochleitis), but it has been known to occur in patients with rheumatological diseases such as systemic lupus erythematosus, rheumatoid arthritis, enteropathic arthropathy, and psoriasis. In his study, Tychsen and his group evaluated trochleitis patients with echography and CT scan to demonstrate swelling and inflammation. Imaging studies showed inflammation of superior oblique tendon/ trochlear pulley. It was unclear whether the inflammation involved the trochlea itself, or the tissues surrounding the trochlea.
## Diagnosis[edit]
Trochleitis is diagnosed based on three criteria: 1) demonstration of inflammation of superior oblique tendon/ trochlea region, 2) periorbital pain and tenderness to palpation in the area of the sore trochlea, and 3) worsening of pain on attempted vertical eye movement, particularly with adduction of the eye. It is important to identify trochleitis because it is a treatable condition and the patient can benefit much from pain relief. Treatment consists of a single injection of corticosteroids to the affected peritrochlear region.
## Treatment[edit]
A specific "cocktail" consisting of depomedrol and lidocaine can be injected into the trochlea; immediate relief due to the effects of the local anesthetic indicates successful placement. However, great care must be taken as the injection is in the region of several arteries, veins and nerves. The needle should not be too small (so as not to penetrate tiny structures), the surgeon should draw back on the syringe (to ensure not have pierced a vessel), the lidocaine should not contain epinephrine (which could cause vasospasm), and the pressure of the injection must always be controlled. Only a limited number of injections can be made as they would otherwise lead to muscle atrophy. Diagnosis can be confirmed by response to this treatment; pain and swelling are expected to disappear in 48–72 hours. Some patients experience recurrence of trochleitis.
## History[edit]
Trochleitis was first identified in 1984 by Tychsen, et al. in a study of thirteen patients with orbital pain and point tenderness over the trochlear region. Previously, the trochleitis syndrome had been included in the broad category of idiopathic orbital inflammation (also called orbital pseudotumor). From the study, Tychsen and his group surmised that trochleitis was a subtype of idiopathic orbital inflammation distinct from the larger category in that it produced little/ no discernible ocular signs (the eye looked normal) and did not cause restricted extraocular movement.
## References[edit]
* Tychsen L, Tse DT, Ossoinig K, Anderson RL. Trochleitis with superior oblique myositis. Ophthalmology 1984;91:1075-1079
* Yanguela J, Pareja JA, Lopez N, et al. Trochleitis and migraine headache. Neurology 2002;58:802-805.
* Yanguela J, Sanchez-del-Rio M, Bueno A, et al. Primary trochlear headache: A new cephalgia generated and modulated on the trochlear region. Neurology 2004: 62:1134-1140.
* v
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Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Trochleitis
|
None
| 25,459 |
wikipedia
|
https://en.wikipedia.org/wiki/Trochleitis
| 2021-01-18T19:00:04 |
{"gard": ["12113"], "umls": ["CL495203"], "wikidata": ["Q7844856"]}
|
## Clinical Features
Ryan and Wells (1971) described 7 kindreds in each of which several persons had widespread telangiectases. The areas affected were predominantly the face, upper limbs, and upper trunk. The telangiectases were venular and associated with upper dermal atrophy. Wells and Dowling (1981) reported 3 affected families with an autosomal dominant pattern. Person and Longcope (1985) described a 21-year-old man with hereditary benign telangiectasia whose mother and 1 of his 2 sisters were similarly affected. No mucosal lesions or history of hemorrhagic problems were elicited. The authors noted that the disorder, also known as generalized essential telangiectasia, occurs more frequently in women. Person and Longcope (1985) could not demonstrate estrogen or progesterone receptors in the skin lesions of their proband. They were prompted to look for receptors because of the finding of a considerable increase in such receptors in the lesion of unilateral nevoid telangiectasia (Uhlin and McCarty, 1983), a segmental disorder seen in women at puberty, during pregnancy, or while taking contraceptives, but also observed in men with hepatic cirrhosis.
Brancati et al. (2003) reported a large family from northern Italy in which 13 members over 3 generations had autosomal dominant hereditary benign telangiectasia. Age at onset could not always be determined, but some parents noted macular telangiectases in their sons during the first months of life. There was a large variability in size (1 x 1 to 6 x 4 cm) and number (1 to greater than 10) of telangiectases observed among affected family members, but lesions invariably became paler with increasing age. Histologic examination showed normal epidermis and dilatation of the smallest blood vessels of the upper part of the dermis.
Mapping
In a large family with HBT from northern Italy, Brancati et al. (2003) found linkage to a 7-Mb region on chromosome 5q14 (maximum lod score of 5.27 at marker D5S641). The authors noted that the linked interval in this family coincided with the CMC1 locus (163000), suggesting that HBT and capillary malformations may be variable clinical presentations of the same disorder.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Telangiectases, random body distribution \- Small, red lesion, may increase in size with age \- Lesions become soft and paler with age \- Size variation (1 x 1 to 6 x 4 cm) \- Variable number of lesions (1 to greater than 10) \- No hemorrhage \- No systemic vascular lesions Skin Histology \- Dilatation of the small vessels in the upper part of the dermis \- Usually venules, but can also be capillaries and arterioles MISCELLANEOUS \- Onset usually in early childhood \- More frequent in females ▲ 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
|
TELANGIECTASIA, HEREDITARY BENIGN
|
c0406502
| 25,460 |
omim
|
https://www.omim.org/entry/187260
| 2019-09-22T16:32:49 |
{"mesh": ["C562908"], "omim": ["187260"], "synonyms": ["Alternative titles", "HBT", "TELANGIECTASIA, GENERALIZED ESSENTIAL"]}
|
A rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
## Epidemiology
The prevalence is unknown but the estimated incidence is at around 200 patients worldwide.
## Clinical description
The disease usually begins in the first year of life and consists of recurrent attacks of fever along with abdominal pain, vomiting and diarrhea. Joint involvement (arthralgias/arthritis), swollen lymph nodes, skin lesions, and headaches are also observed. Attacks usually last 3-7 days and recur every 2-8 weeks but can vary between patients. Frequency of attacks is highest during childhood and usually decreases with age. These attacks can occur spontaneously or be triggered by vaccinations, infections, emotional or physical stress. Growth and development is usually not affected in HIDS patients. Disease complications sometimes seen in adults include amyloidosis, abdominal adhesions and very rarely joint contractures.
## Etiology
HIDS is an autosomal recessively inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene. Due to this mutation HIDS patients have MVK enzymes with reduced, but not abolished activity.
## Diagnostic methods
Diagnosis is based on clinical characteristics of the disease along with genetic or biochemical proof of a MVK deficiency. Serum IgD values are often elevated (although IgD levels are often normal in patients under the age of 3). Elevated IgA levels are also noted in 80% of patients. During an attack, erythrocyte sedimentation rate is increased as well as serum C-reactive protein (CRP), IL-1, IL-6 and TNF-alpha levels. Genetic testing will reveal a mutation in the MVK gene in all patients with HIDS.
## Differential diagnosis
Mevalonic aciduria (MVA; see this term) is also caused by a mutation in the MVK gene, but it results in a nearly complete MVK deficiency. Other autoinflammatory disorders like familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Muckle-Wells syndrome (see these terms) should be eliminated. In children, the clinical picture of HIDS can be indistinguishable from periodic fever aphtosis pharyngitis adenitis (PFAPA) syndrome.
## Antenatal diagnosis
Antenatal diagnosis is theoretically possible, but not usually done.
## Genetic counseling
When a couple has an affected child, there is a 25% recurrence risk in a next child. Genetic counselling is therefore recommended.
## Management and treatment
There is no cure for HIDS and currently no established treatment. Some patients have responded to high-dose prednisone. Anakinra (an IL-1 receptor antagonist) has also been successful in some cases as has the TNF-alpha inhibitor etanercept.
## Prognosis
HIDS has a good prognosis. Life expectancy is not shortened except for in rare cases where severe infections or renal amyloidosis occur.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hyperimmunoglobulinemia D with periodic fever
|
c0398691
| 25,461 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=343
| 2021-01-23T17:40:51 |
{"gard": ["2788"], "mesh": ["D054078"], "omim": ["260920"], "umls": ["C0398691"], "icd-10": ["E85.0"], "synonyms": ["HIDS", "Hyper-IgD syndrome", "Hyperimmunoglobinemia D with recurrent fever", "Hyperimmunoglobulinemia D syndrome", "Partial mevalonate kinase deficiency"]}
|
Caccamise and Townes (1976) described a family in which 8 females in 4 generations showed bilateral congenital mydriasis. Curiously, all females seem to have been affected; e.g., all 4 females, but none of 6 males, were affected in 1 sibship. The pupils showed anomalous responses to pharmacologic agents. Apparently no affected females had had abortions (a point of interest in connection with X-linked dominant inheritance with lethality in the hemizygous male). Chromosome studies were not reported.
Eyes \- Bilateral congenital mydriasis \- Anomalous pupillary response to pharmacologic agents 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
|
MYDRIASIS, CONGENITAL
|
c1303010
| 25,462 |
omim
|
https://www.omim.org/entry/159420
| 2019-09-22T16:37:56 |
{"mesh": ["C563221"], "omim": ["159420"]}
|
Houlston et al. (1992) described 2 sisters with mental retardation, microcephaly, marfanoid habitus, and glomerulonephritis. Microcephaly, present at birth, was associated in both with prominent fourth ventricles by computerized tomographic scans, but no other cerebral anomalies. Both had relatively tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity. One also had dorsal kyphosis. In both, glomerulonephritis was diagnosed during the second decade. Mental retardation was moderate in severity (IQs 48 and 50). Renal failure necessitated dialysis and transplantation. The older sister was 18 years of age at the time of report.
Radiology \- Prominent fourth ventricles by CT scan Skel \- Marfanoid habitus \- Arachnodactyly \- Dorsal kyphosis GU \- Glomerulonephritis \- Renal failure Growth \- Tall stature Neuro \- Mental retardation Joints \- Joint laxity HEENT \- Microcephaly \- High arched palate \- Prognathism 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
|
MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS
|
c1855348
| 25,463 |
omim
|
https://www.omim.org/entry/248760
| 2019-09-22T16:25:31 |
{"mesh": ["C565411"], "omim": ["248760"], "orphanet": ["2172"]}
|
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
X-linked epilepsy-learning disabilities-behavior disorders syndrome
|
c1845343
| 25,464 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85294
| 2021-01-23T19:11:49 |
{"mesh": ["C564505"], "omim": ["300491"], "umls": ["C1845343"], "icd-10": ["Q87.8"]}
|
A number sign (#) is used with this entry because of evidence that Gillespie syndrome (GLSP) is caused by heterozygous mutation in the ITPR1 gene (147265) on chromosome 3p26. Some patients have been reported with homozygous or compound heterozygous mutation in the ITPR1 gene.
Description
Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
Clinical Features
Gillespie (1965) described brothers and sisters with aniridia, cerebellar ataxia, and mental retardation, which had apparently not been reported previously, although cerebellar ataxia, mental deficiency and congenital cataracts are known in the Marinesco-Sjogren syndrome. The karyotype of each patient was normal. Sarsfield (1971) reported a further example of this triad in a male, the second child of normal parents. Bilateral partial aniridia was noted at birth and developmental milestones were subsequently delayed. Although muscle biopsies and nerve conduction times were normal, there was persistent hypotonia with normal tendon reflexes and sensation, but with gross uncoordination, attention tremor, and scanning speech. There was some improvement in motor performance with age, but mental retardation was evident. All laboratory investigations, including karyotype, were normal.
Crawfurd et al. (1979) described an affected brother and sister in a sibship of 3 and an affected son of the sister. Although no consanguinity had been established, Crawfurd et al. (1979) suggested that the affected female's husband was a carrier. The possibility of remote consanguinity was supported by the finding of another family with this very rare syndrome in a nearby town (Sarsfield, 1971). Noteworthy is the observation that the lens and cornea of Gillespie syndrome are clear, whereas congenital cataract and corneal opacities are relatively common among autosomal dominant aniridia patients (106210).
Lechtenberg and Ferreti (1981) reported a single case in an 18-month-old girl. This family was apparently nonconsanguineous, as was also the family reported by Wittig et al. (1988) in which 2 brothers in a sibship of 3 had the triad. All 3 sibs had cerebellar hypoplasia; the younger brother also had congenital pulmonic stenosis. Francois et al. (1984) reported a family with 2 affected sisters. Nevin and Lim (1990) described an isolated case.
Nelson et al. (1997) described 2 unrelated patients with Gillespie syndrome. The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. They considered the iris abnormality specific and pathognomonic for Gillespie syndrome. It can be distinguished clinically from other forms of aniridia and a presumptive diagnosis of Gillespie syndrome can be made in the first months of life on the basis of the ocular findings. On slit-lamp examination, the pupil border of the iris typically shows a scalloped 'festooned' edge with tufts of iris strands extending onto the anterior lens surface at regular intervals. Pupillary membrane remnants are frequently present, and the cornea and lens are typically clear. In 1 of the patients, Nelson et al. (1997) found cerebral and cerebellar atrophy with white matter changes on MRI scan, suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. The parents of this child were first cousins, thus supporting autosomal recessive inheritance. In addition to the family reported by Crawfurd et al. (1979) suggesting autosomal dominant inheritance, Nelson et al. (1997) called attention to the report of the syndrome in mother and daughter by Verhulst et al. (1993).
Dollfus et al. (1998) reported an 8-month-old girl with bilateral partial aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia, nystagmus, mild craniofacial asymmetry, axial hypotonia, developmental delay, and mild mental retardation; MRI revealed hypoplasia of the inferior cerebellar vermis, frontal cortical atrophy, and a thin corpus callosum. The authors suggested that these findings represented a Gillespie syndrome phenotype.
Donald et al. (2006) described 2 unrelated boys with Gillespie syndrome, both born of nonconsanguineous parents. One was an 8-year-old boy with the cognitive function of a 5-year-old, who had bilateral ptosis, aniridia, dysarthric speech, globally decreased tone, and a broad-based, unsteady gait. Slit-lamp examination revealed absence of the sphincter pupillae, with lack of the entire sheet of mesoderm, resulting in the collarette forming the papillary margin. Funduscopy was normal. CT scan in infancy and MRI at age 10 years showed cerebellar atrophy and anterior cerebral atrophy. The other boy was 4 years old and functioning at a 3-year-old level; he had a fine tremor, an ataxic gait, reduced tone that was more marked in the lower limbs, and mildly dysarthric speech. Ophthalmic examination revealed 'findings within the aniridia spectrum,' with a flat-looking iris and absence of structures from the collarette to pupil margin (absence of the sphincter pupillae); the fundi were normal. MRI and CT of the brain at age 2 years were normal. Neither boy had dysmorphic features, nystagmus, or involuntary movements.
Boughamoura et al. (2006) reported a sister and brother, born of consanguineous parents, who had congenital bilateral partial aniridia, cerebellar ataxia, and mental retardation. Brain MRI showed cerebellar atrophy in the girl and mild cortical and subcortical atrophy involving the subtentorial region and hypoplasia of the inferior vermis in the boy. Ophthalmologic examination of the boy revealed bilateral partial aniridia with peripheral tufting, iris strands on the anterior lens, and dysgenesis of the iridocorneal angle. The karyotype was normal in both children.
Luquetti et al. (2007) described an 8-year-old Brazilian girl, born of first-cousin parents, who had bilateral aniridia, hypotonia, ataxia, and mild mental retardation. Dysmorphic features included low anterior hairline, synophrys, downslanting palpebral fissures, anteverted nostrils, prognathism, high arched palate, and marked broad distal phalanges with hyperconvex nails in hands and feet. Ophthalmologic examination showed decreased visual acuity, incomplete formation of the iris with small strands in the direction of the lens consistent with a pupillary membrane, and normal fundi with no suggestion of foveal hypoplasia or optic atrophy. Brain MRIs at 6 months and 8 years of age were read as normal; single photon emission computed tomography (SPECT) of the CNS showed signals of cerebellar hypoperfusion. X-rays of the hands and feet revealed enlargement of soft tissues surrounding the distal phalanges but no bone alterations. She had a normal karyotype.
Defreyn et al. (2007) reported a 30-month-old girl, born of nonconsanguineous parents, who had bilateral iris hypoplasia, clear cornea and lens, normal intraocular pressure, and diffuse retinal hypopigmentation. She had mild psychomotor delay, axial hypotonia, and difficulties with balance. There were no dysmorphic features. Brain MRI at 18 months of age was normal.
Marien et al. (2008) performed a detailed neurocognitive investigation of a mother and daughter diagnosed with Gillespie syndrome, originally reported by Verhulst et al. (1993), and found that both had marked asymmetry in their IQ profiles, with significantly better results on the verbal than nonverbal testing; they also displayed a pattern of behavioral and cognitive abnormalities that closely resembled the cerebellar cognitive and affective syndrome. Ophthalmic examination revealed 'bilaterally underdeveloped iris' in the mother and 'widely dilated pupils' that were nonreactive in the daughter; funduscopy was normal in both. Brain MRI showed cerebellar hypoplasia, particularly of the vermis, in both patients.
Gerber et al. (2016) studied 5 unrelated patients with Gillespie syndrome, including a 16-year-old Brazilian girl who was originally described by Luquetti et al. (2007). All presented at birth or within the first few months of life with hypotonia and iris hypoplasia (bilateral partial aniridia). Cerebellar signs included nystagmus, ataxia, slurred speech, and general hypotonia; in addition, 3 patients had mild to moderate intellectual disability, 1 was reported to have normal intelligence, and 1 was too young to evaluate. MRI findings in the first several months of life were unremarkable, but later imaging studies revealed marked cerebellar atrophy.
### Clinical Variability
Van Dijk et al. (2017) reported a 6-year-old girl with a phenotype consistent with Gillespie syndrome. She presented with poor head control, hypotonia, and delayed psychomotor development in the first 6 months of life. She had severe truncal titubation with limb ataxia and brisk reflexes. However, there were no ocular abnormalities aside from strabismus. Brain imaging showed nonprogressive, but severe, pontine and cerebellar hypoplasia. The inferior vermis was almost absent and the superior vermis was hypoplastic with superimposed atrophy. At age 4, she could sit and stand with support and eat by herself, but could only speak single words. Exome sequencing identified a de novo heterozygous missense mutation in the ITPR1 gene (I2550N; 147265.0014) affecting the transmembrane domain of the protein, similar to mutations identified in other patients with Gillespie syndrome. Functional studies of the variant and studies of patient cells were not performed. Van Dijk et al. (2017) noted that the phenotype in this child expanded the spectrum of ataxias associated with mutations in the ITPR1 gene.
Inheritance
Families with apparent autosomal recessive inheritance of Gillespie syndrome have been reported (Gillespie, 1965; Wittig et al., 1988; Nelson et al., 1997); however, instances of autosomal dominant transmission have also been reported (Verhulst et al., 1993).
Cytogenetics
In an 8-month-old girl with features consistent with Gillespie syndrome, Dollfus et al. (1998) found a de novo balanced translocation t(X;11)(p22.32;p12). FISH studies showed that the PAX6 gene (607108), mutations in which have been identified in patients with aniridia, is distal to the breakpoints on chromosome 11p; no mutations or microdeletions were detected by SSCP or direct sequencing of PAX6. The authors stated that these findings suggested that PAX6 is not directly involved in their patient's phenotype, but that a positional effect of the translocation on the PAX6 gene could not be excluded. Kim et al. (2012) noted that the translocation in this patient disrupted the PHF21A gene (608325) on chromosome 11 and the ARHGAP6 gene (300118) on the X chromosome. Kim et al. (2012) included this patient in a study demonstrating that translocations disrupting PHF21A result in intellectual disability and craniofacial anomalies, features of Potocki-Shaffer syndrome (601224).
Molecular Genetics
In a 4.5-year-old Tunisian girl with Gillespie syndrome, who was negative for variation in the PAX6 gene (607108), Gerber et al. (2016) performed exome sequencing and identified homozygosity for a nonsense mutation in the ITPR1 gene (Q1558X; 607108.0005) that was present in heterozygosity in her unaffected consanguineous parents. Analysis of ITPR1 in 4 more probands with Gillespie syndrome revealed homozygosity for another nonsense mutation (R728X; 607108.0006) in an 8-year-old Brazilian girl previously reported by Luquetti et al. (2007), and compound heterozygosity for 2 splice site mutations (607108.0007-607108.0008) in a 7.5-year-old French girl. The remaining 2 patients carried de novo heterozygous mutations in ITPR1: the first was an 18-year-old French woman with an in-frame 3-bp deletion (K2569del; 607108.0009), and the second was a 1.5-year-old girl from the French Caribbean island of La Guadeloupe, who had a missense mutation (F2553L; 607108.0010) that was not found in her consanguineous parents. All 5 patients exhibited similar iris anomalies and neonatal ataxia with progressive cerebellar atrophy; however, the 3 patients with biallelic mutations had moderate to severe intellectual disabilities, whereas the 18-year-old heterozygote was reported to have normal intelligence. However, the latter patient was also studied by McEntagart et al., 2016 and designated as having 'mild' intellectual disability. The other heterozygous patient was too young to be evaluated at age 18 months. Ophthalmologic examination of the heterozygous parents from the Tunisian and French families, which included gonioscopy and funduscopy, revealed no abnormalities. Gerber et al. (2016) concluded that their findings demonstrated the long-suspected coexistence of autosomal recessive and autosomal dominant patterns of inheritance in Gillespie syndrome.
### Exclusion Studies
Ticho et al. (2006) and Graziano et al. (2007) reported patients with phenotypes suggesting Gillespie syndrome (see 106200) who had mutations in the PAX6 gene (607108). Using single-strand conformation polymorphism (SSCP) analysis in affected individuals from 3 families with Gillespie syndrome, 1 of which had previously been reported by Crawfurd et al. (1979), Glaser et al. (1994) found no alteration of PAX6 sequences. In 2 families, the disease traits segregated independently from 11p markers flanking PAX6.
In a 30-month-old girl diagnosed with Gillespie syndrome, Defreyn et al. (2007) analyzed the PAX6 and PITX2 (601542) genes using PCR and DHPLC but found no mutations.
In a mother and daughter diagnosed with Gillespie syndrome, who had features consistent with cerebellar cognitive affective syndrome rather than global mental retardation, Marien et al. (2008) performed molecular studies, including Southern blot analysis and PCR, that did not demonstrate any rearrangements on chromosome 11 but did not exclude point mutations in the PAX6 gene.
INHERITANCE \- Autosomal dominant \- Autosomal recessive (in some patients) HEAD & NECK Eyes \- Iris hypoplasia \- Scalloped pupillary margins of iris \- Nystagmus \- Visual impairment, mild to moderate NEUROLOGIC Central Nervous System \- General hypotonia \- Delayed motor development \- Ataxia \- Postural tremor \- Slurred speech \- Mental retardation, mild to severe \- Cerebellar hypoplasia/atrophy MISCELLANEOUS \- Three patients with homozygous or compound heterozygous mutations have been reported (last curated June 2016) MOLECULAR BASIS \- Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (ITPR1, 147265.0005 ) ▲ 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
|
GILLESPIE SYNDROME
|
c0431401
| 25,465 |
omim
|
https://www.omim.org/entry/206700
| 2019-09-22T16:30:58 |
{"mesh": ["C536370"], "omim": ["206700"], "orphanet": ["1065"], "synonyms": ["Alternative titles", "ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION"]}
|
An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Minimal pigment oculocutaneous albinism type 1
|
None
| 25,466 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352734
| 2021-01-23T18:28:01 |
{"icd-10": ["E70.3"], "synonyms": ["MP OCA type 1", "OCA1-MP"]}
|
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.
## Epidemiology
It represents about 10% of solid tumors in infants and children under the age of 15, with an annual incidence of about 1/70,000 in children in this class of age.
## Clinical description
In 90% of cases the neuroblastoma is diagnosed before the age of five. The clinical presentation of neuroblastoma is very variable and depends on the stage and location of the tumor, which can develop at any site in the sympathetic nervous system (around 80% of cases develop in the abdomen). Localized forms are discovered fortuitously or are revealed by the presence of an abdominal or thoracic mass that can be associated with pain. At the time of diagnosis, metastatic forms represent about 50% of cases. The most frequent metastatic sites are bone marrow, bone, liver and skin. Symptoms of metastasis including bone pain, limp, paralysis, hepatomegaly (Pepper's syndrome), and exophthalmia (Hutchinson's syndrome), indicate metastatic neuroblastoma. The disease can also be associated with arterial hypertension, fever, and an altered general state (weight loss, pain, irritability, and anemia).
## Etiology
Neuroblastoma has been linked to numerous genetic anomalies which affect prognosis: amplification of the oncogene MYCN (2p24.3) is a factor for poor prognosis; triploidy, numerical anomalies of chromosomes are associated with a good prognosis, while di- or tetraploidy and segmental chromosomal anomalies (including loss from 1p, from 11q, or gains of 17q) are associated with poor prognosis. Recently, a mutation of the ALK gene has been described in about 12% of cases.
## Diagnostic methods
Diagnosis is based on evidence of an elevated level of metabolites of urinary catecholamines (VMA, HVA, and dopamine) and on an image of the initial tumor by ultrasound and brain scan or by MRI. MIBG (iodine-131-meta-iodobenzylguanidine) scintigraphy and medullary analysis are useful for finding metastases. Tumor biopsy confirms the diagnosis, allows histological classification and helps find amplification of MYCN.
## Differential diagnosis
Differential diagnoses include nephroblastoma, which makes it necessary to systematically check urinary catecholamines in case of an abdominal tumor. Bone pain and limp can be interpreted as synovitis of the hip. Possible bilateral peri-orbital hematomas, caused by orbital metastases, should not lead to a diagnosis of maltreatment.
## Antenatal diagnosis
Neuroblastoma can be identified using antenatal ultrasound and therefore adequate management after the birth can be provided.
## Management and treatment
Localized forms of neuroblastoma are treated by surgical resection, sometimes preceded by chemotherapy. Treatment of metastatic forms in children of more than one year and forms with amplification of MYCN is by: conventional chemotherapy, surgery of the initial tumor, high dose chemotherapy with hematopoietic stem cell transplantation, local radiotherapy and maintenance therapy with retinoic acid.
## Prognosis
The majority of localized tumors have an excellent prognosis after surgery. Children under one year have a better prognosis than older children. Some tumors may even show spontaneous regression. In contrast, approximately 60% of children older than one year with neuroblastoma present metastatic disease at diagnosis with poor outcome, even with intensive treatment. In children older than one year, the five-year survival rate varies between 95% for some localized tumors to 30% in cases of metastatic neuroblastoma.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Neuroblastoma
|
c0027819
| 25,467 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=635
| 2021-01-23T18:14:05 |
{"gard": ["7185"], "mesh": ["C536408", "D009447"], "omim": ["256700", "613013", "613014", "613015", "613016", "613017", "616792"], "umls": ["C0027819", "C2931189"], "icd-10": ["C74.9"]}
|
A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also 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
|
Primary intrahepatic lithiasis
|
None
| 25,468 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480506
| 2021-01-23T17:07:43 |
{"synonyms": ["PIHL", "Primary hepatolithiasis"]}
|
Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands (adrenal cortex). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands.
Adrenocortical carcinoma may develop by chance alone, but at least 50% of the cancers are thought to be hereditary. There are a number of genes that have changes (mutations) that can cause an adrenocortical carcinoma, including TP53 and IGF2. There have been reports of both autosomal dominant inheritance and autosomal recessive inheritance.
An adrenocortical carcinoma is diagnosed based on urine tests for abnormal levels of cortisol, the hormone released by the adrenal glands. Blood tests can also be conducted to measure levels of potassium and sodium in the blood. A CT scan or MRI may be used to search for a visible tumor in the adrenal cortex. Treatment options include surgical removal of the tumor, which is important to achieve a good long-term outlook. Chemotherapy, specifically a drug called mitotane, can be used to try to remove any remaining cancer after 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
|
Adrenocortical carcinoma
|
c0206686
| 25,469 |
gard
|
https://rarediseases.info.nih.gov/diseases/558/adrenocortical-carcinoma
| 2021-01-18T18:02:15 |
{"mesh": ["D018268"], "omim": ["202300"], "orphanet": ["1501"], "synonyms": ["ACC"]}
|
A number sign (#) is used with this entry because of evidence that this form of 46,XY sex reversal is caused by heterozygous mutation in the MAP3K1 gene (600982) on chromosome 5q11.
For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).
Clinical Features
Sternberg et al. (1968) reported 3 cases of 46,XY females, each in a different sibship of a family connected through normal females (proposita, maternal cousin, and maternal aunt).
Espiner et al. (1970) studied a New Zealand kindred of European descent in which 5 phenotypic females from 3 sibships had a normal XY karyotype in all stem lines examined and pure gonadal dysgenesis, with bilateral streak gonads verified at laparotomy. The proband presented at 21 years of age because she was still growing, and had grown 1.9 cm in height over the past 6 months. She had undergone pubertal changes, including some breast development and growth of pubic and axillary hair, between age 14 and 16 years; menarche occurred at age 15 years, with 4 apparently normal menstrual periods, which then ceased. At age 21 years, her physical appearance was eunuchoidal, with sparse pubic and axillary hair; both phenotype and gender role were entirely feminine, and she had normal female external genitalia and normal uterine cervix by palpation. The remainder of the examination was normal, with no neck webbing, cubitus valgus, or other congenital anomaly. Laparotomy revealed a hypoplastic uterus from which apparently normal fallopian tubes extended laterally, with gonadal streaks seen on the posterior aspect of the broad ligaments. Microscopic examination of the fallopian tubes was normal, but multiple sections of the gonadal streaks showed fibrous connective tissue arranged in whorls resembling ovarian stroma. Some vestigial epithelial elements, assumed to be rete tubules, were also seen, but no germ cells could be identified and Leydig cells were sparse. The proband had 2 similarly affected older sisters, who were also evaluated and found to be 46,XY with streak gonads at laparotomy. In addition, she had 2 apparently unaffected older sisters who had borne children: buccal smears from a phenotypic daughter of each of them revealed an XY karyotype, and laparotomy at puberty showed streak gonads in both cases. Espiner et al. (1970) stated that these familial cases, with occurrence over 2 generations, could not be due to loss of male determinants on the Y chromosome (see 400044), but rather, like the cases reported by Sternberg et al. (1968), were consistent with the effects of a single gene located on an autosome or on the X chromosome.
Espiner et al. (1970) emphasized that the affected persons were unusually tall for females. The height of patients with XY gonadal dysgenesis (unusually great for females) is probably explained by androgen production in the streak gonad (Rose et al., 1974). Clitoromegaly is present in some cases.
Le Caignec et al. (2003) described 46,XY gonadal dysgenesis in a large French kindred with various disorders of sexual development, ranging from complete female phenotype without ambiguity of the external genitalia (5 cases) to men with isolated penile or perineal hypospadias (4 cases), including 2 cases with moderate virilization and 1 case with ambiguity of the external genitalia. Histologic examination in 7 subjects yielded findings suggestive of complete gonadal dysgenesis in 1 patient, partial gonadal dysgenesis in 3 patients, and mixed gonadal dysgenesis in 3 patients. Four patients developed gonadal tumors: 2 had gonadoblastoma, 2 had dysgerminoma, and 1 had an immature teratoma, i.e., a dysgerminoma with some areas of gonadoblastoma. None of the affected subjects had other congenital anomalies or dysmorphic features. Previously reported families had implied an X-linked mode of inheritance because of the apparent absence of male-to-male transmission; however, a sex-limited autosomal dominant mode of inheritance affecting only XY individuals could not be ruled out. Analysis of the pedigree reported by Le Caignec et al. (2003) indicated an autosomal dominant mode of inheritance because of male-to-male transmission. Le Caignec et al. (2003) concluded that this family supports the involvement of at least 1 autosomal gene in nonsyndromic 46,XY gonadal dysgenesis.
Mapping
Jawaheer et al. (2003) performed a linkage study in the French family with 46,XY gonadal dysgenesis reported by Le Caignec et al. (2003) and demonstrated by multipoint parametric analysis a lod score of 4.47, assuming sex-limited autosomal dominant inheritance with a penetrance of 0.6, for the pericentromeric region of chromosome 5 at approximately 65 cM (57 Mb) from the end of chromosome 5p. The obligatory carrier females in the kindred showed no abnormality. Jawaheer et al. (2003) concluded that the pattern of inheritance was probably more complicated than simple monogenic diseases, because 3 individuals shared the core haplotype, but did not have obvious clinical abnormalities. They proposed that in 46,XY carriers the mutant gene is highly penetrant but can be modified by a second locus. Among unaffected individuals, the associated phenotypes range from mild hypospadias without impairment of fertility to partial, or even pure, gonadal dysgenesis. In this family, a male affected with hypospadias and chordee had 2 offspring: 1 with perineal hypospadias and chordee and the other with partial gonadal dysgenesis.
Pearlman et al. (2010) performed linkage analysis in the New Zealand family with 46,XY gonadal dysgenesis, originally reported by Espiner et al. (1970), and obtained a maximal lod score of 1.14 at D5S2068. The combined lod score for this family and the French family with 46,XY gonadal dysgenesis, originally reported by Le Caignec et al. (2003), was 4.62 at D5S398; the multipoint lod score was 6.21. Recombination analysis defined a 5-Mb critical interval between D5S1969 and D5S2028.
Molecular Genetics
In the French family with 46,XY gonadal dysgenesis mapping to chromosome 5q, originally reported by Le Caignec et al. (2003), Pearlman et al. (2010) analyzed the MAP3K1 gene and identified a heterozygous splice site mutation that segregated with disease in the family (600982.0001). Sequence analysis of MAP3K1 in the New Zealand family with 46,XY gonadal dysgenesis, originally reported by Espiner et al. (1970), identified a MAP3K1 missense mutation (600982.0002). Screening of the MAP3K1 gene in 11 sporadic cases revealed 2 more missense mutations in 2 patients (600982.0003 and 600982.0004, respectively).
Granados et al. (2017) studied 7 46,XY females with complete or partial gonadal dysgenesis from 4 unrelated families and identified heterozygosity for mutations in the MAP3K1 gene in all affected individuals (see, e.g., 600982.0005 and 600982.0006). All patients underwent gonadectomy, and a premalignant change was found in 1. The authors noted that these 4 families with MAP3K1 mutations represented 28% of their patient population with a diagnosis of complete or partial gonadal dysgenesis.
INHERITANCE \- Autosomal dominant GROWTH Height \- Increased height in females GENITOURINARY External Genitalia (Male) \- Hypospadias, penile \- Hypospadias, perineal \- Chordee \- Ambiguous male external genitalia (rare) External Genitalia (Female) \- Normal-appearing female external genitalia \- Clitoromegaly (rare) Internal Genitalia (Male) \- Dysgenetic testes Internal Genitalia (Female) \- Streak ovaries \- Uterus hypoplastic to normal \- Fallopian tubes normal SKIN, NAILS, & HAIR Hair \- Sparse axillary and pubic hair \- Hirsutism (rare) NEOPLASIA \- Gonadoblastoma \- Dysgerminoma MISCELLANEOUS \- 46,XX carriers are unaffected MOLECULAR BASIS \- Caused by mutation in the mitogen-activated kinase kinase kinase 1 gene (MAP3K1, 600982.0001 ) ▲ 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
|
46,XY SEX REVERSAL 6
|
c2936694
| 25,470 |
omim
|
https://www.omim.org/entry/613762
| 2019-09-22T15:57:34 |
{"doid": ["14448"], "mesh": ["D006061"], "omim": ["613762"], "orphanet": ["242", "251510"], "synonyms": ["Alternative titles", "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED", "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED"], "genereviews": ["NBK1547"]}
|
## Description
Ankyloglossia, commonly known as 'tongue-tie,' is a congenital anomaly that occurs predominantly in males and is characterized by an abnormally short lingual frenulum. The phenotype varies from absence of clinical significance to rare complete ankyloglossia where the ventral part of the tongue is fused to the floor of the mouth (Klockars, 2007). Some patients also exhibit absence of lower incisors (Acevedo et al., 2010).
Clinical Features
Klockars (2007) described a 4-generation Finnish family with isolated ankyloglossia segregating as an autosomal dominant trait. Three brothers, their father, and paternal uncle had thickened and shortened frenula that restricted tongue movement, resulting in speech difficulties with producing certain consonants. Four patients underwent frenuloplasty, but the youngest sib had only mild ankyloglossia without feeding problems, and speech was difficult to evaluate due to his age. Family history indicated that the father had 2 affected male cousins, and his paternal grandmother was also reported to have had speech problems and restricted tongue movement. His father was said to have normal speech and tongue movement; however, the authors noted that the latter individual could have been mildly affected and asymptomatic.
Acevedo et al. (2010) reported a large Brazilian family segregating ankyloglossia and tooth anomalies over 3 generations. All 8 affected family members had hypertrophy of both the lingual and lower labial frenula, and 6 also exhibited hypodontia with absence of 2 to 4 lower incisors. Two of those with hypodontia also had a supernumerary tooth in the mandibular dentition. X-rays of the proband confirmed agenesis of the lower anterior teeth corresponding to the region of the lingual frenulum malformation. Examination of the proband's mother revealed ischemia of the central region of the tongue when protruded, and the proband's brother had labial commissure pits. The authors stated that this was the first report of familial ankyloglossia associated with tooth number anomalies.
Devasya and Sarpangala (2017) reported an Indian family in which a mother and 4 children had ankyloglossia.
Lenormand et al. (2018) studied a 5-generation French family in which 10 members exhibited ankyloglossia and missing central lower incisors, involving agenesis of all 4 permanent mandibular incisors in most patients. The authors noted that these patients often presented with dental loss due to dental decay and parodontopathy; however, no other dental agenesis was observed. Congenital anorectal malformations also were observed in the proband and her father (anterior ectopic anus and imperforate anus, respectively). The authors suggested that ankyloglossia could be considered to represent the abnormal persistence of the lingual frenulum due to insufficient apoptosis, and that anorectal malformations might also be due to abnormally low levels of apoptosis during cloacal development.
Inheritance
Keizer (1952) described a Dutch family in which 13 persons in 3 generations had ankyloglossia. There were many instances of male-to-male transmission, consistent with autosomal dominant inheritance.
Klockars (2007) reported a 4-generation Finnish family in which ankyloglossia appeared to be inherited as an autosomal dominant trait with incomplete penetrance.
Using a population-based questionnaire of 166 Finnish patients with ankyloglossia, including 106 males and 60 females, Klockars and Pitkaranta (2009) found that 41.0% (68/166) reported a first-degree relative, 7.3% (12/166) a second-degree relative, 4.2% (7/166) a third-degree relative, and 0.6% (1/166) other relatives with the disorder. About 47% (78/166) reported no relatives with tongue-tie. Of the patients with a first-degree relative with ankyloglossia, 45.6% (31/68) were female and 54.4% (37/68) male. Of the patients with no relatives with ankyloglossia, 25.6% (20/78) were female and 74.4% (58/78) male. The overall male-to-female ratio was 2.2:1.0, but there was a significant male predominance among patients with no family history. Klockars and Pitkaranta (2009) noted that among familial cases, a mutation on the X chromosome could potentially cause the disorder in hemizygous males and only in homozygous females.
Population Genetics
Ankyloglossia has a prevalence of about 4% in the newborn population (Klockars and Pitkaranta, 2009).
Molecular Genetics
### Exclusion Studies
In a large Brazilian family segregating ankyloglossia and tooth anomalies over 3 generations, Acevedo et al. (2010) sequenced the coding region of candidate gene LGR5 (606667) but did not detect any mutations.
In a 5-generation French family in which 10 members exhibited ankyloglossia and missing central lower incisors, Lenormand et al. (2018) excluded mutations in the TBX22 (300307) and LGR5 genes on the basis of mode of inheritance and by linkage analysis.
INHERITANCE \- Autosomal dominant HEAD & NECK Mouth \- Hypertrophic lingual frenulum \- Shortened lingual frenulum \- Hypertrophic lower labial frenulum (in some patients) \- Labial commissure pits (rare) Teeth \- Missing lower incisors (in some patients) \- Supernumerary tooth (rare) MISCELLANEOUS \- Anorectal anomalies have been reported in 2 affected individuals from 1 family ▲ 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
|
ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES
|
c0152415
| 25,471 |
omim
|
https://www.omim.org/entry/106280
| 2019-09-22T16:45:00 |
{"doid": ["0060604"], "mesh": ["D000072676"], "omim": ["106280"], "icd-9": ["750.0"], "icd-10": ["Q38.1"], "synonyms": ["Alternative titles", "ANKYLOGLOSSIA", "'TONGUE-TIE'"]}
|
Yunis–Varon syndrome
Other namesCleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia
Yunis–Varon syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia,[1][2] is an extremely rare[3] autosomal recessive[4] multisystem congenital disorder[5] which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was first described by Emilio Yunis and Humberto Váron from the National University of Colombia.
## Contents
* 1 Genetics
* 1.1 Animal model
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Skeletal
* 3.2 Neurologic
* 3.3 Facial
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Genetics[edit]
This syndrome is inherited in an autosomal recessive manner.[4][6] Several mutations in the FIG4-encoding gene were found to cause Yunis–Varon syndrome. Some of these mutations result in complete loss of protein function; others involve amino-acid replacements at highly conserved residues. Not all mutations in the FIG4 gene result Yunis–Varon syndrome. Some mutations lead to various forms of Charcot–Marie–Tooth disease, Amyotrophic lateral sclerosis 11, and bilateral temporooccipital polymicrogyria.[7][8][9][10]
Patients affected with Yunis–Varon syndrome are homozygous, compound homozygous, or compound heterozygous for deleterious mutations in FIG4.[11][12][13][14][15][16][excessive citations]
### Animal model[edit]
Spongiform degeneration of mouse brains caused by altering PI3P to PI(3,5)P2 conversion is associated with human Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS) by accumulation of Lc3II, p62, and LAMP2 proteins, which also contributes to inclusion body disease.[17] Manipulation of this signaling lipid involves culturing fibroblasts obtained by insertion of ETn2-beta(early transposon 2-beta) into intron 18 of FIG4 gene in vacuolar membrane of mice labeled pale tremor (plt). These fibroblasts fill with immunoreactive large vacuoles; but more importantly their abnormal concentration of PI(3,5)P2 demonstrates conserved function of mammalian FIG4 and late endosome-lysosome axis failure responsible for lack of apoptosis of neurons and Schwann cells (but large motor axons are still lost while demyelination still happens).[18][19][20] In contrast, homozygous FIG4 defective (FIG4-/-) mice have a reduction of myelin, especially in optic nerves; but this detriment is rescued by an overexpression of human FIG4 I41T at low-level function.[21] While FIG4-null adult mice have macroscopically normal brains with increments in apoptosis and neuronal density with delayed cell maturation, neonatal mice maintain all neurologic defects.[22][23] FIG4 expression in mouse brain cells is also comparable to that of calvaria, osteoblasts, and bone marrow cells.[24]
## Pathophysiology[edit]
The mechanism of mutation in FIG4 causing Yunis–Varon syndrome involves altering conversion of phosphatidylinositol 3-phosphate (PI3P) to signaling lipid phosphatidylinositol 3,5-bisphosphate(PI(3,5)P2). Because this conversion in endosomal membranes changes dynamically with fission and fusion events to create/absorb intracellular transport vesicles, enlarged cytoplasmic vacuoles have been found in patient neurons, muscle, and cartilage.[25][26] These have been identified as intracytoplasmic vacuoles(fluid sacs inside cellular cytoplasm) causing excessive build-up of vacuolated macrophages in bone marrow and pericardial fluid in the heart.[27][28] Fluids may also accumulate in a choroid spaces under the retina, causing central serous retinopathy or chorioretinopathy and possibly vision loss.[29] Paradoxically, overexpression of FIG4 does not yield obvious morphologic phenotype of these fluids accumulating, but alters PI(3,5)P2 levels making cells prone to expansion through dilation of intracellular membranes. Under expression, on the other hand, enhances endosome carrier and formation of vesicles/multivesicular bodies.[30] Central nervous system dysfunction and extensive skeletal anomalies suggest a role for Phosphatidylinositol 3,5-bisphosphate, or PI(3,5)P2, signaling in skeletal development and maintenance.[31]
## Diagnosis[edit]
Features of Yunis–Varon syndrome include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features.[3][32][33] Additional symptoms may include abnormalities of the fingers and/or toes including missing nails/fingers.[32][34] In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects. Osteodysplasties or bone abnormalities may be severe enough to become fatal in as little as 10 weeks of age, making lethality extremely common during infancy.[35][36]
### Skeletal[edit]
Defects include cleidocranial dysplasia as abnormal bone development through hypoplastic (absent) clavicles, induced macrocrania (abnormal increase of skull), and diastasis (separation) of sutures.[37] Yunis–Varon syndrome also causes digital anomalies as most patients show aplasia (absence) of thumbs as well as distal phalanges or hypoplasia (underdevelopment) of proximal phalanx with absence and/or agenesis of halluces' (big toes') distal phalanxes sometimes with absent.[38][39][40] Pelvic dysplasia may also be present, causing hips to be retracted and delineated through bilateral dislocation. These deformities in addition to microcephaly and reduced ossification from the disease might be partially due to the affected individual's under-mineralized skeleton.[37][41]
### Neurologic[edit]
Intraneural inclusions (bodies within neural cells) with vacuolar degeneration are prominent mostly in the patient's thalamic nuclei, dentante nuclei, cerebellar cortex, and inferior olivary nuclei.[42] Hypoplasia of frontal lobes, corpus callosum, cerebellar vermis connecting the two brain hemispheres along with polymicrogyria causing excessive folding leading to an abnormally thick cortex are also phenotypes of this disorder.[43]
### Facial[edit]
Obvious signs of Yunis–Varon syndrome include soft and large fontanelles, high forehead, prominent eyes, large ears with hypoplastic lobes, low nasal bridge, anteverted nostrils, short philtrum above the lip, high-arched palate at the roof of mouth, micrognathia or small jaw, and sparse hair (Hypotrichosis) with absent eyebrows and eyelashes.[44][41][45]
## Treatment[edit]
Early intervention is considered important. For infants, breathing and feeding difficulties, are monitored. Therapies used are "symptomatic and supportive."[46]
## Epidemiology[edit]
Yunis–Varon syndrome has been described relatively recently in the 1980s and since then less than 15 cases have been reported around the world. Many of the infants did not survive beyond one year of age.[34][6]
## References[edit]
1. ^ Online Mendelian Inheritance in Man (OMIM): 216340
2. ^ Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, et al. (April 2006). "Yunis Varon syndrome" (PDF). Indian Journal of Pediatrics. 73 (4): 353–5. doi:10.1007/BF02825832. PMID 16816498. S2CID 21944556.
3. ^ a b Christie J, Sacks S, Decorato D, Bergasa NV (September 1999). "Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome". Journal of Clinical Gastroenterology. 29 (2): 210–1. doi:10.1097/00004836-199909000-00025. PMID 10478891.
4. ^ a b Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P (February 2008). "Yunis-Varon syndrome: further delineation of the phenotype". American Journal of Medical Genetics. Part A. 146A (4): 532–7. doi:10.1002/ajmg.a.32135. PMID 18203163. S2CID 26679823.
5. ^ Yunis Varon Syndrome
6. ^ a b Yunis E, Varón H (July 1980). "Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome" (Free full text). American Journal of Diseases of Children. 134 (7): 649–53. doi:10.1001/archpedi.1980.02130190017005. PMID 7395825.
7. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
8. ^ Lenk, Guy M.; Ferguson, Cole J.; Chow, Clement Y.; Jin, Natsuko; Jones, Julie M.; Grant, Adrienne E.; Zolov, Sergey N.; Winters, Jesse J.; Giger, Roman J.; Dowling, James J.; Weisman, Lois S. (June 2011). "Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J". PLOS Genetics. 7 (6): e1002104. doi:10.1371/journal.pgen.1002104. ISSN 1553-7404. PMC 3107197. PMID 21655088.
9. ^ Chow, Clement Y.; Landers, John E.; Bergren, Sarah K.; Sapp, Peter C.; Grant, Adrienne E.; Jones, Julie M.; Everett, Lesley; Lenk, Guy M.; McKenna-Yasek, Diane M.; Weisman, Lois S.; Figlewicz, Denise (January 2009). "Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS". American Journal of Human Genetics. 84 (1): 85–88. doi:10.1016/j.ajhg.2008.12.010. ISSN 1537-6605. PMC 2668033. PMID 19118816.
10. ^ Ouled Amar Ben Cheikh, Bouchra; Baulac, Stéphanie; Lahjouji, Fatiha; Bouhouche, Ahmed; Couarch, Philippe; Khalili, Naima; Regragui, Wafae; Lehericy, Stéphane; Ruberg, Merle; Benomar, Ali; Heath, Simon (2008-08-29). "A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22". Neurogenetics. 10 (1): 35–42. doi:10.1007/s10048-008-0143-3. ISSN 1364-6745. PMID 18758830. S2CID 43539025.
11. ^ Garrett C, Berry AC, Simpson RH, Hall CM (February 1990). "Yunis-Varon syndrome with severe osteodysplasty". Journal of Medical Genetics. 27 (2): 114–21. doi:10.1136/jmg.27.2.114. PMC 1016932. PMID 2319578.
12. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
13. ^ Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. PMID 20932945.
14. ^ Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, et al. (September 1995). "Generalized lysosomal storage in Yunis Varón syndrome". Neuromuscular Disorders. 5 (5): 423–8. doi:10.1016/0960-8966(94)00089-r. PMID 7496176. S2CID 30559290.
15. ^ Campeau, Philippe M.; Lenk, Guy M.; Lu, James T.; Bae, Yangjin; Burrage, Lindsay; Turnpenny, Peter; Román Corona-Rivera, Jorge; Morandi, Lucia; Mora, Marina; Reutter, Heiko; Vulto-van Silfhout, Anneke T. (2013-05-02). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–791. doi:10.1016/j.ajhg.2013.03.020. ISSN 1537-6605. PMC 3644641. PMID 23623387.
16. ^ Corona-Rivera, J. Román; Romo-Huerta, Carmen O.; López-Marure, Eloy; Ramos, Feliciano J.; Estrada-Padilla, Sara A.; Zepeda-Romero, Luz Consuelo (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. ISSN 1878-0849. PMID 20932945.
17. ^ Ferguson CJ, Lenk GM, Meisler MH (December 2009). "Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2". Human Molecular Genetics. 18 (24): 4868–78. doi:10.1093/hmg/ddp460. PMC 2778378. PMID 19793721.
18. ^ Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, et al. (July 2007). "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J". Nature. 448 (7149): 68–72. Bibcode:2007Natur.448...68C. doi:10.1038/nature05876. PMC 2271033. PMID 17572665.
19. ^ Sharma S, Carmona A, Skowronek A, Yu F, Collins MO, Naik S, et al. (July 2019). "Apoptotic signalling targets the post-endocytic sorting machinery of the death receptor Fas/CD95". Nature Communications. 10 (1): 3105. Bibcode:2019NatCo..10.3105S. doi:10.1038/s41467-019-11025-y. PMC 6629679. PMID 31308371.
20. ^ Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J (August 2008). "Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration". Brain. 131 (Pt 8): 1990–2001. doi:10.1093/brain/awn114. PMC 2724900. PMID 18556664.
21. ^ Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ (November 2011). "Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4". The Journal of Neuroscience. 31 (48): 17736–51. doi:10.1523/JNEUROSCI.1482-11.2011. PMC 3711465. PMID 22131434.
22. ^ Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, et al. (March 2014). "Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria". Neurology. 82 (12): 1068–75. doi:10.1212/WNL.0000000000000241. PMC 3962989. PMID 24598713.
23. ^ Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, et al. (July 2018). "Protective role of the lipid phosphatase Fig4 in the adult nervous system". Human Molecular Genetics. 27 (14): 2443–2453. doi:10.1093/hmg/ddy145. PMC 6030899. PMID 29688489.
24. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
25. ^ Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A (August 2007). "Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex". The Journal of Biological Chemistry. 282 (33): 23878–91. doi:10.1074/jbc.M611678200. PMID 17556371.
26. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
27. ^ Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, et al. (November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2): 157–60. doi:10.1002/1096-8628(20001113)95:2<157::AID-AJMG12>3.0.CO;2-E. PMID 11078567.
28. ^ Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P (February 2008). "Yunis-Varon syndrome: further delineation of the phenotype". American Journal of Medical Genetics. Part A. 146A (4): 532–7. doi:10.1002/ajmg.a.32135. PMID 18203163. S2CID 26679823.
29. ^ Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. PMID 20932945.
30. ^ Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A (August 2007). "Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex". The Journal of Biological Chemistry. 282 (33): 23878–91. doi:10.1074/jbc.M611678200. PMID 17556371.
31. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
32. ^ a b "Yunis-Varon syndrome". Disease Information from NORD, National Organization for Rare Disorders, Inc.
33. ^ Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. PMID 20932945.
34. ^ a b Bhatia S, Holla RG (April 2005). "Yunis-Varon syndrome" (PDF). Indian Pediatrics. 42 (4): 373–5. PMID 15876600.
35. ^ Garrett C, Berry AC, Simpson RH, Hall CM (February 1990). "Yunis-Varon syndrome with severe osteodysplasty". Journal of Medical Genetics. 27 (2): 114–21. doi:10.1136/jmg.27.2.114. PMC 1016932. PMID 2319578.
36. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
37. ^ a b Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, et al. (November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2): 157–60. doi:10.1002/1096-8628(20001113)95:2<157::AID-AJMG12>3.0.CO;2-E. PMID 11078567.
38. ^ Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. (May 2013). "Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase". American Journal of Human Genetics. 92 (5): 781–91. doi:10.1016/j.ajhg.2013.03.020. PMC 3644641. PMID 23623387.
39. ^ Pfeiffer RA, Diekmann L, Stock HJ (1988). "Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation". Annales de Génétique. 31 (4): 241–3. PMID 3265308.
40. ^ Adès LC, Morris LL, Richardson M, Pearson C, Haan EA (September 1993). "Congenital heart malformation in Yunis-Varón syndrome". Journal of Medical Genetics. 30 (9): 788–92. doi:10.1136/jmg.30.9.788. PMC 1016540. PMID 8411078.
41. ^ a b Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P (February 2008). "Yunis-Varon syndrome: further delineation of the phenotype". American Journal of Medical Genetics. Part A. 146A (4): 532–7. doi:10.1002/ajmg.a.32135. PMID 18203163. S2CID 26679823.
42. ^ Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, et al. (November 2000). "Yunis-Varon syndrome: evidence for a lysosomal storage disease". American Journal of Medical Genetics. 95 (2): 157–60. doi:10.1002/1096-8628(20001113)95:2<157::AID-AJMG12>3.0.CO;2-E. PMID 11078567.
43. ^ Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. PMID 20932945.
44. ^ Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, et al. (September 1995). "Generalized lysosomal storage in Yunis Varón syndrome". Neuromuscular Disorders. 5 (5): 423–8. doi:10.1016/0960-8966(94)00089-r. PMID 7496176. S2CID 30559290.
45. ^ Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC (January 2011). "New ocular findings in two sisters with Yunis-Varón syndrome and literature review". European Journal of Medical Genetics. 54 (1): 76–81. doi:10.1016/j.ejmg.2010.09.013. PMID 20932945.
46. ^ "Yunis Varon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.
## External links[edit]
* Yunis-Varon syndrome; Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia at NIH's Office of Rare Diseases
Classification
D
* ICD-10: Q87.8
* OMIM: 216340
* MeSH: C536719 C536719, C536719
* DiseasesDB: 33830
External resources
* Orphanet: 3472
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
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Laurence–Moon–Bardet–Biedl
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Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
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*[CZE]: Czech Republic
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*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Yunis–Varon syndrome
|
c1857663
| 25,472 |
wikipedia
|
https://en.wikipedia.org/wiki/Yunis%E2%80%93Varon_syndrome
| 2021-01-18T18:36:53 |
{"gard": ["331"], "mesh": ["C536719"], "umls": ["C1857663"], "orphanet": ["3472"], "wikidata": ["Q8061303"]}
|
Human disease (neurological condition)
Not to be confused with Hashimoto's thyroiditis, also known as Hashimoto's disease.
Hashimoto's encephalopathy
Other namesSteroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT)
Brain SPECT transaxial images of a patient afflicted with Hashimoto's encephalopathy.
SpecialtyNeurology
Hashimoto's encephalopathy, also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a neurological condition characterized by encephalopathy, thyroid autoimmunity, and good clinical response to corticosteroids. It is associated with Hashimoto's thyroiditis, and was first described in 1966. It is sometimes referred to as a neuroendocrine disorder, although the condition's relationship to the endocrine system is widely disputed. It is recognized as a rare disease by the NIH Genetic and Rare Diseases Information Center.[1]
Up to 2005, almost 200 case reports of this disease were published. Between 1990 and 2000, 43 cases were published. Since that time, research has expanded and numerous cases are being reported by scientists around the world, suggesting that this rare condition is likely to have been significantly undiagnosed in the past. Over 100 scientific articles on Hashimoto's encephalopathy were published between 2000 and 2013.[2]
## Contents
* 1 Signs and symptoms
* 2 Pathogenesis
* 2.1 Pathology
* 3 Diagnosis
* 3.1 Laboratory and radiological findings
* 3.2 Definition
* 3.3 Differential diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 Alternative names
* 9 References
* 10 Further reading
* 11 External links
## Signs and symptoms[edit]
The onset of symptoms tends to be fairly gradual and to occur over 1-12 years.
Symptoms of Hashimoto's encephalopathy may include:
* Personality changes
* Aggression
* Delusional behavior
* Concentration and memory problems
* Coma
* Disorientation
* Headaches
* Jerks in the muscles (myoclonus – 65% of cases)
* Lack of coordination (ataxia – 65% of cases)
* Partial paralysis on the right side
* Psychosis
* Seizures (60% of cases)
* Sleep abnormalities (55% of cases)
* Speech problems (transient aphasia – 80% ofcases)
* Status epilepticus (20% of cases)
* Tremors (80% of cases)
## Pathogenesis[edit]
The mechanism of pathogenesis is not known, but is thought to be an autoimmune disorder, similar to Hashimoto's thyroiditis, as its name suggests.
Consistent with this hypothesis, autoantibodies to alpha-enolase have been found to be associated with Hashimoto's encephalopathy.[3] Since enolase is the penultimate step in glycolysis, if it were inhibited (for example by being bound by autoantibodies), one would expect decreased energy production by each cell, leading to resulting atrophy of the affected organ.
This would occur most likely through each cell shrinking in size in response to the energy deficit (and/or in extreme situations from some cells dying via either apoptosis or necrosis, depending on location).[4] This may occur as a result of enough ATP not being available to maintain cellular functions - notably, failure of the Na/K ATPase, resulting in a loss of the gradient to drive the Na/Ca antiporter, which normally keeps Ca+
2 out of cells so it does not build to toxic levels that will rupture cell lysosomes leading to apoptosis. An additional feature of a low-energy state is failure to maintain axonal transport via dynein/kinesin ATPases, which in many diseases results in neuronal injury to both the brain and/or periphery.[5]
### Pathology[edit]
Very little is known about the pathology of Hashimoto's encephalopathy. Post mortem studies of some individuals have shown lymphocytic vasculitis of venules and veins in the brain stem and a diffuse gliosis involving gray matter more than white matter.
As mentioned above, autoantibodies to alpha-enolase associated with Hashimoto's encephalopathy have thus far been the most hypothesized mechanism of injury.[3]
## Diagnosis[edit]
### Laboratory and radiological findings[edit]
* Increased liver enzyme levels (55% cases)
* Increased thyroid-stimulating hormone (55% cases)
* Increased erythrocyte sedimentation rate (25% cases)
Cerebrospinal fluid findings:
* Raised protein (25% cases)
* Negative for 14–3–3 protein
* May contain antithyroid antibodies
* Magnetic resonance imaging abnormalities consistent with encephalopathy (26% f cases)
* Single photon emission computed tomography shows focal and global hypoperfusion (75% of cases)
* Cerebral angiography is normal
Thyroid hormone abnormalities are common (>80% of cases):
* Subclinical hypothyroidism (35% of cases)
* Overt hypothyroidism (20% of cases)
* Hyperthyroidism (5% of cases)
* Euthyroid on levothyroxine (10% of cases)
* Euthyroid not on levothyroxine (20% of cases)
Thyroid antibodies – both antithyroid peroxidase antibodies (anti-TPO, antithyroid microsomal antibodies, anti-M) and antithyroglobulin antibodies (anti-Tg) – in the disease are elevated, but their levels do not correlate with the severity.
Electroencephalogram studies, while almost always abnormal (98% of cases), are usually not diagnostic. The most common findings are diffuse or generalized slowing or frontal intermittent rhythmic delta activity. Prominent triphasic waves, focal slowing, epileptiform abnormalities, and photoparoxysmal and photomyogenic responses may be seen.[6]
### Definition[edit]
A relapsing encephalopathy occurs in association with Hashimoto's thyroiditis, with high titers of antithyroid antibodies. Clinically, the condition may present one or more symptoms. Onset is often gradual and may go unnoticed by the patient and close associates to the patients. Symptoms sometimes resolve themselves within days to weeks, leaving a patient undiagnosed. For many other patients, the condition may result in ongoing problems with a variety of manifestations, often confusing clinicians due to the diffuse nature of symptoms.
### Differential diagnosis[edit]
* Alzheimer's disease
* Cerebrovascular accidents (stroke)
* Creutzfeldt–Jakob disease
* Epilepsy
* Migraine (including basilar, hemiplegic, and retinal types)
* Other forms of autoimmune encephalitis, including forms of limbic encephalitis such as anti-NMDA receptor encephalitis
* Schizophrenia
* Spontaneous cerebrospinal fluid leak
* Viral encephalitis
* Transient ischemic attack
## Treatment[edit]
Because most patients respond to corticosteroids or immunosuppressant treatment, this condition is now also referred to as steroid-responsive encephalopathy.
Initial treatment is usually with oral prednisone (50–150 mg/day) or high-dose intravenous methylprednisolone (1 g/day) for 3–7 days. Thyroid hormone treatment is also included if required.
Failure of some patients to respond to this first-line treatment has produced a variety of alternative treatments, including azathioprine, cyclophosphamide, chloroquine, methotrexate, periodic intravenous immunoglobulin, and plasma exchange. No controlled trials have been conducted, so the optimal treatment is not known.
Seizures, if present, are controlled with typical antiepileptic agents.
## Prognosis[edit]
Duration of treatment is usually between 2 and 25 years. Earlier reports suggested that 90% of cases stay in remission after discontinuation of treatment, but this is at odds with more recent studies, which suggest that relapse commonly occurs after initial high-dose steroid treatment.[7][8] Left untreated, this condition can result in coma and death.
## Epidemiology[edit]
The prevalence has been estimated to be 2.1/100,000[9] with a male-to-female ratio of 1:4. The mean age of onset is 44 with 20% of cases presenting before the age of 18 years. Most reported cases occur during the patient's fifth decade of life.
## History[edit]
The first case of HE was described by Brain et al. in 1966.[10] The patient was a 48-year-old man with hypothyroidism, multiple episodes of encephalopathy, stroke-like symptoms, and Hashimoto's thyroiditis confirmed by elevated antithyroid antibodies.
## Alternative names[edit]
* Steroid-responsive encephalopathy associated with autoimmune thyroiditis, SREAT
* Nonvasculitic autoimmune meningoencephalitis, NAIM
* Encephalopathy associated with autoimmune thyroid disease, EAATD
## References[edit]
1. ^ "Hashimoto's encephalitis - Disease - Overview". Genetic and Rare Diseases Information Center (GARD).
2. ^ "Scientific Research/Articles – Articles Published in 2014". hesaonline.org. Archived from the original on 2013-07-08.
3. ^ a b Fujii A, Yoneda M, Ito T, Yamamura O, Satomi S, Higa H, Kimura A, Suzuki M, Yamashita M, Yuasa T, Suzuki H, Kuriyama M (May 2005). "Autoantibodies against the amino terminal of alpha-enolase are a useful diagnostic marker of Hashimoto's encephalopathy". J. Neuroimmunol. 162 (1–2): 130–6. doi:10.1016/j.jneuroim.2005.02.004. PMID 15833368. S2CID 43249019.
4. ^ Shigeomi Shimizu2, Yutaka Eguchi, Wataru Kamiike, Yuko Itoh, Jun-ichi Hasegawa, Kazuo Yamabe, Yoshinori Otsuki, Hikaru Matsuda, and Yoshihide Tsujimoto The First Department of Surgery. Department of Medical Genetics. BiomedicalResearch Center. Osaka University Medical School, 2-2 Yatnadfioka, Sunti 56.5. Japan, and Depannient of Anatomy and Biology. Osaka Medical College. Japan.| url=http://cancerres.aacrjournals.org/content/56/9/2161.full.pdf
5. ^ Ihejirika DF. PASS Program Course Notes: USMLE Preparation. Lulu.com; 2014.
6. ^ Li, Jie; Li, Fengzhen (2019-05-08). "Hashimoto's Encephalopathy and Seizure Disorders". Frontiers in Neurology. 10: 440. doi:10.3389/fneur.2019.00440. ISSN 1664-2295. PMC 6517482. PMID 31133960.
7. ^ Castillo P, Woodruff B, Caselli R, et al. (February 2006). "Steroid-responsive encephalopathy associated with autoimmune thyroiditis". Archives of Neurology. 63 (2): 197–202. doi:10.1001/archneur.63.2.197. PMID 16476807.
8. ^ Flanagan EP, McKeon A, Lennon VA, et al. (October 2010). "Autoimmune dementia: clinical course and predictors of immunotherapy response". Mayo Clinic Proceedings. 85 (10): 881–97. doi:10.4065/mcp.2010.0326. PMC 2947960. PMID 20884824.
9. ^ Ferracci F, Bertiato G, Moretto G (February 2004). "Hashimoto's encephalopathy: epidemiologic data and pathogenetic considerations". Journal of the Neurological Sciences. 217 (2): 165–8. doi:10.1016/j.jns.2003.09.007. PMID 14706219. S2CID 19827218.
10. ^ Brain L, Jellinek EH, Ball K (September 1966). "Hashimoto's disease and encephalopathy". The Lancet. 2 (7462): 512–4. doi:10.1016/S0140-6736(66)92876-5. PMID 4161638.
## Further reading[edit]
* Hashimoto's Encephalopathy SREAT Alliance (2013). Understanding Hashimoto's Encephalopathy: A Guide for Patients, Families, and Caregivers, Featuring Stories of HE Patients from Around the World. North Charleston, SC: CreateSpace Independent Publishing Platform. ISBN 9781484883099. OCLC 890816771.
* Schiess N, Pardo CA (October 2008). "Hashimoto's encephalopathy". Annals of the New York Academy of Sciences. 1142 (1): 254–65. Bibcode:2008NYASA1142..254S. doi:10.1196/annals.1444.018. PMID 18990131. S2CID 1312798.
* Taylor SE, Garalda ME, Tudor-Williams G, Martinez-Alier N (February 2003). "An organic cause of neuropsychiatric illness in adolescence". The Lancet. 361 (9357): 572. doi:10.1016/S0140-6736(03)12517-2. PMID 12598143. S2CID 35053683.
## External links[edit]
* Hashimoto's Encephalopathy SREAT Alliance—non-profit organization
Classification
D
* ICD-10: Xxx.x
* ICD-9-CM: xxx
* MeSH: C535841 C535841, C535841
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic
Brain and spinal cord
* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis
Brain/
encephalopathy
Degenerative
Extrapyramidal and
movement disorders
* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA
* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia
* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person
Dementia
* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS
Episodic/
paroxysmal
Seizures and epilepsy
* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache
Cerebrovascular
* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases
Other
* Sleep disorders
* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension
Other
* Brain herniation
* Reye syndrome
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy
Both/either
Degenerative
SA
* Friedreich's ataxia
* Ataxia–telangiectasia
MND
* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia
* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hashimoto's encephalopathy
|
c0393639
| 25,473 |
wikipedia
|
https://en.wikipedia.org/wiki/Hashimoto%27s_encephalopathy
| 2021-01-18T18:33:06 |
{"gard": ["8570"], "mesh": ["C535841"], "umls": ["C0393639"], "orphanet": ["83601"], "wikidata": ["Q4532132"]}
|
## Summary
### Clinical characteristics.
Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 49 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
### Diagnosis/testing.
The diagnosis of Perry syndrome is established in a proband with all four of the cardinal features:
* Early-onset familial parkinsonism
* Mood/personality changes
* Weight loss
* Central hypoventilation
Identification of a heterozygous DCTN1 pathogenic variant on molecular genetic testing confirms the diagnosis if clinical features are inconclusive.
### Management.
Treatment of manifestations: Dopaminergic therapy (particularly carbidopa/levodopa) should be considered in all individuals with significant parkinsonism. Although response to levodopa is often poor, some individuals may have long-term benefit. At times large doses of carbidopa/levodopa are required. Ventilation support may prolong life expectancy and improve quality of life. Those individuals with psychiatric manifestations may benefit from antidepressants and psychiatric care. Weight loss is managed with appropriate dietary changes.
Prevention of secondary complications: Adequate caloric intake to prevent weight loss.
Surveillance: Routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), motor function, and mood/personality changes.
Agents/circumstances to avoid: Central respiratory depressants (e.g., benzodiazepines, alcohol, narcotics).
### Genetic counseling.
Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to a de novo pathogenic variant is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the pathogenic variant. Prenatal and preimplantation genetic testing are possible for families in which the pathogenic variant has been identified.
## Diagnosis
### Suggestive Findings
Perry syndrome should be suspected in individuals with these cardinal clinical features:
* Early-onset familial parkinsonism
* Mood/personality changes (depression, apathy, withdrawal, disinhibition)
* Weight loss
* Central hypoventilation
Diagnostic criteria were previously proposed prior to the availability of molecular and immunohistochemistry testing [Wider & Wszolek 2008]. However, with the availability of molecular genetic testing they are no longer crucial for the diagnosis.
### Establishing the Diagnosis
The diagnosis of Perry syndrome can be established in a proband who has ALL of the above cardinal features.
Identification of a heterozygous DCTN1 pathogenic variant on molecular genetic testing confirms the diagnosis if clinical features are inconclusive (see Table 1). Molecular testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
* Single-gene testing. Perform sequence analysis of DCTN1.
Note: Since Perry syndrome occurs through a dominant-negative mechanism (see Molecular Genetics) and large intragenic deletion or duplication has not been reported, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant. Detailed genetic studies for intragenic deletions or duplications have not been conducted.
* A multigene panel that includes DCTN1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that includes DCTN1) fails to confirm a diagnosis in an individual with features of Perry syndrome. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Perry syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
DCTN1Sequence analysis 321/21 (100%) 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
All 21 probands with Perry syndrome reported thus far have one of nine DCTN1 pathogenic variants located in exon 2 (see Table 2) [Farrer et al 2009, Newsway et al 2010, Ohshima et al 2010, Wider et al 2010, Aji et al 2013, Araki et al 2014, Caroppo et al 2014, Chung et al 2014, Pretelt et al 2014, Tacik et al 2014, Barreto et al 2015, Gustavsson et al 2016].
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Since Perry syndrome occurs through a dominant-negative mechanism and large intragenic deletion or duplication has not been reported, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant.
## Clinical Characteristics
### Clinical Description
The cardinal findings of Perry syndrome are parkinsonism, hypoventilation, depression, and weight loss [Wider & Wszolek 2008, Wider et al 2010]. The mean age at onset is 49 years (range: 35-70 years) and the mean disease duration is five years (range: 2-14 years). Psychiatric (depression, apathy, character changes, withdrawal) and motor (parkinsonism) symptoms tend to occur early, whereas severe weight loss and hypoventilation manifest later. In most affected persons the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide [Wider & Wszolek 2008].
Parkinsonism. Most affected individuals present with akinetic-rigid and rather symmetric parkinsonism that is less severe than that found in Parkinson disease. When present, tremor is often postural; however, typical rest tremor has been reported.
Hypoventilation. Alveolar hypoventilation manifests particularly at night or during sleep with tachypnea alternating with normal respiratory cycles, leading to frequent awakenings. Polysomnographic recordings show that hypoxemia and hypercapnia are of central origin; that is, there is no obstructive or structural respiratory tract abnormality. One detailed autopsy study demonstrated significant neuronal loss in regions critical for respiratory drive (ventrolateral medulla [pre-Bötzinger complex] and dorsal raphe nucleus), which may account for central hypoventilation [Tsuboi et al 2008]. Of note, hypoventilation was not reported in one of the ten families with molecularly confirmed Perry syndrome [Roy et al 1988, Farrer et al 2009].
Sleep difficulties, a common complaint, reflect hypoventilation.
Depression. Psychiatric findings are dominated by apathy, social withdrawal, and "loss of psychic self-activation" (referred to as "athymhormia" in the French literature), although true depression has also been reported.
One affected individual also presented with frontotemporal dementia-type behavioral manifestations, downward gaze abnormalities, and autonomic dysfunction [Newsway et al 2010].
Weight loss. No anatomic substrate has been reported to account for severe weight loss. Additionally, in most affected individuals weight loss cannot be attributed to significant dysphagia. Weight loss may in fact reflect psychiatric changes; however, mechanisms involving central modification of hunger sensation or an increase in metabolic rate cannot be excluded.
Autonomic failure. In one family from Japan with a DCTN1 pathogenic variant, the four affected individuals displayed early and severe autonomic failure [Ohshima et al 2010].
Neuroimaging
* Structural brain imaging is usually normal.
* Functional imaging using 18-fluorodeoxyglucose PET (FDG-PET) showed reduced metabolic rate in the lateral prefrontal and temporal regions in one study [Lechevalier et al 2005].
* Dopaminergic pathway functional imaging using 18-fluorodopa PET (FD-PET) showed reduced striatal tracer uptake [Perry et al 1990, Felicio et al 2014]. The tracer reduction uptake was also observed to a lesser extent in an individual with a DCTN1 pathogenic variant who did not have clinical features of Perry syndrome [Felicio et al 2014].
* Serotonin transporter imaging using 11C-3-amino-4-(2-dimethylaminomethyl-phenylsulfanyl)-benzonitrile (DASB-PET) showed reduced tracer uptake in cortical and subcortical regions [Felicio et al 2014].
* Transcranial sonography showed hyperechogenicity in the substantia nigra comparable to that observed in Parkinson disease [Saka et al 2010].
* In four affected individuals in one family from Japan, decreased cardiac uptake with [123]-metaiodobenzylguanidine scintigram was reported [Ohshima et al 2010].
Neuropathology. Histology shows severe neuronal loss in the substantia nigra, with no Lewy bodies. Lesser degrees of neuronal loss are found in the locus ceruleus, lentiform nucleus, hypothalamus, periaqueductal gray matter, dorsal raphe nucleus, and brain stem reticular formation [Wider et al 2009]. Specific loss of putative respiratory neurons was demonstrated in the ventrolateral medulla and dorsal raphe nucleus [Tsuboi et al 2008].
Immunohistochemistry shows ubiquitin- and transactive response DNA-binding protein 43 (TDP-43)-positive neuronal inclusions, dystrophic neurites, glial cytoplasmic inclusions, and axonal spheroids [Wider et al 2009]. TDP-43-positive inclusions predominate in regions belonging to the extrapyramidal system including the substantia nigra, globus pallidus, striatum, and subthalamic nucleus. Interestingly, TDP-43-positive inclusions in persons with Perry syndrome resemble those found in ubiquitin-positive frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS), although with distinct regional distributions.
### Genotype-Phenotype Correlations
Eight pathogenic variants in DCTN1 have been associated with Perry syndrome (see Table 2) [Farrer et al 2009, Aji et al 2013, Araki et al 2014, Chung et al 2014, Tacik et al 2014]. No clear genotype-phenotype correlation exists, in that families/individuals with the same pathogenic variant in DCTN1 do not necessarily share the same phenotype.
Persons with Perry syndrome may not develop all of the cardinal manifestations. For example, individuals from the same family may not have hypoventilation and weight loss, and others may lack psychiatric symptoms [Wider et al 2010].
### Penetrance
Although precise estimates have not been calculated given the limited number of families reported, penetrance is age related and high, with all asymptomatic heterozygotes being younger than or within the range of onset age.
### Nomenclature
Before Perry syndrome became the prevailing term for the disorder, several terms had been used to describe this condition, including hereditary mental depression and parkinsonism with taurine deficiency [Perry et al 1975], familial fatal parkinsonism with alveolar hypoventilation and mental depression [Purdy et al 1979], familial parkinsonism, apathy, weight loss, and central hypoventilation [Roy et al 1988], dominantly inherited apathy, central hypoventilation, and Parkinson’s syndrome [Perry et al 1990], familial parkinsonism with athymhormia and hypoventilation [Lechevalier et al 1992], familial parkinsonism with depression [Bhatia et al 1993], and familial parkinsonism with apathy, depression, and central hypoventilation [Elibol et al 2002].
"Perry syndrome" has appeared in the literature since 2002 [Elibol et al 2002]; it is named after Professor Thomas L Perry, who reported the first Canadian family with this disease.
### Prevalence
Since the original reports of Perry et al [1975] and Perry et al [1990], 21 additional families have been reported from Canada, the United States, the United Kingdom, Japan, France, Turkey, New Zealand, Colombia, Korea, Portugal, and Taiwan [Purdy et al 1979, Roy et al 1988, Lechevalier et al 1992, Tsuboi et al 2002, Lechevalier et al 2005, Wider & Wszolek 2008, Newsway et al 2010, Ohshima et al 2010, Saka et al 2010, Wider et al 2010, Aji et al 2013, Chung et al 2014, Pretelt et al 2014, Tacik et al 2014, Araki et al 2014, Caroppo et al 2014, Barreto et al 2015, Gustavsson et al 2016].
## Differential Diagnosis
Other forms of familial early-onset parkinsonism that need to be distinguished from Perry syndrome include those types caused by mutation of PRKN (PARK2) (see Parkin Type of Early-Onset Parkinson Disease), PINK1 (see PINK1 Type of Young-Onset Parkinson Disease), PARK7 (formerly DJ-1), or LRRK2 (see LRRK2-Related Parkinson Disease). The findings of personality changes, weight loss, and hypoventilation in Perry syndrome tend to distinguish it from other forms of early-onset Parkinson disease (see Parkinson Disease Overview). Additionally, response to standard doses of levodopa is usually poorer or of shorter duration in Perry syndrome than in other forms of early-onset Parkinson disease.
Mood/personality changes in Perry syndrome may suggest frontotemporal dementia, which has a similar age of onset and is often associated with levodopa-resistant parkinsonism.
Perry syndrome needs to be distinguished from frontotemporal dementia caused by mutation of MAPT or GRN (see GRN-Related Frontotemporal Dementia). An individual of Japanese ancestry who showed symptoms reminiscent of Perry syndrome was found to have an MAPT pathogenic variant. On autopsy examination, the brain showed tau-positive inclusions; transactive response DNA-binding protein 43 (TDP-43)-positive inclusions were not present [Omoto et al 2012].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Perry syndrome the following evaluations are recommended:
* Neurologic evaluation of motor function
* Sleep study and evaluation by a pulmonologist or sleep disorders consultant for ventilation support if required
* Psychiatric evaluation and (if needed) neuropsychological examination
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Parkinsonism. Dopaminergic therapy (particularly carbidopa/levodopa) should be considered in all individuals with significant parkinsonism. Response to levodopa is usually absent, erratic, or transient in Perry syndrome [Tsuboi et al 2002, Wider & Wszolek 2008]. However, large doses of carbidopa/levodopa (>2g) have been used successfully to reduce rigidity, tremor, and other symptoms in two individuals, one from the new British kindred [Newsway et al 2010] and one from the original Canadian family [J Stoessl, personal communication].
Hypoventilation. Ventilation support (invasive or noninvasive) may prolong life expectancy and have a significant impact on quality of life. Several persons without evidence of daytime central hypoventilation or respiratory troubles died suddenly at night most likely as a result of nocturnal hypoventilation. Therefore, ventilation support may be needed only during sleep [Wider & Wszolek, personal observation]. A bilateral diaphragmatic pacemaker may help combat respiratory insufficiency [Pretelt et al 2014].
Depression. Psychiatric manifestations may require antidepressants and psychiatric follow up to help reduce risk of suicide.
Weight loss. Careful weight follow up is indicated and high caloric intake should be considered if weight loss is present.
### Prevention of Secondary Complications
Adequate caloric intake must be ensured to prevent weight loss.
### Surveillance
Routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), motor function, and mood/personality changes is appropriate.
### Agents/Circumstances to Avoid
Use of central respiratory depressants (e.g., benzodiazepines, alcohol, narcotics) should be minimized.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Perry Syndrome
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c1868594
| 25,474 |
gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK47027/
| 2021-01-18T21:03:57 |
{"mesh": ["C566822"], "synonyms": []}
|
"MERS" redirects here. For other uses, see MERS (disambiguation).
This article is about the disease. For the virus that causes it, see Middle East respiratory syndrome-related coronavirus.
Viral respiratory infection
Middle East respiratory syndrome
Other namesCamel flu[1]
MERS-CoV virions
SpecialtyInfectious disease
SymptomsFever, cough, shortness of breath[2]
Usual onset2 to 14 days post exposure[3]
Duration2012–present[4]
CausesMERS-coronavirus (MERS-CoV)[2]
Risk factorsContact with camels and camel products[2]
Diagnostic methodrRT-PCR testing[5]
PreventionHand washing, avoiding contact with camels and camel products[6]
TreatmentSymptomatic and supportive[2]
Frequency2519 cases (as January 2020)[4]
Deaths866 (35%)[4]
Middle East respiratory syndrome (MERS), also known as camel flu,[1] is a viral respiratory infection caused by the MERS-coronavirus (MERS-CoV).[2] Symptoms may range from none, to mild, to severe.[7][2] Typical symptoms include fever, cough, diarrhea, and shortness of breath.[2] The disease is typically more severe in those with other health problems.[2][7]
MERS-CoV is a coronavirus believed to be originally from bats.[2] However, humans are typically infected from camels, either during direct contact or indirectly.[2] Spread between humans typically requires close contact with an infected person.[2] Its spread is uncommon outside of hospitals.[7] Thus, its risk to the global population is currently deemed to be fairly low.[7] Diagnosis is by rRT-PCR testing of blood and respiratory samples.[5]
As of 2020[update] there is no specific vaccine or treatment for the disease,[3] but a number are being developed.[2] The World Health Organization (WHO) recommends that those who come in contact with camels wash their hands and not touch sick camels.[2] They also recommend that camel-based food products be appropriately cooked.[2] Treatments that help with the symptoms and support body functioning may be used.[2]
The first identified case occurred in June 2012 in Jeddah, Saudi Arabia, and most cases have occurred in the Arabian Peninsula.[2][7] About 2,500 cases have been reported as of January 2020.[4] About 35% of those who are diagnosed with the disease die from it.[2] Larger outbreaks have occurred in South Korea in 2015 and in Saudi Arabia in 2018.[8][2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Virology
* 2.2 Transmission
* 2.2.1 Camels
* 2.2.2 Between people
* 3 Diagnosis
* 3.1 World Health Organization
* 3.2 Centers for Disease Control
* 3.3 Medical imaging
* 3.4 Laboratory testing
* 4 Prevention
* 5 Treatment
* 6 Epidemiology
* 6.1 Saudi Arabia
* 6.2 United States
* 6.3 Netherlands
* 6.4 South Korea
* 6.5 Philippines
* 6.6 United Kingdom
* 6.7 Kenya
* 6.8 Comparisons
* 7 History
* 8 Research
* 9 References
* 10 External links
## Signs and symptoms[edit]
Symptoms of MERS
Early reports compared the viruses to severe acute respiratory syndrome (SARS),[9] and it has been referred to as Saudi Arabia's SARS-like virus.[10] The first person, in June 2012, had a fever, cough, expectoration, and shortness of breath.[9] One review of 47 laboratory confirmed cases in Saudi Arabia gave the most common presenting symptoms as fever in 98%, cough in 83%, shortness of breath in 72% and myalgia in 32% of people. There were also frequent gastrointestinal symptoms with diarrhea in 26%, vomiting in 21%, abdominal pain in 17% of people. 72% of people required mechanical ventilation. There were also 3.3 males for every female.[11] One study of a hospital-based outbreak of MERS had an estimated incubation period of 5.5 days (95% confidence interval 1.9 to 14.7 days).[12] MERS can range from asymptomatic disease to severe pneumonia leading to acute respiratory distress syndrome (ARDS).[11] Kidney failure, disseminated intravascular coagulation (DIC), and pericarditis have also been reported.[13]
## Cause[edit]
### Virology[edit]
Main article: Middle East respiratory syndrome coronavirus
MERS coronaviruses under electron microscope.
Middle East respiratory syndrome is caused by the MERS coronavirus (MERS-CoV), a species with single-stranded RNA belonging to the genus betacoronavirus which is distinct from SARS coronavirus and the common-cold coronavirus.[14] Its genomes are phylogenetically classified into two clades, Clades A and B. Early cases of MERS were of Clade A clusters (EMC/2012 and Jordan-N3/2012) while new cases are genetically different in general (Clade B).[15] The virus grows readily on Vero cells and LLC-MK2 cells.[16] In November 2012, Egyptian virologist Dr. Ali Zaki sent a virus sample from the first confirmed case in Saudi Arabia to virologist Ron Fouchier, a leading coronavirus researcher at the Erasmus Medical Center (EMC) in Rotterdam, The Netherlands.[17] The second laboratory-proven case was in London, confirmed by the UK Health Protection Agency (HPA).[18][19] The HPA named the virus the London1_novel CoV 2012.[20]
### Transmission[edit]
See also: Middle East respiratory syndrome-related coronavirus
#### Camels[edit]
A study performed between 2010 and 2013, in which the incidence of MERS was evaluated in 310 dromedary camels, revealed high titers of neutralizing antibodies to MERS-CoV in the blood serum of these animals.[21] A further study sequenced MERS-CoV from nasal swabs of dromedary camels in Saudi Arabia and found they had sequences identical to previously sequenced human isolates. Some individual camels were also found to have more than one genomic variant in their nasopharynx.[22] There is also a report of a Saudi Arabian man who became ill seven days after applying topical medicine to the noses of several sick camels and later he and one of the camels were found to have identical strains of MERS-CoV.[23][24] It is still unclear how the virus is transmitted from camels to humans. The World Health Organization advises avoiding contact with camels and to eat only fully cooked camel meat, pasteurized camel milk, and to avoid drinking camel urine.[25] The Saudi Ministry of Agriculture has advised people to avoid contact with camels or wear breathing masks when around them.[26] In response "some people have refused to listen to the government's advice"[27] and kiss their camels in defiance of their government's advice.
#### Between people[edit]
There has been evidence of limited, but not sustained spread of MERS-CoV from person to person, both in households as well as in health care settings like hospitals.[12][28] Most transmission has occurred "in the circumstances of close contact with severely ill persons in healthcare or household settings" and there is no evidence of transmission from asymptomatic cases.[29] Cluster sizes have ranged from 1 to 26 people, with an average of 2.7.[30]
## Diagnosis[edit]
According to World Health Organization, the interim case definition is that a confirmed case is identified in a person with a positive lab test by "molecular diagnostics including either a positive PCR on at least two specific genomic targets or a single positive target with sequencing on a second".[31]
### World Health Organization[edit]
According to the WHO, a probable case is[31]
* a person with a fever, respiratory infection, and evidence of pneumonia or acute respiratory distress syndrome, where testing for MERS-CoV is unavailable or negative on a single inadequate specimen, and the person has a direct link with a confirmed case.
* A person with an acute febrile respiratory illness with clinical, radiological, or histopathological evidence of pulmonary parenchymal disease (e.g., pneumonia or acute respiratory distress Syndrome), an inconclusive MERS-CoV laboratory test (that is, a positive screening test without confirmation), and a resident of or traveler to Middle Eastern countries where MERS-CoV virus is believed to be circulating in the 14 days before onset of illness.
* A person with an acute febrile respiratory illness of any severity, an inconclusive MERS-CoV laboratory test (that is, a positive screening test without confirmation), and a direct epidemiologic link with a confirmed MERS-CoV case.
### Centers for Disease Control[edit]
In the United States, the Centers for Disease Control and Prevention (CDC) recommend investigating any person with:[32][33]
* Fever and pneumonia or acute respiratory distress syndrome (based on clinical or radiological evidence) and either:
* a history of travel from countries in or near the Arabian Peninsula within 14 days before symptom onset, or
* close contact with a symptomatic traveler who developed fever and acute respiratory illness (not necessarily pneumonia) within 14 days after traveling from countries in or near the Arabian Peninsula or
* a member of a cluster of people with severe acute respiratory illness (e.g. fever and pneumonia requiring hospitalization) of unknown cause in which MERS-CoV is being evaluated, in consultation with state and local health departments.
* Fever and symptoms of respiratory illness (not necessarily pneumonia; e.g., cough, shortness of breath) and being in a healthcare facility (as a patient, worker, or visitor) within 14 days before symptom onset in a country or territory in or near the Arabian Peninsula in which recent healthcare-associated cases of MERS have been identified.
* Fever or symptoms of respiratory illness (not necessarily pneumonia; e.g., cough, shortness of breath) and close contact with a confirmed MERS case while the case was ill.
### Medical imaging[edit]
Chest X-ray of a case of MERS
Chest X-ray findings tend to show bilateral patchy infiltrates consistent with viral pneumonitis and acute respiratory distress syndrome (ARDS). Lower lobes tend to be more involved. CT scans show interstitial infiltrates.[28]
### Laboratory testing[edit]
MERS cases have been reported to have low white blood cell count, and in particular low lymphocytes.[28] For PCR[clarification needed] testing, the World Health Organization (WHO) recommends obtaining samples from the lower respiratory tract via bronchoalveolar lavage (BAL), sputum sample or tracheal aspirate as these have the highest viral loads.[34] There have also been studies utilizing upper respiratory sampling via nasopharyngeal swab.[11]
Several highly sensitive, confirmatory real-time RT-PCR assays exist for rapid identification of MERS-CoV from patient-derived samples. These assays attempt to amplify upE (targets elements upstream of the E gene),[35] open reading frame 1B (targets the ORF1b gene)[35] and open reading frame 1A (targets the ORF1a gene).[36] The WHO recommends the upE target for screening assays as it is highly sensitive.[34] In addition, hemi-nested sequencing amplicons targeting RdRp (present in all coronaviruses) and nucleocapsid (N) gene[37] (specific to MERS-CoV) fragments can be generated for confirmation via sequencing. Reports of potential polymorphisms in the N gene between isolates highlight the necessity for sequence-based characterization.[citation needed]
The WHO recommended testing algorithm is to start with an upE RT-PCR and if positive confirm with ORF 1A assay or RdRp or N gene sequence assay for confirmation. If both an upE and secondary assay are positive it is considered a confirmed case.[34]
Protocols for biologically safe immunofluorescence assays (IFA) have also been developed; however, antibodies against betacoronaviruses are known to cross-react within the genus. This effectively limits their use to confirmatory applications.[36] A more specific protein-microarray based assay has also been developed that did not show any cross-reactivity against population samples and serum known to be positive for other betacoronaviruses.[38] Due to the limited validation done so far with serological assays, WHO guidance is that "cases where the testing laboratory has reported positive serological test results in the absence of PCR testing or sequencing, are considered probable cases of MERS-CoV infection, if they meet the other conditions of that case definition."[34]
## Prevention[edit]
While the mechanism of spread of MERS-CoV is currently not known, based on experience with prior coronaviruses, such as SARS, the WHO currently recommends that all individuals coming into contact with MERS suspects should (in addition to standard precautions):[citation needed]
* Wear a medical mask
* Wear eye protection (i.e. goggles or a face shield)
* Wear a clean, non sterile, long sleeved gown; and gloves (some procedures may require sterile gloves)
* Perform hand hygiene before and after contact with the person and his or her surroundings and immediately after removal of personal protective equipment (PPE)[39]
For procedures which carry a risk of aerosolization, such as intubation, the WHO recommends that care providers also:
* Wear a particulate respirator and, when putting on a disposable particulate respirator, always check the seal
* Wear eye protection (i.e. goggles or a face shield)
* Wear a clean, non-sterile, long-sleeved gown and gloves (some of these procedures require sterile gloves)
* Wear an impermeable apron for some procedures with expected high fluid volumes that might penetrate the gown
* Perform procedures in an adequately ventilated room; i.e. minimum of 6 to 12 air changes per hour in facilities with a mechanically ventilated room and at least 60 liters/second/patient in facilities with natural ventilation
* Limit the number of persons present in the room to the absolute minimum required for the person's care and support
* Perform hand hygiene before and after contact with the person and his or her surroundings and after PPE removal.[39]
The duration of infectivity is also unknown so it is unclear how long people must be isolated, but current recommendations are for 24 hours after resolution of symptoms. In the SARS outbreak the virus was not cultured from people after the resolution of their symptoms.[40]
It is believed that the existing SARS research may provide a useful template for developing vaccines and therapeutics against a MERS-CoV infection.[41][42] As of March 2020 there was one (DNA based) MERS vaccine which completed phase I clinical trials in humans,[43] and three others in progress all of which are viral vectored vaccines, two adenoviral vectored (ChAdOx1-MERS,[44][45] BVRS-GamVac[46]) and one MVA vectored (MVA-MERS-S[47]).[48]
## Treatment[edit]
As of 2020, there is no specific vaccine or treatment for the disease.[3] Using extra-corporeal membrane oxygenation (ECMO) seems to improve outcomes significantly.[49]
Neither the combination of antivirals and interferons (ribavirin \+ interferon alfa-2a or interferon alfa-2b) nor corticosteroids improved outcomes.[50]
## Epidemiology[edit]
See also: 2012 Middle East respiratory syndrome coronavirus outbreak
Total cases
MERS confirmed cases and deaths
From June 2012 to January 2020 Cases Deaths Fatality
WHO total as of Jan 2020[51] 2519 866 34.3%
Reported confirmed cases per country
Saudi Arabia[52] 1029 452 44%
South Korea[53] 184 38 20%
United Arab Emirates[54] 74 10 14%
Jordan[54] 19 6 32%
Qatar[54] 10 4 40%
Oman[54] 5 3 60%
Iran[54] 5 2 40%
United Kingdom[54] 4 3 75%
Germany[54] 3 1 33%
Kuwait[54] 3 1 33%
Tunisia[54] 3 1 33%
Algeria[54] 2 1 50%
France[54] 2 1 50%
Spain[55][56] 2 0 0%
Netherlands[54][57] 2 0 0%
Philippines[54] 2 0 0%
United States[54] 2 0 0%
Greece[54] 1 1 100%
Malaysia[54] 1 1 100%
Turkey[54][58] 1 1 100%
Yemen[54] 1 1 100%
Austria[54] 1 0 0%
Egypt[54][59] 1 0 0%
Italy[54] 1 0 0%
Lebanon[54][60] 1 0 0%
Thailand[61] 1 0 0%
Reported total 1360 527 39%
MERS has had a relatively low population-wide reproduction number in previous outbreaks, but such outbreaks have occurred due to superspreading events.[62] Total laboratory-confirmed cases of MERS world-wide per year have been as follows:[63][64]
2012 2013 2014 2015 2016 2017 2018 2019
14[64] 100[64] 381[64] 492[63] 249[63] 250[63] 147[63] 212 (as of 12 Dec)[65]
### Saudi Arabia[edit]
See also: 2018 Middle East respiratory syndrome outbreak
MERS was also implicated in an outbreak in April 2014 in Saudi Arabia, where MERS has infected 688 people and 282 MERS-related deaths have been reported since 2012.[66] In response to newly reported cases and deaths, and the resignation of four doctors at Jeddah's King Fahd Hospital who refused to treat MERS patients for fear of infection, the government removed the Minister of Health and set up three MERS treatment centers.[67][68] Eighteen more cases were reported in early May.[69] In June 2014, Saudi Arabia announced 113 previously unreported cases of MERS, revising the death toll to 282.
A hospital-related outbreak in Riyadh in the summer of 2015 increased fears of an epidemic occurring during the annual Hajj pilgrimage that was to begin in late September. After a period of few cases, cases began increasing in the middle of the summer.[70] The CDC placed the travel health alert to level 2, which calls for taking enhanced precautions.[71]
In May 2019, 14 cases of MERS were reported to the World Health Organisation (WHO) by Saudi authorities, of which five were fatal. All those who died had comorbidities and other relatively serious health problems ranging from only diabetes mellitus in one person (aged 35) to complicated combinations of diabetes mellitus, hypertension and ischemic heart disease in two (65 and 80 years old) and diabetes mellitus, hypertension and nephropathy in another one who was 73 years old. Another patient who died and was 64 years old, had diabetes mellitus and hypertension. All those who died were males and three of them were reported to have had contact with, and exposure to, camels. Among the nine persons who survived were two females who were believed to have had contact with a person infected with MERS, one being a 23-year-old healthcare worker. Of the total 14 cases, four were females and 10 were males. All females survived. Reports of fatal cases were from Riyadh, Jeddah, Madinah and Najran. WHO did not recommend screening of travelers upon arrival or traveling restrictions.[72][73]
### United States[edit]
On 2 May 2014, the Centers for Disease Control and Prevention (CDC) confirmed the first diagnosis of MERS in the United States at Community Hospital in Munster, Indiana. The man diagnosed was a health care worker who had been in Saudi Arabia a week earlier, and was reported to be in good condition.[74][75] A second patient who also traveled from Saudi Arabia was reported in Orlando, Florida on 12 May 2014.[76][77]
### Netherlands[edit]
On 14 May 2014, officials in the Netherlands reported the first case had appeared.[78]
### South Korea[edit]
See also: 2015 Middle East respiratory syndrome outbreak in South Korea and 2018 Middle East respiratory syndrome outbreak
2015 MERS outbreak in South Korea
In May 2015, the first case in South Korea was confirmed in a man who had visited Saudi Arabia, United Arab Emirates and Bahrain.[79] Another man from South Korea, who was travelling to China, was diagnosed as the first case in China. So far, no Chinese citizen has been found infected.[80]
As of 27 June 2015, 19 people in South Korea have died from this outbreak, with 184 confirmed cases of infection.[81] There have been at least 6508 quarantined.[82][83][84][85][86][87][excessive citations]
In 2018 a case was found in South Korea; the patient had recently returned from Kuwait (via Dubai).[88]
One study found that severe cases of illness had higher viral loads than milder cases, and that concentrations peaked in the second week of illness.[89]
### Philippines[edit]
In April 2014, MERS emerged in the Philippines with a suspected case of a home-bound Overseas Filipino Worker (OFW). Several suspected cases involving individuals who were on the same flight as the initial suspected case are being tracked but are believed to have dispersed throughout the country. Another suspected MERS-involved death in Sultan Kudarat province caused the Department of Health (DOH) to put out an alert.[90][91][92][93] On 6 July 2015 the DOH confirmed the second case of MERS in the Philippines. A 36-year-old male foreigner from the Middle East was tested positive.[94]
### United Kingdom[edit]
On 27 July 2015, the accident and emergency department at Manchester Royal Infirmary closed after two patients were treated for suspected MERS infection.[95] The facility was reopened later that evening, and it was later confirmed by Public Health England that the two patients had tested negative for the disease.[96]
### Kenya[edit]
In January 2016, a larger outbreak of MERS among camels in Kenya was reported.[97] By 5 February 2016 more than 500 camels had died of the disease.[98] On 12 February 2016, the disease was reported to be MERS.[99] No human cases were identified, although one study found antibodies in healthy humans in Kenya.[100]
### Comparisons[edit]
Saudi Arabia outbreak South Korea outbreak
Geographical location Middle East (Asia) Far East (Asia)
City/Province Riyadh, Jeddah Seoul, Daejeon, Gyeonggi province
Period 11 Apr - 9 June 2014 4 May - 15 June 2015
Overall case number 402 150
Health-care personnel (%) 27% 17%
Main transmission routes Health-care center associated Health-care center associated
Previous MERS case before outbreak Yes No
Types of secondary exposure who were not health-care personnel
Admission to health-care facility 34% 30%
Emergency department 8% 49%
Visit to patient at health-care facility 17% 29%
Annual outpatient department visit (per individual) 4.5 14.6
Annual number of hospital admission (per 100 individuals) 10.5 16.1
The table above provides a comparison between the 2014 Saudi Arabia outbreak and the South Korean outbreak in 2015 of the Middle East Respiratory Syndrome Coronavirus (MERS-CoV) infection.[101]
## History[edit]
Collaborative efforts were used in the identification of the MERS-CoV.[102] Egyptian virologist Dr. Ali Mohamed Zaki isolated and identified a previously unknown coronavirus from the lungs of a 60-year-old Saudi Arabian man with pneumonia and acute kidney injury.[9] After routine diagnostics failed to identify the causative agent, Zaki contacted Ron Fouchier, a leading virologist at the Erasmus Medical Center (EMC) in Rotterdam, the Netherlands, for advice.[103] Fouchier sequenced the virus from a sample sent by Zaki.
Fouchier used a broad-spectrum "pan-coronavirus" real-time reverse-transcription polymerase chain reaction (RT-qPCR) method to test for distinguishing features of a number of known coronaviruses (such as OC43, 229R, NL63, and SARS-CoV), as well as for RNA-dependent RNA polymerase (RdRp), a gene conserved in all coronaviruses known to infect humans. While the screens for known coronaviruses were all negative, the RdRp screen was positive.[102]
On 15 September 2012, Dr. Zaki's findings were posted on ProMED-mail, the Program for Monitoring Emerging Diseases, a public health on-line forum.[14]
The United Kingdom's Health Protection Agency (HPA) confirmed the diagnosis of severe respiratory illness associated with a new type of coronavirus in a second patient, a 49-year-old Qatari man who had recently been flown into the UK. He died from an acute, serious respiratory illness in a London hospital.[102][19] In September 2012, the UK HPA named it the London1 novel CoV/2012 and produced the virus' preliminary phylogenetic tree, the genetic sequence of the virus[20] based on the virus's RNA obtained from the Qatari case.[10][104]
On 25 September 2012, the WHO announced that it was "engaged in further characterizing the novel coronavirus" and that it had "immediately alerted all its Member States about the virus and has been leading the coordination and providing guidance to health authorities and technical health agencies".[105] The Erasmus Medical Center (EMC) in Rotterdam "tested, sequenced and identified" a sample provided to EMC virologist Ron Fouchier by Ali Mohamed Zaki in November 2012.[17]
On 8 November 2012, in an article published in the New England Journal of Medicine, Dr. Zaki and co-authors from the Erasmus Medical Center published more details, including a tentative name, Human Coronavirus-Erasmus Medical Center (HCoV-EMC), the virus's genetic makeup, and closest relatives (including SARS).[9]
In May 2013, the Coronavirus Study Group of the International Committee on Taxonomy of Viruses adopted the official designation, the Middle East Respiratory Syndrome Coronavirus (MERS-CoV), which was adopted by WHO to "provide uniformity and facilitate communication about the disease".[106] Prior to the designation, WHO had used the non-specific designation 'Novel coronavirus 2012' or simply 'the novel coronavirus'.[107]
## Research[edit]
When rhesus macaques were given interferon-α2b and ribavirin and exposed to MERS, they developed less pneumonia than control animals.[108] Five critically ill people with MERS in Saudi Arabia with acute respiratory distress syndrome (ARDS) and on ventilators were given interferon-α2b and ribavirin but all ended up dying of the disease. The treatment was started late in their disease (a mean of 19 days after hospital admission) and they had already failed trials of steroids so it remains to be seen whether it may have benefit earlier in the course of disease.[109][110] Another proposed therapy is inhibition of viral protease[111] or kinase enzymes.[112]
Researchers are investigating a number of medications, including using interferon, chloroquine, chlorpromazine, loperamide, lopinavir,[113] remdesivir and galidesivir as well as other agents such as mycophenolic acid,[114][115] camostat[116][117] and nitazoxanide.[118][119]
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## External links[edit]
Classification
D
* ICD-10: B34.2
* ICD-9-CM: 78.89, 480.9
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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
|
Middle East respiratory syndrome
|
c3694279
| 25,475 |
wikipedia
|
https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome
| 2021-01-18T18:48:55 |
{"mesh": ["D018352"], "umls": ["C3694279"], "icd-10": ["B34.2"], "wikidata": ["Q16654806"]}
|
1q21.1 duplication syndrome
Other names1q21.1 (recurrent) microduplication
1q21.1 duplication syndrome is inherited in an autosomal dominant manner
SpecialtyMedical genetics
1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.
In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the duplication is situated.
Next to the duplication syndrome, there is also a 1q21.1 deletion syndrome. While there are two or three copies of a similar part of the DNA on a particular spot with the duplication syndrome, there is a part of the DNA missing with the deletion syndrome on the same spot. Literature refers to both the deletion and the duplication as the 1q21.1 copy-number variations (CNV).
The CNV leads to a very variable phenotype and the manifestations in individuals are quite variable. Some people who have the syndrome can function in a normal way, while others have symptoms of developmental delays and various physical anomalies.
## Contents
* 1 Symptoms
* 2 Cause
* 3 Structure of 1q21.1
* 4 Related genes
* 5 Diagnostics
* 6 Research
* 7 References
* 8 Further reading
* 9 External links
## Symptoms[edit]
Currently recognized symptoms include:[citation needed]
* Autism or autistic behaviors
* ADHD
* Learning disability
* Large head
* Dysmorphic facial appearance - mild
* Prominent forehead
* Wide-set eyes (hypertelorism)
* Loose joints
* GERD
* Sleep disturbances
* Sleep Apnea
* Underdeveloped parts of brain - corpus callosum and cerebellar vermis
* Speech & developmental delays
* Chiari malformation of the brain
* Congenital heart defects
* Hypotonia
It is not clear whether the list of symptoms is complete. Very little information is known about the syndrome. The symptomology may be different among individuals, even in the same family.[citation needed]
## Cause[edit]
Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair goes to one daughter cell. In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after being randomized. Which information of the parent cell ends up in the daughter cell is purely decided by chance. Besides this random process, there is a second random process. In this second random process the DNA will be scrambled in a way that pieces are omitted (deletion), added (duplication), moved from one place to another (translocation) and inverted (inversion). This is a common process, which leads to about 0.4% variation in the DNA. It explains why even identical twins are not genetically 100% identical.[citation needed]
The second random process can give rise to genetic mistakes. In the deletion and duplication process, the chromosomes that come together in a new cell may be shorter or longer. The result of this spontaneous change in the structure of DNA is a copy number variation. Due to the copy number variation chromosomes of different sizes can be combined in a new cell. If this occurs around conception, there is the first cell of a human with a genetic variation. This can be either positive or negative. In positive cases this new human will be capable of a special skill that is assessed positively, for example, sports or science. In negative cases, you have to deal with a syndrome or a severe disability, as in this case the 1q21.1 duplication syndrome.[citation needed]
Based on the meiotic process, the syndrome may occur in two ways.
* 1\. a spontaneous deviation (a 'novo' the situation): two chromosomes come together of which one has a copy number variation as a result of the meiosis process.
* 2\. a parent is unknowingly carrier of a chromosome with a copy number variation and passes itthrough at conception to the child, with different consequences for the child.
Due to this genetic misprint the embryo may experience problems in the development during the first months of pregnancy. Approximately 20 to 40 days after fertilization, something goes wrong in the construction of the body parts and brain, which leads to a chain reaction.[1]
## Structure of 1q21.1[edit]
The structure of 1q21.1
The structure of 1q21.1 is complex. The area has a size of approximately 6 Megabase (Mb) (from 141.5 Mb to 147.9 Mb). Within 1q21.1 there are two areas where a duplication or deletion can be found: the TAR-area for the TAR syndrome and the distal area for other anomalies. The 1q21.1 duplication syndrome will commonly be found in the distal area, but an overlap with the TAR-area is possible. 1q21.1 has multiple repetitions of the same structure (areas with the same color in the picture have equal structures) Only 25% of the structure is unique. There are several gaps in the sequence. There is no further information available about the DNA-sequence in those areas up till now. The gaps represent approximately 700 Kilobase. New genes are expected in the gaps. Because the gaps are still a topic of research, it is hard to find the exact start and end markers of a deletion. The area of 1q21.1 is one of the most difficult parts of the human genome to map.[citation needed]
## Related genes[edit]
Genes related to 1q21.1 deletion in the TAR area are HFE2, TXNIP, POLR3GL, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, and GPR89A[citation needed]
Genes related to 1q21.1 deletion in the distal area are HYDIN2, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, and GPR89B.[citation needed]
## Diagnostics[edit]
A 'de novo'-situation appears in about 75% of the cases. In 25% of the cases, one of the parents is carrier of the syndrome, without any effect on the parent. Sometimes adults have mild problems with the syndrome. To find out whether either of the parents carries the syndrome, both parents have to be tested. In several cases, the syndrome was identified with the child, because of an autism disorder or another problem, and later it appeared that the parent was affected as well. The parent never knew about it until the moment that the DNA-test proved the parent to be a carrier.[citation needed]
In families where both parents have been tested negative on the syndrome, chances on a second child with the syndrome are extremely low. If the syndrome was found in the family, chances on a second child with the syndrome are 50%, because the syndrome is autosomal dominant. The effect of the syndrome on the child cannot be predicted.[citation needed]
The syndrome can be detected with fluorescence in situ hybridization and Affymetrix GeneChip Operating Software.For parents with a child with the syndrome, it is advisable to consult a physician before a next pregnancy and to do prenatal screening.[citation needed]
## Research[edit]
Several researchers around the world are studying on the subject of 1q21.1 duplication syndrome. The syndrome was identified for the first time in people with heart abnormalities. The syndrome was later observed in patients who had autism or schizophrenia.[citation needed]
It appears that there is a relation between autism and schizophrenia. Literature shows that nine locations have been found on the DNA where the syndromes related to autism or schizophrenia can be found, the so-called "hotspots": 1q21.1, 3q29, 15q13.3, 16p11.2, 16p13.1, 16q21, 17p12, 21q11.2 and 21q13.3. With a number of hotspots, either autism and schizophrenia were observed depending on the copy-number variation (CNV) at that location.
Statistical research showed that schizophrenia is significantly more common in combination with 1q21.1 deletion syndrome. On the other side, autism is significantly more common with 1q21.1 duplication syndrome. Similar observations were done for chromosome 16 on 16p11.2 (deletion: autism/duplication: schizophrenia), chromosome 22 on 22q11.21 (deletion (Velo-cardio-facial syndrome): schizophrenia/duplication: autism) and 22q13.3 (deletion (Phelan-McDermid syndrome): schizophrenia/duplication: autism). Further research confirmed that the odds on a relation between schizophrenia and deletions at 1q21.1, 3q29, 15q13.3, 22q11.21 en Neurexin 1 (NRXN1) and duplications at 16p11.2 are at 7.5% or higher.[2][3]
Observed relation within 1q21.1
Common variations in the BCL9 gene, which is in the distal area, confer risk of schizophrenia and may also be associated with bipolar disorder and major depressive disorder.[4]
Research is done on 10-12 genes on 1q21.1 that produce DUF1220-locations. DUF1220 is an unknown protein, which is active in the neurons of the brain near the neocortex. Based on research on apes and other mammals, it is assumed that DUF1220 is related to cognitive development (man: 212 locations; chimpanzee: 37 locations; monkey: 30 locations; mouse: 1 location). It appears that the DUF1220-locations on 1q21.1 are in areas that are related to the size and the development of the brain. The aspect of the size and development of the brain is related to autism (macrocephaly) and schizophrenia (microcephaly). It is assumed that a deletion or a duplication of a gene that produces DUF1220-areas might cause growth and development disorders in the brain [5]
Another relation between macrocephaly with duplications and microcephaly with deletions has been seen in research on the HYDIN Paralog or HYDIN2. This part of 1q21.1 is involved in the development of the brain. It is assumed to be a dosage-sensitive gene. When this gene is not available in the 1q21.1 area it leads to microcephaly. HYDIN2 is a recent duplication (found only in humans) of the HYDIN gene found on 16q22.2.[6]
GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 tetralogy of Fallot is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.[7]
## References[edit]
1. ^ A. Ploeger; 'Towards an integration of evolutionary psychology and developmental science: New insights from evolutionary developmental biology'
2. ^ Levinson DF, Duan J, Oh S, et al. (March 2011). "Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications". Am J Psychiatry. 168 (3): 302–16. doi:10.1176/appi.ajp.2010.10060876. PMC 4441324. PMID 21285140.
3. ^ Ikeda M, Aleksic B, Kirov G, et al. (February 2010). "Copy number variation in schizophrenia in the Japanese population". Biol. Psychiatry. 67 (3): 283–6. doi:10.1016/j.biopsych.2009.08.034. PMID 19880096.
4. ^ Li J, Zhou G, Ji W, et al. (March 2011). "Common variants in the BCL9 gene conferring risk of schizophrenia". Arch. Gen. Psychiatry. 68 (3): 232–40. doi:10.1001/archgenpsychiatry.2011.1. PMID 21383261. Archived from the original on 2012-03-22. Retrieved 2011-12-12.
5. ^ Dumas L, Sikela JM (2009). "DUF1220 domains, cognitive disease, and human brain evolution". Cold Spring Harb. Symp. Quant. Biol. 74: 375–82. doi:10.1101/sqb.2009.74.025. PMC 2902282. PMID 19850849.
6. ^ Doggett NA, Xie G, Meincke LJ, et al. (Dec 2006). "A 360-kb interchromosomal duplication of the human HYDIN locus". Genomics. 88 (6): 762–71. doi:10.1016/j.ygeno.2006.07.012. PMID 16938426.
7. ^ Soemedi, R.; et al. (2011). "Phenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls". Hum. Mol. Genet. 21 (7): 1513–1520. doi:10.1093/hmg/ddr589. PMC 3298277. PMID 22199024.
## Further reading[edit]
* Mefford HC, Sharp AJ, Baker C, et al. (October 2008). "Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes". N. Engl. J. Med. 359 (16): 1685–99. doi:10.1056/NEJMoa0805384. PMC 2703742. PMID 18784092.
* Brunetti-Pierri N, Berg JS, Scaglia F, et al. (December 2008). "Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities". Nat. Genet. 40 (12): 1466–71. doi:10.1038/ng.279. PMC 2680128. PMID 19029900.
* Crespi B, Stead P, Elliot M (January 2010). "Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia". Proc. Natl. Acad. Sci. U.S.A. 107 (Suppl 1): 1736–41. doi:10.1073/pnas.0906080106. PMC 2868282. PMID 19955444.
## External links[edit]
Classification
D
* OMIM: 612475
* MeSH: C567290
* 1q21.1 microduplications
* DECIPHER database entry for 1q21.1 duplication syndrome
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
1q21.1 duplication syndrome
|
c2675891
| 25,476 |
wikipedia
|
https://en.wikipedia.org/wiki/1q21.1_duplication_syndrome
| 2021-01-18T18:52:50 |
{"gard": ["10591"], "mesh": ["C567290"], "umls": ["C2675891"], "orphanet": ["250994"], "wikidata": ["Q2692054"]}
|
A number sign (#) is used with this entry because antenatal Bartter syndrome type 2 (BARTS2) is caused by homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1; 600359) on chromosome 11q24.
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Clinical Features
The antenatal form of Bartter syndrome is a life-threatening disorder in which both renal tubular hypokalemic alkalosis and profound systemic symptoms are manifest (Seyberth et al., 1985; Deschenes et al., 1993; Proesmans et al., 1985). The abnormalities begin in utero with marked fetal polyuria that leads to polyhydramnios between 24 and 30 weeks of gestation and, typically, premature delivery (Ohlsson et al., 1984). The amniotic fluid contains high chloride levels but normal concentrations of sodium, potassium, calcium, and prostaglandin E2. Affected neonates have severe salt wasting and hyposthenuria, moderate hypokalemic metabolic alkalosis, hyperprostaglandinuria, and failure to thrive. The International Collaborative Study Group for Bartter-like Syndromes (1997) noted that an essential manifestation of the antenatal variant is marked hypercalciuria, and as a secondary consequence, affected infants develop nephrocalcinosis and osteopenia.
Peters et al. (2002) found that 9 of 14 patients with antenatal Bartter syndrome caused by mutations in the ROMK gene developed transient hyperkalemia within the first month of life, which was in contrast to those patients with NKCC2 mutations. The phenotype in the ROMK patients resembled the clinical picture of pseudohypoaldosteronism type I (264350). Finer et al. (2003) reported 12 infants with mutations in the ROMK gene, affecting all 3 protein isoforms, who showed transient hyperkalemia as high as 9.0 mmol/L without acidosis within the first few weeks of life. Two patients developed ventricular arrhythmias and 1 patient died while hyperkalemic at age 8 days. The authors suggested that postnatal maturation of potassium-regulating mechanisms, including Na-K-ATPase, may explain the transient nature of the hyperkalemia. By functional analysis of channel conductance defects caused by different ROMK mutations, Jeck et al. (2001) suggested that patients with mutations that affect all 3 ROMK isoforms may show transient neonatal hyperkalemia, most likely due to defects affecting the cortical collecting duct.
Fever, vomiting, and occasional diarrhea associated with the antenatal Bartter syndrome have been attributed to the stimulation of renal and systemic prostaglandin E2 activity in affected infants; these symptoms are effectively treated with inhibitors of prostaglandin synthesis. Based on these clinical features, the antenatal form of Bartter syndrome has been referred to as the hyperprostaglandin E syndrome (Seyberth et al., 1987).
Fellman et al. (1996) described an infant with severe hyperprostaglandin E syndrome in whom hyperthyroidism was diagnosed at the age of 12 weeks. The hyperthyroidism was thought to have been induced by PGE2. The PGE2 stimulus was also thought to explain the recurrent acute crises of polyuria, dehydration, fever, and diarrhea in this patient. They considered the extensive and abnormal crying of the patient to be an indicator of pain caused by endogenous PGE2, since it could be abolished with indomethacin or a very high dose of fentanyl.
There may be a form of hyperprostaglandin E syndrome that is separate from the antenatal Bartter syndrome due to mutation of the SLC12A1 or KCNJ1 gene. Kockerling et al. (1996) stated that hyperprostaglandin E syndrome is characterized by its severe prenatal manifestation, leading to fetal polyuria, development of polyhydramnios, and premature birth. The disorder mimics furosemide treatment with hypokalemic alkalosis, hypochloremia, isosthenuria, and impaired renal conservation of both calcium and magnesium. Therefore, the thick ascending limb of the loop of Henle seems to be involved in the disorder. Kockerling et al. (1996) demonstrated that sensitivity to furosemide is completely maintained in patients with Bartter syndrome and Gitelman syndrome. The diuretic, saluretic, and hormonal responses were similar to those of the control group of healthy children, indicating an intact function of the thick ascending limb of the loop of Henle in BS/GS. In contrast, however, patients with hyperprostaglandin E syndrome had a marked resistance to this loop diuretic. The authors concluded that a defect in electrolyte reabsorption in the thick ascending limb of the loop of Henle plays a major role in hyperprostaglandin E syndrome.
Diagnosis
### Prenatal Diagnosis
For prenatal diagnosis, Matsushita et al. (1999) conducted biochemical examinations of both amniotic fluid and the mother's urine. Except for potassium, amniotic fluid electrolytes in a mother with a fetus with Bartter syndrome were high. Urinary chloride, sodium, and calcium were very low. The authors suggested that the latter parameters may allow prediction of fetal Bartter syndrome during the prenatal period.
Konrad et al. (1999) reviewed the clinical and laboratory findings during pregnancy and the neonatal period in 2 sibs affected with the hyperprostaglandin E syndrome. Compound heterozygosity at the KCNJ1 (600359) locus (D74Y/P110L) confirmed the clinical diagnosis of antenatal Bartter syndrome type 2 at 26 weeks of gestation (see MOLECULAR GENETICS).
Clinical Management
In a 26-week-old fetus with a confirmed diagnosis of hyperprostaglandin E syndrome, Konrad et al. (1999) found that indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to his elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. Thus, progression of polyhydramnios with extreme prematurity can be prevented by prenatal therapy; postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion occurs.
Kleta et al. (2000) noted that the clinical problems in patients with Bartter syndrome are to a large extent caused by elevated levels of prostaglandins. Treatment options have included indomethacin, a nonselective cyclooxygenase (COX) inhibitor, but this drug has a broad range of side effects and therefore requires extensive monitoring. Kleta et al. (2000) reported successful results with a selective and specific inhibitor of COX2 (600262). This isoenzyme seems to be responsible for the elevated levels of inducible prostaglandins from the macula densa and the thick ascending limb of the loop of Henle.
Molecular Genetics
The potassium channel gene ROMK (KCNJ1; 600359) is believed to be a regulator of cotransporter activity; it is an ATP-sensitive potassium channel that 'recycles' reabsorbed potassium back to the tubule lumen. In 4 kindreds, Simon et al. (1996) found mutations in the ROMK gene that cosegregated with antenatal Bartter syndrome and disrupted ROMK function (600359.0001-600359.0006). The disorder has since been designated antenatal Bartter syndrome type 2. Thus, antenatal Bartter syndrome is genetically heterogeneous.
The International Collaborative Study Group for Bartter-like Syndromes (1997) reported mutations in the KCNJ1 gene (600359.0007-600359.0009) in 3 kindreds and 5 sporadic cases with antenatal Bartter syndrome type 2. Functional coupling of ROMK and the luminal Na-K-2Cl cotransporter is crucial for NaCl reabsorption. Therefore, loss of function in ROMK, as well as in NKCC2, would be predicted to disrupt electrogenic chloride reabsorption in the medullary thick ascending limb of the loop of Henle.
Using targeted mutations, Lopes et al. (2002) established that mutations in KCNJ1 residues associated with Bartter syndrome decreased the strength of channel interactions with phosphatidylinositol 4,5-bisphosphate (PIP2). They concluded that a decrease in channel-PIP2 interactions underlies the molecular mechanism of Bartter syndrome when these mutations are present in patients.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low birth weight Other \- Failure to thrive HEAD & NECK Head \- Large head Face \- Prominent forehead \- Triangular face Ears \- Large pinnae Eyes \- Large eyes CARDIOVASCULAR Vascular \- Low-to-normal blood pressure ABDOMEN Gastrointestinal \- Constipation \- Vomiting \- Diarrhea GENITOURINARY Kidneys \- Renal salt wasting \- Renal potassium wasting \- Nephrocalcinosis \- Renal juxtaglomerular cell hypertrophy/hyperplasia \- Polyuria SKELETAL \- Osteopenia \- Chondrocalcinosis MUSCLE, SOFT TISSUES \- Generalized weakness \- Muscle cramps \- Tetany NEUROLOGIC Central Nervous System \- Developmental delay \- Mental retardation \- Seizures \- Paresthesias METABOLIC FEATURES \- Dehydration \- Polydipsia \- Hypokalemic metabolic alkalosis \- Fever ENDOCRINE FEATURES \- Hyperactive renin-angiotensin system \- Elevated plasma renin \- Elevated plasma aldosterone HEMATOLOGY \- Platelet aggregation defect PRENATAL MANIFESTATIONS Amniotic Fluid \- Fetal polyuria \- Polyhydramnios \- Elevated chloride levels Delivery \- Premature delivery LABORATORY ABNORMALITIES \- Hypokalemia \- Increased serum prostaglandin E2 \- Hyperprostaglandinuria \- Hypercalciuria \- Occasional hypomagnesemia \- Hypochloremia \- Increased urinary potassium \- Increased urinary chloride \- Hyposthenuria MISCELLANEOUS \- Genetic heterogeneity (see antenatal Bartter syndrome type 1, 601678 ) MOLECULAR BASIS \- Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 1 gene (KCNJ1, 600359.0001 ) ▲ 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
|
BARTTER SYNDROME, TYPE 2, ANTENATAL
|
c0004775
| 25,477 |
omim
|
https://www.omim.org/entry/241200
| 2019-09-22T16:26:35 |
{"doid": ["0110143"], "mesh": ["D001477"], "omim": ["241200", "601678"], "orphanet": ["93604", "112"], "synonyms": ["HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL", "Bartter syndrome, furosemide type", "Bartter syndrome, furosemide-amiloride type", "Hyperprostaglandin E syndrome", "HYPERPROSTAGLANDIN E SYNDROME 2", "Alternative titles"]}
|
## Clinical Features
Frydman et al. (1988) found 'simple hypohidrosis' in a brother and sister born to nonconsanguineous Iranian Jewish parents. Pilocarpine produced little sweating, and external heat and physical effort were associated with elevation of body temperature. Abnormal palmar dermal ridges were considered to be associated with paucity of sweat pores and glands. Biopsy supported this view since only 1 normal sweat gland and duct was found in a 5-mm punch specimen.
Inheritance \- Autosomal recessive Misc \- Fever on exertion Skin \- Hypohidrosis \- Abnormal palmar dermal ridges \- Decreased sweat pores \- Decreased sweat glands ▲ 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
|
HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES
|
c1855856
| 25,478 |
omim
|
https://www.omim.org/entry/241120
| 2019-09-22T16:26:35 |
{"mesh": ["C565481"], "omim": ["241120"], "synonyms": ["Alternative titles", "SWEAT GLAND HYPOPLASIA"]}
|
Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Psoriatic juvenile idiopathic arthritis
|
c1843772
| 25,479 |
gard
|
https://rarediseases.info.nih.gov/diseases/10970/psoriatic-juvenile-idiopathic-arthritis
| 2021-01-18T17:58:04 |
{"omim": ["607507"], "orphanet": ["85436"], "synonyms": ["Juvenile psoriatic arthritis", "Psoriasis-related juvenile idiopathic arthritis", "Psoriasis-related JIA"]}
|
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
## Epidemiology
To date, five patients have been reported in two families.
## Clinical description
Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of 2nd and 3rd toes have also been recorded. All five patients have severe intellectual deficiency.
## Genetic counseling
The condition is probably hereditary, and is transmitted as an autosomal recessive trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Fallot complex-intellectual disability-growth delay syndrome
|
c1832735
| 25,480 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3304
| 2021-01-23T19:04:52 |
{"gard": ["893"], "mesh": ["C536608"], "omim": ["601127"], "umls": ["C1832735"], "icd-10": ["Q87.8"], "synonyms": ["Bindewald-Ulmer-Müller syndrome"]}
|
## Clinical Features
Megarbane et al. (2008) reported 2 Lebanese sibs, offspring of consanguineous parents, with a syndrome consisting of axial hypotonia, developmental delay, dysmorphic facial features (frontal bossing, prominent eyes, slightly downslanting palpebral fissures, hypertelorism, telecanthus, long eyelashes, gum hypertrophy, and pointed chin), short neck, wrinkled skin, abnormal thoracic configuration, hepatosplenomegaly, liver dysfunction, and neonatal spontaneous fractures. Hepatic function, as well as their overall health, deteriorated whenever they had fever. Laboratory tests revealed no other anomalies. The older sib died from liver failure when he was 18 months old. His sister was 15 months old at the time of report.
Inheritance
Megarbane et al. (2008) suggested autosomal recessive inheritance of this disorder based on its occurrence in sibs of healthy, consanguinity parents.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MEGARBANE-JALKH SYNDROME
|
c2748555
| 25,481 |
omim
|
https://www.omim.org/entry/612785
| 2019-09-22T16:00:37 |
{"mesh": ["C548071"], "omim": ["612785"], "synonyms": ["Alternative titles", "DEVELOPMENTAL DELAY, DYSMORPHIC FACIAL FEATURES, NEONATAL SPONTANEOUS FRACTURES, WRINKLED SKIN, AND HEPATIC FAILURE"]}
|
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.
## Epidemiology
The prevalence is unknown.
## Clinical description
This group of diseases has extreme clinical variability ranging from relatively mild infections with bacillus Calmette-Guérin (BCG) and salmonellosis (in IL12B and IL-12RB1 deficiencies) to severe and often fatal infections with BCG and other environmental mycobacteria (complete IFN-gammaR1 and IFN-gammaR2 deficiencies).
## Etiology
Autosomal recessive MSMD due to a complete deficiency is caused by mutations in one of 5 genes: IFNGR1, IFNGR2, IL12B , IL12RB1 and ISG15. Mutations in these genes impair IL-12 dependent IFN-gamma immunity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
|
None
| 25,482 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319535
| 2021-01-23T16:59:39 |
{"icd-10": ["D84.8"], "synonyms": ["Autosomal recessive MSMD due to a complete deficiency"]}
|
Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.
## Epidemiology
Less than 70 cases have been described so far worldwide.
## Clinical description
These cases show a broad variation in severity, ranging from a simple notch in the vermillion to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck, and the manubrium sterni. The tongue is often attached to the cleft alveolar margin (ankyloglossia). In one case, an ectopic salivary gland was found as a mass on the dorsum of the tongue. Other associated anomalies were described in a number of cases: absence or underdevelopment of the hyoid bone and/or thyroid cartilage, widely spaced clavicles, and a midline dermoid in the neck. Associated cardiac defects have been described in two cases: a single ventricle with transposition of the great vessels in one case and a ventricular septal defect in the other.
## Genetic counseling
The only known familial cases were reported in 1936: they belonged to a kindred with 18 affected individuals spanning four generations. This may have been an example of lower lip pits, wrongly described as cleft of the lower lip.
## Management and treatment
The cleft of lower lip may be repaired in one step, but timing of the mandibular reconstruction needs to take into account growth of the mandible and masticatory function. Fixation of the mandible may be performed at the age of 6 years and reconstruction carried out one year later. A successful one-stage repair has been reported and involved reconstructive surgery using autogenous iliac bone and a titanium mesh tray.
## Prognosis
Functional and morphological results are satisfactory four years after 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
|
Median cleft lip/mandibule
|
c4518460
| 25,483 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2006
| 2021-01-23T17:52:06 |
{"icd-10": ["Q36.1"], "synonyms": ["Median cleft lower facial stage"]}
|
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
In a large genomewide association study (GWAS) of prostate cancer, Thomas et al. (2008) detected a single-nucleotide polymorphism (SNP) on chromosome 11q13, rs10896449, the G allele of which was significantly associated with prostate cancer risk (p = 1.76 x 10(-9)). The rs10896449 SNP is located 67 kb upstream of a gene overexpressed in myeloma, MYEOV (605625).
Eeles et al. (2008) conducted a genomewide association study (GWAS) using blood DNA samples from 1,854 individuals with clinically detected prostate cancer diagnosed at or before the age of 60 years or with a family history of disease, and 1,894 population-screened controls with a low prostate-specific antigen (PSA) concentration (less than 0.5 ng/ml). They analyzed these samples for 541,129 SNPs using the Illumina Infinium platform. Initial putative associations were confirmed using a further 3,268 cases and 3,366 controls. Eeles et al. (2008) identified a SNP on chromosome 11, rs7931342, that was significantly associated with prostate cancer risk (p = 1.7 x 10(-12)). They described the region on chromosome 11 in which the SNP rs7931342 is located as 'a gene desert.'
In a prostate cancer genomewide association follow-up study, Gudmundsson et al. (2009) refined a previous association signal on 11q13 with rs11228565A (odds ratio = 1.23, p = 6.7 x 10(-12)). In a multivariate analysis using 22 prostate cancer risk variants typed in the Icelandic population, Gudmundsson et al. (2009) estimated that carriers in the top 1.3% of the risk distribution are at 2.5 times greater risk of developing the disease than members of the general population.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
PROSTATE CANCER, HEREDITARY, 14
|
c2931456
| 25,484 |
omim
|
https://www.omim.org/entry/611958
| 2019-09-22T16:02:34 |
{"doid": ["10283"], "mesh": ["C537243"], "omim": ["611958"], "orphanet": ["1331"]}
|
Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hemimegalencephaly
|
c0431391
| 25,485 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99802
| 2021-01-23T18:18:55 |
{"gard": ["2637"], "mesh": ["D065705"], "umls": ["C0431391"], "icd-10": ["Q04.5"], "synonyms": ["Unilateral megalencephaly"]}
|
## Cloning and Expression
Using a subtractive hybridization strategy, Higashide et al. (1996) identified a retina-specific cDNA that they designated HRG4 (human retinal gene-4). Northern blot analysis revealed that the approximately 1.4-kb HRG4 mRNA is expressed specifically in human retina. The authors also cloned a cDNA encoding RRG4, the rat HRG4 homolog. The predicted 240-amino acid human and rat proteins both contain an N-terminal region rich in proline and glycine followed by a region with a mixture of alpha helices, beta sheets, and turns. Sequence comparisons indicated that the proline-glycine domains of RRG4 and HRG4 share only 67% homology, while the rest of the sequence is 100% identical. By in situ hybridization, Higashide et al. (1996) demonstrated that the HRG4 gene is expressed specifically in photoreceptors, both rods and cones, in human retina. In rat, the authors observed high levels of RRG4 expression in the outer retina beginning around postnatal day 5, when the photoreceptors begin to differentiate, and expression increased rapidly to reach the adult level by postnatal day 23.
Swanson et al. (1998) found evidence of alternative splicing of human and bovine UNC119 mRNA, but not of mouse Unc119 mRNA. Northern blot and RT-PCR analyses revealed that the UNC119 gene is expressed at low levels in nonretinal tissues.
Using a yeast 2-hybrid screen to identify proteins that interact with IL5RA (147851), Cen et al. (2003) cloned UNC119 from a fetal liver cDNA library. Western blot analysis showed expression of a 37-kD UNC119 protein in eosinophils and mononuclear cells.
By Western blot analysis, Gorska et al. (2004) showed that UNC119 was expressed in T cells.
Rainy et al. (2016) identified 4 UNC119 paralogs in the zebrafish genome. Based on sequence similarity, unc119a and unc119b are orthologs of mammalian UNC119 and UNC119B, respectively. Zebrafish unc119c is distinct and is not present in mammals. In situ hybridization revealed ubiquitous expression of unc119a and unc119b throughout zebrafish central nervous system. In contrast, unc119c was specifically expressed in retina and pineal gland.
Gene Structure
Swanson et al. (1998) reported that the UNC119 gene contains at least 5 exons and spans 8 kb.
Mapping
By analysis of somatic cell hybrids and FISH, Swanson et al. (1998) mapped the UNC119 gene to 17q11.2. Higashide and Inana (1999) confirmed this localization by somatic cell hybrid analysis.
Gene Function
Mutations in the C. elegans unc119 gene lead to defects in locomotion, feeding behavior, and chemosensation. Both Swanson et al. (1998) and Higashide et al. (1998) observed that HRG4 shares strong homology with the C. elegans unc119 protein, leading Swanson et al. (1998) to designate the human protein UNC119. Swanson et al. (1998) stated that a human UNC119 cDNA functionally complemented the C. elegans unc119 mutation. Using immunofluorescence, Higashide et al. (1998) localized HRG4 to the outer plexiform layer of the retina in the synaptic termini of rod and cone photoreceptors. Electron microscopic immunolocalization showed that the protein is present in the cytoplasm and on the presynaptic membranes of the photoreceptor synapses. The authors suggested that HRG4 may play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. They noted that the homology of HRG4 and unc119 is consistent with a possible role of HRG4 in the synaptic vesicle cycle, because the broad effects of unc119 on neuronal function are consistent with a defect in neurotransmission.
Cen et al. (2003) confirmed that UNC119 interacts with IL5RA in eosinophils by coimmunoprecipitation experiments. They found that UNC119 also interacts, through its C- and N-terminal motifs, respectively, with the SH2 and SH3 domains of Src family kinases, such as LYN (165120) and HCK (142370), thereby inducing catalytic activity of the kinases. Eosinophils transduced with UNC119 had increased LYN activity and demonstrated prolonged survival in the absence of growth factors such as IL5 (147850). UNC119 inhibition reduced eosinophil survival.
Using coprecipitation and GST pull-down analysis, Gorska et al. (2004) found that UNC119 interacted with T-cell receptor (TCR; see CD3E; 186830), as well with LCK and FYN (137025). Fluorescent microscopy demonstrated cytoplasmic expression with translocation to the CD3/CD4 (186940) complex upon stimulation. LCK and FYN were activated by either exogenous UNC119 or by overexpression of UNC119. Activation required the presence of the UNC119 SH3-binding motif. Treatment of T cells with UNC119 antisense constructs blocked LCK and FYN activation and, like LCK antisense, blocked TCR signaling pathways. Gorska et al. (2004) concluded that UNC119 is a receptor-associated activator of Src-type kinases.
Using yeast 2-hybrid analysis of a retina cDNA library, Kobayashi et al. (2003) identified ARL2 (601175) as a tissue-specific interactor for HRG4. Western blot analysis and immunofluorescence microscopy showed colocalization of Arl2 and Hrg4 in rat retina.
Veltel et al. (2008) found that recombinant human GTPase-activating protein RP2 (300757) formed a complex with HRG4 and murine Arl3 (604695), a small GTPase. RP2-induced hydrolysis of Arl3-GTP in the Arl3-HRG4 complex led to the release of HRG4, which bound only weakly to Arl3-GDP.
Using immunofluorescence and Western blot analyses of mouse and rat retina cross-sections, Sinha et al. (2013) found that Unc119 localized predominantly to rod inner segments under all levels of illumination. In contrast, with illumination, the majority of rod transducin alpha subunit (GNAT1; 139330) translocated from the rod outer segment to other rod cellular compartments, where it colocalized with Unc119. Western blot analysis showed that mouse retina contained an approximately 1 to 4 molar ratio of Unc119 to Gnat1. Analysis of Gnat1 -/- mouse retina revealed that expression of the Unc119 and Gnat1 proteins was codependent, suggesting that Gnat1 interacts with Unc119 to stabilize it via complex formation.
Biochemical Features
Cheguru et al. (2015) examined the solution structure of the complex formed by myristoylated chimeric GNAT1 and amino acids 50 to 240 of UNC119. They found that upon binding of GNAT1 to UNC119, the N-terminal alpha helix of GNAT1 rotated 45 degrees at the hinge residues 27 to 29 and bent around residues 8 to 9. The analysis also suggested the involvement of a novel interaction interface between the 2 proteins. The effector binding site of GNAT1 was occluded in the complex with UNC119.
Molecular Genetics
Kobayashi et al. (2000) reported that a heterozygous premature termination codon mutation (604011.0001) in the UNC119 gene resulted in late-onset cone-rod dystrophy. In transgenic mice carrying the same mutation, they found age-dependent fundus lesions with accompanying electroretinographic (ERG) changes consistent with defects in photoreceptor synaptic transmission (depressed b-wave, normal c-wave) and retinal degeneration with marked synaptic and possible transsynaptic degeneration.
In a 32-year-old woman, 1 of 3 patients with CD4 lymphopenia in whom known causes had been excluded (IMD13; 615518), Gorska and Alam (2012) identified a missense mutation (G22V; 604011.0002). Noting that a mutation in a different region of UNC119 had been reported in a patient with onset of retinal dystrophy at 40 years of age (604011.0001; Kobayashi et al., 2000), Gorska and Alam (2012) stated that while the immunodeficient patient had no current vision problems, the possibility of future retinopathy could not be excluded.
Animal Model
Kubota et al. (2002) found that expression of a mutant HRG4 protein in the photoreceptor synapses of their transgenic mouse model had intrasynaptic and transsynaptic effects. They noted a decrease in 3 synaptic vesicle proteins, an increase in 5 cytoplasmic and plasma membrane proteins, and a significant reduction in thickness in the inner plexiform layer. These data supported a close relationship of HRG4 with other participants in synaptic vesicle function but noted that the interaction was not mediated by a direct coupling of HRG4 with any of the tested synaptic proteins, but possibly through interaction with a 23-kD protein.
Rainy et al. (2016) found that zebrafish unc119c interacted with arl3l2, which also localized to pineal gland and retina. Knockdown of unc119c and arl3l2 in zebrafish larvae resulted in significantly impaired vision compared with controls. Immunohistologic analysis showed that knockdown of unc119c led to mistrafficking of cone transducin (see 139340), resulting in photoreceptor degeneration.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
UNC119 LIPID-BINDING CHAPERONE
|
c4085590
| 25,486 |
omim
|
https://www.omim.org/entry/604011
| 2019-09-22T16:12:32 |
{"mesh": ["D000071700"], "omim": ["604011"], "synonyms": ["Alternative titles", "UNC119, C. ELEGANS, HOMOLOG OF", "HUMAN RETINAL GENE 4"]}
|
A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.
## Epidemiology
Primary biliary cholangitis (PBC) incidence rates range from 0.33 to 5.8 per 100,000 inhabitants/year and prevalence rates range from 1.91 to 40.2 per 100,000 inhabitants Women are predominantly affected with a sex ratio of 9:1.
## Clinical description
Onset is generally in the 4th to 6th decades of life. Many patients are asymptomatic at diagnosis and are identified incidentally. The initial presenting manifestations include fatigue (80%) and pruritus (20-70%), both of which fluctuate throughout the disease course. Pruritus is prominently on the palms and soles with worsening at night and can have significant impact on quality of life (occupational ability, depression, obsessive-compulsive disorder). Right upper quadrant discomfort is found less commonly. In late stages, xanthomas and xanthelasmas may develop. Osteopenia and osteoporosis with a risk of fractures are also found, along with hyperlipidemia, hypercholesterolemia, and vitamin deficiencies (vitamin A, D and rarely E). Complications related to cirrhosis include portal hypertension (with spider nevi, hyperpigmentation, palmar erythema, ascites, intra-abdominal varices), splenomegaly, muscle wasting, peripheral edema, and hepatocellular carcinoma. Neurological complications include impaired concentration and memory and disturbed sleep. Concomitant autoimmune disorders are common and include Sjögren's syndrome, CREST syndrome, autoimmune thyroid disease, rheumatoid arthritis and Raynaud syndrome, and often correlate with the autonomic dysfunction observed.
## Etiology
The liver damage is due to T-cell-mediated destruction of small bile duct epithelial cells causing ductopenia and persistent cholestasis. The exact etiology is currently unknown; however, it is currently believed to involve a combination of environmental factors (e.g. toxins, chemical substances, smoking and infectious agents), genetic predisposition and loss of immune tolerance.
## Diagnostic methods
In adult patients with cholestasis (elevated alkaline phosphatase (ALP) and/or gammaglutamyltransferase (GGT), PBC can be suspected after excluding obstructive jaundice by abdominal ultrasound and systemic diseases. Diagnosis can be made when disease-specific autoantibodies are detected (i.e. antimitochondrial autoantibodies (AMA titer>1:40) and anti-nuclear autoantibodies (ANA) anti-sp100 and anti-gp210). When PBC-specific antibodies are absent, coexistent autoimmune hepatitis (AIH) or non-alcoholic steatohepatitis (NASH) is suspected, or other (usually systemic) co-morbidities are present, and thus liver biopsy is recommended.
## Differential diagnosis
Differential diagnoses include autoimmune hepatitis, primary sclerosing cholangitis, alcoholic and non-alcoholic steatohepatitis and drug-induced hepatotoxicity.
## Genetic counseling
Whilst a causal gene has not been identified, first-degree relatives have a higher risk of developing the disease.
## Management and treatment
The aim of treatment is to reduce symptoms and slow disease progression. Ursodeoxycholic acid (UDCA) at dosage of 13-15 mg/kg/day is highly effective in improving transplant-free survival, although has limited effect in treating fatigue and pruritus. In patients with inadequate response (25%‐40%), obeticholic acid should be added. Response to UDCA is evaluated, after a period of 6 to 24 months of treatment, based on changes in bilirubin, transaminases and ALP. Patients with advanced disease should be screened for hepatocellular carcinoma, esophageal varices and considered for liver transplant (LT). Cholestyramine is the first line treatment for pruritus; for intolerant or refractory patients rifampin is indicated.
## Prognosis
LT-free survival of patients with normal or near-normal liver biochemistry on UDCA is similar to that of the general population, whereas it is significantly reduced in those with abnormal liver biochemistry on treatment. After liver transplant, the recurrence of disease rate may be as high as 18 percent at five years, and up to 30 percent at 10 years. There is no consensus on risk factors for recurrence of the disease. HCC is infrequent in PBC; however, lack of UDCA-response after 12 months of therapy and male sex are associated with increased risk of developing HCC.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
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*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
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*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Primary biliary cholangitis
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c0008312
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orphanet
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https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=186
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Childhood leukemia
Two girls with acute lymphocytic leukemia demonstrating intravenous access for chemotherapy.
Childhood leukemia is leukemia that occurs in a child and is a type of childhood cancer. Childhood leukemia is the most common childhood cancer, accounting for 29% of cancers in children aged 0–14 in 2018.[1] There are multiple forms of leukemia that occur in children, the most common being acute lymphoblastic leukemia (ALL) followed by acute myeloid leukemia (AML).[2] Survival rates vary depending on the type of leukemia, but may be as high as 90% in ALL.[3]
Leukemia is a hematological malignancy or a cancer of the blood. It develops in the bone marrow, the soft inner part of bones where new blood cells are made. When a child has leukemia, the bone marrow produces white blood cells that do not mature correctly. Normal healthy cells only reproduce when there is enough space for them. The body will regulate the production of cells by sending signals of when to stop production. When a child has leukemia, the cells do not respond to the signals telling them when to stop and when to produce cells. The bone marrow becomes crowded resulting in problems producing other blood cells.[4][5]
Common childhood leukemia signs and symptoms include excessive tiredness, easy bruising or bleeding, bone pain and paleness.[6]
## Contents
* 1 Types
* 1.1 Acute lymphoblastic
* 1.2 Acute myelogenous
* 1.3 Acute promyelocytic
* 1.4 Chronic myelogenous
* 1.5 Juvenile myelomonocytic
* 2 Signs and symptoms
* 3 Causes
* 4 Diagnosis
* 5 Treatment
* 5.1 Types
* 5.2 ALL
* 5.3 AML
* 5.4 Other childhood leukemias
* 6 Prognosis
* 6.1 ALL
* 6.2 AML
* 6.3 After effects
* 7 Epidemiology
* 8 References
* 9 Further reading
## Types[edit]
Leukemia is usually described either as "acute", which grows quickly, or "chronic", which grows slowly. The vast majority of childhood leukemia is acute, and chronic leukemias are more common in adults than in children. Acute leukemias typically develop and worsen quickly (over periods of days to weeks). Chronic leukemias develop over a slower period of time (months), but are more difficult to treat than acute leukemias.[2][5] The following are some of the main types of leukemia that occur in children.
### Acute lymphoblastic[edit]
The most common form childhood leukemia is acute lymphocytic (or lymphoblastic) leukemia (ALL), which makes up 75-80% of childhood leukemia diagnoses.[7][2] ALL is a form of leukemia that affects lymphocytes, a type of white blood cells which fights infection. When a patient has ALL, the bone marrow makes too many immature white blood cells and they do not mature correctly. These white blood cells also do not work correctly to fight infection. The white blood cells over-produce, crowding the other blood cells in the bone marrow.[5][3]
### Acute myelogenous[edit]
Another type of acute leukemia is acute myelogenous leukemia (AML). AML accounts for most of the remaining cases of leukemia in children, comprising about 20% of childhood leukemia.[7] AML is cancer of the blood in which too many myeloblasts (immature white blood cells) are produced in the bone marrow. The marrow continues to produce abnormal cells that crowd the other blood cells and do not work properly to fight infection.[4]
### Acute promyelocytic[edit]
Acute promyelocytic leukemia (APL) is a specific type of AML. In this leukemia promyelocytes are produced and build up in the bone marrow. A specific chromosome translocation (a type of genetic change) is found in patients with APL. Genes on chromosome 15 change places with genes on chromosome 17. This genetic change prevents the promyelocytes from maturing properly.[4]
### Chronic myelogenous[edit]
Chronic myelogenous leukemia (CML) is a chronic leukemia that develops slowly, over months to years. CML is rare in children, but does occur.[7] CML patients have too many immature white blood cells being produced, and the cells crowd the other healthy blood cells. A chromosome translocation occurs in patients with CML. Part of chromosome 9 breaks off and attaches itself to chromosome 22, facilitating exchange of genetic material between chromosomes 9 and 22. The rearrangement of the chromosomes changes the positions and functions of certain genes, which causes uncontrolled cell growth.[4]
Chronic lymphocytic leukemia (CLL) is another form of chronic leukemia, but is extremely rare in children.[2]
### Juvenile myelomonocytic[edit]
Juvenile myelomonocytic leukemia (JMML) is a form of leukemia in which myelomonocytic cells are overproduced. It is sometimes considered a myeloproliferative neoplasm. It is rare and most commonly occurs in children under the age of four. In JMML, the myelomonocytic cells produced by the bone marrow and invade the spleen, lungs, and intestines.[8][9]
## Signs and symptoms[edit]
Most initial symptoms of leukemia are related to problems with the bone-marrow function. There are a variety of symptoms that children may experience. The symptoms tend to appear quickly in acute leukemia and slowly over time in chronic leukemia.[1] Symptoms in the different types of childhood leukemia include:
* feelings of fatigue or weakness
* repetitive infections or fever
* bone and joint pain
* refusing to walk, which likely results from bone pain or fatigue
* easy bleeding or bruising (including petechiae)
* increased paleness of skin
* abdominal pain or fullness, which may cause shortness of breath or loss of appetite
* swollen lymph nodes under the arms, in the groin, chest and neck.
* enlarged spleen or liver
* weight loss[1][2][3][4][5][6]
* rash[4]
## Causes[edit]
The exact cause of most cases of childhood leukemia is not known.[10] Most children with leukemia do not have any known risk factors.[10]
One hypothesis is that childhood acute lymphoblastic leukemia (ALL) is caused by a two-step process, starting with a prenatal genetic mutation and then exposure to infections[11] While this theory is possible, there is not enough evidence in patients currently to either support or refute the relationship between infection and developing ALL[12]
There is evidence linking maternal alcohol consumption to AML development in children.[13] Indoor insecticide exposure has also been linked to the development of childhood leukemias.[14] High levels of coffee consumption during pregnancy (2-3 cups/day or greater) have been linked to childhood leukemia as well.[15]
It has also been suggested that allergies are linked to the development of childhood leukemia but this is not supported by current evidence.[16]
## Diagnosis[edit]
Childhood leukemia is diagnosed in a variety of ways. The diagnostic procedures confirm if there is leukemia present, the extent of the leukemia (how far it has spread), and the type of leukemia. The diagnostic procedures are similar for the different types of leukemias:
* A bone-marrow aspiration and biopsy to look for and collect leukemia cells. In aspiration, a fluid sample is removed from the marrow. In biopsy, bone marrow cells are removed. Usually both procedures are performed at the same time and used together to help with diagnosis.
* Tests called immunophenotyping and cytogenetic analysis are performed on the cells to further determine the type and subtype of leukemia.
* A complete blood count, which is a measurement of size, number, and maturity of different blood cells in blood.
* Blood tests may include blood chemistry, evaluation of liver and kidney functions, and genetic studies.
* A spinal tap: a special needle is placed into the lower back into the spinal canal, which is the area around the spinal cord. Cerebral spinal fluid is fluid that bathes the child's brain and spinal cord. A small amount of cerebral spinal fluid is sent for testing to determine if leukemia cells are present.[5][17]
## Treatment[edit]
Treatment for childhood leukemia is based on a number of factors, including the type of leukemia, characteristics of the leukemia, prognostic characteristics (children with worse prognostic characteristics receive more aggressive therapy, see Prognosis section), response to therapy, and extent of the disease at diagnosis. Treatment is typically managed by a team of health care professionals, consisting of pediatric oncologists, social workers, pediatric nurse specialists, and pediatricians among others.[5][4]
### Types[edit]
Young girl receiving chemotherapy treatment
While the exact treatment plan is determined by the type of leukemia and factors listed above, there are five types of therapies that are generally used to treat all childhood leukemias. Four of these are standard treatment and one is in clinical trials. The four specific types of treatments that are traditionally used are Chemotherapy, Stem cell transplant, Radiation therapy and Targeted therapy.[3][4][5][18] Immunotherapy is another type of therapy that is currently in clinical trials.[3][5][4]
Chemotherapy is a treatment that uses chemicals to interfere with the cancer cells ability to grow and reproduce. Chemotherapy can be used alone or in combination with other therapies. Chemotherapy can be given either as a pill to swallow orally, an injection into the fat or muscle, through an IV directly into the bloodstream or directly into the spinal column.[5][4][19][20]
Stem cell transplant is a process in which the blood-forming cells that are abnormal (like leukemia cells) or that were destroyed by chemotherapy are replaced with healthy new blood-forming cells. A stem-cell transplant can help the human body produce more healthy white blood cells, red blood cells, or platelets. It also reduces the risk of life-threatening conditions such as anemia, or hemorrhage. Stem cell transplants can be done by obtaining cells from the bone-marrow, blood or umbilical-cord blood. Stem cell transplants can use the cells from one's self, called an autologous stem cell transplant or they can use cells from another person, known as an allogenic stem cell transplant. The type used in childhood leukemia is typically allogenic. The donors used must be a match to the child getting the transplant by a marker called HLA[18][21]
Radiation therapy uses various types of radiation to kill cancer cells.
Targeted therapy is the use of medication to specifically kill the cancerous cells. The medication is able to leave healthy normal cells alone while it targets the cancer.[18] These include tyrosine kinase inhibitors (TKIs), monoclonal antibodies, and proteasome inhibitors.[4][5]
Immunotherapy is a type of therapy that uses the child's own immune system to fight the cancer. This therapy is currently in clinical trials.[3][22]
### ALL[edit]
Treatment for childhood ALL consists of three phases: Induction, Consolidation/Intensification, and Maintenance.[18]
* Induction is intended to kill the large majority of the cancer cells. It typically lasts for 4–6 weeks and uses chemotherapy and glucocorticoids.[3] After induction, the goal is to put the cancer into remission. Remission means that cancer is no longer detected in the bone marrow or blood and that normal cells have returned to the bone marrow.[5] However, remission does not mean that the cancer is cured. It is thought there are still cancer cells that are hiding in the body, so more treatment is needed to kill them.[23]
* Consolidation/Intensification is used to kill any remaining cells that have the potential to become cancerous.[18] It consists of more chemotherapy and lasts for a few months.[3]
* Maintenance is a lower intensity chemotherapy regimen that used to kill any more remaining cells in the bone marrow that could regrow into cancer cells and cause the leukemia to come back. It lasts for 18–30 months.[3][5]
Immunotherapy, radiation therapy, stem cell transplant, and targeted therapies may also be used in the treatment of ALL. This will depend on the extent of ALL, the characteristics of the ALL and if it has recurred (come back after initial treatment).[3][23][22]
### AML[edit]
Childhood AML is a more challenging cancer to treat than childhood ALL. Childhood AML treatment usually consists higher dose chemotherapy given over a shorter period of time compared to ALL treatment. Due to this shorter and more intense treatment, side effects are also more intense. These children are therefore treated in treatment centers or hospitals where they will stay for longer period of their treatment.[24][25] Treatment for AML consists of 2 phases: Induction and Consolidation. There is no Maintenance phase of therapy in AML as it was not shown to lower chances of the cancer coming back.[26]
* Induction is aimed at killing leukemia in the blood and bone marrow. Its goal is to put the cancer into remission. Treatments used in induction therapy for childhood AML may include chemotherapy, targeted therapy, radiation therapy, stem cell transplant, or other treatments as part of a clinical trial. The exact treatment will vary depending on characteristics of the child and the cancer.
* Consolidation begins after remission is obtained and is aimed at killing any remaining cancer cells. It will again vary depending on specifics about the patient and cancer. It typically will consist of chemotherapy followed by a stem cell transplant.
In addition to these treatments, there are also clinical trials of immunotherapy and targeted therapy for AML.[4][24][25][26] The APL type of AML is also treated with all-trans retinoic acid or arsenic trioxide therapy in addition to what is listed above.[4]
### Other childhood leukemias[edit]
JMML is typically treated by chemotherapy followed by a stem cell transplant.[9][8] CML is typically treated with targeted therapy and possibly a stem cell transplant if it comes back or does not respond to the targeted therapy at first.[4]
## Prognosis[edit]
The 5-year survival rate for children with leukemia is 83.6% in the USA. This means that 83.6% of children diagnosed with leukemia live for 5 years or more after their diagnosis. This is greatly improved from a 5-year survival rate of 36.5% in 1975. The improvement is largely attributed to advances in therapy, particularly therapy for ALL.[3][27] The outlook or prognosis for an individual child is affected by the type of leukemia. In addition, there are certain characteristics of the patients and cancers that help doctors predict the prognosis (and determine treatment). These are referred to as prognostic factors. Generally prognostic factors are more meaningful in ALL than in AML.[28]
### ALL[edit]
The 5-year survival rate for children and adolescents under the age of 15 years diagnosed with ALL was 91.8% in the USA between 2007 and 2013. The survival rate for children under the age of 5 years with ALL was 94% during the same time period.[29]
Prognostic factors in ALL:
* Age at diagnosis: Children between the ages of 1–9 years with B-cell ALL (a specific type of ALL) have better cure rates than children less than 1 year old or over 10 years old. This does not seem to matter in T-cell ALL (another specific type of ALL).
* White blood cell count at diagnosis: Children with very high white blood cell counts at diagnosis are higher risk patients than those with lower counts.
* Specific type of ALL
* Spread to other organs (such as the brain, spinal cord, and testicles) signifies worse prognosis
* Chromosome changes: Patients whose leukemia cells have more chromosomes are more likely to be cured. Different chromosome translocations are also associated with different prognoses.
* Initial treatment response: Children who respond to treatment quickly initially have a better prognosis.[5][28]
### AML[edit]
The survival rate for children under the age of 15 years with AML was 66.4% in the USA between 2007 and 2013. This is lower than the rates for ALL.[29]
Prognostic factors for AML:
* Age at diagnosis: Children under 2 years old may have a better prognosis than older children. However, how strong this link is is unclear.
* White blood cell count at diagnosis: Children with lower white blood cell counts tend to have a better prognosis.
* Children with Down Syndrome and AML typically have a good prognosis.
* Specific type of AML: APL generally is a good prognosis.
* Specific chromosome changes affect prognosis.
* AML that started because of treatment for a different cancer usually has poorer prognosis.
* Response to treatment: As with ALL, patients whose disease responds faster to treatment tend to have a better prognosis.
* Children who are a normal weight usually have a better prognosis than those who are overweight or underweight.[4][17][28]
### After effects[edit]
Main article: Cancer survivor
As treatments for childhood leukemias have gotten better, there are more children surviving and living into adulthood. These survivors are at risk for long term after effects of treatment. The specific risks depend on the type of therapy that was given and the type of cancer the child had.[30]
The older aggressive treatment regimens with cranial irradiation and higher doses of anthracyclines (such as doxorubicin) caused increased risk of solid tumors, heart failure, growth retardation, and cognitive defects.[31] In types of childhood leukemias with good cure rates (mainly ALL), efforts are continually made to decrease the amount of toxicity caused by chemotherapy and other treatments.[3]
Secondary cancers
Survivors who received treatment for childhood leukemia are at risk for developing a secondary cancer later in life. The risk of acquiring a second cancer is weighed against the benefit of receiving therapy for life-threatening leukemia.[30]
Neurological
Survivors of ALL are at risk for various neurocognitive and neuropsychological issues that affect their quality of life.[3][30] These include issues with attention span, vision, processing speed, memory, growth failure, malnutrition, obesity, reduced fertility, psychiatric problems.[32] All of the latent effects listed impact patients.[33]
Growth and development
Some childhood leukemia treatments, notably stem cell transplants, can stunt growth. Growth hormone is sometimes given to help with this.[30]
Fertility
Fertility may be affected in both boys and girls who receive leukemia treatment.[30][34]
Bone problems
Bone problems or damage may result from glucocorticoids.[30]
Emotional
Childhood leukemia is a very taxing disease, on the caregiver and the child. Some emotional issues that survivors have reported include: depression, anxiety, post-traumatic stress disorder, difficulties with interpersonal relationships, poor body image, and schizophrenia among other issues. However, it is unclear if the rates of mental and emotional problems are higher in childhood leukemia survivors than the general population.[35] Regardless, some children may have emotional or psychological issues that may be addressed by doctors, other care team members, parents, and friends.[36]
## Epidemiology[edit]
Leukemia is the most common cancer in children, accounting for 25-30% of all cancers in children and adolescents.[1][29][27] It most commonly is diagnosed in children when they are 1–4 years old. The median age of diagnosis is 6 years old. Childhood leukemia is more common in boys than girls. It is also more frequently diagnosed in white and Hispanic children.[27] The incidence of childhood leukemia has been increasing over time. However, this may be because of increased ability to detect, diagnose, and report the disease, rather than an actual increase in children who are affected.[37][38]
ALL is the most common type of childhood leukemia, accounting for 75-80% of diagnoses.[2][7] AML is most commonly is diagnosed in 3-5-year-old children. As with childhood leukemia in general, it is more common in boys than girls and more common in white and Hispanic children.[3][38]
AML is the second most common type of childhood leukemia, making up most of the remaining diagnoses.[7] It is most commonly diagnosed in children less than 1 year old. Unlike ALL, it occurs equally in boys and girls and occurs equally across racial/ethnic groups.[38][39]
There are a number of risk factors that have been studied for childhood leukemia. Genetic risk factors include: Down syndrome, Fanconi anemia, familial monosomy 7, Shwachman–Diamond syndrome, Bloom Syndrome, as well as mutations in specific gene mutations.[3][39] Besides genetic risk factors, exposure to ionizing radiation is a known risk factor for childhood leukemia. Other factors that may be linked to development of childhood leukemia include: family history of blood cancers, maternal alcohol abuse, parental cigarette use, prior loss of pregnancy in the mother, older age of the mother, high birth weight, low birth weight, exposure to benzene, exposure to pesticides, and infections. However, whether or how much these factors actually contribute to the development of leukemia has yet to be determined and is unclear.[38][39]
## References[edit]
1. ^ a b c d "Cancer Facts and Figures 2018" (PDF). Atlanta: American Cancer Society. Retrieved 2018-12-03.
2. ^ a b c d e f "What is Childhood Leukemia?". Atlanta: American Cancer Society. 2016-02-03. Retrieved 2018-12-03.
3. ^ a b c d e f g h i j k l m n o Hunger SP, Mullighan CG (October 2015). "Acute Lymphoblastic Leukemia in Children". The New England Journal of Medicine. 373 (16): 1541–52. doi:10.1056/NEJMra1400972. PMID 26465987. S2CID 609394.
4. ^ a b c d e f g h i j k l m n o "Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ)-Patient Version". National Cancer Institute. 2018-09-17. Retrieved 2018-12-03.
5. ^ a b c d e f g h i j k l m "Childhood Acute Lymphoblastic Leukemia Treatment (PDQ)-Patient Version". National Cancer Institute. 2018-05-18. Retrieved 2018-12-04.
6. ^ a b Hutter JJ (June 2010). "Childhood leukemia". Pediatrics in Review. 31 (6): 234–41. doi:10.1542/pir.31-6-234. PMID 20516235.
7. ^ a b c d e "Leukemia in Children". Dana Farber Boston Children's Cancer and Blood Disorders Center. Retrieved 2018-12-03.
8. ^ a b Chang TY, Dvorak CC, Loh ML (October 2014). "Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia". Blood. 124 (16): 2487–97. doi:10.1182/blood-2014-03-300319. PMID 25163700.
9. ^ a b "Juvenile Myelomonocytic Leukemia (JMML)". Dana-Farber Boston Children's Cancer and Blood Disorders Center. Retrieved 2018-12-05.
10. ^ a b American Cancer Society. "Do we know what causes childhood leukemia?". Retrieved 8 December 2013.
11. ^ Greaves M (August 2018). "A causal mechanism for childhood acute lymphoblastic leukaemia". review. Nature Reviews. Cancer. 18 (8): 471–484. doi:10.1038/s41568-018-0015-6. PMC 6986894. PMID 29784935.
12. ^ Hwee J, Tait C, Sung L, Kwong JC, Sutradhar R, Pole JD (January 2018). "A systematic review and meta-analysis of the association between childhood infections and the risk of childhood acute lymphoblastic leukaemia". British Journal of Cancer. 118 (1): 127–137. doi:10.1038/bjc.2017.360. PMC 5765221. PMID 29065105.
13. ^ Karalexi MA, Dessypris N, Thomopoulos TP, Ntouvelis E, Kantzanou M, Diamantaras AA, Moschovi M, Baka M, Hatzipantelis E, Kourti M, Polychronopoulou S, Stiakaki E, Mora AM, Wunsch-Filho V, Infante-Rivard C, Loutradis D, Petridou ET (September 2017). "Parental alcohol consumption and risk of leukemia in the offspring: a systematic review and meta-analysis". European Journal of Cancer Prevention. 26 (5): 433–441. doi:10.1097/CEJ.0000000000000350. PMID 28379884. S2CID 23789925.
14. ^ Chen M, Chang CH, Tao L, Lu C (October 2015). "Residential Exposure to Pesticide During Childhood and Childhood Cancers: A Meta-Analysis". Pediatrics. 136 (4): 719–29. doi:10.1542/peds.2015-0006. PMID 26371195.
15. ^ Thomopoulos TP, Ntouvelis E, Diamantaras AA, Tzanoudaki M, Baka M, Hatzipantelis E, Kourti M, Polychronopoulou S, Sidi V, Stiakaki E, Moschovi M, Kantzanou M, Petridou ET (December 2015). "Maternal and childhood consumption of coffee, tea and cola beverages in association with childhood leukemia: a meta-analysis". Cancer Epidemiology. 39 (6): 1047–59. doi:10.1016/j.canep.2015.08.009. PMID 26329264.
16. ^ Wallace AD, Francis SS, Ma X, McKean-Cowdin R, Selvin S, Whitehead TP, Barcellos LF, Kang AY, Morimoto L, Moore TB, Wiemels JL, Metayer C (October 2018). "Allergies and Childhood Acute Lymphoblastic Leukemia: A Case-Control Study and Meta-analysis". Cancer Epidemiology, Biomarkers & Prevention. 27 (10): 1142–1150. doi:10.1158/1055-9965.EPI-17-0584. PMC 6628274. PMID 30068517.
17. ^ a b "Acute Myeloid Leukemia (AML) in Children". Dana Farber Boston Children's Cancer and Blood Disorders Center. Retrieved 2018-12-10.
18. ^ a b c d e "Acute Lymphoblastic Leukemia (ALL)". St. Jude Children's Research Hospital. Retrieved 27 July 2018.
19. ^ "How Chemotherapy Drugs Work". American Cancer Society. Retrieved 2018-12-13.
20. ^ "Chemotherapy to Treat Cancer". National Cancer Institute. 2015-04-29. Retrieved 2018-12-13.
21. ^ "High-dose Chemotherapy and Stem Cell Transplant for Childhood Leukemia". American Cancer Society. Retrieved 2018-12-13.
22. ^ a b "Immunotherapy for Childhood Leukemia". American Cancer Society. Retrieved 2018-12-13.
23. ^ a b "Treatment of Children With Acute Lymphocytic Leukemia (ALL)". American Cancer Society. Retrieved 2018-12-12.
24. ^ a b "Treatment of Children With Acute Myelogenous Leukemia (AML)". American Cancer Society. Retrieved 2018-12-13.
25. ^ a b "Childhood AML". Leukemia and Lymphoma Society. 2015-02-26. Retrieved 2018-12-13.
26. ^ a b "Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®)–Health Professional Version". 1980-01-01. Retrieved 2018-12-13.
27. ^ a b c "Cancer Stat Facts: Childhood Leukemia (Ages 0-19)". National Cancer Institute: Surveillance, Epidemiology, and End Results Program. Retrieved 2018-12-07.
28. ^ a b c "Prognostic Factors in Childhood Leukemia (ALL or AML)". American Cancer Society. Retrieved 2018-12-09.
29. ^ a b c "Childhood Blood Cancer Facts and Statistics". Leukemia and Lymphoma Society. 2015-03-12. Retrieved 2018-12-07.
30. ^ a b c d e f "Late and Long-term Effects of Treatment of Childhood Leukemia". American Cancer Society. Retrieved 2018-12-13.
31. ^ Diller L (October 2011). "Clinical practice. Adult primary care after childhood acute lymphoblastic leukemia". The New England Journal of Medicine. 365 (15): 1417–24. doi:10.1056/NEJMcp1103645. PMID 21995389.
32. ^ Kalafatçılar Aİ, Tüfekçi Ö, Ören H, Hız S, Güleryüz H, Akay A, Orçim E, Olgun Y, İrken G (March 2014). "Assessment of neuropsychological late effects in survivors of childhood leukemia". Pediatric Hematology and Oncology. 31 (2): 181–93. doi:10.3109/08880018.2013.803212. PMID 24088177. S2CID 25832215.
33. ^ Kunin-Batson A, Kadan-Lottick N, Neglia JP (June 2014). "The contribution of neurocognitive functioning to quality of life after childhood acute lymphoblastic leukemia". Psycho-oncology. 23 (6): 692–9. doi:10.1002/pon.3470. PMID 24497266.
34. ^ "Long-term and late effects for cancer survivors". Leukemia and Lymphoma Society. 2015-02-26. Retrieved 2018-12-13.
35. ^ Friend AJ, Feltbower RG, Hughes EJ, Dye KP, Glaser AW (September 2018). "Mental health of long-term survivors of childhood and young adult cancer: A systematic review" (PDF). International Journal of Cancer. 143 (6): 1279–1286. doi:10.1002/ijc.31337. PMID 29468674. S2CID 3838905.
36. ^ "Social and Emotional Issues During and After Treatment of Childhood Leukemia". American Cancer Society. Retrieved 2018-12-13.
37. ^ Barrington-Trimis JL, Cockburn M, Metayer C, Gauderman WJ, Wiemels J, McKean-Cowdin R (March 2017). "Trends in childhood leukemia incidence over two decades from 1992 to 2013". International Journal of Cancer. 140 (5): 1000–1008. doi:10.1002/ijc.30487. PMC 5550103. PMID 27778348.
38. ^ a b c d Belson M, Kingsley B, Holmes A (January 2007). "Risk factors for acute leukemia in children: a review". Environmental Health Perspectives. 115 (1): 138–45. doi:10.1289/ehp.9023. PMC 1817663. PMID 17366834.
39. ^ a b c Puumala SE, Ross JA, Aplenc R, Spector LG (May 2013). "Epidemiology of childhood acute myeloid leukemia". Pediatric Blood & Cancer. 60 (5): 728–33. doi:10.1002/pbc.24464. PMC 3664189. PMID 23303597.
## Further reading[edit]
* "Chronic Myelogenous Leukemia." Disease Information. 13 November 2009. The Leukemia and Lymphoma Society. 17 November 2009 <www. lls.org>
* "Juvenile Myelomonocytic Leukemia." My Child Has. 2006. Children's Hospital Boston. 17 November 2009 <www. childrenshospital.org>
* "What is Childhood Leukemia?." Cancer Reference Information. 14 May 2009. American Cancer Society. 17 November 2009 <www.cancer.org>
* "What are the Differences Between Cancer in Adults and Children?." Cancer Reference Information. 14 May 2009. American Cancer Society. 17 November 2009 <www.cancer.org>
* Pöder U, Ljungman G, von Essen L (May 2008). "Posttraumatic stress disorder among parents of children on cancer treatment: a longitudinal study". Psycho-Oncology. 17 (5): 430–7. doi:10.1002/pon.1263. PMID 17847123.
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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
|
Childhood leukemia
|
c1332977
| 25,488 |
wikipedia
|
https://en.wikipedia.org/wiki/Childhood_leukemia
| 2021-01-18T19:05:29 |
{"umls": ["C1332977"], "wikidata": ["Q5097982"]}
|
Goetzl (1978) observed families with very low eosinophil counts. Goetzl (1989) then observed a total of 4 families, in each of which only 1 individual was affected. Two of these patients were reported by Nakahata et al. (1984), who showed that acquired IgG antibodies to eosinophils were responsible. There is no support for a specific mendelian basis.
Inheritance \- Non-mendelian Immunology \- Acquired IgG antibodies to eosinophils Heme \- Low eosinophil counts ▲ 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
|
EOSINOPHILOPENIA
|
c1851586
| 25,489 |
omim
|
https://www.omim.org/entry/131430
| 2019-09-22T16:41:34 |
{"omim": ["131430"], "synonyms": ["Alternative titles", "EOSINOPHIL APLASIA"]}
|
Rare psychiatric emergency beginning suddenly in the first two weeks after childbirth
Postpartum psychosis
Other namespuerperal psychosis
Rates of psychoses among Swedish first-time mothers
SpecialtyPsychiatry
SymptomsHallucinations, delusions, mood swings, confusion, restlessness, personality changes[1]
CausesGenetic and environmental
Risk factorsFamily history, bipolar disorder, schizophrenia, difficult pregnancy[2]
TreatmentAnti-psychotics, mood stabilizers , anti-depressants
Early in the history of medicine, it was recognized that severe mental illness sometimes started abruptly in the days after childbirth, later known as puerperal or postpartum psychosis. Gradually, it became clear that this was not a single and unique entity, but a group of at least twenty distinct disorders.[3]
Psychosis implies the presence of manic symptoms, stupor or catatonia, perplexity, confusion, disorders of the will and self, delusions and/ or hallucinations. Psychiatric disorders that lack these symptoms are excluded; depression, however severe, is not included, unless there are psychotic features.
Of this group of psychoses, postpartum bipolar disorder is overwhelmingly the most common in high-income nations.
## Contents
* 1 Postpartum Bipolar disorder
* 1.1 Signs and symptoms
* 1.2 Diagnosis
* 1.3 Onset groups
* 1.4 Course of the illness
* 1.5 Management, treatment and prevention
* 1.5.1 Pre-conception counselling
* 1.5.2 Pre-birth planning
* 1.5.3 Home treatment and hospitalization
* 1.5.4 Treatment of the acute episode
* 1.5.5 Prevention
* 1.6 Causes
* 1.7 History
* 1.8 Research directions
* 2 Other non-organic postpartum psychoses
* 2.1 Psychogenic psychosis
* 2.2 Paranoid and schizophrenic psychoses
* 2.3 Early postpartum stupor
* 3 Organic postpartum psychoses
* 3.1 Infective delirium
* 3.2 Eclamptic and Donkin psychoses
* 3.3 Wernicke-Korsakoff psychosis
* 3.4 Vascular disorders
* 3.5 Epilepsy
* 3.6 Hypopituitarism
* 3.7 Water intoxication
* 3.8 Urea cycle disorders
* 3.9 Anti-NMDA receptor encephalitis
* 3.10 Other organic psychoses with a specific link to childbearing
* 3.11 Incidental organic psychoses
* 4 Society and culture
* 4.1 Support
* 4.2 Notable cases in history and fiction
* 4.3 Legal status
* 5 Books written about postpartum psychosis and postpartum bipolar disorder
* 6 References
* 7 External links
## Postpartum Bipolar disorder[edit]
### Signs and symptoms[edit]
Almost every symptom known to psychiatry occurs in these mothers – every kind of delusion including the rare delusional parasitosis,[4] delusional misidentification syndrome,[5] Cotard delusion,[6] erotomania,[7] and the changeling delusion,[8] denial of pregnancy or birth,[9] command hallucinations,[10] disorders of the will and self,[11] catalepsy and other symptoms of catatonia,[12] self-mutilation[13] and all the severe disturbances of mood. In addition, the literature also describes symptoms not generally recognized, such as rhyming speech,[14] enhanced intellect,[15] and enhanced perception.[16]
As for collections of symptoms (syndromes), about 40% have puerperal mania,[17][18] with increased vitality and sociability, reduced need for sleep, rapid thinking and pressured speech, euphoria and irritability, loss of inhibition, violence, recklessness and grandiosity (including religious and expansive delusions); puerperal mania is considered to be particularly severe, with highly disorganized speech, extreme excitement and eroticism.[19]
Another 25% have an acute polymorphic (cycloid) syndrome. This is a changing clinical state, with transient delusions, fragments of other syndromes, extreme fear or ecstasy, perplexity, confusion and motility disturbances. In the past some experts regarded this as pathognomonic (specific) for puerperal psychosis, but this syndrome is found in other settings, not just the reproductive process, and in men. These psychoses are placed in the World Health Organization's ICD-10 under the rubric of acute and transient psychotic disorders.[20] In general psychiatry, manic and cycloid syndromes are regarded as distinct, but, studied long-term among childbearing women, the bipolar and cycloid variants are intermingled in a bewildering variety of combinations, and, in this context, it seems best to regard them as members of the same ‘bipolar/cycloid’ group. Together the manic and cycloid variants make up about two thirds of childbearing psychoses.[21]
### Diagnosis[edit]
Postpartum bipolar disorders must be distinguished from a long list of organic psychoses that can present in the puerperium, and from other non-organic psychoses; both of these groups are described below. It is also necessary to distinguish them from other psychiatric disorders associated with childbirth, such as anxiety disorders, depression, post-traumatic stress disorder, complaining disorders and bonding disorders (emotional rejection of the infant), which occasionally cause diagnostic difficulties.
Clinical assessment requires obtaining the history from the mother herself and, because she is often severely ill, lacking in insight and unable to give a clear account of events, from at least one close relative. A social work report and, in mothers admitted to hospital, nursing observations are information sources of great value. A physical examination and laboratory investigations may disclose somatic illness complicating the obstetric events, which sometimes provokes psychosis. It is important to obtain the case records of previous episodes of mental illness, and, in patients with multiple episodes, to construct a summary of the whole course of her psychiatric history in relation to her life.
In the 10th edition of the International Classification of Diseases, published in 1992, the recommendation is to classify these cases by the form of the illness, without highlighting the postpartum state. There is, however, a category F53.1, entitled 'severe mental and behavioural disorders associated with the puerperium', which can be used when it is not possible to diagnose some variety of affective disorder or schizophrenia. The American Psychiatric Association's Diagnostic and Statistical Manual, whose 5th edition was published in May 2013, allows the use of a 'peripartum onset specifier' in episodes of mania, hypomania or major depression if the symptoms occur during pregnancy or the first four weeks of the puerperium. The failure to recognize postpartum psychosis, and its complexity, is unhelpful to clinicians, epidemiologists, and other researchers.[22]
### Onset groups[edit]
Postpartum bipolar disease belongs to the bipolar spectrum, whose disorders exist in two contrasting forms – mania and depression. They are highly heritable,[23] and sufferers (rather less than 1% of the population [24]) have a lifelong tendency (diathesis) to develop psychotic episodes in certain circumstances. The ‘triggers’ include a number of pharmaceutical agents, surgical operations, adrenal corticosteroids, seasonal changes, menstruation and childbearing. Research into puerperal mania is, therefore, not the study of a ‘disease-in-its-own right’, but an investigation into the childbearing triggers of bipolar disorder.
Psychoses triggered in the first two weeks after the birth - between the first postpartum day (or even during parturition [25] until about the 15th day – complicate approximately 1/1,000 pregnancies.[26] The impression is sometimes given that this is the only trigger associated with childbearing. But there is evidence of four other triggers – late postpartum,[27] prepartum,[28] post-abortion [29] and weaning.[30] Marcé, widely considered an authority on puerperal psychoses,[31] claimed that they could be divided into early and late forms; the late form begins about six weeks after childbirth, associated with the return of the menses.[32] His view is supported by the large number of cases in the literature with onset 4-13 weeks after the birth, mothers with serial 4-13 week onsets and some survey evidence.[33] The evidence for a trigger acting in pregnancy is also based on the large number of reported cases, and particularly on the frequency of mothers suffering two or more prepartum episodes. There is evidence, especially from surveys,[34] of bipolar episodes triggered by abortion (miscarriage or termination). The evidence for a weaning trigger rests on 32 cases in the literature, of which 14 were recurrent. The relative frequency of these five triggers is given by the number of cases in the literature – just over half early postpartum onset, 20% each late postpartum and prepartum onset, and the rest post-abortion and weaning onset.
In addition, episodes starting after childbirth may be triggered by adrenal corticosteroids, surgical operations (such as Caesarean section) or bromocriptine as an alternative to, or in addition to, the postpartum trigger.[35]
### Course of the illness[edit]
With modern treatment, a full recovery can be expected within 6-10 weeks.[36][37] After recovery from the psychosis, some mothers suffer from depression, which can last for weeks or months. About one third suffer a relapse, with a return of psychotic symptoms a few weeks after recovery; these relapses are not due to a failure to comply with medication, because they were often described [38] before pharmaceutical treatment was discovered.[39] A minority have a series of periodic relapses related to the menstrual cycle.[40] Complete recovery, with a resumption of normal life and a normal mother-infant relationship is the rule.[41]
Many of these mothers suffer from other bipolar episodes, on the average about one every six years. Although suicide is almost unknown in an acute puerperal manic or cycloid episode, depressive episodes later in life carry an increased risk,[42][43] and it is wise for mothers to maintain contact with psychiatric services in the long term.
In the event of a further pregnancy, the recurrence rate is high - in the largest series, about three quarters suffered a recurrence, but not always in the early puerperium; the recurrence could occur during pregnancy, or later in the postpartum period.[44] This suggests a link between early onset and other onset groups.
### Management, treatment and prevention[edit]
#### Pre-conception counselling[edit]
It is known that women with a personal or family history [45][46][47] of puerperal psychosis or bipolar disorder are at risk of a puerperal episode. The highest risk of all (82%) is a combination of a previous postpartum episode and at least one earlier non-puerperal episode.[48] There is a need to counsel women at high risk before they embark on pregnancy, especially those on prophylactic treatment. The issues include the teratogenic risk, the frequency of recurrence and the risks and benefit of various treatments during pregnancy and breast-feeding; a personal analysis should be made for each individual,[49] and is best shared with close family members. The teratogenic risks of antipsychotic agents are small,[50] but are higher with lithium [51] and anti-convulsant agents. Carbamazepine, when taken in early pregnancy, has some teratogenic effects,[52] but valproate is associated with spina bifida and other major malformations, and a foetal valproate syndrome;[53] it is contra-indicated in women who may become pregnant. Given late in pregnancy, antipsychotic agents and lithium [54] can have adverse effects on the infant. Stopping mood-stabilisers has a high risk of recurrence during pregnancy.[55]
#### Pre-birth planning[edit]
If a woman at high risk becomes pregnant, it is essential to convene a planning meeting. This is urgent because the diagnosis of pregnancy may be late, and the birth may be premature. The meeting should be attended by primary care, obstetric and psychiatric staff, together (if possible) with the expectant mother and her family and (if appropriate) a social worker. There are many issues – pharmaceutical treatment, antenatal care, early signs of a recurrence, the management of the puerperium, and the care and safety of the infant. It is important that the psychiatric team is notified as soon as the infant is born.
#### Home treatment and hospitalization[edit]
It has been recognized since the 19th century [56] that it is optimal for a woman with puerperal psychosis to be treated at home, where she can maintain her role as homemaker and mother to her other children, and develop her relationship with the new-born. But there are many risks,[57] and it is essential that she is monitored by a competent adult round the clock, and visited frequently by professional staff. Home treatment is a counsel of perfection and most women will be admitted to a psychiatric hospital, many as an emergency, and usually without their babies. In a few countries, especially Australia, Belgium, France, India, the Netherlands, Switzerland and the United Kingdom, special units allow the admission of both woman and infant. Conjoint admission has many advantages, but the risks to the infant of admission to a ward full of severely ill mothers should not be understated,[58][59] and the high ratio of nursing staff, required to safeguard the infants, make these among the most expensive psychiatric units.
#### Treatment of the acute episode[edit]
These mothers require sedation with anti-psychotic (neuroleptic) agents, but are liable to extrapyramidal symptoms,[60] including the neuroleptic malignant syndrome.[61] Since the link with bipolar disorder was recognized (about 1970), treatment with mood-stabilizing agents, such as lithium [62] and anti-convulsant drugs, has been employed with success. Electroconvulsive therapy has the reputation of efficacy in this disorder,[63] and it can be given during pregnancy (avoiding the risk of pharmaceutical treatment), with due precautions.[64] But there have been no trials, and Dutch experience has shown that almost all mothers recover quickly without it.[65] After recovery the mother may need antidepressant treatment and/or prophylactic mood stabilizers; she will need counselling about the risk of recurrence and will often appreciate psychotherapeutic support.[66]
#### Prevention[edit]
There is much evidence that lithium can at least partly prevent episodes in mothers at high risk.[67] It is dangerous during parturition, when pressure in the pelvis can obstruct the ureters and raise blood levels.[68] Started after the birth its adverse effects are minimal, even in breast-fed infants.[69]
But these are early days in the control of this malady. The ambition of medicine is to eradicate disease through understanding its causes, and dealing with them. To eliminate the risk of puerperal psychosis in the daughters and descendants of present sufferers, we need to know much more about the bipolar diathesis, and how, in each onset group, episodes are triggered.
### Causes[edit]
The cause of postpartum bipolar disorder breaks down into two parts – the nature of the brain anomalies that predispose to manic and depressive symptoms, and the triggers that provoke these symptoms in those with the bipolar diathesis. The genetic, anatomical and neurochemical basis of bipolar disorder is at present unknown, and is one of the most important projects in psychiatry; but is not the main concern here. The challenge and opportunity presented by the childbearing psychoses is to identify the triggers of early postpartum onset and other onset groups.
Considering that these psychoses have been known for centuries, little effort has so far been made to understand the underlying biology.[70] Research has lagged far behind other areas of medicine and psychiatry.[71] There is a dearth of knowledge and of theories. There is a much evidence of heritability, both from family studies [72][73][74] and molecular genetics.[75] Early onset cases occur more frequently in first time mothers,[76] but this is not true of late postpartum or pregnancy onset. There are not many other clues. Sleep deprivation has been suggested.[77] Inhibition of steroid sulphatase caused behavioural abnormalities in mice.[78] A recent hypothesis,[79] supported by collateral studies, invokes the re-awakening of auto-immunity after its suppression during pregnancy, on the model of multiple sclerosis or autoimmune thyroiditis; a related hypothesis has proposed that abnormal immune system processes (regulatory T cell biology) and consequent changes in myelinogenesis may increase postpartum psychosis risk.[80] Aberrant steroid hormone–dependent regulation of neuronal calcium influx via extracellular matrix proteins and membrane receptors involved in responding to the cell’s microenvironment might be important in conferring biological risk.[81] Another promising lead is based on the similarity of bipolar-cycloid puerperal and menstrual psychosis; many women have suffered from both. Late-onset puerperal psychoses, and relapses may be linked to menstruation. Since almost all reproductive onsets occur when the menstrual cycle is released from a long period of inhibition, this may be a common factor, but it can hardly explain episodes starting in the 2nd and 3rd trimesters of pregnancy.[82]
### History[edit]
Between the 16th and 18th centuries about 50 brief reports were published; among them is the observation that these psychoses could recur,[83] and that they occur both in breast-feeding and non-lactating women.[84] In 1797, Osiander,[85] an obstetrician from Tübingen, reported two cases at length - masterly descriptions which are among the treasures of medical literature. In 1819, Esquirol [86] conducted a survey of cases admitted to the Salpêtrière, and pioneered long-term studies. From that time, puerperal psychosis became widely known to the medical profession. In the next 200 years over 2,500 theses, articles and books were published. Among the outstanding contributions were Delay's unique investigation using serial curettage [87] and Kendell's record-linkage study comparing 8 trimesters before and 8 trimesters after the birth.[88] In the last few years, two monographs [89][90] reviewed over 2,400 works, with more than 4,000 cases of childbearing psychoses from the literature and a personal series of more than 320 cases.
### Research directions[edit]
The lack of a formal diagnosis in the DSM and ICD has hindered research.[91] Research is needed to improve the care and treatment of afflicted mothers, but it is of paramount importance to investigate the causes, because this can lead to long term control and elimination of the disease. The opportunities come under the heading of clinical observation, the study of the acute episode, long-term studies, epidemiology, genetics and neuroscience.[92] If mothers, who have suffered from puerperal psychosis, are concerned to encourage research this is a contact.[93] In a disorder with a strong genetic element and links to the reproductive process, costly imaging, molecular-genetic and neuroendocrinological investigations will be decisive. These depend on expert laboratory methods. It is important that the clinical study is also ‘state-of-the-art’– that scientists understand the complexity of these psychoses, and the need for multiple and reliable information sources to establish the diagnosis.
## Other non-organic postpartum psychoses[edit]
It is much less common to encounter other acute psychoses in the puerperium.
### Psychogenic psychosis[edit]
This is the name given to a psychosis whose theme, onset and course are all related to an extremely stressful event.[94] The psychotic symptom is usually a delusion. Over 50 cases have been described, but usually in unusual circumstances, such as abortion.[95] or adoption[96] or in fathers at the time of the birth of one of their children.[97] They are occasionally seen after normal childbirth.[98]
### Paranoid and schizophrenic psychoses[edit]
These are so uncommon in the puerperium that it seems reasonable to regard them as sporadic events, not puerperal complications.
### Early postpartum stupor[edit]
Brief states of stupor have rarely been described in the first few hours or days after the birth.[99] They are similar to parturient delirium and stupor, which are among the psychiatric disorders of childbirth.
## Organic postpartum psychoses[edit]
There are at least a dozen organic (neuropsychiatric) psychoses that can present in pregnancy or soon after childbirth.[100] The clinical picture is usually delirium – a global disturbance of cognition, affecting consciousness, attention, comprehension, perception and memory – but amnesic syndromes and a mania-like state [101] also occur. The two most recent were described in 1980[102] and 2010,[103] and it is quite likely that others will be described. Organic psychoses, especially those due to infection, may be more common in nations with high parturient morbidity.[104]
### Infective delirium[edit]
The most common organic postpartum psychosis is infective delirium. This was mentioned by Hippocrates:[105] there are 8 cases of puerperal or post-abortion sepsis among the 17 women in the 1st and 3rd books of epidemics, all complicated by delirium. In Europe and North America the foundation of the metropolitan maternity hospitals, together with instrumental deliveries and the practice of attending necropsies, led to epidemics of streptococcal puerperal fever, resulting in maternal mortality rates up to 10%. The peak was about 1870, after which antisepsis and asepsis gradually brought them under control. These severe infections were often complicated by delirium, but it was not until the nosological advances of Chaslin[106] and Bonhöffer[107] that they could be distinguished from other causes of postpartum psychosis. Infective delirium hardly ever starts during pregnancy, and usually begins in the first postpartum week. The onset of sepsis and delirium are closely related, and the course parallels the infection, although about 20% of patients continue to suffer from chronic confusional states after recovery from the infection. Recurrences after another pregnancy are rare. Their frequency began to decline at the end of the 19th century,[108] and fell steeply after the discovery of the sulphonamides. Puerperal sepsis is still common in Bangladesh,[109] Nigeria[110] and Zambia.[111] Even in Britain, cases are still occasionally seen.[112] It would be a mistake to forget this cause of puerperal psychosis.
### Eclamptic and Donkin psychoses[edit]
Eclampsia is the sudden eruption of convulsions in a pregnant woman, usually around the time of delivery. It is the late complication of pre-eclamptic toxaemia (gestosis). Although its frequency in nations with excellent obstetric services has fallen below 1/500 pregnancies, it is still common in many other countries. The primary pathology is in the placenta, which secretes an anti-angiogenic factor in response to ischaemia, leading to endothelial dysfunction.[113][114] In fatal cases, there are arterial lesions in many organs including the brain. This is the second most frequent organic psychosis, and the second to be described.[115] Psychoses occur in about 5% of cases, and about 240 detailed cases have been reported.[116] It particularly affects first time mothers. Seizures may begin before, during or after labour, but the onset of psychosis is almost always postpartum. These mothers usually suffer from delirium but some have manic features. The duration is remarkably short, with a median duration of 8 days. This, together with the absence of a family history and of recurrences, contrasts with puerperal bipolar/cycloid psychoses. After recovery, amnesia and sometimes retrograde memory loss may occur, as well as other permanent cerebral lesions such as dysphasia, hemiplegia or blindness.
A variant was described by Donkin .[117] He had been trained by Simpson (one of those who first recognized the importance of albuminuria) in Edinburgh, and recognized that some cases of eclamptic psychosis occurred without seizures; this explains the interval between seizures (or coma) and psychosis, a gap that has occasionally exceeded 4 days: seizures and psychosis are two different consequences of severe gestosis. Donkin psychosis may not be rare: a British series included 13 possible cases;[118] but clarifying its distinction from postpartum bipolar disorder requires prospective investigations in collaboration with obstetricians.
### Wernicke-Korsakoff psychosis[edit]
This was described by Wernicke[119] and Korsakoff.[120] The pathology is damage to the core of the brain including the thalamus and mamillary bodies. Its most striking clinical feature is loss of memory, which can be permanent. It is usually found in severe alcoholics, but can also result from pernicious vomiting of pregnancy (hyperemesis gravidarum), because the requirement for thiamine is much increased in pregnancy; nearly 200 cases have been reported.[121] The cause is vitamin B1 (thiamine) deficiency. This has been available for treatment and prevention since 1936,[122] so the occurrence of this syndrome in pregnancy should be extinct. But these cases continue to be reported – more than 50 in this century – from all over the world, including some from countries with advanced medical services;[123] most are due to rehydration without vitamin supplements. A pregnant woman who presents in a dehydrated state due to pernicious vomiting urgently needs thiamine, as well as intravenous fluids.
### Vascular disorders[edit]
Various vascular disorders occasionally cause psychosis, especially cerebral venous thrombosis. Puerperal women are liable to thrombosis, especially thrombophlebitis of the leg and pelvic veins; aseptic thrombi can also form in the dural venous sinuses and the cerebral veins draining into them. Most patients present with headache, vomiting, seizures and focal signs such as hemiplegia or dysphasia, but a minority of cases have a psychiatric presentation.[124] The incidence is about 1 in 1,000 births in Europe and North America,[125] but much higher in India, where large series have been collected.[126] Psychosis is occasionally associated with other arterial or venous lesions: epidural anaesthesia can, if the dura is punctured, lead to leakage of cerebrospinal fluid and subdural haematoma.[127] Arterial occlusion may be due to thrombi, amniotic fragments or air embolism. Postpartum cerebral angiopathy is a transitory arterial spasm of medium caliber cerebral arteries; it was first described in cocaine and amphetamine addicts, but can also complicate ergot and bromocriptine prescribed to inhibit lactation. Subarachnoid haemorrhage can occur after miscarriage or childbirth. All these usually present with neurological symptoms, and occasionally with delirium.
### Epilepsy[edit]
Women with a lifelong epileptic history are liable to psychoses during pregnancy, labour and the puerperium. Women occasionally develop epilepsy for the first time in relation to their first pregnancy, and psychotic episodes have been described. There are over 30 cases in the literature.[128]
### Hypopituitarism[edit]
Pituitary necrosis following postpartum haemorrhage (Sheehan's syndrome) leads to failure and atrophy of the gonads, adrenal and thyroid. Chronic psychoses can supervene many years later, based on myxoedema, hypoglycaemia or Addisonian crisis. But these patients can also develop acute and recurrent psychoses, even as early as the puerperium.[129][130]
### Water intoxication[edit]
Hyponatraemia (which leads to delirium) can complicate oxytocin treatment, usually when given to induce an abortion. By 1975, 29 cases had been reported, of which three were severe or fatal.[131]
### Urea cycle disorders[edit]
Inborn errors of the Krebs-Henseleit urea cycle lead to hyperammonaemia. In carriers and heterozygotes, encephalopathy can develop in pregnancy or the puerperium. Cases have been described in carbamoyl phosphate synthetase 1, argino-succinate synthetase and ornithine carbamoyltransferase deficiency.[132]
### Anti-NMDA receptor encephalitis[edit]
The most recent form of organic childbearing psychosis to be described is encephalitis associated with antibodies to the NMDA receptor; these women often have ovarian teratomas. A Japanese review found ten reported during pregnancy and five after delivery.[133]
### Other organic psychoses with a specific link to childbearing[edit]
Sydenham's chorea, of which chorea gravidarum is a severe variant, has a number of psychiatric complications, which include psychosis. This usually develops during pregnancy, and occasionally after the birth or abortion. Its symptoms include severe hypnagogic hallucinations (hypnagogia),[134][135] possibly the result of the extreme sleep disorder. This form of chorea was caused by streptococcal infections, which at present respond to antibiotics; it still occurs as a result of systemic lupus or anti-phospholipid syndromes. Only about 50 chorea psychoses have been reported, and only one this century; but it could return if the streptococcus escapes control. Alcohol withdrawal states (delirium tremens) occur in addicts whose intake has been interrupted by trauma or surgery; this can happen after childbirth. Postpartum confusional states have also been reported during withdrawal from opium[136] and barbiturates.[137] One would expect acquired immunodeficiency syndrome (HIV/AIDS) encephalitis to present in pregnancy or the puerperium, because it is a venereal disease that can progress rapidly; one case of AIDS encephalitis, presenting in the 28th week of gestation, has been reported from Haiti,[138] and there may be others in countries where AIDS is rife. Anaemia is common in pregnancy and the puerperium, and folate deficiency has been linked to psychosis.[139]
### Incidental organic psychoses[edit]
The psychoses, mentioned above, all had a recognized connection with childbearing. But medical disorders with no specific link have presented with psychotic symptoms in the puerperium; in them the association seems to be fortuitous.[140] They include neurosyphilis, encephalitis including von Economo's, meningitis, cerebral tumours, thyroid disease and ischaemic heart disease.
## Society and culture[edit]
### Support[edit]
In the UK, a series of workshops called "Unravelling Eve" were held in 2011, where women who had experienced postpartum depression shared their stories.[141]
### Notable cases in history and fiction[edit]
Harriet Sarah, Lady Mordaunt (1848–1906), formerly Harriet Moncreiffe, was the Scottish wife of an English baronet and Member of Parliament, Sir Charles Mordaunt.[citation needed] She was the defendant in a sensational divorce case in which the Prince of Wales (later King Edward VII) was embroiled; after a controversial trial lasting seven days, the jury determined that Lady Mordaunt was suffering from “puerperal mania” and her husband's petition for divorce was dismissed, while Lady Mordaunt was committed to an asylum.[142]
Andrea Yates suffered from depression and, four months after the birth of her 5th child, relapsed, with psychotic features. Several weeks later she drowned all five children. Under the law in Texas, she was sentenced to life imprisonment, but, after a retrial, was committed to a mental hospital.
Guy de Maupassant, in his novel Mont-Oriol (1887) described a brief postpartum psychotic episode.
Charlotte Perkins Gilman, in her short story The Yellow Wallpaper (1892) described severe depression with psychotic features starting after childbirth, perhaps similar to that experienced by the author herself.
Stacey Slater, a fictional character in the long-running BBC soap-opera EastEnders suffered from postpartum psychosis in 2016, and was one of the show's biggest storylines that year.
### Legal status[edit]
Postpartum psychosis, especially when there is a marked component of depression, has a small risk of filicide. In acute manic or cycloid cases, this risk is about 1%.[143] Most of these incidents have occurred before the mother came under treatment, and some have been accidental. Several nations including Canada, Great Britain, Australia, and Italy recognize postpartum mental illness as a mitigating factor in cases where mothers kill their children.[144] In the United States, such a legal distinction was not made as of 2009,[144] and an insanity defense is not available in all states.[145]
Britain has had the Infanticide Act since 1922.
## Books written about postpartum psychosis and postpartum bipolar disorder[edit]
Apart from the two monographs mentioned in the text (references 1 and 86), the following books have been published about these psychoses:
Ripping, Dr (1877) Die Geistesstörungen der Schwangeren, Wöchnerinnen und Säugenden. Stuttgart, Enke.
Knauer O (1897) Über Puerperale Psychose für practische Ärzte. Berlin, Karger.
Twomey T (2009) Understanding Postpartum Psychosis: A Temporary Madness. Westport, Praeger.
Harwood D (2017) Birth of a New Brain - Healing from Postpartum Bipolar Disorder. Brentwood, Post Hill Press.
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73. ^ Schöpf J (1992) Postpartum-Psychosen: Beitrag zur Nosologie. Thesis, Zürich.
74. ^ Jones I, Craddock N (2001) Familiarity of the puerperal trigger in bipolar disorder: results of a family study. American Journal of Psychiatry 158: 913-917.
75. ^ Jones I, Hamshere M, Nangle J M, Bennett P, Green E, Heron J, Segurado R, Lambert D, Holmans P, Corvin A, Owen M, Jones L, Gill M, Craddock N (2007) Bipolar affective puerperal psychosis: genome-wide significant evidence for linkage to chromosome 16. American Journal of Psychiatry 164: 1099-1104.
76. ^ Kendell R E, Chalmers J C, Platz C (1987) Epidemiology of puerperal psychoses. British Journal of Psychiatry 150: 662-673.
77. ^ Lewis K J S, Foster R G, Jones I R (2016) Is sleep disruption a trigger for postpartum psychosis? British Journal of Psychiatry 208: 409-411.
78. ^ Humby T, Cross E S, Messer L, Guerrero S, Davies W (2016) A pharmacological mouse model suggests a novel risk pathway for postpartum psychosis. Psychoneuroendocrinology 74: 363-370.
79. ^ name="Bergink 2013, p75-82."
80. ^ Dazzan P, Fuste M, Davies W. (2018) Do defective immune system-mediated myelination processes increase postpartum psychosis risk? Trends in Molecular Medicine 24(11): 942-949 doi:10.1016/j.molmed.2018.09.002
81. ^ Davies W (November 2020). "A new molecular risk pathway for postpartum mood disorders: clues from steroid sulfatase-deficient individuals". Archives of Women's Mental Health Research. doi:10.1007/s00737-020-01093-1. PMID 33219387. S2CID 227076500.
82. ^ name="Cambridge 2017, p320-330."
83. ^ Van Foreest P (1609) Puerperas nonnunquam phreniticas fierit & sineglectim habeantur, sibi ipsis vim inferre. Observationes, scholio 7, lib. 10.
84. ^ Bartholomaeo de Battista a St Georgio (1784) Von der Tollsucht den Kindbetterinnen, in his Abhandlung von den Krankheiten des schönen Geschlechtes, Vienna, Sonnleithner, pages 113-114 in the 1819 edition.
85. ^ Osiander F B (1797). Neue Denkwürdigkeiten für Ärzte und Geburtshelfer. Göttingen, Rosenbusch, volume 1, pages 52-89, 90-128. These cases have been translated in reference 86, p19-30.
86. ^ Esquirol J E D (1819) De l'aliénation mentale des nouvelles accouchées et des nourrices. Annuaires Médicales-chirurgiques des Hôpitaux de Paris 1: 600-632.
87. ^ Delay J, Boitelle G, Corteel A (1948. Les psychoses du postpartum: étude cyto-hormonale. Semaines d'Hôpitaux de Paris 24: 2891-2901.
88. ^ Kendell R E, Chalmers J C, Platz C (1987) Epidemiology of puerperal psychoses. British Journal of Psychiatry 150: 662-673.
89. ^ Brockington I F (2014) What is Worth Knowing about 'Puerperal Psychosis'. Bredenbury, Eyry Press. A pdf of this limited edition can be obtained gratis on email request to [email protected].
90. ^ name="Cambridge 2017, p1-278."
91. ^ Jones I, Chandra P S, Dazzan P, Howard L M (2014) Bipolar disorder, affective psychosis, and schizophrenia in pregnancy and the post-partum period. Lancet 384: 1789-1799.
92. ^ name="Cambridge 2017, p369-371."
93. ^ [email protected].
94. ^ Strömgren E (1986) Reactive (psychogenic) psychoses and their relations to schizoaffective psychoses. In A Marneros & M T Tsuang (editors), Schizoaffective Psychoses, Berlin-Heidelberg, Springer-Verlag, pages 260-271.
95. ^ Edelberg H, Galant (1925) Über psychotische Zustände nach künstlichen Abort. Zeitschrift für die gesamte Neurologie und Psychiatrie 97: 106-128.
96. ^ Trixler M, Jádi T, Wagner M (1981) Adoptació utáni ‚post partum‘ pszichózisok. Orvosi Hetilap 122: 3071-3071.
97. ^ Ginath Y (1974) Psychoses in males in relation to their wives‘ pregnancy and childbirth. Israeli Annals of Psychiatry and Related Disciplines 12: 227-237.
98. ^ name="Cambridge 2017, p169-171."
99. ^ name="Cambridge 2017, p119-122."
100. ^ name="Cambridge 2017, p24-67."
101. ^ name="Cambridge 2017, p25."
102. ^ Yamada N, Fukui M, Ishii K, Shibata H, Okabe H, Ohomiya H, Matsunobu A, Nishizima M 1980) A case of adult form hypercitrullinemia with consciousness disturbance and marked hypertransaminasenemia after delivery. Nihon Shokakibyo Gakkae Zasshi 77: 1655-1660.
103. ^ Ito Y, Abe T, Tomioka R, Komori T, Araki N (2010) [Anti-NMDA receptor encephalitis during pregnancy]. Rinsho Shinkeigaku 50: 103-107.
104. ^ Ndosi N K, Mtawali M L (2002) The nature of puerperal psychosis at Muhimbili National Hospital: its physical co-morbidity, associated main obstetric and social factors. African Journal of Reproductive Health 6: 41-49.
105. ^ Hippocrates (5th Century BC) Epidemics, book III, volume 1, pages 280-283, in the edition translated by W H S Jones, 1931.
106. ^ Chaslin P (1895) Confusion Mentale Primitive, Stupidité, Démence aiguë, Stupeur Primitive. Paris, Harmattan.
107. ^ Bonhöffer K (1910) Die symptomatischen Psychosen im Gefolge von akuten Infektionen und inneren Erkrankungen. Leipzig and Wien, Deutlicke.
108. ^ Poulsen A (1899) Nogle bemärkungen om puerperal psychosen. Hospitals-Tidende, 4 räkke, 7: 251-260.
109. ^ Halim A, Utz B, Biswas A, Rahman F, van den Broek N (2014) Cause of, and contributing factors, to maternal deaths: a cross-sectional study using verbal autopsy in four districts in Bangladesh. British Journal of Obstetrics & Gynaecology 121, supplement s4: 86-94.
110. ^ Guerrier G, Oluyide B, Keramarou M, Grais R (2013) High maternal and neonatal mortality rates in northern Nigeria: an 8-month observational study. International Journal of Women’s Heath 5: 495-499.
111. ^ Vallely L, Ahmed Y, Murray S F (2005) Postpartum maternal morbidity requiring hospital admission in Lusaka, Zambia – a descriptive study. BMC Pregnancy Childbirth 5: 1-10.
112. ^ name="Cambridge 2017, p27."
113. ^ Roberts J M (1998) Endothelial dysfunction in pre-eclampsia. Seminars in Reproductive Endocrinology 16: 5-15.
114. ^ Tomimatsu T, Mimura K, Matsuzaki S, Endo M, Kumasawa K, Kimura T (2019) Preeeclampsia: maternal systemic vascular disorder caused by generalized endothelial dysfunction due to placental antiangiogenic factors. International Journal of Molecular Science 20: E4246.
115. ^ Imbert-Gourbeyer (1861) Des paralyses puerpérales. Mémoirs de l'Académie Impériale de Médecine 25: 46-53.
116. ^ name="Cambridge 2017, p28-35."
117. ^ Donkin A S (1863) On the pathological relation between albuminuria and puerperal mania. Edinburgh Medical Journal 8: 994-1004.
118. ^ name="Cambridge 2017, p35."
119. ^ Wernicke C (1881) Lehrbuch der Gehirnkrankheiten für Ärzte und Studirende, volume 2. Kassel & Berlin, Fischer, pages 229-242.
120. ^ Korsakow S S (1887) Über eine besonderer Form psychischer Störung. Archiv für Psychiatrie 21: 671-704.
121. ^ name="Cambridge 2017, p36-41."
122. ^ Williams R R, Cline J K (1936) Synthesis of vitamin B1. Journal of the American Chemical Association 58: 1504-1505.
123. ^ Giugale L E, Young O M, Streitman D C (2015) Iatrogenic Wernicke encephalopathy in a patient with severe hyperemesis gravidarum. Obstetrics and Gynecology 125: 1150-1152.
124. ^ Kalbag R M, Woolf A L (1967) Cerebral Venous Thrombosis, with Special Reference to Primary Aseptic Thrombosis. Oxford, Oxford University Press.
125. ^ Lanska D J, Kryscio R J (2000) Risk factors for peripartum and postpartum stroke and intracranial venous thrombosis. Stroke 31: 1274-1282.
126. ^ Srinavasan K (1988) Puerperal cerebral venous and arterial thrombosis. Seminars in Neurology 8:222-225.
127. ^ Jack T M (1982) Post-partum intracranial subdural haematoma. A possible complication of epidural analgesia. British Medical Journal 285: 972 only.
128. ^ name="Cambridge 2017, p56-58."
129. ^ Shoib S, Dar M M, Arif T, Bashir H, Bhat M H, Ahmed J (2013) Sheehan’s syndrome presenting as psychosis: a rare clinical presentation. Medical Journal of the Republic of Iran 27: 35-37.
130. ^ name="Cambridge 2017, p59-62."
131. ^ Ahmad A J, Clark E H, Jacobs H S (1975) Water intoxication associated with oxytocin infusion. Postgraduate Medical Journal 51: 249-252.
132. ^ name="Cambridge 2017, p63-65."
133. ^ Doden T, Sekijima Y, Ikeda J, Ozawa K, Ohashi N, Kodaira M, Hineno A, Tachibana N, Ikeda S (2016) Postpartum anti-N-methyl-D-aspartate receptor encephalitis: a case report and literature review. Internal Medicine 56: 357-362.
134. ^ Marcé L V (1860) L'État mental dans la chorée. Mémoirés de l'Académie de Médecine 24: 30-38.
135. ^ Breton A (1893) État mental dans la chorée. Thèse, Paris, no. 124.
136. ^ Hill N M (1891) Four cases of puerperal insanity. Transactions of the Iowa State Medical Society 9: 132-134.
137. ^ Baker A A (1967) Psychiatric Disorders in Obstetrics, Oxford, Blackwell, page 61.
138. ^ Birnbach D J, Bourlier R A, Choi R, Thys D M (1995) Anaesthetic management of Caesarean section in a patient with recurrent genital herpes and AIDS-related dementia. British Journal of Anaesthesia 75: 639-641.
139. ^ Thornton W E (1977) Folate deficiency in puerperal psychosis. American Journal of Obstetrics and Gynecology 129: 222-223.
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145. ^ Rhodes, Ann M.; Segre, Lisa S. (6 June 2013). "Perinatal depression: a review of US legislation and law". Archives of Women's Mental Health. 16 (4): 259–270. doi:10.1007/s00737-013-0359-6. PMC 3725295. PMID 23740222.
## External links[edit]
Classification
D
* ICD-10: F53
* ICD-9-CM: 648.4
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
* v
* t
* e
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
|
Postpartum psychosis
|
c0520678
| 25,490 |
wikipedia
|
https://en.wikipedia.org/wiki/Postpartum_psychosis
| 2021-01-18T18:55:07 |
{"umls": ["C0520678"], "icd-9": ["648.4"], "icd-10": ["F53.1"], "orphanet": ["443173"], "wikidata": ["Q2339132"]}
|
A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autoimmune polyendocrinopathy
|
c0085409
| 25,491 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282196
| 2021-01-23T17:23:25 |
{"mesh": ["D016884"], "umls": ["C0085409"], "icd-10": ["E31.0"], "synonyms": ["APS", "Autoimmune polyglandular syndrome"]}
|
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta type IX (OI9) is caused by homozygous or compound heterozygous mutation in the PPIB gene (123841) on chromosome 15q22.
Description
Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
Clinical Features
In an inbred Irish Traveller family, Williams et al. (1989) described severe Sillence type II/III (166210/259420) osteogenesis imperfecta in 3 consecutively born children with first-cousin parents. Three other children were unaffected. There had been other infants in the kindred with lethal OI. The first sib, a male, died at age 6 weeks. The second, a girl, was living at age 7 years and attended a normal school with the aid of an electric cart. The third was diagnosed by ultrasound, and pregnancy was terminated at 30 weeks' gestation. The lumbar spine of the mother was interpreted as showing early osteoporosis; the age of the parents was not given. Studies in the children showed overhydroxylation of type I collagen components over the entire length of the collagen and procollagen triple helix, suggesting overmodification of type I collagen. Linkage studies excluded both the COL1A1 (120150) and the COL1A2 (120160) genes as the site of the mutation in this disorder (Daw et al., 1988).
Van Dijk et al. (2009) studied 2 fetuses with osteogenesis imperfecta from a nonconsanguineous northern European family; radiographs and autopsy at 16 weeks' and 22 weeks' gestation, respectively, showed absence of rib fractures with shortened, bowed, and fractured long bones without evidence of rhizomelia, consistent with a diagnosis of Sillence OI type II. Weight and head circumference were normal for gestational age, and no other abnormalities were noted. Bone histology confirmed the diagnosis of OI, and overmodification of collagen type I in fibroblasts was evident on electrophoresis. Van Dijk et al. (2009) also studied 2 sibs with OI from a consanguineous Pakistani family, the older of whom was born with multiple long-bone fractures and had a large head with large anterior fontanel and gray-colored sclerae, flexed and abducted hips, short bowed femurs with anterior bowing of the tibiae, and joint hypermobility, especially of the finger and hip joints, consistent with a diagnosis of Sillence OI type III. There was no evidence of dentinogenesis imperfecta. The older sib, who had never walked, used a wheelchair at age 8 years and had kyphoscoliosis of the thoracic and lumbar spine, with a height at the 50th percentile for a 17-month-old child.
Barnes et al. (2010) studied a 4-year-old girl and her 12-year-old brother, born of consanguineous Senegalese parents, who had moderately severe osteogenesis imperfecta. The affected sibs did not have rhizomelia or severe deformity of the long bones, and their skin was normal in appearance and extensibility. Although they had moderate axial growth deficiency, their hand length and segmental proportions were appropriate for their age. Both children had white sclerae and normal dentition. The brother, whose osteogenesis imperfecta was milder than that of his sister, also had sickle cell disease.
Pyott et al. (2011) identified mutations in the PPIB gene in 3 families with OI9; one family had a lethal OI type II phenotype, another had a severe OI type III phenotype, and the last had a moderately severe deforming OI type III/IV phenotype.
Molecular Genetics
In 4 patients from 2 unrelated families with severe osteogenesis imperfecta, van Dijk et al. (2009) analyzed the PPIB gene and identified homozygosity for a frameshift (123841.0001) and a nonsense (123841.0002) mutation, respectively.
In a sister and brother who had moderately severe osteogenesis imperfecta without rhizomelia, who were born of consanguineous Senegalese parents, Barnes et al. (2010) identified homozygosity for a missense mutation in the PPIB gene (123841.0003). The proband had normal collagen folding and normal prolyl 3-hydroxylation, suggesting that CYPB is not the exclusive peptidyl-prolyl cis-trans isomerase that catalyzes the rate-limiting step in collagen folding.
In a Palestinian pedigree segregating moderate and lethal forms of OI, Barnes et al. (2012) identified a homozygous indel mutation in the FKBP10 gene (607063.0009) in a proband from one branch of the family with OI type 11 (610968), and a homozygous deletion in the PPIB gene (123841.0004) in a proband from another branch of the family with OI type IX.
In 2 sibs, born to nonconsanguineous parents, with a lethal form of OI type IX, Pyott et al. (2011) identified compound heterozygous mutations in the PPIB gene: a maternally inherited deletion (123841.0005) and a paternally inherited missense mutation (123841.0006).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short limb dwarfism HEAD & NECK Eyes \- White to gray sclerae SKELETAL \- Numerous multiple fractures present at birth Spine \- Scoliosis \- Kyphosis Limbs \- Bowing of limbs due to multiple fractures MOLECULAR BASIS \- Caused by mutation in the peptidyl-prolyl isomerase B gene (PPIB, 123841.0001 ) ▲ 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
|
OSTEOGENESIS IMPERFECTA, TYPE IX
|
c0268362
| 25,492 |
omim
|
https://www.omim.org/entry/259440
| 2019-09-22T16:23:53 |
{"doid": ["0110349"], "mesh": ["C536044"], "omim": ["259440"], "orphanet": ["216812", "216804", "216820", "666"], "synonyms": ["Alternative titles", "OI, TYPE IX"]}
|
Hirsch et al. (1964) observed Japanese sisters with aortic arch syndrome. This common disease in Japanese is not strikingly familial. The racial concentration of cases is not necessarily genetic. The disease is relatively frequent throughout the Orient, for example, in India among Caucasoid people of that country. Several studies suggest an autoimmune basis. A modest familial aggregation may have the same basis as that observed in other types of possible autoimmune disease, such as Hashimoto struma (140300). Hermann and Pluhor (1964) observed affected European sisters. Numano et al. (1978) reported the disorder in Japanese monozygotic twin sisters whose parents were healthy but first cousins. They reviewed several other reports of familial occurrence including 3 mother-daughter pairs, 3 sister pairs, and 2 brother-sister pairs. Numano et al. (1979) pointed out the high frequency in South America as well as in Asia. In 10 affected women in North America (7 white, 2 Korean, 1 racially mixed (white-black)), Volkman et al. (1982) found an association with MB3 and DR4. Yoshida et al. (1993) confirmed an increased frequency of HLA-B52, as reported by Isohisa et al. (1978). Furthermore, they showed that the disease-associated HLA-B alleles share an epitope composed of glu63 and ser67.
Matsuyama et al. (2003) measured circulating levels of the matrix metalloproteinases 2 (MMP2; 120360), 3 (MMP3; 185250), and 9 (MMP9; 120361) in 25 patients with Takayasu arteritis and 20 age- and sex-matched healthy controls. Levels of all 3 metalloproteinases were higher in patients with active disease than in controls (p less than 0.0001 for each), and MMP2 levels remained elevated even in remission. In contrast, an improvement in clinical signs and symptoms was associated with a marked reduction in circulating MMP3 and MMP9 levels in all patients (p less than 0.05). Matsuyama et al. (2003) concluded that MMP2 could be helpful in diagnosing Takayasu arteritis and that MMP3 and MMP9 could be used as activity markers for the disease.
Mapping
Terao et al. (2013) performed genome scanning of 167 Takayasu arteritis cases and 663 healthy controls, followed by a replication study consisting of 212 Takayasu arteritis cases and 1,322 controls. Terao et al. (2013) found that the IL12B (161561) region on chromosome 5 (rs6871626) (overall p = 1.7 x 10(-13), OR = 1.75, 95% confidence interval 1.42-2.16) and the MLX (602976) region on chromosome 17 (rs665268) (overall p = 5.2 x 10(-7), OR = 1.50, 95% confidence interval 1.28-1.76) as well as the HLA-B (142830) region (rs9263739) (a proxy of HLA-B*52:01, overall p = 2.8 x 10(-21), OR = 2.44, 95% confidence interval 2.03-2.93) exhibited significant associations. A significant synergistic effect of rs6871626 and rs9263739 was found with a relative excess risk of 3.45, attributable proportion of 0.58, and synergy index of 3.24 (p less than or equal to 0.00028) in addition to a suggestive synergistic effect between rs665268 and rs926379 (p less than or equal to 0.027). Terao et al. (2013) also found that rs6871626 showed a significant association with clinical manifestations of Takayasu arteritis, including increased risk and severity of aortic regurgitation. Terao et al. (2013) concluded that their findings indicated that IL12B plays a fundamental role in the pathophysiology of Takayasu arteritis in combination with HLA-B*52:01, and that common autoimmune mechanisms underlie the pathology of Takayasu arteritis and other autoimmune disorders such as psoriasis (see PSORS11, 612599) and inflammatory bowel diseases (see IBD19, 612278) in which IL12B is involved as a genetic predisposing factor.
Saruhan-Direskeneli et al. (2013) genotyped approximately 200,000 genetic variants in 2 ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform. Additional genetic variants and the classic HLA alleles were imputed and analyzed. Saruhan-Direskeneli et al. (2013) identified and confirmed 2 independent susceptibility loci within the HLA region (r(2) less than 0.2): HLA-B (142830)/MICA (600169) (rs12524487, OR = 3.29, p = 5.57 x 10(-16)) and HLA-DQB1 (604305)/HLA-DRB1 (142857) (rs113452171, OR = 2.34, p = 3.74 x 10(-9); and rs189754752, OR = 2.47, p = 4.22 x 10(-9)). In addition, Saruhan-Direskeneli et al. (2013) identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A (146790)/FCGR3A (146740) locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 x 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. Saruhan-Direskeneli et al. (2013) also established a genetic association between IL12B and Takayasu arteritis at rs56167332 (OR = 1.54, p = 2.18 x 10(-8)).
Limbs \- Decreased pulses, upper limbs Inheritance \- ? Autosomal recessive vs. autoimmune Vascular \- Arteritis, major aortic branches ▲ 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
|
TAKAYASU ARTERITIS
|
c0039263
| 25,493 |
omim
|
https://www.omim.org/entry/207600
| 2019-09-22T16:30:55 |
{"doid": ["2508"], "mesh": ["D013625"], "omim": ["207600"], "icd-9": ["446.7"], "icd-10": ["M31.4"], "orphanet": ["3287"], "synonyms": ["Alternative titles", "AORTIC ARCH SYNDROME", "YOUNG FEMALE ARTERITIS", "PULSELESS DISEASE"]}
|
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
## Epidemiology
CRTR-D has been reported in more than 150 individuals worldwide.
## Clinical description
The onset of symptoms occurs during infancy, usually before the age of 2 years. Males are mainly affected, but females can also have various combinations and severities of disease manifestations. CRTR-D is consistently characterized by mild to severe intellectual deficit, and expressive speech and language delay. Behavioral disorders (mainly autism and hyperactivity) are present in all affected individuals. Affected individuals often experience seizures and may present low weight gain, muscular hypotonia, and poor muscle mass. Subtle dysmorphic features such as midface hypoplasia, long face, and prominent chin have been reported in various affected male patients. Epilepsy and extrapyramidal symptoms may also occur occasionally. In adult patients, cardiac and gastrointestinal disorders have been reported. Carrier females are typically asymptomatic, but learning disabilities have been described in some.
## Etiology
CRTR-D is mostly due to frameshift and splicing mutations in the creatine transporter gene SLC6A8 (Xq28) that result in a cerebral creatine deficiency. An estimated 20% of SLC6A8 mutations can be accredited to de novo mutations, or germinal or somatic mosaicism events.
## Diagnostic methods
Diagnosis should be suspected clinically in children with DD/ID plus autistic behavior, as they are considered at risk. Diagnosis is based on the determination of urinary creatine excretion (which is elevated, particularly when measured as urinary creatine to creatinine ratio) and demonstration of creatine deficiency in the brain (as shown by magnetic resonance spectroscopy). These features are less pronounced in females. Diagnosis is confirmed by genetic testing for mutations in the SLC6A8 gene. Creatine uptake studies in cultivated fibroblasts are used to verify the pathogenetic relevance of genetic variants of unclear significance.
## Differential diagnosis
Differential diagnosis includes other disorders of creatine deficiency syndrome like guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency (see these terms). In cases with partial cerebral creatine deficiency, argininosuccinic aciduria, citrullinemia type I, and gyrate atrophy of the choroid and retina (see these terms) should be considered.
## Antenatal diagnosis
Pre-implantation or prenatal genetic diagnosis for at risk couples is possible if the mutation has been identified in an affected family member.
## Genetic counseling
CRTR-D occurs de novo or is inherited in an X-linked manner, with a carrier female having a 50% risk of transmitting the mutation to her offspring. Carrier testing for at-risk relatives in cases of family history is recommended.
## Management and treatment
Treatment with high dosages of creatine monohydrate, alone or combined with L-arginine and glycine, has resulted in clinical improvement of seizures and behavior in some patients, but in most cases, it does not appear to increase cerebral creatine. Treatment may also increase muscle mass and improve motor skills, as observed in a small cohort.
## Prognosis
CRTR-D is not a life threatening disease; however life expectancy is limited, particularly in those who have severe seizures and associated physical handicaps.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
X-linked creatine transporter deficiency
|
c1845862
| 25,494 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52503
| 2021-01-23T17:05:45 |
{"gard": ["1608"], "mesh": ["C535598"], "omim": ["300352"], "umls": ["C1845862"], "icd-10": ["E72.8"], "synonyms": ["Creatine transporter deficiency", "SLC6A8 deficiency"]}
|
A number sign (#) is used with this entry because the disorder is a contiguous gene syndrome caused by homozygous deletion of approximately 122 kilobases on chromosome 11p15-p14, which contains the genes USH1C (605242), ABCC8 (600509), and KCNJ11 (600937).
Bitner-Glindzicz et al. (2000) identified individuals from 2 consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy, and renal tubular dysfunction. All affected members in 1 family had retinitis pigmentosa; 2 of the 3 affected children in the second family had attenuated electroretinographic studies. The 2 families were not known to be related and came from different countries but shared the same common Arabic surname. The molecular basis of the disorder was found to be a homozygous deletion of 122 kilobases on chromosome 11p15-p14, including part of the ABCC8 and KCNJ11 genes and overlapping with the Usher syndrome IC (276904) and DFNB18 (602092) loci. The ABCC8 and KCNJ11 genes encode components of ATP-sensitive potassium channels and may be mutated in patients with hyperinsulinism. The enteropathy was thought to be explained by partial deletion of the USH1C gene, because immunohistochemistry showed strong positive staining in normal gut. Severe gastrointestinal symptoms included diarrhea with failure to thrive, intractable vomiting, and a feeding disorder, all with foregut dismotility. Small bowel biopsies showed changes indistinguishable from autoimmune enteropathy.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Ears \- Hearing loss, profound congenital sensorineural ABDOMEN Gastrointestinal \- Enteropathy \- Diarrhea \- Intractable vomiting \- Feeding problems \- Small bowel biopsy shows crypt hyperplastic villus atrophy, inflammatory infiltrate within the lamina propria, and disorganized surface epithelium GENITOURINARY Kidneys \- Renal tubular dysfunction ENDOCRINE FEATURES \- Hyperinsulinism LABORATORY ABNORMALITIES \- Hypoglycemia \- Generalized aminoaciduria \- Homozygous 122Kb deletion 11p15-p14 MOLECULAR BASIS \- Contiguous gene syndrome caused by homozygous deletion of approximately 122Kb on chromosome 11p15-p14 ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
HOMOZYGOUS 11p15-p14 DELETION SYNDROME
|
c1847866
| 25,495 |
omim
|
https://www.omim.org/entry/606528
| 2019-09-22T16:10:20 |
{"mesh": ["C564701"], "omim": ["606528"], "synonyms": ["Alternative titles", "HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS"]}
|
## Summary
### Clinical characteristics.
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability.
### Diagnosis/testing.
The diagnosis of CFEOM is based on ophthalmologic findings, and the subtypes depend on the identification of specific eye findings and associated findings. KIF21A pathogenic variants are associated with CFEOM1A and CFEOM3B. PHOX2A pathogenic variants are associated with CFEOM2. TUBB3 pathogenic variants are associated with CFEOM3A and CFEOM1B. TUBB2B pathogenic variants are associated with CFEOM3A and CFEOM3 with polymicrogyria.
### Management.
Treatment of manifestations: Refractive errors may be managed with glasses or contact lenses. Amblyopia can be treated effectively with occlusion or penalization of the better-seeing eye. Corneal lubrication may be helpful. Corrective eye muscle and/or ptosis surgery may be required.
Prevention of secondary complications: Amblyopia therapy to prevent vision loss in the less-preferred eye.
Surveillance: To prevent and treat amblyopia and to address complications of corneal exposure: routine ophthalmologic care with visits every three to four months during the first years of life, and annual or biannual examinations in older affected individuals not at risk for amblyopia. In individuals with specific TUBB3 variants, surveillance for endocrine abnormalities, facial or vocal cord weakness, and interventions for developmental delays are indicated.
Evaluation of relatives at risk: Early clinical diagnosis can lead to early treatment and prevention of secondary complications.
### Genetic counseling.
CFEOM is inherited in either an autosomal dominant (CFEOM1, CFEOM3, and CFEOM3 with polymicrogyria) or autosomal recessive (CFEOM2 and Tukel syndrome) manner.
* CFEOM1, CFEOM3, and CFEOM3 with polymicrogyria. An affected individual may have inherited a pathogenic variant from an affected parent or have the disorder as the result of a de novo pathogenic variant. Each child of an individual with autosomal dominant CFEOM has a 50% chance of inheriting the pathogenic variant.
* CFEOM2 and Tukel syndrome. The parents of a child with autosomal recessive CFEOM are obligate heterozygotes (i.e., carriers of one pathogenic variant). At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant(s) have been identified in an affected family member.
## Diagnosis
The term congenital fibrosis of the extraocular muscles (CFEOM) refers to several syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria [Doherty et al 1999, Nakano et al 2001, Yamada et al 2003, Aubourg et al 2005, Tukel et al 2005, Karadeniz et al 2009, Khan et al 2010, Tischfield et al 2010, Cederquist et al 2012].
### Suggestive Findings
Congenital fibrosis of the extraocular muscles (CFEOM) should be suspected in individuals with the following clinical features:
* Congenital non-progressive ophthalmoplegia (inability to move the eyes) typically with severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze
* Ptosis (droopy eyelids) that may range from mild to profound, and can be unilateral
The condition affects part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique).
Typically binocular vision is absent. Refractive errors are common.
Note: For complete description of the eye findings to aid in establishing the diagnosis of a specific form of CFEOM, see Table 1.
### Table 1.
Comparison of Types of CFEOM
View in own window
CFEOM1CFEOM2CFEOM3Tukel SyndromeCFEOM3 w/Polymicrogyria
External ophthalmo-
plegiaCongenital, non-progressive. bilateral, profound, w/limited upgazeCongenital, non-progressive, bilateral, profound, w/eyes in exotropic (outward deviating) positionCongenital, non-progressive, bilateral OR unilateral; primarily affecting muscles in the oculomotor distribution 1Congenital, non-progressive, bilateral OR unilateral; primarily affecting muscles in the oculomotor distribution 1Congenital, non-progressive, bilateral; limited upgaze
Lid positionCongenital non-progressive bilateral ptosisCongenital non-progressive bilateral ptosisNormal OR congenital non-progressive bilateral or unilateral ptosisNormal OR congenital non-progressive bilateral or unilateral ptosisCongenital non-progressive bilateral ptosis
Primary vertical position of each eyeInfraducted (downward)Normal or positioned slightly above or below midlineInfraducted or normal (primary position)Infraducted or normal (primary position)Infraducted
Vertical eye movementsInability to elevate eyes above horizontal midlineSeverely restrictedVariable restriction w/ or w/out upgaze above midlineVariable restriction w/ or w/out upgaze above midlineSeverely limited
Primary horizontal position of each eyeOrthotropic (normal), esotropic (inward), or exotropic (outward)Typically exotropic; rarely, orthotropicOrthotropic or exotropic more frequent than esotropicOrthotropic or exotropic may be more frequent than esotropicOrthotropic or exotropic
Horizontal eye movementsNormal to severely restrictedSeverely restricted; only abduction preservedNormal to severely restrictedNormal to severely restrictedVariably restricted
Aberrant eye movementsFrequent, especially both eyes turning inward on attempted upgazeSmall amplitude, if presentSometimes presentSometimes presentConvergent nystagmus w/attempted upgaze
Forced duction testPositive for restrictionPositive for restrictionPositive for restriction at least in attempted upgazePositive for restriction at least in attempted upgazePositive for restriction
Binocular visionUsually absentAbsentRarely presentRarely presentUsually absent
Refractive errorsFrequently high astigmatismFrequentCommonCommonFrequent, high astigmatism
AmblyopiaFrequent; may be strabismic or refractive in natureFrequentFrequentFrequentFrequent
PupilsNormalOften small & sluggishly reactive to lightTypically normal, occasionally small & sluggishNormalNormal
Family historyConsistent w/AD inheritance; simplex cases 2 observed; parental germline mosaicism can mimic AR inheritanceConsistent w/AR inheritanceConsistent w/AD inheritance; simplex cases 2 observed; parental germline mosaicism can mimic AR inheritanceConsistent w/AR inheritanceConsistent w/AD inheritance
GeneticsCFEOM1A: associated w/pathogenic variants in KIF21A
CFEOM1B: associated w/path variants in TUBB3Associated w/path variants in PHOX2ACFEOM3A: associated w/path variants in TUBB3 or TUBB2B
CFEOM3B: associated w/path variants in KIF21A
CFEOM3C: refers to cosegregation of CFEOM3 w/a translocation (in 1 family)Associated w/path variants in TUBB2B
Additional findingsNoneRetinal dysfunctionVariably present in CFEOM3A:
intellectual & social disability, facial weakness, vocal cord paralysis, Kallmann syndrome, cyclic vomiting, spasticity, progressive sensorimotor axonal polyneuropathy
On brain MRI:
malformations of cortical development; dysgenesis of: corpus callosum, anterior commissure, corticospinal tracts, & basal ganglia
On MRI of cranial nerves & orbits:
hypoplasia of the oculomotor nerve & levator/superior rectus musclesPostaxial oligodactyly or oligosyndactyly of the hands;
In one affected person w/an unbalanced translocation: facial dysmorphisms, kyphosis, pectus excavatum, developmental delay, & motor regressionIntellectual disability,
polymicrogyria,
microcephaly
AD = autosomal dominant; AR = autosomal recessive
1\.
In individuals not meeting CFEOM1 criteria
2\.
A single occurrence in a family
### Establishing the Diagnosis
The diagnosis of CFEOM is established in a proband with identification of a specific CFEOM phenotype and/or of a heterozygous pathogenic variant in KIF21A, TUBB3, or TUBB2B or biallelic pathogenic variants in PHOX2A by molecular genetic testing (see Table 2).
Molecular testing approaches can include serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
Serial single-gene testing can be considered if (1) a pathogenic variant in a particular gene accounts for a large proportion of the disease OR (2) additional factors (e.g., clinical findings, laboratory findings, and ancestry) indicate that a pathogenic variant in a particular gene is most likely. Sequence analysis of the gene of interest is performed first, followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
* For patients with a CFEOM1 phenotype, sequence analysis of KIF21A, followed by sequence analysis of TUBB3 should be performed. All disease-associated alleles reported in KIF21A and TUBB3 have been missense variants; thus, gene-targeted deletion/duplication analysis is not recommended.
* For patients with the CFEOM2 phenotype, sequence analysis of PHOX2A should be performed, followed by gene-targeted deletion analysis if no pathogenic variant is found.
* For patients with a CFEOM3 phenotype, sequence analysis of TUBB3 should be performed first, followed by sequence analysis of KIF21A. All disease-associated alleles reported in KIF21A and TUBB3 have been missense variants; thus, gene-targeted deletion/duplication analysis is not recommended.
A multigene panel that includes KIF21A, TUBB3, TUBB2B, PHOX2A, and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that includes KIF21A, TUBB3, TUBB2B, and PHOX2A) fails to confirm a diagnosis in an individual with features of CFEOM. For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in CFEOM
View in own window
Gene 1Proportion of CFEOM Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 2 Detected by Test Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
KIF21A~55%81/94 in CFEOM1 5
5/20 in CFEOM3 6Unknown 7
TUBB3~35%15/15 in isolated CFEOM3 8
27/27 in CFEOM3 with additional neurologic findings 9Unknown 7
PHOX2A~10%15/15 in CFEOM2 10Unknown 7
TUBB2B<1%3/3 in CFEOM3 with polymicrogyria 11Unknown 7
Unknown 12NANA
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
5\.
Yamada et al [2003], Ali et al [2004], Tiab et al [2004], Traboulsi & Engle [2004], Lin et al [2005], Shimizu et al [2005], Yamada et al [2005], Chan et al [2007], Karadeniz et al [2009], Rudolph et al [2009], Yang et al [2010], Khan et al [2011], Wang et al [2011], Luk et al [2013], Ying et al [2013], Ali et al [2014], Kaçar Bayram et al [2015]
6\.
Yamada et al [2004], Lin et al [2005], Lu et al [2008], Yang et al [2010]
7\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
8\.
Individuals who have the eye phenotype only, with no additional medical conditions. TUBB3 pathogenic variants are associated with familial and simplex occurrences of CFEOM3 [Tischfield et al 2010]; this is referred to as CFEOM3A. TUBB3 pathogenic variants are also a rare cause of CFEOM1; this is referred to as CFEOM1B.
9\.
Tischfield et al [2010], Chew et al [2013], MacKinnon et al [2014], Balasubramanian et al [2015], Whitman et al [2016]
10\.
Nakano et al [2001], Yazdani et al [2003]. PHOX2A is the only gene in which pathogenic variants are known to cause the CFEOM2 phenotype [Nakano et al 2001, Bosley et al 2006].
11\.
Cederquist et al [2012]
12\.
A three-generation family that cosegregated CFEOM3 and a balanced/unbalanced reciprocal translocation t(2;13) (q37.3;q12.11) permitted assignment of CFEOM3C, (OMIM 609384) to 13q27.3 [Aubourg et al 2005]. A genome-wide linkage screen of a large consanguineous family whose affected members have a CFEOM3 phenotype and postaxial oligodactyly/oligosyndactyly of the hands, referred to as Tukel syndrome (OMIM 609428), mapped the locus to a 1.5-Mb region on chromosome 21qter [Tukel et al 2005]. See also Shinwari et al [2015].
## Clinical Characteristics
### Clinical Description
Congenital fibrosis of the extraocular muscles (CFEOM) refers to complex strabismus (eye misalignment) syndromes characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). Magnetic resonance imaging (MRI) suggests that the abducens and optic nerves can also be hypoplastic [Demer et al 2005, Wu et al 2009, Demer et al 2010].
Strabismus is the deviation of the position of one eye relative to the other, resulting in misalignment of the line of site of the two eyes. Individuals with CFEOM typically have incomitant strabismus, in which their misalignment varies with gaze direction. Incomitant strabismus often results from mechanical dysfunction in the orbit or neuromuscular dysfunction at the level of the brain stem, nerve, or muscle. The resting eye position of an individual with CFEOM is often abnormal. In general, hypotropic (downward) and exotropic (outward) positions are more common than hypertropic (upward) and esotropic (inward) positions. Strabismus in individuals with CFEOM can vary within a single family, and this can be particularly remarkable among affected members of families with CFEOM3. Among families with CFEOM1, the vertical strabismus is quite uniform, but the horizontal strabismus can vary.
Congenital non-progressive external ophthalmoplegia. Individuals with CFEOM are born with a severe form of incomitant strabismus referred to as ophthalmoplegia (inability to move the eyes) caused by dysfunction of specific ocular muscles innervated by the oculomotor and trochlear nerves. In general, affected individuals have severe limitation of vertical gaze and variable limitation of horizontal gaze. Individuals with CFEOM compensate for the ophthalmoplegia by maintaining an abnormal head position at rest and by moving their heads rather than their eyes to track objects.
Ptosis is the drooping of the upper eyelid as a result of dysfunction of the levator palpabrae superioris. Individuals with CFEOM often have a compensatory chin-up head posture to both better position their infraducted eyes and to "see under" their droopy lids.
Refractive errors are common but not characteristic.
Amblyopia. Strabismus (with suppression of one eye), refractive error, and ptosis may cause amblyopia, which can lead to permanent loss of vision when untreated.
CNS malformations. Some individuals with CFEOM have been reported to have central nervous system malformations, including agenesis or hypoplasia of the corpus callosum, brain stem hypoplasia, cerebellar hemisphere hypoplasia, absence of the cerebral peduncle in the midbrain, colpocephaly, hypoplasia of the cerebellar vermis, expansion of the ventricular system, pachygyria, polymicrogyria, encephalocele, and/or hydrancephaly [Flaherty et al 2001, Pieh et al 2003, Harissi-Dagher et al 2004]. The CFEOM phenotype in most of these individuals is atypical and meets the criteria of CFEOM3. Other CNS findings include hypoplastic oculomotor nerves, dysmorphic basal ganglia with or without internal capsule hypoplasia, and agenesis or hypoplasia of the anterior commissure [Demer et al 2010, Tischfield et al 2010, Cederquist et al 2012, Chew et al 2013, Balasubramanian et al 2015, Whitman et al 2016].
Non-ocular findings in a subset of individuals with CFEOM3 include facial paralysis, spasticity, cognitive and behavioral impairments, and a later-onset progressive peripheral sensorimotor axonal polyneuropathy, joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism with anosmia), and cyclic vomiting [Tischfield et al 2010, Chew et al 2013].
Marcus Gunn phenomenon and other evidence of misinnervation have been reported in individuals with CFEOM [Pieh et al 2003, Yamada et al 2005, Kaçar Bayram et al 2015]. The Marcus Gunn jaw winking phenomenon manifests as the momentary elevation of a ptotic upper eyelid with specific movements of the jaw. Often first noted in young infants when they are feeding, the phenomenon results from aberrant innervation of the levator palpebrae superioris muscle by axons intended to run in the motor branch of the trigeminal nerve and to innervate the pterygoid muscle. The association of this finding with CFEOM provides additional evidence that these syndromes are primarily neurogenic in cause [Brodsky 1998, Pieh et al 2003].
Tukel syndrome. Affected members of the family with CFEOM3 that maps to the Tukel syndrome locus also manifest bilateral postaxial oligodactyly/oligosyndactyly of the hands, more severe on the right.
### Genotype-Phenotype Correlations
Each form of CFEOM has a defined phenotype.
KIF21A pathogenic variants are associated with CFEOM1 and rare cases of CFEOM3. Clinical examinations and high-resolution orbital MRI of individuals with CFEOM1 resulting from several different specific KIF21A pathogenic variants did not reveal a correlation between any specific pathogenic variant and clinical phenotype [Yamada et al 2003, Demer et al 2005].
PHOX2A pathogenic variants are associated with CFEOM2. No correlation between specific PHOX2A pathogenic variants and specific aspects of the CFEOM2 phenotype has been found.
TUBB3 pathogenic variants are associated with CFEOM1B or CFEOM3. Correlations have been found between specific TUBB3A pathogenic variants and the clinical phenotype [Tischfield et al 2010, Chew et al 2013, Whitman et al 2016]:
* c.185G>A (p.Arg62Gln): moderate CFEOM3. Brain MRI: normal. No developmental delays or intellectual disability.
* c.784C>T (p.Arg262Cys): mild to severe CFEOM3 or CFEOM1B. Brain MRI: anterior commissure hypoplasia, mild corpus callosum hypoplasia, mild basal ganglia dysgenesis. No developmental delays or intellectual disability.
* c.785G>A (p.Arg262His): severe CFEOM3, developmental delay, facial weakness, progressive axonal sensorimotor polyneuropathy, congenital joint contractures. Brain MRI: anterior commissure hypoplasia, corpus callosum hypoplasia, basal ganglia dysgenesis.
* c.904G>A (p.Ala302Thr): variable CFEOM3, developmental delay. Brain MRI: anterior commissure hypoplasia, corpus callosum hypoplasia.
* c.1138C>T (p.Arg380Cys): moderate CFEOM3, developmental delay. Brain MRI: anterior commissure hypoplasia, corpus callosum hypoplasia, basal ganglia dysgenesis
* c.1249G>A (p.Asp417Asn): mild to severe CFEOM3 or CFEOM1B, weakness, progressive axonal sensorimotor polyneuropathy. Brain MRI: anterior commissure hypoplasia, mild corpus callosum hypoplasia, mild basal ganglia dysgenesis.
* c.1249G>C (p.Asp417His): severe CFEOM3, developmental delay, facial weakness, progressive axonal sensorimotor polyneuropathy, congenital joint contractures. Brain MRI: anterior commissure hypoplasia.
* c.1228G>A (p.Glu410Lys): severe CFEOM3, developmental delay, facial weakness, midface hypoplasia, Kallmann syndrome (hypogonadotropic hypogonadism with anosmia), progressive sensorimotor polyneuropathy, vocal cord paralysis, and cyclic vomiting. Brain MRI: anterior commissure hypoplasia, corpus callosum hypoplasia, basal ganglia dysgenesis, hypoplastic to absent olfactory bulbs, olfactory sulci, and oculomotor and facial nerves.
* c.211G>A (p.Gly71Arg): moderate CFEOM3, developmental delay, hypotonia, thinning or agenesis of corpus callosum, increased and abnormal cortical gyration, basal ganglia and thalamus dysgenesis, brain stem hypoplasia, incomplete rotation of hippocampus, hypoplasia of optic and oculomotor nerves
* c.292G>A (p.Gly98Ser): moderate CFEOM3, developmental delay, hypotonia, thinning of corpus callosum, increased and abnormal cortical gyration, basal ganglia and thalamus dysgenesis, brain stem hypoplasia, incomplete rotation of hippocampus, cerebellar vermis hypoplasia with dysmorphic folia, hypoplasia of optic and oculmotor nerves
Many persons with CFEOM3 who have a TUBB3 pathogenic variant also have aberrant eye movements and several have ptotic eyelid elevation associated with synkinetic jaw movements (Marcus Gunn phenomenon). However, the Marcus Gunn phenomenon has also been reported in association with a KIF21A -related CFEOM.
TUBB2B. Only one pathogenic variant (c.1261G>A, p.Glu421Lys) has been associated with both CFEOM and polymicrogyria. Seven other pathogenic variants are associated with polymicrogyria without CFEOM.
### Penetrance
Penetrance in CFEOM1A, CFEOM1B, CFEOM2, CFEOM3B, CFEOM3C, and Tukel syndrome is complete.
Penetrance in CFEOM3A can be incomplete and is estimated to be 90% in families harboring the c.784C>T (p.Arg262Cys) substitution [Doherty et al 1999].
### Nomenclature
Although long felt to result from primary fibrosis of the extraocular muscles, neuroanatomic [Engle et al 1997, Tischfield et al 2010], genetic [Nakano et al 2001, Yamada et al 2003, Tischfield et al 2010], and neuroimaging [Demer et al 2005, Kim & Hwang 2005, Bosley et al 2006, Lim et al 2007, Wu et al 2009, Demer et al 2010] findings suggest that the various forms of CFEOM result from abnormal development of ocular motor neurons and their processes.
### Prevalence
A minimum prevalence of CFEOM is 1:230,000 [Reck et al 1998].
CFEOM1 and CFEOM3 familial and simplex cases have been identified worldwide.
The few individuals reported with CFEOM2 have been offspring of consanguineous unions within Saudi, Turkish, and Iranian families [Traboulsi & Engle 2004].
## Differential Diagnosis
The term "congenital cranial dysinnervation disorders (CCDDs)" was coined to refer to disorders of innervation of cranial musculature [Gutowski et al 2003]. The various forms of CFEOM are included in the CCDDs. Other CCDDs include Duane syndrome, Moebius syndrome, and congenital facial palsy.
The following conditions can be confused with CFEOM:
Brown syndrome ("superior oblique tendon sheath syndrome") is characterized by the inability to elevate the adducted eye actively or passively. Most congenital Brown syndrome is simplex (i.e., a single occurrence in a family) and believed to result from anomalies of the tendon or the trochlear apparatus. Rare familial cases have been reported [Iannaccone et al 2002].
Duane syndrome is characterized by horizontal eye movement limitation, narrowing of the palpebral fissure on attempted side gaze (usually adduction), and retraction of the globe on attempted adduction. It is believed to result from abnormal development of the abducens nucleus and nerve (cranial nerve VI).
Although the majority of cases of Duane syndrome are simplex and isolated (i.e., not associated with other malformations), rare families with autosomal dominant or autosomal recessive inheritance of Duane syndrome with or without accompanying anomalies have been reported:
* An autosomal dominant locus for Duane syndrome was mapped by linkage analysis to 2q31 (DURS2, OMIM 604356). All affected individuals had bilateral Duane syndrome type 1 or type 3; the prevalence of manifest strabismus and amblyopia was high. Heterozygous missense changes in CHN1 that cosegregated with the affected haplotypes were identified [Miyake et al 2008]. All were predicted to alter amino acids that were conserved in eight different species. CHN1 was subsequently found not to be a common cause of sporadic Duane syndrome [Miyake et al 2010].
* A contiguous gene deletion syndrome with Duane syndrome is located on 8q13 (DURS1, OMIM 126800).
* SALL4-related disorders. The SALL4-related syndromes include Okihiro syndrome, Duane-radial ray syndrome, acro-renal-ocular syndrome, and IVIC syndrome. These overlapping syndromes are characterized by unilateral or bilateral Duane syndrome and radial ray malformations that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly). Deafness, renal anomalies, and imperforate anus can be coinherited. Inheritance is autosomal dominant.
Heterozygous SALL4 pathogenic variants are associated with most familial cases of these syndromes [Al-Baradie et al 2002, Kohlhase et al 2002]. Individuals who represent simplex cases of isolated Duane syndrome have not been found to harbor pathogenic variants in SALL4 [Wabbels et al 2004]. However, some members of families segregating a SALL4-related disorder have been found to harbor a SALL4 pathogenic variant and to manifest isolated Duane syndrome (without hand or other anomalies) [Al-Baradie et al 2002].
* Athabaskan brain stem dysgenesis syndrome (ABDS) [Holve et al 2003] and Bosley-Salih-Alorainy syndrome (BSAS) [Tischfield et al 2005] (OMIM 601536) are autosomal recessive disorders that result from pathogenic variants in HOXA1 [Tischfield et al 2005]. They are characterized by Duane syndrome type III or horizontal gaze palsy and, in most individuals, bilateral sensorineural hearing loss caused by absent cochlea and rudimentary inner ear development. Depending on the specific syndrome (ABDS vs. BSAS), a subset of individuals manifests intellectual disability, autism, moderate to severe central hypoventilation, facial weakness, swallowing difficulties, vocal cord paresis, conotruncal heart defects, and skull and craniofacial abnormalities.
Chronic progressive external ophthalmoplegia (CPEO) is characterized by chronic progressive loss of extraocular eye movements and ptosis.
Mitochondrial DNA deletion syndromes comprise three overlapping phenotypes, which may be observed in different members of the same family or may evolve in a given individual over time. The three phenotypes are: Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). These syndromes are caused by mtDNA deletions ranging in size from two to ten kilobases.
* KSS is defined by the triad of onset before age 20 years, pigmentary retinopathy, and PEO. Individuals additionally have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Approximately 90% of individuals with KSS have a large-scale (i.e., 1.3- to 10-kb) mtDNA deletion that is usually present in all tissues; however, mutated mtDNA is often undetectable in blood cells, necessitating examination of muscle.
* Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction. In Pearson syndrome, mtDNA deletions are usually more abundant in blood than in other tissues.
* PEO is characterized by progressive ptosis, paralysis of the extraocular muscles (ophthalmoplegia), and variably severe proximal limb weakness.
Other disorders associated with ophthalmoplegia include (with distinguishing features) the following:
* Myasthenia gravis (fluctuating weakness and diplopia); see Congenital Myasthenic Syndromes.
* Oculopharyngeal muscular dystrophy (late-onset severe dysphagia, autosomal dominant inheritance; caused by an expansion of a GCG trinucleotide repeat in the first exon of PABPN1, the gene encoding polyadenylate binding protein nuclear 1)
* Myotonic dystrophy type 1 (myotonia, autosomal dominant inheritance; caused by expansion of a CTG trinucleotide repeat in DMPK)
* Mendelian PEOs associated with multiple deletions of mtDNA caused by pathogenic variants in the nuclear genes SLC25A4, PEO1, POLG, and TMPO (autosomal dominant or recessive inheritance; affective disorders, gastrointestinal dysmotility); see POLG-Related Disorders.
* Maternally inherited PEOs caused by various mtDNA pathogenic variants
Cranial nerve III and IV palsy. Few reports of congenital familial third-nerve palsy or fourth-nerve palsy exist. The etiologies of these disorders are unknown.
Horizontal gaze palsy with progressive scoliosis (HGPPS) (OMIM 607313) is characterized by congenital horizontal gaze palsy (no horizontal eye movements) with progressive scoliosis inherited in an autosomal recessive manner and caused by pathogenic variants in ROBO3 [Jen et al 2004]. Compound heterozygous ROBO3 pathogenic variants have also been identified in children of nonconsanguineous parents [Chan et al 2006]. Results of neuroimaging and neurophysiology studies undertaken on individuals with HGPPS found that the axons that make up the major motor and sensory pathways for communication between the brain and the body fail to cross the midline in the hindbrain [Jen et al 2004, Bosley et al 2005].
Moebius syndrome (MBS) (OMIM 157900) is characterized by facial weakness or diplegia with ocular abduction deficit.
* The vast majority of individuals with Moebius syndrome represent simplex cases and many are associated with developmental defects of additional lower cranial nerves and distal extremities.
* Moebius sequence has also been reported in association with congenital non-progressive myopathy and Robin sequence (OMIM 254940)
Hereditary congenital facial paresis, the isolated dysfunction of the facial nerve, maps to chromosome 3q (locus HCFP1) (OMIM 601471) and chromosome 10q (locus HCFP2) (OMIM 604185).
Other. CFEOM has been identified in one individual with Noonan syndrome [Elgohary et al 2005].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with congenital fibrosis of the extraocular muscles, the following evaluations are recommended:
* Consultation with a clinical geneticist and/or genetic counselor
* Ophthalmologic examination
* Determination of resting gaze position, head position with eyes in resting gaze position, and vertical and horizontal gaze restrictions
* Evaluation for aberrant movements including synergistic convergence and divergence, globe retraction, Marcus Gunn jaw wink
* Palpebral fissure size measurement
* Anterior segment evaluation to detect corneal exposure
* Levator function testing
* Optional forced duction testing
* Refraction, including cycloplegic refraction in children
* Photographic documentation for future comparison
* Neuroimaging suggested if there are any additional neurologic symptoms or developmental delays
* Strongly recommended if eye muscle surgery is planned:
* Brain and brain stem MRI scan to determine the size and/or course of the oculomotor and trochlear nerves
* High-resolution orbital MRI (1- to 3-mm cuts) to detect abnormalities in the size and/or course of the extraocular muscle(s) and atrophy of the superior rectus-levator complex
### Treatment of Manifestations
Nonsurgical treatment of ophthalmologic findings:
* Refractive errors may be managed with spectacles or contact lenses. Specialist examination is required to detect refractive errors early in life, when affected individuals may be asymptomatic, to prevent amblyopia and avoid compounding the motility problem with a focusing problem.
* Amblyopia can be treated effectively with occlusion or penalization of the better-seeing eye. Early detection (in the first years of life) maximizes the likelihood of a good response to treatment.
* Lubrication of ocular surface (particularly cornea) may be required. In cases of severe exposure, a PROSE lens can be of significant benefit [Papakostas et al 2015].
Surgical treatment of ophthalmologic findings (extraocular muscle and/or ptosis surgery):
* Correction of ptosis
* Eye muscle surgery
* To correct or improve a compensatory head posture
* To improve alignment in primary gaze position
* To improve ambulation and gross motor development in young children
* Principles of surgical approach:
* Orbital imaging is recommended before surgery to assess muscle size and position.
* Extraocular muscles may be found at surgery to be attached in unexpected locations.
* Resections or plications may be helpful in some cases to provide traction against large recessions during healing.
* Surgery is likely to be technically difficult because of tightness of rectus muscles.
* Recessions need to be larger – sometimes considerably larger – than indicated by standard tables, especially recessions of the inferior rectus muscles.
* Dysinnervation causing esotropia in attempted upgaze may mask an underlying exotropia that will be unmasked after inferior rectus muscle weakening.
* Inferior rectus muscle weakening may be enhanced by superior oblique weakening.
* Profound weakening procedures (e.g., suturing muscle to orbital rim, rectus muscle myectomy) may be necessary.
* Botulinum toxin may be helpful for residual misalignment in some cases.
### Prevention of Secondary Complications
The following are appropriate:
* Amblyopia therapy to prevent vision loss in the less-preferred eye
* Eye lubrication to avoid dry eyes, particularly following ptosis surgery but also after successful strabismus surgery in some cases
* Surgical repositioning of the eyes and lids to help correct head position and alleviate secondary musculoskeletal complications from chronic head turn
### Surveillance
CFEOM is congenital and is believed to be non-progressive.
Surveillance is important for prevention of amblyopia, and to treat amblyopia and complications of corneal exposure [Yazdani & Traboulsi 2004].
Routine ophthalmologic care is indicated, with visits every three to four months during the first years of life, and annual or biannual examinations in affected individuals not at risk for amblyopia.
In individuals with specific TUBB3 variants, surveillance for endocrine abnormalities, facial or vocal cord weakness, and interventions for developmental delays are indicated.
### Evaluation of Relatives at Risk
It is appropriate to evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures.
* If the pathogenic variant(s) in the family are known, molecular genetic testing can be used to clarify the genetic status of at-risk relatives.
* If the pathogenic variant(s) in the family are not known, clinical ophthalmologic exam can be used to clarify the disease status of at-risk relatives.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital Fibrosis of the Extraocular Muscles
|
c1302995
| 25,496 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1348/
| 2021-01-18T21:33:25 |
{"mesh": ["C580012"], "synonyms": ["CFEOM"]}
|
## Description
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
Clinical Features
Wei et al. (2004) reported a large 4-generation family from the Anhui province in China with disseminated superficial porokeratosis (DSP). The youngest affected individual was a girl who developed annular brown scaling lesions with central atrophy in a linear array on her right arm at age 10 years, consistent with linear porokeratosis. The lesions slowly increased in size and number, and she later developed lesions on the finger of her right hand and neck. Histopathologic examination showed cornoid lamella with absent granular layers below the parakeratotic column. Examination of family members revealed 10 affected individuals, including the proband's father, all of whom developed 0.3 to 0.5-cm annular lesions initially on their faces at age 20 years or younger. The lesions slowly evolved onto the limbs, chest, and back. As the disease progressed, the lesions grew to 0.5 to 1 cm, with an elevated slightly dark-brown border and slightly atrophic center. Wei et al. (2004) noted that, except for the girl who had linear porokeratosis, all affected family members had lesions in sun-exposed as well as non-sun-exposed areas.
Mapping
By genomewide linkage analysis of a Chinese family with disseminated superficial porokeratosis, Wei et al. (2004) identified an 18.7-cM (5.6-Mb) region on chromosome 18p11.3 between the telomere and D18S391 (maximum 2-point lod score of 4.82 at D18S1138).
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Porokeratosis \- Annular lesions (3 mm to 1 cm in diameter) located on the face, neck, trunk and limbs \- Papules enlarge centrifugally to form central atrophic area with an irregular peripheral keratotic ridge \- Linear porokeratosis (1 patient) Skin Histology \- Cornoid lamella \- Keratotic ridge is column of parakeratotic cells overlying absent granular layer MISCELLANEOUS \- Onset before age 20 years \- Lesions increase in size and number with age \- One Chinese family has been reported (last curated October 2012) ▲ 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
|
POROKERATOSIS 6, MULTIPLE TYPES
|
c0265970
| 25,497 |
omim
|
https://www.omim.org/entry/612353
| 2019-09-22T16:01:46 |
{"mesh": ["D017499"], "omim": ["612353"], "orphanet": ["79152"], "synonyms": ["Alternative titles", "POROKERATOSIS 6, DISSEMINATED SUPERFICIAL", "POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4"]}
|
Ulna fracture
Monteggia Fracture (type of ulna fracture)
Types
* Nightstick fracture[1]
* Monteggia fracture[2]
* Galeazzi facture[2]
An ulna fracture is a break in the ulna bone, one of the two bones in the forearm.[2] It is often associated with a fracture of the other forearm bone, the radius.[1][3]
An ulna fracture can be a single break as in a so called nightstick fracture, which can be caused by someone being hit on the inside of the forearm often by a stick, notably when they are holding their arm up to protect their head from injury.[2][4] The ulna bone can also break after falling on the forearm or falling on an outstretched arm.[2]
Ulna fractures are more common in both men and women before age 40 and women after age 60. Adolescents who play sports are at higher risk.[5]
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Types
* 3 Treatment
* 4 Epidemiology
* 5 History
* 6 References
## Cause[edit]
An ulna fracture can be a single break as in a so called "nightstick fracture", which can be caused by someone being hit on the inside of the forearm often by a stick, notably when they are holding their arm up to protect their head from injury.[2][4] An ulna fracture can also result from falling on the forearm or falling on an outstretched arm.[2]
Other causes of ulna fractures include sporting injuries, road traffic incidents, falls from a height, and conditions such as osteoporosis and potentially both primary and secondary cancer.[5]
## Diagnosis[edit]
The diagnosis of an ulna fracture is made after taking the persons history, which usually includes a history of forearm pain following trauma, and then examining the injured forearm followed by an x-ray of the relevant part.[5]
### Types[edit]
Fractures of the ulna can occur at different levels of the bone: near the wrist, in the middle or near the elbow.[2] The fracture may be confined to the ulna or accompanied with damage to the radius or the wrist or elbow joints.[2]
* Nightstick fracture is a fracture of the middle portion of the ulna without other fractures.[1]
* Distal ulna fractures typically occur along with distal radius fractures.[3]
* Hume fracture \- a fracture of the olecranon with an associated anterior dislocation of the radial head.[6]
* Monteggia fracture \- a fracture of the near to elbow end of the ulna with the dislocation of the head of the radius at the elbow joint.[2]
* Galeazzi facture \- not a fracture of the ulna but a displaced fracture of the radius accompanied by a dislocation of the ulna at the wrist, where the radius and ulna come together.[2]
* Monteggia Fracture (fracture of proximal ulna)
* Galeazzi facture (displaced fracture of the radius)
## Treatment[edit]
If the fracture is not displaced, is stable, and is not associated with another fracture, it may be treated with a cast for around five to six weeks.[2] During the recovery period healing can be followed up with x-rays.[2] Heavy lifting should be avoided.[2] After the cast has been removed exercises are encouraged and full strength is regained over time.[2] Treatment may may also be with splinting and early movement.[1]
When there is a displaced fracture and also when the radioulnar joints are involved an operation is often performed, using either flexible rods or screws and plates in order to reduce the fracture and immobilise the bone.[2]
## Epidemiology[edit]
Ulna fractures are more common in both men and women before age 40 and women after age 60, which is related to osteoporosis. Adolescents who play sports are also particularly at risk of an ulna fracture.[5]
## History[edit]
Early 20th century police truncheons (nightsticks) in the Edinburgh Police Centre Museum
The term "nightstick fracture" originated from the notion that a person hit by a police truncheon would hold their arms up to protect their heads from injury. Historically they were treated without surgery, but this resulted in a high risk of the broken parts not joining properly, unless the broken parts were generally aligned and the skin intact.[7]
## References[edit]
1. ^ a b c d Cai, X.-Z.; Yan, S.-G.; Giddins, G. (n.d.). "A systematic review of the non-operative treatment of nightstick fractures of the ulna". The Bone & Joint Journal. 95-B (7): 952–959. doi:10.1302/0301-620X.95B7.31669. ISSN 2049-4408. PMID 23814249.
2. ^ a b c d e f g h i j k l m n o p "Ulna and Radius Fractures (Forearm Fractures)". www.hopkinsmedicine.org.
3. ^ a b Richards, Todd A.; Deal, D. Nicole (2014). "Distal ulna fractures". The Journal of Hand Surgery. 39 (2): 385–391. doi:10.1016/j.jhsa.2013.08.103. ISSN 1531-6564. PMID 24411292.
4. ^ a b "Nightstick fracture (ulna) | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 6 December 2020.
5. ^ a b c d Small, Roy F.; Yaish, Amjad M. (2020). "Radius and Ulnar Shaft Fractures". StatPearls. StatPearls Publishing.
6. ^ Mohindra, Mukul; Jain, Jitesh Kumar (2017). "20. Synopsis of orthopaedics". Fundamentals of Orthopedics. JP Medical Ltd. p. 495. ISBN 978-93-5270-132-2.
7. ^ Davis, Donald D.; Kane, Steven M. (2020), "Nightstick Fracture", StatPearls, StatPearls Publishing, PMID 32310411, retrieved 22 December 2020
* v
* t
* e
Bones of the arm
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* conoid tubercle
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Scapula
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* supracondylar ridges (lateral, medial)
* fossae (radial, coronoid, olecranon)
Forearm
Radius
* near elbow (head, tuberosity)
* near wrist (ulnar notch, styloid process, Lister's tubercle)
Ulna
* near elbow (tuberosity, olecranon, coronoid process, radial notch, trochlear notch)
* near wrist (styloid process)
Hand
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* scaphoid
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* capitate
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* hamulus
Metacarpal bones
* 1st
* 2nd
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* 4th
* 5th
Phalanges
* proximal
* intermediate
* distal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ulna fracture
|
c0041601
| 25,498 |
wikipedia
|
https://en.wikipedia.org/wiki/Ulna_fracture
| 2021-01-18T18:39:37 |
{"mesh": ["D014458"], "umls": ["C0041601"], "wikidata": ["Q47524797"]}
|
The lead section of this article may need to be rewritten. Use the lead layout guide to ensure the section follows Wikipedia's norms and is inclusive of all essential details. (March 2011) (Learn how and when to remove this template message)
Jersey finger, also known as rugby finger, is a finger-related tendon injury that is common in athletics and can result in permanent loss of flexion of the end of the finger if not surgically repaired. The injury is common when one athlete grabs another player's jersey with the tips of one or more fingers while that player is pulling or running away.[1] It is the most common closed flexor tendon injury and occurs in the ring finger in 75% of cases.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Anatomy
* 4 Treatment
* 5 References
## Signs and symptoms[edit]
* A pop or rip felt in the finger at the time of the injury
* Pain when moving the injured finger and the inability to bend the DIPjoint
* Tenderness, swelling. and warmth of the injured finger
* Bruising after 48 hours
* Occasionally a lump felt in the palm of the finger[3]
* Mallet finger deformity
## Cause[edit]
A Jersey finger is a traumatic rupture of the flexor digitorum profundus (FDP) tendon at its point of attachment to the distal phalanx.[4] This injury often occurs in American football when a player grabs another player's jersey with the tips of one or more fingers while that player is pulling or running away.[5] The force of this action hyperextends the tip of the finger at the DIP joint while the proximal portion of the finger is flexed. This action can partially or completely rupture the FDP tendon at or near its attachment point on the distal phalanx. Sometimes, the force is great enough to pull off or avulse a piece of phalangeal bone to which the tendon can remain attached.[6] Although it is a common football injury, this injury can occur during other sports or activities as well.
After the injury occurs, the torn FDP tendon may retract slightly, remaining in the finger near the PIP joint, or can retract more fully into the palm of the hand. A person who suffers a jersey finger injury in which the FDP tendon is completely ruptured cannot flex the affected digit at the DIP joint without assistance.
## Anatomy[edit]
All four non-thumb digits (index finger, middle finger, ring finger and little finger) contain three bones called the phalanges that are aligned in a linear row like box cars in a train. These bones are designated the proximal phalanx (closest to the palm), the middle phalanx, and the distal phalanx (farthest from the palm). The joints between these bones are referred to as the proximal interphalangeal joint (PIP, between the proximal and middle phalanx) and the distal interphalangeal joint (DIP, between the middle and distal phalanx). muscles that begin in the forearm send long tendons to the fingers and these tendons attach at different points on these bones. Flexing and extending these digits occurs when these muscles contract and their tendons pull on their bony attachments. The deepest of the flexor muscles in the anterior forearm is called the flexor digitorum profundus muscle (FDP); it gives off four tendons that travel through the carpal tunnel into the hand and attach to the distal phalanx in each of the four non-thumb digits.
## Treatment[edit]
The classically used Leddy and Packer Classification[7] classifies Jersey finger tendon injuries based on the degree of tendon injury, retraction, and presence of a concomitant fracture.
Class Description Treatment
I Vincula ruptured with tendon retraction to palm Primary tendon repair within 10 days
II Vincula intact with tendon retraction to proximal interphalangeal joint Primary tendon repair within 10 days (but may be delayed)
III Fracture fragment retains tendon at distal interphalangeal joint Repair of fracture fragment (6 weeks)
IV Fracture fragment has tendon avulsed off and retracted Repair of fracture fragment and tendon repair (12 weeks)
Often, surgical pins are inserted into the injured digit to stabilize the bone and tendon in their proper alignment.[8] Post surgical complications can include infection, pin failure and nail and joint deformity. Surgery is often accompanied by a rehabilitation protocol to strengthen the injured muscle and help the patient regain as much range of motion (ROM) as possible at the affected joint. The finger may never return normal extension or range of motion (ROM).
Repair is commonly done under local anesthesia and a Bruner approach is utilized. Local anesthetic is injected prior to draping and again prior to incision for augmentation of the first injection. An incision is made along the finger and the subcutaneous tissue is dissected to the depth of the flexor sheath. The ruptured tendon is identified, and a tag stitch is placed, next the tendon is pulled through the pulleys using a shoehorn technique. The flexor tendon is then reattached to the distal phalanx using the pants-over-vest technique using a suture anchor repair and over-the-top and pull-out repair. Adequate repair is assessed by asking the patient to make a fist and then wound closure is done. [9]
## References[edit]
1. ^ Abrego, Mariano O.; Shamrock, Alan G. (2020), "Jersey Finger", StatPearls, StatPearls Publishing, PMID 31424875, retrieved 2020-05-04
2. ^ "Jersey Finger - Hand - Orthobullets". www.orthobullets.com. Retrieved 2020-05-04.
3. ^ Tuttle, Harrison G., MD, et al. Tendon Avultion Injuries of the Distal Phalanx. Clinical Orthopaedics and Related Research. April 2006. No. 445. Pp. 157-168.
4. ^ CHT, Lori Algar OTD, OTR/L. "Jersey Finger: Treatment For a Common Contact Sport Injury". www.3pointproducts.com. Retrieved 2020-05-04.
5. ^ Wang, Quincy C., MD, and Johnson, Brett A., MD. Fingertip Injuries. American Family Physician. May 15, 2001. Vol. 63, Number 10. Pp. 1961-1966.
6. ^ Shabat, Shay; Sagiv, Paul; Stern, Avi; Nyska, Meir (2002). "Avulsion fracture of the flexor digitorum profundus tendon ('Jersey finger') type III". Archives of Orthopaedic and Trauma Surgery. 122 (3): 182–183. doi:10.1007/s00402-001-0352-9. ISSN 0936-8051.
7. ^ Henry, SL; Katz, MA; Green, DP (2009). "Type IV FDP avulsion: lessons learned clinically and through review of the literature". Hand (N Y). 4 (4): 357–61. doi:10.1007/s11552-009-9199-2. PMC 2787222. PMID 19399559.
8. ^ Kovacic, Jeffrey; Bergfeld, John (2005). "Return to Play Issues in Upper Extremity Injuries". Clinical Journal of Sport Medicine. 15 (6): 448–452. doi:10.1097/01.jsm.0000188208.00727.0b. ISSN 1050-642X.
9. ^ [1], Ilyas A, Drummey R. Jersey Finger Repair. J Med Ins. 2020;2020(297) doi:https://jomi.com/article/297
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Jersey Finger
|
None
| 25,499 |
wikipedia
|
https://en.wikipedia.org/wiki/Jersey_Finger
| 2021-01-18T18:35:52 |
{"wikidata": ["Q6184856"]}
|
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