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A number sign (#) is used with this entry because of evidence that isolated omphalocele can be caused by duplication of genes on chromosome 1p31.
Description
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.
Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Clinical Features
DiLiberti (1982) reported a family with multiple cases of omphalocele and abdominal wall hernias in an apparent autosomal dominant pedigree pattern. Males in 3 successive generations had umbilical hernia, sometimes with inguinal hernia, and 2 girls in the most recent (fourth) generation had omphalocele. DiLiberti (1982) provided a review of the literature and noted that cases of familial omphalocele had a much lower incidence of associated nongastrointestinal malformation than did sporadic cases.
Pryde et al. (1992) described a woman in which infants born of each of 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the woman nor her partners had a history of relatives with omphalocele, although the woman's brother and his son had 'large umbilical hernia' requiring repair in infancy. One of the 5 pregnancies resulted in spontaneous abortion at 16 weeks. The other 4 were associated with precocious labor and prematurity, with the longest survival being 5 months.
Inheritance
Familial occurrence of omphalocele has been reported. Osuna and Lindham (1976) reported 4 cases of isolated omphalocele in 2 generations of a family. Rott and Truckenbrodt (1974) observed uncomplicated omphalocele in a brother and sister. Kapur et al. (1980) described omphalocele in half sibs, a boy and girl born to unrelated mothers and a phenotypically normal father. They concluded that this malformation, when independent of other abnormalities, is probably multifactorial. Lurie and Ilyina (1984) reported 3 cases of familial omphalocele and noted that recurrence risk is likely lower than that seen in their series as it is based on families referred for genetic counseling.
Based on data from the Hungarian Congenital Malformation Register between 1970 and 1976, Czeizel (1979) reported that after isolated omphalocele the recurrence risk in families is less than 1%. Based on epidemiologic reports, Lowry and Baird (1982) concluded that the recurrence risk in families is extremely low.
Using a population-based analysis of 82 cases of omphalocele, Yang et al. (1992) concluded that an autosomal recessive pattern of inheritance could be applied to families with isolated omphalocele. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best.
Kanagawa et al. (2002) reported a family with 9 individuals over 3 generations affected with an omphalocele requiring surgical intervention within the first few days of life. Because of the vertical transmission and male-to-male inheritance, the authors concluded that an autosomal dominant gene was responsible.
Population Genetics
Calzolari et al. (1995) reported that a total of 732 cases of omphalocele and 274 cases of gastroschisis (230750) were registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980 to 1990. The total prevalence rates were 2.52 per 10,000 and 0.94 per 10,000, respectively. There was significant geographic heterogeneity in the prevalence rates. Consistently higher than average rates of omphalocele were found in the 5 centers in the British Isles. This was in large part the result of the association between omphalocele and neural tube defects. They observed a significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele. Geographic differences in the prevalence of gastroschisis was partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of prenatal screening programs during the period of observation. On the basis of clinical manifestations, epidemiologic considerations, and the presence and type of additional malformations, both omphalocele and gastroschisis could be considered heterogeneous conditions.
From a population-based registry covering 2 decades (1970 to 1989) in Denmark, Bugge (2010) identified 7 pairs of twins with omphalocele in at least 1 twin. There were 2 monozygotic (MZ), 2 dizygotic (DZ), and 3 same-sex pairs of unknown zygosity. All pairs were discordant for omphalocele except for a pair of conjoined twins. The 8 infants with omphalocele represented 3.1% of the 253 infants from the registry with omphalocele. Three infants had isolated omphalocele, and 5 had omphalocele with associated congenital malformations. The occurrence of twins with omphalocele was not significantly different from the occurrence of twins in the Danish population in the same period, but the study was too small to allow other conclusions for the role of genetic factors in omphalocele.
Cytogenetics
Yatsenko et al. (2003) observed a patient with omphalocele, dysmorphic features, and mild developmental delay associated with a chromosomal aberration. The propositus carried a maternally derived unbalanced translocation resulting in trisomy for region 3q27.3-qter and monosomy for 4q32.3-qter. Because the association between dup3q and omphalocele had been reported in several instances, Yatsenko et al. (2003) analyzed the data on 93 previously reported patients with partial trisomy for the long arm of chromosome 3. The imbalance of chromosome 3 in their patient was further defined by FISH using bacterial artificial chromosome (BAC) clones. A specific BAC clone was identified as spanning the breakpoint in the patient and his mother. Based on comparative analysis, they defined the smallest region of overlap (SRO) associated with omphalocele to be between the breakpoint-identifying BAC clone and 3qter. Yatsenko et al. (2003) hypothesized that this SRO contains a gene or genes important in normal abdominal wall development and is worthy of further investigation.
Mapping
In a 5-generation family, previously reported by Kanagawa et al. (2002), in which 9 members over 3 generations had isolated omphalocele, Radhakrishna et al. (2012) performed a genomewide linkage scan and found significant evidence of linkage at marker rs937805 on chromosome 1p31.3 (p = 0.0001). Eleven SNP markers spanning a 2.74-Mb region showed nonparametric lod scores of 6.9. Haplotype analysis and recombination events defined the 2.74-Mb omphalocele candidate region, flanked by rs2886770 proximally and by rs1343981 distally.
Molecular Genetics
Using oligonucleotide microsphere hybridization in a 5-generation family in which 9 members over 3 generations had isolated omphalocele mapping to chromosome 1p31, Radhakrishna et al. (2012) identified an approximately 710-kb duplication at 1p31.3, with the proximal border at 63.5 Mb, proximal to the FOXD3 gene (611539), and the distal border within the ROR1 gene (602336). The duplication was present in all 8 available affected individuals but was absent in 2 unaffected family members. Multipoint linkage analysis using the duplication as a marker yielded a maximum lod score of 3.2 at 1p31.3 under a dominant model; the best-fitted parametric model was a dominant model with 99% penetrance and a disease-allele frequency of 0.0001. The duplicated region contained 7 genes: FOXD3, ALG6 (604566), ITGB3BP (605494), PGM1 (171900), DLEU2L, KIAA1799, and ROR1.
INHERITANCE \- Isolated cases ABDOMEN External Features \- Omphalocele \- Abdominal wall hernia GENITOURINARY External Genitalia (Male) \- Inguinal hernia External Genitalia (Female) \- Inguinal hernia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| OMPHALOCELE, AUTOSOMAL | c0795690 | 29,400 | omim | https://www.omim.org/entry/164750 | 2019-09-22T16:37:08 | {"doid": ["0060327"], "mesh": ["D006554"], "omim": ["164750"], "orphanet": ["660"], "synonyms": ["Alternative titles", "CHROMOSOME 1p31 DUPLICATION SYNDROME"]} |
A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.
## Clinical description
The clinical manifestations are severe (coma, convulsions, delirium, toxic hepatitis, acute dehydration and a state of shock) and may lead to death.
## Management and treatment
Treatment is symptomatic (administration of glucose, IV or per os).
## Prognosis
Although the intoxication is generally benign or has a favourable outcome, ingestion of large doses may lead to death: ackee fruit intoxication lead to 29 deaths in 1998 and more than 50 in 2001.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Acute ackee fruit intoxication | c0274888 | 29,401 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73423 | 2021-01-23T18:42:48 | {"gard": ["9299"], "mesh": ["C537562"], "umls": ["C0274888"], "icd-10": ["T62.2"], "synonyms": ["Acute intoxication by Blighia sapida", "Jamaican vomiting sickness", "Jamaican vomiting syndrome"]} |
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Intellectual disability-polydactyly-uncombable hair syndrome | c2931547 | 29,402 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3082 | 2021-01-23T18:23:13 | {"gard": ["3141"], "mesh": ["C537615"], "umls": ["C2931547"], "icd-10": ["Q87.2"], "synonyms": ["Kozlowski-Krajewska syndrome"]} |
Quadriga phenomena is a condition wherein the middle finger is flexed because of the connection between the flexor digitorum profundus (FDP) tendons.[1][2][3]
## References[edit]
1. ^ Giambini, Hugo; Ikeda, Jun; Amadio, Peter C.; An, Kai-Nan; Zhao, Chunfeng (November 2010). "The quadriga effect revisited: Designing a "safety incision" to prevent tendon repair rupture and gap formation in a canine model in vitro". Journal of Orthopaedic Research. 28 (11): 1482–1489. doi:10.1002/jor.21168. PMC 3591491. PMID 20872585.
2. ^ Schreuders, T. A. R. (2011-12-14). "The quadriga phenomenon: a review and clinical relevance". Journal of Hand Surgery (European Volume). 37 (6): 513–522. doi:10.1177/1753193411430810. PMID 22170246.
3. ^ Horton, T; Sauerland, S; Davis, T (April 2007). "The effect of flexor digitorum profundus quadriga on grip strength". The Journal of Hand Surgery: Journal of the British Society for Surgery of the Hand. 32 (2): 130–134. doi:10.1016/j.jhsb.2006.11.005. PMID 17234311.
* v
* t
* e
Diseases relating to the peripheral nervous system
Mononeuropathy
Arm
median nerve
* Carpal tunnel syndrome
* Ape hand deformity
ulnar nerve
* Ulnar nerve entrapment
* Froment's sign
* Ulnar tunnel syndrome
* Ulnar claw
radial nerve
* Radial neuropathy
* Wrist drop
* Cheiralgia paresthetica
long thoracic nerve
* Winged scapula
* Backpack palsy
Leg
lateral cutaneous nerve of thigh
* Meralgia paraesthetica
tibial nerve
* Tarsal tunnel syndrome
plantar nerve
* Morton's neuroma
superior gluteal nerve
* Trendelenburg's sign
sciatic nerve
* Piriformis syndrome
Cranial nerves
* See Template:Cranial nerve disease
Polyneuropathy and Polyradiculoneuropathy
HMSN
* Charcot–Marie–Tooth disease
* Dejerine–Sottas disease
* Refsum's disease
* Hereditary spastic paraplegia
* Hereditary neuropathy with liability to pressure palsy
* Familial amyloid neuropathy
Autoimmune and demyelinating disease
* Guillain–Barré syndrome
* Chronic inflammatory demyelinating polyneuropathy
Radiculopathy and plexopathy
* Brachial plexus injury
* Thoracic outlet syndrome
* Phantom limb
Other
* Alcoholic polyneuropathy
Other
General
* Complex regional pain syndrome
* Mononeuritis multiplex
* Peripheral neuropathy
* Neuralgia
* Nerve compression syndrome
This article about Orthopedic surgery is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Quadriga phenomenon | None | 29,403 | wikipedia | https://en.wikipedia.org/wiki/Quadriga_phenomenon | 2021-01-18T18:37:06 | {"wikidata": ["Q30315051"]} |
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.
Mapping
In a linkage study of 272 affected sib pairs (ASPs) with AD who were 60 years of age or older at onset, Blacker et al. (1997) found strong evidence of linkage on chromosomes 20 (lod score = 4.09) and 21 (lod score = 5.9). Because of the large marker spacing in the initial genome scan, the candidate region on chromosome 20 spanned 25 cM, corresponding to chromosomal bands 20p12.2-q11.21. Within this candidate region, 1 gene of particular interest was that encoding cystatin-3 (CST3; 604312), because it is known to be an amyloidogenic protein and is codeposited with the amyloid-beta precursor protein (APP; 104760) in amyloid plaques in the brain of AD patients.
Using a covariate-based linkage method, Olson et al. (2001) showed that the APP region on chromosome 21q21 is strongly linked to AD-affected sib pairs of the oldest current age (i.e., age either at last exam or at death) who lacked E4 alleles at the apolipoprotein E (APOE; 107741) locus. In further use of a covariate-based linkage method to reanalyze genome scan data, Olson et al. (2002) determined that a region on chromosome 20p showed the same pattern. A model that included current age and the number of E2 alleles at the APOE locus as covariates gave a lod score of 4.1. The signal on 20p was near the location of the gene encoding cystatin C. Two-locus analysis provided evidence of strong epistasis between 20p and the APP region, limited to the oldest age group and to those lacking E4 alleles at the APOE locus. Olson et al. (2002) speculated that high-risk polymorphisms in both regions produce a biologic interaction between these 2 proteins that increases susceptibility to a very late-onset form of AD. They suggested that this type of AD is biologically independent of APOE and that its association with E2 in their data set was the result of E4-related attrition at earlier ages.
By further linkage studies of sibships originally reported by Blacker et al. (1997), Goddard et al. (2004) narrowed the AD candidate region on chromosome 20 to an 11.8-cM region between markers D20S174 and D20S471, which includes the CST3 gene. In addition, they observed association for markers located near the CST3 gene, with P values between 0.002 and 0.08 for 2-locus haplotypes. The results supported the presence of a susceptibility locus for AD in the vicinity of CST3 for very elderly subjects with AD.
Although both Finckh et al. (2000) and Crawford et al. (2000) reported associations between polymorphisms in the CST3 gene and late-onset AD, Monastero et al. (2005) and Nacmias et al. (2006) found no such associations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ALZHEIMER DISEASE 8 | c0276496 | 29,404 | omim | https://www.omim.org/entry/607116 | 2019-09-22T16:09:41 | {"doid": ["0110041"], "mesh": ["D000544"], "omim": ["607116"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE, FAMILIAL, 8", "AD8"]} |
Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, legs, behind the knee, or in the abdomen, but it can be found in other parts of the body, in the retroperitoneum; and, less often, in the head and neck area. Their primary occurrence in the skin is rare. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. The World Health Organization classification of soft tissue tumors recognizes 5 types of liposarcomas: Well differentiated, which includes the adipocytic, sclerosing, and inflammatory subtypes; dedifferentiated; myxoid; round cell; and pleomorphic. Most patients with liposarcoma have no symptoms until the tumor is large and invades the neighboring organs or tissues, causing tenderness, pain, or functional problems. Although surgical removal of the tumor is the curative treatment, some patients may benefit from chemotherapy and radiation.
Most patients with liposarcoma have no symptoms until the tumor is large and impinges on neighboring structures, causing tenderness, pain, or functional disturbances. In the retroperitoneal area, where liposarcoma is detected at a late stage, the tumor may grow to a substantial size, weighing several pounds at the time of diagnosis. In general, liposarcoma grows silently, and the patient's estimation of the clinical duration is often unreliable. The patient eventually becomes aware of a swelling or a mass and reports this finding to the physician.
Patients may report the following:
* Associated episode of trauma to the region containing the mass
* Painful swelling (occurs in one third of cases for as long as 6 mo)
* Decreased function (ie, range of motion)
* Numbness
* Enlargement of varicose veins
* Fatigue
* Abdominal pain
* Weight loss
* Nausea
* Vomiting
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Liposarcoma | c0023827 | 29,405 | gard | https://rarediseases.info.nih.gov/diseases/6913/liposarcoma | 2021-01-18T17:59:21 | {"mesh": ["D008080"], "umls": ["C0023827"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-33 (CILD33) is caused by homozygous mutation in the GAS8 gene (605178) on chromosome 16q24.
Description
Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Olbrich et al. (2015) reported 3 unrelated patients with primary ciliary dyskinesia. All had recurrent infections of the upper and lower respiratory tracts since early childhood, resulting in bronchiectasis and chronic atelectasis. Additional symptoms included recurrent otitis media, sometimes resulting in conductive hearing impairment, and decreased nasal nitric oxide (NO) levels. None had laterality defects. One of the patients had 2 similarly affected sibs who were not available for study.
Inheritance
The transmission pattern of CILD33 in the families reported by Olbrich et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 unrelated patients with CILD33, Olbrich et al. (2015) identified 3 different homozygous truncating mutations in the GAS8 gene (605178.0001-605178.0003). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Patients respiratory cilia showed absence of the GAS8 protein, consistent with a loss of function.
Animal Model
Colantonio et al. (2009) showed that gas8-null zebrafish embryos showed hydrocephalus, left-right axis defects, and abnormal otolith composition of the inner ear, consistent with ciliary beating defects.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Otitis media, recurrent \- Conductive hearing loss (in some patients) RESPIRATORY \- Respiratory infections, recurrent, due to defective ciliary clearance Lung \- Bronchiectasis \- Atelectasis LABORATORY ABNORMALITIES \- Decreased nasal nitric oxide (NO) levels \- Respiratory epithelial cell cilia show subtle beating defects \- Cilia show increased frequency misaligned outer doublets MISCELLANEOUS \- Onset in early childhood \- Three unrelated probands have been reported (last curated January 2016) MOLECULAR BASIS \- Caused by mutation in the growth arrest-specific 8 gene (GAS8, 605178.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CILIARY DYSKINESIA, PRIMARY, 33 | c4225230 | 29,406 | omim | https://www.omim.org/entry/616726 | 2019-09-22T15:48:05 | {"doid": ["0110619"], "omim": ["616726", "244400"], "orphanet": ["244"], "synonyms": ["CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS", "Alternative titles", "PCD"]} |
A number sign (#) is used with this entry because of evidence that uridine-cytidineuria (URCTU) is caused by homozygous or compound heterozygous mutations in the SLC28A1 gene (606207) on chromosome 15q25.
Description
Uridine-cytidineuria (URCTU) is an inborn error of metabolism comprising increased excretion of the pyrimidine nucleosides. This condition has been identified incidentally and may be a benign metabolic phenotype (summary by Wevers et al., 2019).
Clinical Features
Wevers et al. (2019) reported a boy born of nonconsanguineous Danish parents of Jordanian descent who underwent a urine metabolic screen while hospitalized with afebrile tonic-clonic seizures; screening detected highly elevated excretion of uridine and cytidine. Analysis of purines and pyrimidines in family members revealed that a healthy older brother also excreted similarly increased amounts of uridine and cytidine. Urinary excretion of other purines and pyrimidines, including adenosine, was normal. Plasma concentrations of all purines and pyrimidines were normal. The seizures in the index patient were thought to be unrelated to the increased urinary uridine and cytidine (see MOLECULAR GENETICS).
Perez-Torras et al. (2019) reported a male child born of nonconsanguineous parents originating from the Dutch Antilles who had persistent strongly elevated urinary excretion of uridine and cytidine. Plasma levels of uridine were normal, and of cytidine only slightly elevated. The patient presented with myoclonia and fever, developed persistent lactate acidosis and severely disturbed liver enzymes, and died of multiorgan failure at 9 weeks of age. The patient was found to have familial hemophagocytic lymphohistiocytosis type 2 (FHL2; 603553) independent of the uridine-cytidineuria.
Molecular Genetics
In 2 brothers with highly elevated urinary excretion of uridine and cytidine, Wevers et al. (2019) detected a homozygous missense mutation in the SLC28A1 gene (S546P; 606207.0001), encoding concentrative nucleoside transporter-1 (CNT1). The mutation affected a conserved residue and had been shown to abolish CNT1 nucleoside transporter function (Cano-Soldado et al., 2012). The mutation segregated with the phenotype in the family. The index patient, who had experienced medication-responsive afebrile tonic-clonic seizures in infancy, was found also to carry a heterozygous mutation in the PRRT2 gene (c.649dup; 614386.0001) that accounted for the seizure phenotype.
In a male infant with uridine-cytidineuria, Perez-Torras et al. (2019) detected compound heterozygosity for 2 missense variants in the SLC28A1 gene, arg510 to cys (R510C; 606207.0002) and arg561 to gln (R561Q; 606207.0003). Functional studies showed that the variants affected the 3-dimensional structure, altered glycosylation, and decreased the half-life of the CNT1 protein. Coexpression of both variants dramatically impaired transport activity. The patient was also compound heterozygous for mutations in the PRF1 gene (e.g., 170280.0001), indicating familial hemophagocytic lymphohistiocytosis type 2 (FHL2; 603553).
Population Genetics
Wevers et al. (2019) noted that most laboratories involved in screening for inborn errors of metabolism do not evaluate uridine and cytidine when looking for defects in the purine and pyrimidine pathways. They considered it very possible that cases with high pyrimidine nucleoside excretion have been and are overlooked. They also noted that the overlapping specificity of the various CNT transporters may explain why a defect in CNT1 does not lead to clinical neurologic signs and symptoms.
INHERITANCE \- Autosomal recessive METABOLIC FEATURES \- Uridine-cytidineuria LABORATORY ABNORMALITIES \- Elevated uridine and cytidine in urine MISCELLANEOUS \- 'Nondisease' \- Incidental finding \- Based on a report of 3 individuals, 2 of whom had a second, complex phenotype (last curated June 2019) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 gene (SLC28A1, 606207.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| URIDINE-CYTIDINEURIA | None | 29,407 | omim | https://www.omim.org/entry/618477 | 2019-09-22T15:41:44 | {"omim": ["618477"]} |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital myasthenic syndrome | c0751882 | 29,408 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=590 | 2021-01-23T17:29:57 | {"gard": ["11902"], "mesh": ["D020294"], "omim": ["254190", "254210", "254300", "601462", "603034", "605809", "608930", "608931", "610542", "614198", "614750", "615120", "616040", "616224", "616227", "616228", "616304", "616313", "616314", "616321", "616322", "616323", "616324", "616325", "616326", "616330", "616720", "617143", "617239"], "umls": ["C0751882"], "icd-10": ["G70.2"], "synonyms": ["CMS"]} |
A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Idiopathic phalangeal acro-osteolysis | None | 29,409 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444316 | 2021-01-23T18:15:48 | {"icd-10": ["M89.5"], "synonyms": ["Idiopathic phalangeal acroosteolysis"]} |
Congenital smooth muscle hamartoma is typically a skin colored or lightly pigmented patch or plaque with hypertrichosis.[1]:627[2]
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1835–6. ISBN 978-1-4160-2999-1.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital smooth muscle hamartoma | c0406819 | 29,410 | wikipedia | https://en.wikipedia.org/wiki/Congenital_smooth_muscle_hamartoma | 2021-01-18T18:29:09 | {"umls": ["C0406819"], "orphanet": ["263435"], "wikidata": ["Q5160449"]} |
## Clinical Features
Alves et al. (1981) described a 20-year-old woman with an unusual ectodermal dysplasia/malformation syndrome comprised of generalized trichodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly intense on the soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of the limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The patient was the only affected member in a sibship of 4 whose parents were second cousins. Alves et al. (1981) suggested autosomal recessive inheritance.
Gorlin (1997) suggested that this is the same condition as that described by Cote et al. (1982), Ladda et al. (1989), and Stoll et al. (1992). Cote et al. (1982) described the single case of a 16-year-girl with arthrogryposis and ectodermal dysplasia. She had been born with no nails and 'only one hair on the head.' Diabetes mellitus was diagnosed at the age of 2 years and thereafter was well controlled with insulin. At the age of 16 years she was only 120 cm tall. Arthrogryposis was most evident in the hands, but all joints seemed affected. She walked like a very old lady and could not squat without support. Her hair was thin and sparse; body hair and eyelashes were scanty. Cote et al. (1982) thought that the arthrogryposis, ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were unlikely to have arisen independently. Ladda et al. (1989) described a newborn with distal contractures of hands and feet with decreased muscle mass in subcutaneous tissue. Other features included unilateral cleft lip and palate, brachycephaly, dry, scaly scalp with fine brittle hair with little pigmentation, few eyelashes, and no eyebrows. Stoll et al. (1992) described 2 daughters of a distantly consanguineous couple with oligodontia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kyphoscoliosis, mild facial dysmorphia, and microcephaly. The parents were Gypsies of the same ancestral origin. These parents, as well as the parents of earlier reported cases, were clinically normal.
Stratton et al. (1993) reported a 10-year-old girl, born of unrelated Hispanic parents, with trichodysplasia, onychodysplasia, hyperpigmented lesions on her shins, and hyperkeratosis of the soles, consistent with an ectodermal dysplasia. Sweating and intelligence were normal, and there was no family history of a similar disorder. Stratton et al. (1993) proposed that the phenotype was similar to that reported by Alves et al. (1981). However, the patient reported by Stratton et al. (1993) did not have cataracts or scoliosis, prompting Castori et al. (2010) to suggest that this patient had the less severe autosomal dominant form of palmoplantar keratosis with congenital alopecia (104100).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Brachycephaly \- Microcephaly Face \- Unusual facial appearance Eyes \- Bilateral nuclear cataract \- Narrow palpebral fissures \- Entropion \- Trichiasis Mouth \- Cleft lip/palate Teeth \- Oligodontia \- Enamel abnormalities SKELETAL Spine \- Kyphoscoliosis Limbs \- Minor malformations of limbs Hands \- Arthrogryposis \- Camptodactyly SKIN, NAILS, & HAIR Skin \- Ectodermal dysplasia \- Dry skin \- Scaling, hyperchromic spots on limbs \- Hyperkeratosis \- Dermatoglyphic abnormalities \- Hypohidrosis \- Excessive bruising and scarring after injuries and scratching Nails \- Onychodysplasia Hair \- Generalized trichodysplasia \- Absent eyebrows MUSCLE, SOFT TISSUES \- Amyotrophy ENDOCRINE FEATURES \- Diabetes mellitus ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA | c1866427 | 29,411 | omim | https://www.omim.org/entry/601701 | 2019-09-22T16:14:24 | {"mesh": ["C537441"], "omim": ["601701"], "orphanet": ["3200"], "synonyms": ["Alternative titles", "TRICHOOCULODERMOVERTEBRAL SYNDROME", "TODV SYNDROME", "ALVES SYNDROME"]} |
Mollaret's meningitis
Other namesBenign recurrent lymphocytic meningitis
Meninges of the central nervous system: dura mater, arachnoid, and pia mater.
SpecialtyNeurology
Mollaret's meningitis is a recurrent or chronic inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. Since Mollaret's meningitis is a recurrent, benign (non-cancerous), aseptic meningitis, it is also referred to as benign recurrent lymphocytic meningitis.[1][2] It was named for Pierre Mollaret, the French neurologist who first described it in 1944.[3][4][5]
Although chronic meningitis has been defined as "irritation and inflammation of the meninges persisting for more than 4 weeks being associated with pleocytosis in the cerebrospinal fluid",[2] cerebrospinal fluid abnormalities may not be detectable for the entire time.[6] Diagnosis can be elusive, as Helbok et al. note: "in reality, many more weeks, even months pass by until the diagnosis is established. In many cases the signs and symptoms of chronic meningitis not only persist for periods longer than 4 weeks, they even progress with continuing deterioration, i. e. headache, neck stiffness and even low grade fever. Impairment of consciousness, epileptic seizures, neurological signs and symptoms may evolve over time." [2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 4.1 Initial treatment
* 5 Recovery
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Mollaret's meningitis is characterized by chronic, recurrent episodes of headache, stiff neck, meningismus, and fever; cerebrospinal fluid (CSF) pleocytosis with large "endothelial" cells, neutrophil granulocytes, and lymphocytes; and attacks separated by symptom-free periods of weeks to years; and spontaneous remission of symptoms and signs. Many people have side effects between bouts that vary from chronic daily headaches to after-effects from meningitis such as hearing loss and visual impairment, nerve pain and twitches. Symptoms may be mild or severe.[2] Some cases may be short, lasting only 3–7 days, while others last for weeks to months.
While herpes simplex and varicella can cause rash, Mollaret's patients may or may not have a rash.[7] Herpes simplex virus is likely the most common cause of Mollaret's meningitis.[8]
## Cause[edit]
Although for a long time, the cause of Mollaret's meningitis was not known, recent work has associated this problem with herpes simplex viruses, particularly HSV-2.[6][9]
Cases of Mollaret's resulting from varicella zoster virus infection, diagnosed by polymerase chain reaction (PCR), have been documented. In these cases, PCR for herpes simplex was negative.[10][11] Some patients also report frequent shingles outbreaks.[citation needed] Varicella zoster virus, which causes chickenpox and shingles is part of the herpes family, and is sometimes called "herpes zoster virus".[12] CNS epidermoid cysts can give rise to Mollaret's meningitis especially with surgical manipulation of cyst contents.
A familial association, where more than one family member had Mollaret's, has been documented.[13]
## Diagnosis[edit]
Diagnosis starts by examining the patient's symptoms. Symptoms can vary. Symptoms can include headache, sensitivity to light, neck stiffness, nausea, and vomiting. In some patients, fever is absent. Neurological examination and MRI can be normal.[6]
Mollaret's meningitis is suspected based on symptoms, and can be confirmed by HSV 1 or HSV 2 on PCR of Cerebrospinal fluid (CSF), although not all cases test positive on PCR. PCR is performed on spinal fluid or blood, however, the viruses do not need to enter the spinal fluid or blood to spread within the body: they can spread by moving through the axons and dendrites of the nerves.[14]
During the first 24 h of the disease the spinal fluid will show predominant polymorphonuclear neutrophils and large cells that have been called endothelial (Mollaret's) cells.[15]
A study performed on patients who had diffuse symptoms, such as persistent or intermittent headaches, concluded that although PCR is a highly sensitive method for detection, it may not always be sensitive enough for identification of viral DNA in CSF, due to the fact that viral shedding from latent infection may be very low. The concentration of viruses in CSF during subclinical infection might be very low.[16]
Investigations include blood tests (electrolytes, liver and kidney function, inflammatory markers and a complete blood count) and usually X-ray examination of the chest. The most important test in identifying or ruling out meningitis is analysis of the cerebrospinal fluid (fluid that envelops the brain and the spinal cord) through lumbar puncture (LP). However, if the patient is at risk for a cerebral mass lesion or elevated intracranial pressure (recent head injury, a known immune system problem, localizing neurological signs, or evidence on examination of a raised ICP), a lumbar puncture may be contraindicated because of the possibility of fatal brain herniation. In such cases, a CT or MRI scan is generally performed prior to the lumbar puncture to exclude this possibility. Otherwise, the CT or MRI should be performed after the LP, with MRI preferred over CT due to its superiority in demonstrating areas of cerebral edema, ischemia, and meningeal inflammation.
During the lumbar puncture procedure, the opening pressure is measured. A pressure of over 180 mm H2O is suggestive of bacterial meningitis.
It is likely that Mollaret meningitis is underrecognized by physicians, and improved recognition may limit unwarranted antibiotic use and shorten or eliminate unnecessary hospital admission.[13]
This shows the results of polymerase chain reaction tests on a chronic Mollaret's meningitis patient, along with symptoms.
PCR testing has advanced the state of the art in research, but PCR can be negative in individuals with Mollaret's, even during episodes with severe symptoms. For example, Kojima et al. published a case study for an individual who was hospitalized repeatedly, and who had clinical symptoms including genital herpes lesions. However, the patient was sometimes negative for HSV-2 by PCR, even though his meningitis symptoms were severe. Treatment with acyclovir was successful, indicating that a herpes virus was the cause of his symptoms.[17]
## Treatment[edit]
### Initial treatment[edit]
Acyclovir is the treatment of choice for Mollaret's meningitis. Some patients see a drastic difference in how often they get sick and others don't. Often treatment means managing symptoms, such as pain management and strengthening the immune system.
The IHMF recommends that patients with benign recurrent lymphocytic meningitis receive intravenous acyclovir in the amount of 10 mg/kg every 8 hours, for 14–21 days. More recently, the second-generation antiherpetic drugs valacyclovir and famciclovir have been used to successfully treat patients with Mollaret's. Additionally, it has been reported that Indomethacin administered in the amount of 25 mg 3 times per day after meals, or 50 mg every 4 hours, has resulted in a faster recovery for patients, as well as more extended symptom-free intervals, between episodes.[18]
## Recovery[edit]
Recurring Mollaret meningitis attacks generally resolve within 3 to 5 years after the first occurrence, but some patients live with the disease for much longer.[19] With suppressive antiviral therapy, some patients who have Mollaret's report experiencing fewer attacks. However, there are some that have flare ups all throughout the year. [18]
## See also[edit]
* Encephalitis
* Meningitis
* Herpes simplex virus
* Varicella zoster virus
## References[edit]
1. ^ Shalabi, M; Whitley, RJ (Nov 1, 2006). "Recurrent benign lymphocytic meningitis". Clinical Infectious Diseases. 43 (9): 1194–7. doi:10.1086/508281. PMID 17029141.
2. ^ a b c d Raimund Helbok; Gregor Broessner; Bettina Pfausler; Erich Schmutzhard (2009). "Chronic meningitis". J Neurol. 256 (2): 168–175. doi:10.1007/s00415-009-0122-0.
3. ^ synd/1537 at Who Named It?
4. ^ Mollaret P (1944). "Méningite endothélio-leucocytaire multirécurrente bénigne. Syndrome nouveau ou maladie nouvelle? (Documents cliniques)". Revue neurologique, Paris. 76: 57–76.
5. ^ "La méningite endothélio-leukocytaire multi-récurrente bénigne". Rev Neurol (Paris). 76: 57–67. 1944.
6. ^ a b c Olaf Willmann; Parviz Ahmad-Nejad; Michael Neumaier; Michael G. Hennerici; Marc Fatar (2010). "Toll-Like Receptor 3 Immune Deficiency May Be Causative for HSV-2-Associated Mollaret Meningitis". Eur Neurol. 63 (4): 249–251. doi:10.1159/000287585.
7. ^ Ugo K. Ihekwaba; Goura Kudesia; Michael W. McKendrick (2008). "Clinical Features of Viral Meningitis in Adults: Significant Differences in Cerebrospinal Fluid Findings among Herpes Simplex Virus, Varicella Zoster Virus, and Enterovirus Infections". Clinical Infectious Diseases. 47 (6): 783–9. doi:10.1086/591129. PMID 18680414.
8. ^ Kasper, Dennis L.; Larry Jameson, J.; Hauser, Stephen L.; Loscalzo, Joseph; Fauci, Anthony S.; Longo, Dan L. (2015-04-08). Harrisons Principles of Internal Medicine (19th ed.). p. 1179. ISBN 9780071802154.
9. ^ Tarakad S Ramachandran, MBBS, FRCP(C), FACP (Feb 12, 2010). "Aseptic Meningitis". Emedicine. Retrieved 9 January 2011.
10. ^ Ohmichi, T.; Takezawa, H.; Fujii, C.; Tomii, Y.; Yoshida, T. & Nakagawa, M. (2012). "Mollaret cells detected in a patient with varicella-zoster virus meningitis". Clinical Neurology and Neurosurgery. 114 (7): 1086–7. doi:10.1016/j.clineuro.2012.02.015. PMID 22402203.
11. ^ Jhaveri, Ravi M.D.; Sankar, Raman M.D.; Yazdani, Shahram M.D.; Cherry, James D. M.D. (2003). "Varicella-zoster virus: an overlooked cause of aseptic meningitis". Pediatric Infectious Disease Journal. 22 (1): 96–97. doi:10.1097/00006454-200301000-00026. PMID 12553305.
12. ^ Mollaret's meningitis at patient.co.uk
13. ^ a b Jones CW, Snyder GE (2011). "Mollaret meningitis: case report with a familial association". Am J Emerg Med. 29 (7): 840.e1–840.e2. doi:10.1016/j.ajem.2010.02.008. PMID 20825883.
14. ^ Tal Kramer; Lynn W. Enquist (2013). "Directional Spread of Alphaherpesviruses in the Nervous System". Viruses. 5 (2): 678–707. doi:10.3390/v5020678. PMC 3640521.
15. ^ Mohammed Abu Khattab; Hussam Al Soub; Mona Al Maslamani; Jameela Al Khuwaiter; Yasser El Deeb (2009). "Herpes simplex virus type 2 (Mollaret's) meningitis: A case report". International Journal of Infectious Diseases. 13 (6): e476–e479. doi:10.1016/j.ijid.2009.01.003.
16. ^ Birgitta Sundén; Marie Larsson; Tina Falkeborn; Jakob Paues; Urban Forsum; Magnus Lindh; Liselotte Ydrenius; Britt Åkerlind; Lena Serrander (2011). "Real-time PCR detection of Human Herpesvirus 1–5 in patients lacking clinical signs of a viral CNS infection". BMC Infectious Diseases. 11: 220. doi:10.1186/1471-2334-11-220. PMC 3176207. PMID 21849074.
17. ^ Yuki Kojima; Hideyuki Hashiguchi; Tomoko Hashimoto; Sadatoshi Tsuji; Hiroshi Shoji; Yukumasa Kazuyama (2002). "Recurrent Herpes Simplex Virus Type 2 Meningitis: A Case Report of Mollaret's Meningitis" (PDF). Jpn. J. Infect. Dis. 55: 85–88. Archived from the original (PDF) on 2013-01-22. Retrieved 2014-09-21.
18. ^ a b Shalabi, Marwan; Whitley, Richard J. (2006-11-01). "Recurrent Benign Lymphocytic Meningitis". Clinical Infectious Diseases. 43 (9): 1194–1197. doi:10.1086/508281. ISSN 1058-4838. PMID 17029141.
19. ^ Mirakhur, Beloo; McKenna, Marc (2004-07-01). "Recurrent Herpes Simplex Type 2 Virus (Mollaret) Meningitis". The Journal of the American Board of Family Practice. 17 (4): 303–305. doi:10.3122/jabfm.17.4.303. ISSN 1557-2625. PMID 15243021.
## External links[edit]
Classification
D
* ICD-9-CM: 047.9
* MeSH: D008582
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* eMedicine: neuro/697
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mollaret's meningitis | c0220979 | 29,412 | wikipedia | https://en.wikipedia.org/wiki/Mollaret%27s_meningitis | 2021-01-18T19:02:07 | {"gard": ["10868"], "icd-9": ["054.72"], "wikidata": ["Q6896359"]} |
Proliferative verrucous leukoplakia (PVL) is a rare type of oral leukoplakia, where white patches that have a high risk of becoming cancerous develop inside the mouth. It mainly involves the lining inside of the cheeks (buccal mucosa) and tongue. It starts as a white plaque of thickened skin (hyperkeratosis) that eventually spreads and forms rough, wart-like (verrucous) lesions that may look like cauliflower. The lesions are slow-growing and progressive, and more and more difficult to control over time. The risk of becoming cancerous is high, especially, of transforming to squamous cell cancer or verrucous carcinoma. It also has a high chance of coming back after treatment (high recurrence risk). The cause is unknown. In some cases, an association with human papilloma virus (HPV) infection has been noted. PVL is more common in elderly women who have had lesions of leukoplakia for many years. People with PVL should avoid certain factors currently known to be related to the development of oral cancer such as tobacco and alcohol. Treatment is not well established but may include surgery, laser ablation treatments, photodynamic therapy, and medication such as Methisoprinol. Because of the long-term course and high chance of becoming cancerous, people with this disease need to have regular follow-up.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Proliferative verrucous leukoplakia | c3697776 | 29,413 | gard | https://rarediseases.info.nih.gov/diseases/12263/proliferative-verrucous-leukoplakia | 2021-01-18T17:58:07 | {"synonyms": []} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (November 2015) (Learn how and when to remove this template message)
Cholesteatoma
Cholesteatoma
SpecialtyOtorhinolaryngology
Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in the middle ear and/or mastoid process. Cholesteatomas are not cancerous as the name may suggest, but can cause significant problems because of their erosive and expansile properties. This can result in the destruction of the bones of the middle ear (ossicles), as well as growth through the base of the skull into the brain. They often become infected and can result in chronically draining ears. Treatment almost always consists of surgical removal.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Congenital cholesteatoma
* 2.2 Acquired cholesteatoma
* 3 Diagnosis
* 4 Treatment
* 4.1 Surgery
* 5 Prognosis
* 6 Infections
* 7 Epidemiology
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
The majority (98%) of people with cholesteatoma have ear discharge or conductive hearing loss, or both, in the affected ear.[citation needed]
Other more common conditions (e.g. otitis externa) may also present with these symptoms, but cholesteatoma is much more serious and should not be overlooked. If a patient presents to a doctor with ear discharge and hearing loss, the doctor should consider cholesteatoma until the disease is definitely excluded.
Other less common symptoms (all less than 15%) of cholesteatoma may include pain, balance disruption, tinnitus, earache, headaches and bleeding from the ear. There can also be facial nerve weakness. Balance symptoms in the presence of a cholesteatoma raise the possibility that the cholesteatoma is eroding the balance organs in the inner ear.
Doctors' initial inspections may only reveal an ear canal full of discharge. Until the doctor has cleaned the ear and inspected the entire tympanic membrane, cholesteatoma cannot be diagnosed.
Once the debris is cleared, cholesteatoma can give rise to a number of appearances. If there is significant inflammation, the tympanic membrane may be partially obscured by an aural polyp. If there is less inflammation, the cholesteatoma may present the appearance of 'semolina' discharging from a defect in the tympanic membrane. The posterior and superior parts of the tympanic membrane are most commonly affected. If the cholesteatoma has been dry, the cholesteatoma may present the appearance of 'wax over the attic'. The attic is just above the eardrum.
If untreated, a cholesteatoma can eat into the three small bones located in the middle ear (the malleus, incus and stapes, collectively called ossicles), which can result in nerve deterioration, deafness, imbalance and vertigo. It can also affect and erode, through the enzymes it produces, the thin bone structure that isolates the top of the ear from the brain, as well as lay the covering of the brain open to infection with serious complications (rarely even death due to brain abscess and sepsis).
Both the acquired as well as the congenital types of the disease can affect the facial nerve that extends from the brain to the face and passes through the inner and middle ear and leaves at the anterior tip of the mastoid bone, and then rises to the front of the ear and extends into the upper and lower face.
## Cause[edit]
Cholesteatomas occur in two basic classifications: Acquired cholesteatomas, which are more common, are usually caused by pathological alteration of the ear drum leading to accumulation of keratin within the middle ear. Congenital cholesteatomas are usually middle ear epidermal cysts that are identified deep within an intact ear drum.
### Congenital cholesteatoma[edit]
Keratin-filled cysts that grow medial to the tympanic membrane are considered to be congenital if they fulfill the following criteria (levenson's criteria):[1]
* mass medial to the tympanic membrane
* normal tympanic membrane
* no previous history of ear discharge, perforation or ear surgery
Congenital cholesteatomas occur at three important sites: the middle ear, the Petrous apex, and the cerebropontinio angle. They are most often found deep to the anterior aspect of the ear drum, and a vestigial structure, the epidermoid formation, from which congenital cholesteatoma may originate, has been identified in this area.[2]
Not all middle ear epidermal cysts are congenital, as they can be acquired either by metaplasia of the middle ear mucosa or by traumatic implantation of ear canal or tympanic membrane skin. In addition, cholesteatoma inadvertently left by a surgeon usually regrows as an epidermal cyst. Some authors have also suggested hereditary factors.[3][4]
### Acquired cholesteatoma[edit]
More commonly, keratin accumulates in a pouch of tympanic membrane which extends into the middle ear space. This abnormal folding or 'retraction' of the tympanic membrane arises in one of the following ways:
* Wittmaack's theory : Invagination of tympanic membrane from the attic or part of pars tensa in the form of retraction pockets lead to the formation of cholesteatoma.[5]
* Ruedi's theory : The basal cells of germinal layer of skin proliferate under the influence of infection and lay down keratinising squamous epithelium.[6]
* Habermann's theory: The epithelium from the meatus or outer drum surface grows into the middle ear through a pre-existing perforation and form cholesteatoma.[7]
Cholesteatoma may also arise as a result of metaplasia of the middle ear mucosa [8] or implantation following trauma.
## Diagnosis[edit]
Cholesteatoma is diagnosed by a medical doctor by physical examination of the ear. A CT scan may help to rule out other, often more serious causes for the patient's clinical presentation. Non-ionizing radiation imaging techniques (MRI) may be suitable to replace a CT scan, if determined necessary by your physician.[9][10][11]
## Treatment[edit]
Cholesteatoma is a persistent disease. Once the diagnosis of cholesteatoma is made in a patient who can tolerate a general anesthetic, the standard treatment is to surgically remove the growth.
The challenge of cholesteatoma surgery is to permanently remove the cholesteatoma whilst retaining or reconstructing the normal functions of the structures housed within the temporal bone.
The general objective of cholesteatoma surgery has two parts. It is both directed against the underlying pathology and directed towards maintaining the normal functions of the temporal bone. These aims are conflicting and this makes cholesteatoma surgery extremely challenging.
Sometimes, the situation results in a clash of surgical aims. The need to fully remove a progressive disease like cholesteatoma is the surgeon's first priority. Preservation of hearing is secondary to this primary aim. If the disease can be removed easily so that there is no increased risk of residual disease, then the ossicles may be preserved. If the disease is difficult to remove, so that there is an increased risk of residual disease, then removal of involved ossicles in order to fully clear cholesteatoma has generally been regarded as necessary and reasonable.
In other words, the aims of cholesteatoma treatment form a hierarchy. The paramount objective is the complete removal of cholesteatoma. The remaining objectives, such as hearing preservation, are subordinate to the need for complete removal of cholesteatoma. This hierarchy of aims has led to the development of a wide range of strategies for the treatment of cholesteatoma.
### Surgery[edit]
The variation in technique in cholesteatoma surgery results from each surgeon's judgment whether to retain or remove certain structures housed within the temporal bone in order to facilitate the removal of cholesteatoma. This typically involves some form of mastoidectomy which may or may not involve removing the posterior ear canal wall and the ossicles.
Removal of the canal wall facilitates the complete clearance of cholesteatoma from the temporal bone in three ways:
1. it removes a large surface onto which cholesteatoma may be adherent;
2. it removes a barrier behind which the cholesteatoma may be hidden;
3. it removes an impediment to the introduction of instruments used for the removal of cholesteatoma.
Thus removal of the canal wall provides one of the most effective strategies for achieving the primary aim of cholesteatoma surgery, the complete removal of cholesteatoma. However, there is a trade-off, since the functional impact of canal wall removal is also important.
The removal of the ear canal wall results in:
* a space, the "mastoid cavity", which is less likely than the original ear canal to resist infection;
* exposure of the ossicles, which may allow the subsequent formation of a new cholesteatoma deep to the ossicles. To prevent this, these ossicles must be removed, which may diminish the patient's hearing.
The formation of a mastoid cavity by removal of the canal wall is the simplest and most effective procedure for facilitating the removal of cholesteatoma, but may bestow the most lasting infirmity due to loss of ear function upon the patient treated in this way.
The following strategies are employed to mitigate the effects of canal wall removal:
1. careful design and construction of the mastoid cavity. This is essential for the health and integrity of the protective sheet of migrating, keratising epithelium which lines the distorted ear canal. This requires the surgeon to saucerise the cavity. A high facial ridge and an inappropriately small cartilaginous meatus are obstructions to epithelial migration and are particularly high risk factors for failure of the self-cleaning mechanism of the external ear.[12]
2. partial obliteration of the mastoid cavity. This can be performed using a wide range of materials. Many of these resorb in time, which means that the long-term results of such surgery are poorer than the short-term results.[13]
3. reconstruction of the ear canal wall. Canal wall reconstruction has been performed using ear canal skin alone, fascia, cartilage, titanium as well as by replacing the original intact wall. If the reconstruction is poorly performed, it may result in a high rate of recurrent cholesteatoma.[14]
4. preservation of the ear canal wall. If poorly performed, it may result in a high rate of both residual and recurrent cholesteatoma.[15]
5. reconstruction of the chain of hearing bones.[16]
Clearly, preservation and restoration of ear function at the same time as total removal of cholesteatoma requires a high level of surgical expertise.
## Prognosis[edit]
It is important that the patient attend periodic follow-up checks, because even after careful microscopic surgical removal, cholesteatomas may recur. Such recurrence may arise many years, or even decades, after treatment.
A residual cholesteatoma may develop if the initial surgery failed to completely remove the original; residual cholesteatomas typically become evident within the first few years after the initial surgery.
A recurrent cholesteatoma is a new cholesteatoma that develops when the underlying causes of the initial cholesteatoma are still present. Such causes can include, for example, poor eustachian tube function, which results in retraction of the ear drum, and failure of the normal outward migration of skin.[17]
In a retrospective study of 345 patients with middle ear cholesteatoma operated on by the same surgeon, the overall 5-year recurrence rate was 11.8%.[18] In a different study with a mean follow-up period of 7.3 years, the recurrence rate was 12.3%, with the recurrence rate being higher in children than in adults.[19]
## Infections[edit]
Recent findings indicate that the keratinizing squamous epithelium of the middle ear could be subjected to human papillomavirus infection.[20] Indeed, DNA belonging to oncogenic HPV16 has been detected in Cholesteatoma tissues, thereby underling that keratinizing squamous epithelia could potentially be a target tissue for HPV infection.[20]
## Epidemiology[edit]
In one study, the number of new cases of cholesteatoma in Iowa was estimated in 1975–6 to be just under one new case per 10,000 citizens per year.[21] Cholesteatoma affects all age groups, from infants through to the elderly. The peak incidence occurs in the second decade.[21]
## See also[edit]
* Chronic suppurative otitis media
* Otic polyp
## References[edit]
1. ^ Derlacki EL, Clemis JD; Clemis (1965). "Congenital cholesteatoma of the middle ear and mastoid". Annals of Otology, Rhinology, and Laryngology. 74 (3): 706–727. doi:10.1177/000348946507400313. PMID 5846535. S2CID 26714025.
2. ^ Michaels L (1988). "Origin of congenital cholesteatoma from a normally occurring epidermoid rest in the developing middle ear". Int. J. Pediatr. Otorhinolaryngol. 15 (1): 51–65. doi:10.1016/0165-5876(88)90050-X. PMID 3286554.
3. ^ Lipkin, AF; Coker, NJ; Jenkins, HA (October 1986). "Hereditary congenital cholesteatoma. A variant of branchio-oto dysplasia". Archives of Otolaryngology–Head & Neck Surgery. 112 (10): 1097–100. doi:10.1001/archotol.1986.03780100085014. PMID 3755982.
4. ^ Landegger, LD; Cohen, MS (November 2013). "Congenital cholesteatoma in siblings". The Journal of Laryngology & Otology. 127 (11): 1143–4. doi:10.1017/S0022215113002284. PMID 24169145.
5. ^ "Chronic suppurative otitis media". ENT. Archived from the original on 18 January 2013. Retrieved 12 January 2013.
6. ^ Rueedi L (1959). "Cholesteatoma formation in the middle ear in animal experiments". Acta Oto-Laryngologica. 50 (3–4): 233–242. doi:10.3109/00016485909129191. PMID 13660782.
7. ^ Haberman J (1888). "Zur Entstehung des Cholesteatoms des Mittelohrs". Archiv für Ohrenheilkunde. 27 (2–3): 43–51. doi:10.1007/BF02104525.
8. ^ Sade, J; Babiacki, A; Pinkus, G (1983). "The metaplastic and congenital origin of choesteatoma". Acta Otolaryngologica. 96 (1–2): 119–129. doi:10.3109/00016488309132882. PMID 6193677.
9. ^ "Cholesteatoma: Causes, Symptoms, and Diagnosis". Healthline. Retrieved 2018-09-21.
10. ^ "Cholesteatoma: Practice Essentials, Background, Etiology and Pathophysiology". 2018-09-17. Cite journal requires `|journal=` (help)
11. ^ "Cholesteatoma: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2018-09-21.
12. ^ Wormald P, J Nilssen EL; Nilssen (1998). "The facial ridge and the discharging mastoid cavity". Annals of Otology, Rhinology, and Laryngology. 108 (1): 92–96. doi:10.1097/00005537-199801000-00017. PMID 9432074. S2CID 21562748.
13. ^ Black B (1995). "Mastoidectomy elimination". Laryngoscope. 105 (12 pt 2 Suppl 76): 1–30. doi:10.1288/00005537-199512000-00023. PMID 7500804.
14. ^ Deveze, A; et al. (February 2010). "Rehabilitation of canal wall down mastoidectomy using a titanium ear canal implant". Otology & Neurotology. 31 (2): 220–224. doi:10.1097/MAO.0b013e3181c9960d. PMID 20009781. S2CID 23723605.
15. ^ Jansen C (1968). "The combined approach for tympanoplasty (report on 10 years' experience)". J. Laryngol. Otol. 82 (9): 779–793. doi:10.1017/S0022215100069462. PMID 4878658.
16. ^ Austin DF (1971). "Ossicular reconstruction". Archives of Otolaryngology. 94 (6): 525–535. doi:10.1001/archotol.1971.00770070825007. PMID 5129224.
17. ^ Fairley, James (7 November 2010). "Cholesteatoma and mastoid surgery". entkent.com. Retrieved 29 December 2012.
18. ^ Mishiro, Y.; Sakagami, M.; Kitahara, T.; Kondoh, K.; Okumura, S. (September 2008). "The investigation of the recurrence rate of cholesteatoma using Kaplan-Meier survival analysis". Otology & Neurotology. 29 (6): 803–6. doi:10.1097/MAO.0b013e318181337f. PMID 18636031. S2CID 25970515.
19. ^ Vartiainen, Eero (1995). "Factors associated with recurrence of cholesteatoma". The Journal of Laryngology & Otology. 109 (7): 590–592. doi:10.1017/S0022215100130804. PMID 7561462.
20. ^ a b Malagutti N, Rotondo JC, Cerritelli L, Melchiorri C, De Mattei M, Selvatici R, Oton-Gonzalez L, Stomeo F, Mazzoli M, Borin M, Mores B, Ciorba A, Tognon M, Pelucchi S, Martini F (2020). "High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases". Pathogens. 9 (3): 224. doi:10.3390/pathogens9030224. PMC 7157545. PMID 32197385.
21. ^ a b Harker LA (1977). Cholesteatoma: an incidence study in Cholesteatoma First International Conference. Birmingham, Alabama, USA: Aesculapius Publishing Company. pp. 308–309. ISBN 978-0-912684-11-6.
## External links[edit]
Classification
D
* ICD-10: H71
* ICD-9-CM: 385.32
* MeSH: D002781
* DiseasesDB: 2553
* SNOMED CT: 575006
External resources
* MedlinePlus: 001050
* eMedicine: ped/384 ent/220
* Patient UK: Cholesteatoma
Wikimedia Commons has media related to Cholesteatoma.
* Information on Cholesteatomas
* Laser Cholesteatoma Surgery
* v
* t
* e
Diseases of the outer and middle ear
Outer ear
* Otitis externa
* Otomycosis
Middle ear
and mastoid
* Otitis media
* Mastoiditis
* Bezold's abscess
* Gradenigo's syndrome
* Tympanosclerosis
* Cholesteatoma
* Perforated eardrum
Symptoms
* Ear pain
* Hearing loss
Tests
* Otoscope
* pneumatic
* tympanometry
Authority control
* GND: 4137368-6
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[Percent]: Percent of total in category
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*[GER]: Germany
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*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cholesteatoma | c0008373 | 29,414 | wikipedia | https://en.wikipedia.org/wiki/Cholesteatoma | 2021-01-18T19:08:50 | {"gard": ["10422"], "mesh": ["D002781"], "umls": ["C0008373"], "wikidata": ["Q558230"]} |
Activated PI3K delta syndrome
Other namesimmunodeficiency 14, p110δ-activating mutation causing senescent T cells, PASLI
Activated PI3K Delta Syndrome is autosomal dominant
SymptomsImmunodeficiency, Lymphadenopathy[1]
CausesMutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform[2][3]
Diagnostic methodGenetic testing[4]
TreatmentAntiviral therapy[5][6]
Activated PI3K delta syndrome is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene.[7][8][2] Which encodes the p110δ catalytic subunit of PI3Kδ, APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS and APDS-2 affected individuals present with similar symptoms, which include increased susceptibility to airway infections, bronchiectasis and lymphoproliferation.[medical citation needed]
## Contents
* 1 Symptoms and signs
* 2 Cause
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Symptoms and signs[edit]
The signs and symptoms of activated PI3K Delta Syndrome are consistent with the following:[1]
* Immunodeficiency
* Lymphadenopathy
* Sinopulmonary infections
* Bronchiectasis
## Cause[edit]
In terms of genetics, activated PI3K Delta Syndrome is autosomal dominant, a mutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform is the reason for this condition (located at chromosome 1p36.) [2][3]
## Mechanism[edit]
PI3kinase
The pathophysiology of activated PI3K delta syndrome has several aspects.[2] The normal function has P110δ (PI3K) involved in immune system regulation.[9]
P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous system.[10]
Activated PI3K delta syndrome effect indicates affected individuals are likely to have activation-induced cell death.[2] Normally, PI3K-delta signaling assists B cells and T cells to mature; however, overactive PI3K-delta has an effect on the B and T cell differentiation (the process by which cells eventually are different from one another[11]).
Consequently, there is an inability to confront an infection, as well as early cell death. Furthermore, overproduction of said signal can cause lymphadenopathy (which is an enlargement of lymph nodes[12]) due to excess white blood cells.[7]
## Diagnosis[edit]
In order to ascertain if an individual has activated PI3K delta syndrome, usually one finds atypical levels of immunoglobulins. Methods to determine the condition are the following:[4]
* Genetic testing
* Laboratory findings
* Symptoms exhibited
## Treatment[edit]
Amoxicillin(antibiotic)
Infections for this condition, are treated or prevented in the following general ways:[5][6]
* Bacterial infection should be treated rapidly (with antibiotics)
* Antiviral therapy
* Modify lifestyle (exposure to pathogens need to be minimized)
## See also[edit]
* Primary immunodeficiency
## References[edit]
1. ^ a b "PASLI disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-06-09.
2. ^ a b c d e "OMIM Entry - # 615513 - IMMUNODEFICIENCY 14; IMD14". www.omim.org. Retrieved 2017-06-10.
3. ^ a b Reference, Genetics Home. "PIK3CD gene". Genetics Home Reference. Retrieved 2017-06-10.
4. ^ a b "PI3 Kinase Disease | NIH: National Institute of Allergy and Infectious Diseases". www.niaid.nih.gov. Retrieved 2017-06-10.
5. ^ a b "Immunodeficiency (Primary and Secondary). Information". patient.info. Retrieved 2017-06-11.
6. ^ a b "Bronchiectasis Treatment & Management: Approach Considerations, Supportive Treatment, Antibiotic Therapy". 2017-02-17. Cite journal requires `|journal=` (help)
7. ^ a b Reference, Genetics Home. "activated PI3K-delta syndrome". Genetics Home Reference. Retrieved 2017-06-09.
8. ^ Collard, Harold R.; Richeldi, Luca (2017-02-18). Interstitial Lung Disease E-Book. Elsevier Health Sciences. p. 9. ISBN 9780323480253.
9. ^ "PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-11.
10. ^ Schoenberger, Stephen P.; Katsikis, Peter D.; Pulendran, Bali (2015-08-31). Crossroads Between Innate and Adaptive Immunity V. Springer. p. 121. ISBN 9783319157740.
11. ^ Prasad, Keder N. (2012-12-06). Regulation of Differentiation in Mammalian Nerve Cells. Springer Science & Business Media. p. 2. ISBN 9781468481129.
12. ^ Fleisher, Gary R.; Ludwig, Stephen (2010). Textbook of Pediatric Emergency Medicine. Lippincott Williams & Wilkins. p. 378. ISBN 9781605471594.
## Further reading[edit]
* Arjunaraja, Swadhinya; Snow, Andrew L. (2015). "Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling". Current Opinion in Allergy and Clinical Immunology. 15 (6): 533–538. doi:10.1097/ACI.0000000000000217. ISSN 1528-4050. PMC 4672729. PMID 26406182.
* Okkenhaug, Klaus; Ali, Khaled; Vanhaesebroeck, Bart (2007). "Antigen receptor signalling: a distinctive role for the p110δ isoform of PI3K". Trends in Immunology. 28 (2): 80–87. doi:10.1016/j.it.2006.12.007. ISSN 1471-4906. PMC 2358943. PMID 17208518.
## External links[edit]
Classification
D
* ICD-10: D81.8
* OMIM: 616005
External resources
* Orphanet: 397596
Scholia has a topic profile for Activated PI3K delta syndrome.
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
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*[COL]: Colombia
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*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Activated PI3K delta syndrome | c3714976 | 29,415 | wikipedia | https://en.wikipedia.org/wiki/Activated_PI3K_delta_syndrome | 2021-01-18T18:28:42 | {"gard": ["11983"], "mesh": ["C585640"], "orphanet": ["397596"], "wikidata": ["Q25098828"]} |
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
## Epidemiology
Thyroid dyshormonogenesis accounts for 10-15% of permanent congenital hypothyroidism (see this term).
## Clinical description
Clinical manifestations are those of other forms of congenital hypothyroidism (see this term). In addition to features of hypothyroidism, patients with dyshormonogenesis can present with goiter.
## Etiology
Dyshormonogenesis is caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. The most common defect is that of thyroid peroxidase activity, which leads to total iodide organification defects (TIOD) and can be caused by autosomal dominant mutations in the DUOX2 and DUOX2A genes (15q15.3, 15q15). Less severe defects cause partial iodide organification defects (PIOD) and can include defects in sodium/iodide transport, defective thyroglobulin action or a defect in the enzyme iodotyrosine deiodinase.
## Diagnostic methods
In countries with newborn screening programs (with either a primary thyroxine (T4)-follow-up thyroid-stimulating hormone (TSH) or primary TSH test), infants with congenital hypothyroidism are diagnosed after detection by screening tests. However, goiter is rarely seen in babies detected by newborn screening. Diagnosis should be confirmed by elevated serum TSH level and low T4 or free T4 level. TIOD diagnosis is based on high radioactive iodine (RAI) uptake of the thyroid gland followed by more than 90% release after sodium perchlorate administration. Genetic testing can also be used. PIOD is diagnosed with 50-90% release after perchlorate administration (and can be confirmed by genetic testing).
## Differential diagnosis
Differential diagnoses include other forms of congenital hypothyroidism (see this term).
## Antenatal diagnosis
Genetic counseling and antenatal diagnosis can be offered in families where a genetic defect has been identified.
## Management and treatment
Levothyroxine is the treatment of choice (starting dose 10-15mcg/kg/day), with the immediate goal to raise the serum T4 above 130 nmol/L (10 ug/dL) as rapidly as possible; with these doses, serum TSH usually normalizes in 2-4 weeks. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and T4 or free T4 should be measured every 1-2 months in the first 6 months of life, every 3 months between 6 months and 3 years of age, and 4 weeks after any dose change.
## Prognosis
The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls. Lower neurocognitive outcomes may occur in those infants started at a later age (>30 days of age), on lower l-thyroxine doses than currently recommended, and in those infants with more severe hypothyroidism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial thyroid dyshormonogenesis | c1848805 | 29,416 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95716 | 2021-01-23T18:39:25 | {"mesh": ["C564766"], "omim": ["274400", "274500", "274700", "274800", "274900", "607200"], "icd-10": ["E03.0", "E03.1"], "synonyms": ["Thyroid dyshormonogenesis"]} |
EAST syndrome
Other namesSeSAME syndrome[1]
Pronunciation
* /iːst/
EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems).[2] The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present.
EAST syndrome is also called SeSAME syndrome,[1] as a syndrome of seizures, sensorineural deafness, ataxia, intellectual disability (mental retardation), and electrolyte imbalances. It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers.[3] The KCNJ10 gene encodes the K+ channel Kir4.1 (allowing K+ to flow into a cell rather than out) and is present in the brain, ear, and kidney.
## Contents
* 1 Symptoms and signs
* 1.1 Mutations
* 1.2 Epilepsy
* 1.3 Ataxia
* 1.4 Sensorineural deafness
* 1.5 Tubulopathy
* 2 Diagnosis
* 3 Management
* 4 See also
* 5 References
* 6 External links
## Symptoms and signs[edit]
### Mutations[edit]
Representation of autosomal recessive disease
Many mutations that are found within EAST syndrome lead to a change in pH sensitivity and a modification in the IC50 value to the alkaline range, which is a higher pH reading. A specific KCNJ10 mutation, R65P, is affected by this shift. Its activity is greatly decreased when exposed to the intracellular pH. This causes more H+ sensitivity within humans, which means that the pH level is then shifted into the basic range. There are still many other mutations such as R175Q, T164I, and R297C that also cause changes in the pH sensitivity. These mutations also have decreased sensitivity when they are exposed to physiological intracellular pH.[4]
### Epilepsy[edit]
Epilepsy is caused by the mutation KCNJ10 within EAST syndrome. Glial cells express KCNJ10, which establishes the neuronal cells resting membrane potential. Therefore, through repolarization, a neuron constantly takes up sodium, which causes the membrane potential to decrease because potassium is no longer being taken up intracellularly. Seizures occur because the KCNJ10 mutation increases the sodium uptake and decreases the potassium uptake, which means the protective barrier of potassium is no longer there. [5]
Some signs of epilepsy can be temporary confusion, a staring spell, or uncontrollable movements of the arms and legs. A person may also experience a loss of consciousness or psychic symptoms. Someone with epilepsy typically has the same type of seizure each time one occurs and so the symptoms are also similar each time.[6]
The treatments of epilepsy vary depending on the case. Some treatments include medications, surgery, therapies, or a ketogenic diet. Researchers are also looking to develop a new treatment, a pacemaker for epilepsy. This device would sense a seizure before it would occur and then send a drug or electric charge to prevent the seizure. Another potential treatment for epilepsy is stereotactic radiosurgery. For this treatment doctors would direct radiation to a specific area of the brain that is causing the seizures to occur.[7]
### Ataxia[edit]
Ataxia can develop very abruptly or it can develop over time. Some signs and symptoms of ataxia are loss of balance, loss of muscle coordination in an arm, hand, or leg, difficulty walking, slur of speech, or difficulty swallowing.[8] Ataxia is a non-specific condition characterized by a lack of voluntary movements to some degree. Rather than involving damage to the cerebellum, ataxia in EAST syndrome is due to the KCNJ10 mutation. In the brain, KCNJ10 is expressed in glial cells surrounding synapses and blood vessels as a K+ ion buffer. K+ is necessary to maintain a neuronal cell's membrane potential, and these glial cells are responsible for transferring K+ ions from sites of excess K+ to sites with deficient K+. KCNJ10 is a major potassium channel in these glial cells, and when this gene is mutated, these glial cells cannot properly clear K+ from the extracellular space and deliver K+ ions to places that need it. Excess K+ in these areas of synapse disturbs physiological excitability, resulting in symptoms of ataxia.[9]
The treatment of ataxia depends on the cause, and there is not current research for EAST syndrome specific treatment; however, there are some general ways to improve disability from ataxia. The movement disorders associated with ataxia can be managed by pharmacological treatments and through physical therapy and occupational therapy to reduce disability.[10] Physical therapy treatment is highly dependent on each individual and varies. A recent review states that physical therapy is effective, however, there is only moderate evidence to support this.[11]
### Sensorineural deafness[edit]
When a person shows signs of sensorineural deafness there is usually muffling of speech, difficulty understanding words, especially against background noise or in a crowd of people. A person might also frequently ask others to speak more slowly, clearly and loudly. They might also withdraw from conversations or avoid some social settings because everything sounds muffled, even when there are loud noises.[12] Sensorineural Deafness indicates that the patient has difficulty hearing not due to environmental factors, but through genetic mutation in the KCNJ10 gene. This gene affects the potassium channel count and their productivity in several parts of the body.[citation needed]
Cochlea crossection
Since the main mutation for EAST syndrome is in the KCNJ10 gene, it affects the potassium channels found in the inner ear cells. This includes the stria vascularis region of the inner ear, which is the upper portion of the fluid filled spiral ligament of the cochlea. The cochlea is the main region that translates sound waves into neurological signals to be interpreted by the brain. Without properly functioning potassium channel, the potassium conductance is reduced, which is critical for maintaining the endocochlear functioning properly. This implies that more potassium ions leave rather than going into the cell. This causes a lack of sound wave translation into neurological signals, which the brain is unable to understand or interpret. Potassium is also necessary on hair cells, which are mainly under concentration in the endolymph, which is an inner ear fluid membrane. Without the use of potassium channels or entry of potassium in appropriate regions, there is a lack of signal transduction that help with processing sounds.[13]
Even though sensorineural deafness is irreversible, one treatment are cochlear implants, which includes a microphone and electronic devices that sit externally to the head. When sound is emitted to the microphone, it converts the sound waves into electrical impulses. In contrast to hearing aids, which amplify sound, cochlear implants are designed to stimulate the auditory nerve.[14]
### Tubulopathy[edit]
Tubulopathy is represented by the T in the acronym EAST syndrome. This is a renal salt wasting tubulopathy involved in the kidneys. The mutation involved in EAST syndrome causes subnormal absorption of certain ions such as Na+, Ca2+, and Mg2+. The KCNJ10 gene is associated with a K+ channel in the distal convoluted tubule and the connecting tubule, two specific regions of the kidneys. These regions play a role in the excretion and absorption of salts. The KCNJ10 is an inwardly rectifying potassium channel which means it is important in the recycling of K+ believed to further be useful in building a gradient for Na+/K+ - ATPase's. In addition to diminishing Na+/K+ - ATPase's inadequate KCNJ10 functioning leads to depolarization of the basolateral membrane which reduces electrogenic transporters' driving force. The lack of Na+ typically leads to the low blood pressure typical of EAST syndrome patients. The salt wasting tubulopathy of EAST syndrome most closely resembles that of Gitelman syndrome which is the most common syndrome affecting the distal convoluted tubule.[5]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (July 2017)
## Management[edit]
EAST syndrome is an autosomal recessive disorder; therefore, it cannot necessarily be prevented. Presence of the four symptoms (epilepsy, ataxia, sensorineural deafness, and salt-wasting renal tubulopathy) and detection of a mutation in the KCNJ10 gene would indicate the presence of this disorder.
There is not yet one method to help EAST syndrome as a whole, but hopefully with continued research, there could be one day.
## See also[edit]
* Gitelman syndrome
* Bartter syndrome
* Liddle's syndrome
## References[edit]
1. ^ a b Orphanet, EAST syndrome (ORPHA199343), retrieved 2016-06-23.
2. ^ OMIM, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SeSAMES (OMIM #612780), retrieved 2016-06-23.
3. ^ Bockenhauer D, Feather S, Stanescu HC, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". N. Engl. J. Med. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365.
4. ^ Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R (2010). "KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function". Proc. Natl. Acad. Sci. U.S.A. 107 (32): 14490–5. Bibcode:2010PNAS..10714490R. doi:10.1073/pnas.1003072107. PMC 2922599. PMID 20651251.
5. ^ a b Bandulik, Sascha (2011). "The salt- wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel". Pflügers Archiv : European Journal of Physiology. 461 (4): 423–435. doi:10.1007/s00424-010-0915-0. PMID 21221631. S2CID 13484948.
6. ^ Mayo Clinic Staff. "Epilepsy- Symptoms and Causes". Mayo Clinic. Retrieved 25 April 2016.
7. ^ Mayo Clinic Staff. "Epilepsy". Mayo Clinic. Retrieved 25 April 2016.
8. ^ "Diagnosis of Ataxia". National Ataxia Foundation. Retrieved 25 April 2016.
9. ^ Bandulik, Sascha (April 2011). "The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel". Pflügers Archiv: European Journal of Physiology. 461 (4): 423–435. doi:10.1007/s00424-010-0915-0. PMID 21221631. S2CID 13484948.
10. ^ Perlman SL (November 2006). "Ataxias". Clin. Geriatr. Med. 22 (4): 859–77, vii. doi:10.1016/j.cger.2006.06.011. PMID 17000340.
11. ^ Martin CL, Tan D, Bragge P, Bialocerkowski A (January 2009). "Effectiveness of physiotherapy for adults with cerebellar dysfunction: a systematic review". Clinical Rehabilitation. 23 (1): 15–26. doi:10.1177/0269215508097853. PMID 19114434. S2CID 25458915.
12. ^ "Hearing Loss Signs and Symptoms". UCSF Medical Center. Retrieved 25 April 2016.
13. ^ Moody, Antonio; Stransnick, Barry; A. M.D, Stephanie. "Genetic Sensorineural Hearing Loss". Medscape. FACS. Retrieved 3 February 2016.
14. ^ "Cochlear Implants". National Institute of Deafness and Other Communication Disorders. U.S. Department of Health and Human Services. Retrieved August 18, 2014.
## External links[edit]
Classification
D
* OMIM: 612780
* MeSH: C557674 C557674, C557674
External resources
* Orphanet: 199343
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| EAST syndrome | c2748572 | 29,417 | wikipedia | https://en.wikipedia.org/wiki/EAST_syndrome | 2021-01-18T18:51:24 | {"gard": ["10514"], "mesh": ["C557674"], "umls": ["C2748572"], "orphanet": ["199343"], "wikidata": ["Q5322531"]} |
Sommerfelt et al. (1991) described a seemingly new disorder in 4 sibs, the offspring of first-cousin parents: hereditary spastic paraplegia with epileptic myoclonus. The age of onset varied from the prenatal period to 10 years of age. The main finding when the sibs were examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss, and a progressive course. Differences in phenotypic expression were striking. One sister had progressive epileptic myoclonus, ataxia, and only slight distal wasting; if seen alone, the diagnosis of Unverricht-Lundborg disease (progressive myoclonic epilepsy; 254800) might be entertained. The patients were described as having massive, build-up myoclonic 'cascade' seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY | c1849114 | 29,418 | omim | https://www.omim.org/entry/270805 | 2019-09-22T16:22:13 | {"mesh": ["C564810"], "omim": ["270805"]} |
Blistering distal dactylitis
SpecialtyDermatology
Blistering distal dactylitis is a cutaneous condition characterized by tense superficial bullae occurring on a tender erythematous base over the volar fat pad of the phalanx of a finger or thumb.[1]:262 The most common organism responsible for this is Beta-hemolytic Streptococci.
## See also[edit]
* 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 0-7216-2921-0.
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Blistering distal dactylitis | c0406136 | 29,419 | wikipedia | https://en.wikipedia.org/wiki/Blistering_distal_dactylitis | 2021-01-18T19:10:08 | {"umls": ["C0406136"], "wikidata": ["Q4926912"]} |
## Clinical Features
Schinzel (1980) reported a female patient with alopecia and severe growth and mental retardation. He noted previous reports of 2 similar cases, one of which was in an offspring of first-cousin parents. These 2 patients died in the first year of life.
van Gelderen (1982) described a 16-year-old boy, born to first-cousin parents, who had thoracic kyphoscoliosis, bilateral dislocation of the hips, and contracture of multiple joints present from birth. The elbows, fingers, and knees lacked full extension. All fifth digits were short with particularly shortened second phalanges. Slight cutaneous syndactyly of all digits was present also. The intercanthal distance was increased and marked myopia was present. The nose was prominent, the skull turridolichocephalic, and the ears rather large and soft. At 15.7 years of age he was 122.5 cm tall. The teeth were described as showing severe enamel dysplasia and caries. The IQ was about 40.
Dumic et al. (2000) described 2 brothers with what appeared to be the same disorder. In addition to mental deficiency, they showed short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother had celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother had hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. The brothers showed multiple joint contractures and fusions of various bones, particularly elbows, carpals, metacarpals, and spine.
Inheritance
Consanguineous families and affected sibs support autosomal recessive inheritance of this disorder (van Gelderen, 1982; Dumic et al., 2000).
Hair \- Alopecia Eyes \- Telecanthus \- Marked myopia Growth \- Severe growth retardation Neuro \- Severe mental retardation (IQ 40) Nose \- Prominent nose Skull \- Turridolichocephaly Teeth \- Severe enamel dysplasia \- Severe caries Skeletal \- Thoracic kyphoscoliosis \- Bilateral dislocated hips \- Joint contractures (elbows, fingers, knees) \- Fifth digits short, esp. second phalanges \- Slight cutaneous syndactyly, all digits Inheritance \- Autosomal recessive Ears \- Large soft ears ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME | c0795895 | 29,420 | omim | https://www.omim.org/entry/203550 | 2019-09-22T16:31:19 | {"mesh": ["C537051"], "omim": ["203550"], "orphanet": ["1005"], "synonyms": ["Alternative titles", "ACD MENTAL RETARDATION SYNDROME"]} |
Compartment syndrome
A picture of the forearm following emergency surgery for acute compartment syndrome
SpecialtyOrthopedics
SymptomsPain, numbness, pallor, decreased ability to move the affected limb[1]
ComplicationsAcute: Volkmann's contracture[2]
TypesAcute, chronic[1]
CausesAcute: Trauma (fracture, crush injury), following a period of poor blood flow[3][4]
Chronic: Repetitive exercise[1]
Diagnostic methodBased on symptoms, compartment pressure[5][1]
Differential diagnosisCellulitis, tendonitis, deep vein thrombosis, venous insufficiency[3]
TreatmentAcute: Timely surgery[5]
Chronic: Physical therapy, surgery[1]
Compartment syndrome is a condition in which increased pressure within one of the body's anatomical compartments results in insufficient blood supply to tissue within that space.[6][7] There are two main types: acute and chronic.[6] Compartments of the leg or arm are most commonly involved.[3]
Symptoms of acute compartment syndrome (ACS) can include severe pain, poor pulses, decreased ability to move, numbness, or a pale color of the affected limb.[5] It is most commonly due to physical trauma such as a bone fracture (up to 75% of cases) or crush injury.[3][8] It can also occur after blood flow returns following a period of poor blood flow.[4] Diagnosis is generally based upon a person's symptoms[5] and may be supported by measurement of intracomparmental pressure.[9] Treatment is by surgery to open the compartment, completed in a timely manner.[5] If not treated within six hours, permanent muscle or nerve damage can result.[5][10]
In chronic compartment syndrome, there is generally pain with exercise.[1] Other symptoms may include numbness.[1] Symptoms typically resolve with rest.[1] Common activities that trigger chronic compartment syndrome include running and biking.[1] Generally, this condition does not result in permanent damage.[1] Other conditions that may present similarly include stress fractures and tendinitis.[1] Treatment may include physical therapy or—if that is not effective—surgery.[1]
Acute compartment syndrome occurs in about 3% of those who have a midshaft fracture of the forearm.[11] Rates in other areas of the body and for chronic cases are unknown.[11][12] The condition occurs more often in males and people under the age of 35, in line with the occurrence of trauma.[3][13] Compartment syndrome was first described in 1881 by German surgeon Richard von Volkmann.[5] Untreated, acute compartment syndrome can result in Volkmann's contracture.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Acute
* 1.2 Chronic
* 1.3 Complications
* 2 Causes
* 2.1 Acute
* 2.2 Chronic
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 5.1 Acute
* 5.2 Chronic
* 6 Prognosis
* 7 Epidemiology
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Compartment syndrome usually presents within a few hours of an inciting event, but may present anytime up to 48 hours after.[8] The limb affected by compartment syndrome is often associated with a firm, wooden feeling on deep palpation, and is usually described as feeling tight.[5][8] Usually, the pain cannot be relieved by NSAIDS.[14] Range of motion may be limited while the compartment pressure is high. In acute compartment syndrome, the pain will not be relieved with rest. In chronic exertional compartment syndrome the pain will dissipate with rest.[15]
### Acute[edit]
Acute compartment syndrome with blister formation in the arm of a child
There are five characteristic signs and symptoms related to acute compartment syndrome: pain, paraesthesia (reduced sensation), paralysis, pallor, and pulselessness.[5] Pain and paresthesia are the early symptoms of compartment syndrome.[16][8]
Common
* Pain – A person may experience pain disproportionate to the findings of the physical examination.[8] This pain may not be relieved by strong analgesic medications. The pain is aggravated by passively stretching the muscle group within the compartment. However, such pain may disappear in the late stages of the compartment syndrome.[16] The role of local anesthesia in delaying the diagnosis of compartment syndrome is still being debated.[16]
* Paresthesia (altered sensation) – A person may complain of "pins & needles", numbness, and a tingling sensation. This may progress to loss of sensation (anesthesia) if no intervention is made.[16]
Uncommon
* Paralysis – Paralysis of the limb is a rare, late finding. It may indicate both a nerve or muscular lesion.[16]
* Pallor and pulselessness – A lack of pulse rarely occurs in patients, as pressures that cause compartment syndrome are often well below arterial pressures. Absent pulses only occur when there is arterial injury or during the late stages of the compartment syndrome, when compartment pressures are very high.[5] Pallor can also result from arterial occlusion.
### Chronic[edit]
The symptoms of chronic exertional compartment syndrome, CECS, may involve pain, tightness, cramps, weakness, and diminished sensation.[17] This pain can occur for months, and in some cases over a period of years, and may be relieved by rest.[18] Moderate weakness in the affected region can also be observed. These symptoms are brought on by exercise and consist of a sensation of extreme tightness in the affected muscles followed by a painful burning sensation if exercise is continued. After exercise is ceased, the pressure in the compartment will decrease within a few minutes, relieving painful symptoms.[18][15] Symptoms will occur at a certain threshold of exercise which varies from person to person but is rather consistent for a given individual. This threshold can range anywhere from 30 seconds of running to 2-3 miles of running. CECS most commonly occurs in the lower leg, with the anterior compartment being the most frequently affected compartment.[18] Foot drop is a common symptom of CECS.[19]
### Complications[edit]
Failure to relieve the pressure can result in the death of tissues (necrosis) in the affected anatomical compartment, since the ability of blood to enter the smallest vessels in the compartment (capillary perfusion pressure) will fall. This, in turn, leads to progressively increasing oxygen deprivation of the tissues dependent on this blood supply. Without sufficient oxygen, the tissue will die.[20] On a large scale, this can cause Volkmann's contracture in affected limbs, a permanent and irreversible process.[21] Other reported complications include neurological deficits of the affected limb, gangrene, and chronic regional pain syndrome.[22] Rhabdomyolysis and subsequent kidney failure are also possible complications. In some case series, rhabdomyolysis is reported in 23% of patients with ACS.[16]
## Causes[edit]
### Acute[edit]
Acute compartment syndrome (ACS) is a medical emergency that can develop after traumatic injuries, such as in automobile accidents or dynamic sporting activities – for example, a severe crush injury or an open or closed fracture of an extremity. Rarely, ACS can develop after a relatively minor injury, or due to another medical issue.[23] The lower legs and the forearms are the most frequent sites affected by compartment syndrome. Other areas of the body such as thigh, buttock, hand, abdomen, and foot can also be affected.[16][13] The most common cause of acute compartment syndrome is fracture of a bone, most commonly the tibia.[24] There is no difference between acute compartment syndrome originating from an open or closed fracture.[14] Leg compartment syndrome is found in 2% to 9% of tibial fractures. It is strongly related to fractures involving the tibial diaphysis as well as other sections of the tibia.[25] Direct injury to blood vessels can lead to compartment syndrome by reducing the downstream blood supply to soft tissues. This reduction in blood supply can cause a series of inflammatory reactions that promote the swelling of the soft tissues. Such inflammation can be further worsened by reperfusion therapy.[16] Because the fascia layer that defines the compartment of the limbs does not stretch, a small amount of bleeding into the compartment, or swelling of the muscles within the compartment, can cause the pressure to rise greatly. Intravenous drug injection, casts, prolonged limb compression, crush injuries, anabolic steroid use, vigorous exercise, and eschar from burns can also cause compartment syndrome.[26][27] Patients on anticoagulant therapy have an increased risk of bleeding into a closed compartment.[16]
Abdominal compartment syndrome occurs when the intra-abdominal pressure exceeds 20 mmHg and abdominal perfusion pressure is less than 60 mmHg. This disease process is associated with organ dysfunction and multiple organ failures. There are many causes, which can be broadly grouped into three mechanisms: primary (internal bleeding and swelling); secondary (vigorous fluid replacement as an unintended complication of resuscitative medical treatment, leading to the acute formation of ascites and a rise in intra-abdominal pressure); and recurrent (compartment syndrome that has returned after the initial treatment of secondary compartment syndrome).[28]
There have been cases of compartment syndrome associated with hypothyroidism.[29]
### Chronic[edit]
When compartment syndrome is caused by repetitive use of the muscles, it is known as chronic compartment syndrome (CCS).[30][31] This is usually not an emergency, but the loss of circulation can cause temporary or permanent damage to nearby nerves and muscles.
A subset of chronic compartment syndrome is chronic exertional compartment syndrome (CECS), often called exercise-induced compartment syndrome (EICS).[32] Oftentimes, CECS is a diagnosis of exclusion.[33] CECS of the leg is a condition caused by exercise which results in increased tissue pressure within an anatomical compartment due to an acute increase in muscle volume – as much as 20% is possible during exercise.[34] When this happens, pressure builds up in the tissues and muscles causing tissue ischemia.[34] An increase in muscle weight will reduce the compartment volume of the surrounding fascial borders and result in an increased compartment pressure.[32] An increase in the pressure of the tissue can force fluid to leak into the interstitial space (extracellular fluid), leading to a disruption of the micro-circulation of the leg.[32] This condition occurs commonly in the lower leg and various other locations within the body, such as the foot or forearm. CECS can be seen in athletes who train rigorously in activities that involve constant repetitive actions or motions.[32]
## Pathophysiology[edit]
In a normal human body, blood flow from the arterial system (higher pressure) to venous system (lower pressure) requires a pressure gradient. When this pressure gradient is diminished, blood flow from the artery to the vein is reduced. This causes a backup of blood and excessive fluid to leak from the capillary wall into spaces between the soft tissues cells, causing swelling of the extracellular space and a rise in intracompartmental pressure. This swelling of the soft tissues surrounding the blood vessels compresses the blood and lymphatic vessels further, causing more fluid to enter the extracellular spaces, leading to additional compression. The pressure continues to increase due to the non-compliant nature of the fascia containing the compartment.[8] This worsening cycle can eventually lead to a lack of sufficient oxygen in the soft tissues (tissue ischemia) and tissue death (necrosis). Tingling and abnormal sensation (paraesthesia) can begin as early as 30 minutes from the start of tissue ischemia and permanent damage can occur as early as 12 hours from the onset of the inciting injury.[16]
## Diagnosis[edit]
Compartment syndrome is a clinical diagnosis, meaning that a medical provider's examination and the patient's history usually give the diagnosis.[13] Apart from the typical signs and symptoms, measurement of intracompartmental pressure can also be important for diagnosis.[35][13] Using a combination of clinical diagnosis and serial intracompartmental pressure measurements increases both the sensitivity and specificity of diagnosing compartment syndrome.[9] A transducer connected to a catheter is inserted 5 cm into the zone of injury.[5] A compartment pressure greater than 30 mmHg less than the diastolic pressure in a conscious or unconscious person is associated with compartment syndrome. Fasciotomy is indicated in that case. For those patients with low blood pressure (hypotension), a pressure of 20 mmHg higher than the intracompartmental pressure is associated with compartmental syndrome.[16] Noninvasive methods of diagnosis such as near-infraredspectroscopy (NIRS) which uses sensors on the skin, shows promise in controlled settings. However, with limited data in uncontrolled settings, clinical presentation and intracompartmental pressure remain the gold standard for diagnosis.[36]
Chronic exertional compartment syndrome is usually a diagnosis of exclusion, with the hallmark finding being absence of symptoms at rest. Measurement of intracompartmental pressures during symptom reproduction (usually immediately following running) is the most useful test. Imaging studies (X-ray, CT, MRI) can be useful in ruling out the more common diagnoses.[37] Additionally, MRI has been shown to be effective in diagnosing chronic exertional compartment syndrome.[38] The average duration of symptoms prior to diagnosis is 28 months.[39]
## Treatment[edit]
### Acute[edit]
Use of a skin graft to close a fasciotomy wound.
Any external compression (tourniquet, orthopedic casts or dressings applied on the affected limb) should be removed. Cutting of the cast will reduce the intracompartmental pressure by 65%, followed by 10 to 20% pressure reduction once padding is cut. After removal of the external compression the limb should be placed at the level of the heart. The vital signs of the patient should be closely monitored. If the clinical condition does not improve, then fasciotomy is indicated to decompress the compartments. An incision large enough to decompress all the compartments is necessary. This surgical procedure is performed inside an operating theater under general or local anesthesia.[16] The timing of the fasciotomy wound closure is debated. Some surgeons suggest wound closure should be done seven days after fasciotomy.[16] Multiple techniques exist for closure of the surgical site including vacuum-assisted and shoelace. Both techniques are acceptable methods for closure, but the vacuum-assisted technique has led to longer hospitalization time.[40] A skin graft may be required to close the wound, which would complicate the treatment with a much longer hospitalization stay.[40]
### Chronic[edit]
Treatment for chronic exertional compartment syndrome can include decreasing or subsiding exercise and/or exacerbating activities, massage, non-steroidal anti-inflammatory medication, and physiotherapy. Chronic compartment syndrome in the lower leg can be treated conservatively or surgically. Conservative treatment includes rest, anti-inflammatory medications, and manual decompression. Warming the affected area with a heating pad may help to loosen the fascia prior to exercise. Icing the area may result in further constriction of the fascia and is not recommended before exercise. The use of devices that apply external pressure to the area, such as splints, casts, and tight wound dressings, should be avoided.[41] If symptoms persist after conservative treatment or if an individual does not wish to give up the physical activities which bring on symptoms, compartment syndrome can be treated by a surgery known as a fasciotomy.
A US military study conducted in 2012 found that teaching individuals with lower leg chronic exertional compartment syndrome to change their running style to a forefoot running technique abated symptoms in those with symptoms limited to the anterior compartment.[42] Running with a forefoot strike limits use of the tibialis anterior muscle which may explain the relief in symptoms in those with anterior compartment syndrome.
Hyperbaric oxygen therapy has been suggested by case reports – though as of 2011 not proven in randomized control trials – to be an effective adjunctive therapy for crush injury, compartment syndrome, and other acute traumatic ischemias, by improving wound healing and reducing the need for repetitive surgery.[43][44]
## Prognosis[edit]
A mortality rate of 47% has been reported for acute compartment syndrome of the thigh. According to one study the rate of fasciotomy for acute compartment syndrome varied from 2% to 24%.[16] This is due to uncertainty and differences in labeling a condition as acute compartment syndrome. The most significant prognostic factor in people with acute compartment syndrome is time to diagnosis and subsequent fasciotomy.[23] In people with a missed or late diagnosis of acute compartment syndrome, limb amputation may be necessary for survival.[45][35] Following a fasciotomy, some symptoms may be permanent depending on factors such as which compartment, time until fasciotomy, and muscle necrosis. Muscle necrosis can occur quickly, within 3 hours of original injury in some studies.[35] Fasciotomy of the lateral compartment of the leg may lead to symptoms due to the nerves and muscles in that compartment. These may include foot drop, numbness along leg, numbness of big toe, pain, and loss of foot eversion.[10]
## Epidemiology[edit]
In one case series of 164 people with acute compartment syndrome, 69% of the cases had an associated fracture. The authors of that article also calculated an annual incidence of acute compartment syndrome of 1 to 7.3 per 100,000.[46] There are significant differences in the incidence of acute compartment syndrome based on age and gender in the setting of trauma.[13] Men are ten times more likely than women to develop ACS. The mean age for ACS in men is 30 years while the mean age is 44 years for women.[16] Acute compartment syndrome may occur more often in individuals less than 35 years old due to increased muscle mass within the compartments .[8] The anterior compartment of the leg is the most common site for ACS.[8][47]
## See also[edit]
* Abdominal compartment syndrome
* Escharotomy
* Ischemia-repurfusion injuries of the appendicular musculoskeletal system
## References[edit]
1. ^ a b c d e f g h i j k l "Compartment Syndrome-OrthoInfo – AAOS". www.orthoinfo.org. October 2009. Archived from the original on 14 March 2017. Retrieved 29 July 2017.
2. ^ a b El-Darouti MA (2013). Challenging Cases in Dermatology. Springer Science & Business Media. p. 145. ISBN 9781447142492. Archived from the original on 2017-07-29.
3. ^ a b c d e Ferri FF (2017). Ferri's Clinical Advisor 2018 E-Book: 5 Books in 1. Elsevier Health Sciences. p. 317. ISBN 9780323529570. Archived from the original on 2017-07-29.
4. ^ a b Schmidt AH (July 2016). "Acute Compartment Syndrome". The Orthopedic Clinics of North America. 47 (3): 517–25. doi:10.1016/j.ocl.2016.02.001. PMID 27241376.
5. ^ a b c d e f g h i j k Donaldson J, Haddad B, Khan WS (2014). "The pathophysiology, diagnosis and current management of acute compartment syndrome". The Open Orthopaedics Journal. 8: 185–93. doi:10.2174/1874325001408010185. PMC 4110398. PMID 25067973.
6. ^ a b "Compartment Syndrome – National Library of Medicine". PubMed Health. Archived from the original on 10 September 2017. Retrieved 25 July 2017.
7. ^ Peitzman AB, Rhodes M, Schwab CW (2008). The Trauma Manual: Trauma and Acute Care Surgery. Lippincott Williams & Wilkins. p. 349. ISBN 9780781762755. Archived from the original on 2017-07-29.
8. ^ a b c d e f g h Torlincasi AM, Lopez RA, Waseem M (2020). "Acute Compartment Syndrome". StatPearls. StatPearls Publishing. PMID 28846257. Retrieved 2020-01-15.
9. ^ a b McQueen MM, Duckworth AD (October 2014). "The diagnosis of acute compartment syndrome: a review". European Journal of Trauma and Emergency Surgery. 40 (5): 521–8. doi:10.1007/s00068-014-0414-7. PMID 26814506. S2CID 38330727.
10. ^ a b Cone J, Inaba K (2017-09-14). "Lower extremity compartment syndrome". Trauma Surgery & Acute Care Open. 2 (1): e000094. doi:10.1136/tsaco-2017-000094. PMC 5877908. PMID 29766095.
11. ^ a b Bucholz RW (2012). Rockwood and Green's Fractures in Adults: Two Volumes Plus Integrated Content Website (Rockwood, Green, and Wilkins' Fractures). Lippincott Williams & Wilkins. p. 691. ISBN 9781451161441. Archived from the original on 2017-07-29.
12. ^ Miller MD, Wiesel SW (2012). Operative Techniques in Sports Medicine Surgery. Lippincott Williams & Wilkins. p. 437. ISBN 9781451124903. Archived from the original on 2017-07-29.
13. ^ a b c d e Garner MR, Taylor SA, Gausden E, Lyden JP (July 2014). "Compartment syndrome: diagnosis, management, and unique concerns in the twenty-first century". HSS Journal. 10 (2): 143–52. doi:10.1007/s11420-014-9386-8. PMC 4071472. PMID 25050098.
14. ^ a b Via AG, Oliva F, Spoliti M, Maffulli N (2015-03-27). "Acute compartment syndrome". Muscles, Ligaments and Tendons Journal. 5 (1): 18–22. PMC 4396671. PMID 25878982.
15. ^ a b Chandwani D, Varacallo M (2020). "Exertional Compartment Syndrome". StatPearls. StatPearls Publishing. PMID 31335004. Retrieved 2020-01-22.
16. ^ a b c d e f g h i j k l m n o Via AG, Oliva F, Spoliti M, Maffulli N (2015). "Acute compartment syndrome". Muscles, Ligaments and Tendons Journal. 5 (1): 18–22. PMC 4396671. PMID 25878982.
17. ^ {cite journal | vauthors = Dunn JC, Waterman BR | title = Chronic exertional compartment syndrome of the leg in the military | journal = Clinical Sports Medicine | volume = 33 | issue = 4 | pages = 693–705 | year = 2014 | pmid = 25280617 | doi = 10.1016/j.csm.2014.06.010 }}
18. ^ a b c Bong MR, Polatsch DB, Jazrawi LM, Rokito AS (2005). "Chronic exertional compartment syndrome: diagnosis and management" (PDF). Bulletin. 62 (3–4): 77–84. PMID 16022217.
19. ^ Awbrey B, Shingo T. "Chronic Exercise-Induced Compartment Syndrome of the Leg". Harvard Orthopaedic Journal. 1 (7). Archived from the original on 24 September 2015. Retrieved 16 October 2014.
20. ^ Shears E, Porter K (October 2006). "Acute compartment syndrome of the limb". Trauma. 8 (4): 261–266. doi:10.1177/1460408606076963. S2CID 70421198.
21. ^ Eichler GR, Lipscomb PR (January 1967). "The changing treatment of Volkmann's ischemic contractures from 1955 to 1965 at the Mayo Clinic". Clinical Orthopaedics and Related Research. 50: 215–23. doi:10.1097/00003086-196701000-00022. PMID 6029018.
22. ^ Kalyani BS, Fisher BE, Roberts CS, Giannoudis PV (March 2011). "Compartment syndrome of the forearm: a systematic review". The Journal of Hand Surgery. 36 (3): 535–43. doi:10.1016/j.jhsa.2010.12.007. PMID 21371630.
23. ^ a b Taylor RM, Sullivan MP, Mehta S (September 2012). "Acute compartment syndrome: obtaining diagnosis, providing treatment, and minimizing medicolegal risk". Current Reviews in Musculoskeletal Medicine. 5 (3): 206–13. doi:10.1007/s12178-012-9126-y. PMC 3535085. PMID 22644598.
24. ^ Bodansky D, Doorgakant A, Alsousou J, Iqbal HJ, Fischer B, Scicluna G, et al. (September 2018). "Acute Compartment Syndrome: Do guidelines for diagnosis and management make a difference?". Injury. 49 (9): 1699–1702. doi:10.1016/j.injury.2018.04.020. PMID 29699733.
25. ^ Stella M, Santolini E, Sanguineti F, Felli L, Vicenti G, Bizzoca D, Santolini F (July 2019). "Aetiology of trauma-related acute compartment syndrome of the leg: A systematic review". Injury. 50 Suppl 2: S57–S64. doi:10.1016/j.injury.2019.01.047. PMID 30772051.
26. ^ Konstantakos EK, Dalstrom DJ, Nelles ME, Laughlin RT, Prayson MJ (December 2007). "Diagnosis and management of extremity compartment syndromes: an orthopaedic perspective". The American Surgeon. 73 (12): 1199–209. doi:10.1177/000313480707301201. PMID 18186372. S2CID 1175827.
27. ^ Salcido R, Lepre SJ (October 2007). "Compartment syndrome: wound care considerations". Advances in Skin & Wound Care. 20 (10): 559–65, quiz 566-7. doi:10.1097/01.ASW.0000294758.82178.45. PMID 17906430. S2CID 39527465.
28. ^ Maerz L, Kaplan LJ (April 2008). "Abdominal compartment syndrome". Critical Care Medicine. 36 (4 Suppl): S212-5. doi:10.1097/CCM.0b013e318168e333. PMID 18382196. S2CID 23747298.
29. ^ Adams JG (2012). Emergency Medicine E-Book: Clinical Essentials (Expert Consult -- Online). Elsevier Health Sciences. p. 797. ISBN 9781455733941.
30. ^ Wanich T, Hodgkins C, Columbier JA, Muraski E, Kennedy JG (December 2007). "Cycling injuries of the lower extremity". The Journal of the American Academy of Orthopaedic Surgeons. 15 (12): 748–56. doi:10.5435/00124635-200712000-00008. PMID 18063715.
31. ^ Verleisdonk EJ (October 2002). "The exertional compartment syndrome: A review of the literature". Ortopedia, Traumatologia, Rehabilitacja. 4 (5): 626–31. PMID 17992173.
32. ^ a b c d Cetinus E, Uzel M, Bilgiç E, Karaoguz A, Herdem M (April 2004). "Exercise induced compartment syndrome in a professional footballer". British Journal of Sports Medicine. 38 (2): 227–9. doi:10.1136/bjsm.2003.004630. PMC 1724759. PMID 15039267.
33. ^ Liu B, Barrazueta G, Ruchelsman DE (November 2017). "Chronic Exertional Compartment Syndrome in Athletes". The Journal of Hand Surgery. 42 (11): 917–923. doi:10.1016/j.jhsa.2017.09.009. PMID 29101975.
34. ^ a b Touliopolous S, Hershman EB (March 1999). "Lower leg pain. Diagnosis and treatment of compartment syndromes and other pain syndromes of the leg". Sports Medicine. 27 (3): 193–204. doi:10.2165/00007256-199927030-00005. PMID 10222542. S2CID 28536488.
35. ^ a b c Long B, Koyfman A, Gottlieb M (April 2019). "Evaluation and Management of Acute Compartment Syndrome in the Emergency Department". The Journal of Emergency Medicine. 56 (4): 386–397. doi:10.1016/j.jemermed.2018.12.021. PMID 30685220.
36. ^ Walters TJ, Kottke MA, Hargens AR, Ryan KL (2019-04-01). "Non-invasive Diagnostics for Extremity Compartment Syndrome following Traumatic Injury: A State of the Art Review". The Journal of Trauma and Acute Care Surgery. 87: S59–S66. doi:10.1097/TA.0000000000002284. PMID 30939585.
37. ^ Blackman PG (March 2000). "A review of chronic exertional compartment syndrome in the lower leg". Medicine and Science in Sports and Exercise. 32 (3 Suppl): S4-10. doi:10.1249/00005768-200003001-00002. PMID 10730989.
38. ^ Gerstenmaier JF. "Chronic exertional compartment syndrome | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2020-01-23.
39. ^ Davis DE, Raikin S, Garras DN, Vitanzo P, Labrador H, Espandar R (2013). "Characteristics of patients with chronic exertional compartment syndrome". Foot & Ankle International. 34 (10): 1349–1354. doi:10.1177/1071100713490919. PMID 23669162. S2CID 25833426.
40. ^ a b Kakagia D, Karadimas EJ, Drosos G, Ververidis A, Trypsiannis G, Verettas D (May 2014). "Wound closure of leg fasciotomy: comparison of vacuum-assisted closure versus shoelace technique. A randomised study". Injury. 45 (5): 890–3. doi:10.1016/j.injury.2012.02.002. PMID 22377275.
41. ^ Meyer RS, White KK, Smith JM, Groppo ER, Mubarak SJ, Hargens AR (October 2002). "Intramuscular and blood pressures in legs positioned in the hemilithotomy position : clarification of risk factors for well-leg acute compartment syndrome". The Journal of Bone and Joint Surgery. American Volume. 84-A (10): 1829–35. doi:10.2106/00004623-200210000-00014. PMID 12377915. S2CID 29673550.
42. ^ Diebal AR, Gregory R, Alitz C, Gerber JP (May 2012). "Forefoot running improves pain and disability associated with chronic exertional compartment syndrome". The American Journal of Sports Medicine. 40 (5): 1060–7. doi:10.1177/0363546512439182. PMID 22427621. S2CID 26750051.
43. ^ Undersea and Hyperbaric Medical Society. "Crush Injury, Compartment syndrome, and other Acute Traumatic Ischemias". Archived from the original on 2008-05-08.
44. ^ Bouachour G, Cronier P, Gouello JP, Toulemonde JL, Talha A, Alquier P (August 1996). "Hyperbaric oxygen therapy in the management of crush injuries: a randomized double-blind placebo-controlled clinical trial". The Journal of Trauma. 41 (2): 333–9. doi:10.1097/00005373-199608000-00023. PMID 8760546. S2CID 30248376.
45. ^ Glass GE, Staruch RM, Simmons J, Lawton G, Nanchahal J, Jain A, Hettiaratchy SP (August 2016). "Managing missed lower extremity compartment syndrome in the physiologically stable patient: A systematic review and lessons from a Level I trauma center". The Journal of Trauma and Acute Care Surgery. 81 (2): 380–7. doi:10.1097/TA.0000000000001107. PMID 27192464. S2CID 28382682.
46. ^ McQueen MM, Gaston P, Court-Brown CM (March 2000). "Acute compartment syndrome. Who is at risk?". The Journal of Bone and Joint Surgery. British Volume. 82 (2): 200–3. doi:10.1302/0301-620x.82b2.0820200. PMID 10755426.
47. ^ Kiel J, Kaiser K (2020). "Tibial Anterior Compartment Syndrome". StatPearls. StatPearls Publishing. PMID 30085512. Retrieved 2020-01-31.
## External links[edit]
Classification
D
* ICD-10: M62.2, T79.6
* ICD-9-CM: 729.7, 958.9
* MeSH: D003161
* DiseasesDB: 3028
* SNOMED CT: 111245009
External resources
* MedlinePlus: 001224
* eMedicine: emerg/739
* Patient UK: Compartment syndrome
Wikimedia Commons has media related to Compartment syndrome.
* Compartment Syndrome of the Forearm – Orthopaedia.com
* Chronic Exertional Compartment Syndrome detailed at MayoClinic.com
* Compartment_syndrome at the Duke University Health System's Orthopedics program
* 05-062a. at Merck Manual of Diagnosis and Therapy Home Edition
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* American Association of Orthopaedic Surgeons Compartment Syndrome
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*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Compartment syndrome | c0009492 | 29,421 | wikipedia | https://en.wikipedia.org/wiki/Compartment_syndrome | 2021-01-18T18:50:42 | {"gard": ["6141"], "mesh": ["D003161"], "umls": ["C0009492"], "wikidata": ["Q1778968"]} |
The Yentl Syndrome is the different course of action that heart attacks usually follow for women than for men. This is a problem because much of medical research has focused primarily on symptoms of male heart attacks, and many women have died due to misdiagnosis because their symptoms present differently. The name is taken from the 1983 film Yentl starring Barbra Streisand in which her character plays the role of a male in order to receive the education she desires. The phrase was coined in a 1991 academic paper by Dr. Bernadine Healy titled "The Yentl syndrome."
## References[edit]
* Bairey Merz, C. Noel (August 2011). "The Yentl syndrome and gender inequality in ischemic HD". Cardiology Today. Retrieved 24 November 2014.
* Healy, Bernadine (25 July 1991), "The Yentl Syndrome", New England Journal of Medicine, 325 (4): 274–276, doi:10.1056/NEJM199107253250408, PMID 2057027
* Bairey Merz, C. Noel (December 2011). The single biggest health threat women face (Video Lecture). TEDxWomen.
* Orth-Gomer, Kristina (2000). "New light on the Yentl syndrome" (PDF). European Heart Journal. 21 (11): 874–875. doi:10.1053/euhj.1999.2025. PMID 10806007. Retrieved 24 November 2014.
* Thomas, Carolyn (17 April 2013), Yentl Syndrome: cardiology's gender gap is alive and well, Heart Sisters, retrieved 25 November 2014
* Yentl's syndrome, Whonamedit?, retrieved 25 November 2014
## External links[edit]
* C. Noel Bairey Merz, MD
* Heart Attack Symptoms in Women, American Heart Association, retrieved 25 November 2014
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Yentl Syndrome | None | 29,422 | wikipedia | https://en.wikipedia.org/wiki/Yentl_Syndrome | 2021-01-18T19:05:08 | {"wikidata": ["Q22909857"]} |
A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Wound myiasis | c0344061 | 29,423 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=165955 | 2021-01-23T17:24:45 | {"umls": ["C0344061"], "icd-10": ["B87.1"], "synonyms": ["Traumatic myiasis"]} |
For a phenotypic description of gout and a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900).
Mapping
Sulem et al. (2011) tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. Sulem et al. (2011) identified a low-frequency missense variant (1580C-G; rs150414818) in the ALDH16A1 gene (613358) on chromosome 19q13 associated with gout (OR = 3.12, p = 1.5 x 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 standard deviation, p = 4.5 x 10(-21)). The 1580C-G change results in a proline-to-arginine substitution at position 527 (P527R) encoded by the 17-exon transcript. The authors confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. Sulem et al. (2011) also found a second variant, on chromosome 1, associated with gout (UAQTL6; 614747).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 5 | c3553634 | 29,424 | omim | https://www.omim.org/entry/614746 | 2019-09-22T15:54:19 | {"omim": ["614746"]} |
Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of the condition is reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Many affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other problems with the reproductive system later in life.
In early adulthood, individuals with Gordon Holmes syndrome develop neurological problems, usually beginning with speech difficulties (dysarthria). As the condition worsens, affected individuals have problems with balance and coordination (cerebellar ataxia), often leading to difficulties with activities of daily living and a need for wheelchair assistance. Some affected individuals also develop memory problems and a decline in intellectual function (dementia).
## Frequency
Gordon Holmes syndrome is a rare condition. Its prevalence is unknown.
## Causes
Gordon Holmes syndrome can be caused by mutations in the RNF216 or PNPLA6 gene. Some people with the condition do not have mutations in these genes, indicating that mutations in other genes are likely involved in the condition.
The protein produced from the RNF216 gene is involved in a cellular process, called ubiquitination, by which unneeded proteins are tagged with a molecule called ubiquitin. The ubiquitin tag signals for the protein to be broken down. One of several proteins tagged by RNF216 is a protein found in nerve cells (neurons) that plays a role in a process called synaptic plasticity. Synaptic plasticity is the ability of the connections between neurons (synapses) to change and adapt over time in response to experience. This process is critical for learning and memory.
RNF216 gene mutations impair the ability of the RNF216 protein to tag unneeded proteins to be broken down. Impaired breakdown of the neuronal protein disrupts normal synaptic connections and plasticity, which likely contributes to dementia in people with Gordon Holmes syndrome. It is unclear how a lack of RNF216 protein function causes hypogonadotropic hypogonadism or cerebellar ataxia.
The PNPLA6 gene provides instructions for making a protein called neuropathy target esterase (NTE), which helps regulate the amount of certain fats (lipids) that make up the outer membrane surrounding cells. The correct levels of these lipids are critical to the stability and function of cell membranes. NTE is found most abundantly in the nervous system and is thought to help maintain the stability of membranes surrounding neurons. NTE is also thought to play a role in the release of hormones from the pituitary gland, a process that requires particular changes in the cell membrane. The pituitary gland is located at the base of the brain and produces several hormones, including those that help direct sexual development and growth.
PNPLA6 gene mutations are thought to impair NTE's function. Researchers speculate that such an impairment alters the balance of lipids in the cell membrane. This imbalance may damage neurons in the brain, causing cerebellar ataxia, and impair the pituitary gland's release of hormones involved in sexual development, leading to hypogonadotropic hypogonadism. Individuals with Gordon Holmes syndrome caused by PNPLA6 gene mutations do not appear to develop dementia.
### Learn more about the genes associated with Gordon Holmes syndrome
* PNPLA6
* RNF216
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gordon Holmes syndrome | c1859305 | 29,425 | medlineplus | https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome/ | 2021-01-27T08:25:27 | {"gard": ["3314"], "mesh": ["C565870"], "omim": ["212840"], "synonyms": []} |
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
## Epidemiology
The birth prevalence is estimated at 1/64,935 in the USA and 1/69,444 in the UK.
## Clinical description
Patients have varying clinical features including epilepsy (50-60% of cases), motor impairment, microcephaly and cognitive and learning disability. The severity of the clinical manifestations depends upon the extent of clefting and on whether other cerebral malformations are present. When a cleft affects one hemisphere alone (unilateral clefts), patients can have a hemiparesis but they may have little or no intellectual disability. Patients with bilateral clefts have a more severe phenotype that may be characterized by severe developmental impairment with spastic quadriplegia and severe intellectual disability. Schizencephaly is often associated with septo-optic dysplasia
## Etiology
The disorder usually results from an acquired defect of the cerebral mantle and often becomes apparent only in the second half of pregnancy. Schizencephaly has been linked to a young maternal age and to conditions secondary to vascular disruption such as maternal drug administration (e.g. warfarin), amniocentesis, and infections (cytomegalovirus). Mutations in the COL4A1 gene encoding the major type IV alpha collagen chain of basement membranes have been found responsible of some schizencephaly cases. Other genetic factors have been suggested to play a role in its pathogenesis, such as EMX2, SHH, and SIX3 that could act as susceptibility factors.
## Diagnostic methods
Postnatally, the diagnosis is made by computed tomography (CT) and/or magnetic resonance imaging (MRI) showing unilateral or bilateral clefting of the brain. There are different classification systems for schizencephaly but a frequently used one refers to clefts as either closed-lip (type I) when the tissue surrounding the clefts are closely opposed, and open-lip (type II) when the tissue is widely separated by cerebrospinal fluid. Cerebral malformations found in association with schizencephaly on neuroimaging studies include optic nerve hypoplasia, enlarged cerebral ventricles, absence of corpus callosum or septum pellucidum, cerebellar hypoplasia, or calcifications. Genetic testing will confirm mutations in the genes associated with susceptibility to the condition but these are rare.
## Differential diagnosis
Differential diagnosis includes porencephaly.
## Antenatal diagnosis
Prenatal diagnosis can made after 20 weeks of pregnancy by ultrasound examination or on in utero MRI, which demonstrates clefting and abnormalities of the cerebral mantle. The diagnosis may be confirmed post-natally by MRI, which may give additional information about the presence of septo-optic dysplasia and other abnormalities.
## Genetic counseling
Most cases are sporadic but some familial cases have also been observed with inheritance reported to be either autosomal recessive or autosomal dominant with variable penetrance. Genetic counseling should be proposed to at risk couples informing them that there is either 25% risk of transmitting the disease to offspring in the case of an autosomal recessive inheritance or 50% risk for an autosomal dominant inheritance.
## Management and treatment
Treatment consists on administration of anti-epileptic drugs in order to prevent seizures. In drug resistant cases (1/3rd of cases), surgery (e.g. resection of either the schizencephalic cleft alone or the cleft and surrounding epileptogenic tissue, temporal or frontotemporal lobectomy) can be performed. A regular neurologic evaluation is necessary. Physical and occupational therapy are essential.
## Prognosis
The prognosis is variable and depends on the degree of clefting and the association with other cerebral malformations. Individuals with schizencephaly can have features of a hemiparesis only but the clinical picture can extend to profound neurological impairment with spastic quadriplegia leading to immobility and to severe learning disability and epilepsy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Schizencephaly | c0266484 | 29,426 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=799 | 2021-01-23T17:24:31 | {"gard": ["166"], "mesh": ["D065707"], "omim": ["269160"], "umls": ["C0266484"], "icd-10": ["Q04.6"]} |
Developmental prosopagnosia is a lifelong condition that impairs a person's ability to recognize faces, in the absence of sensory visual problems and intellectual impairment. People with this condition have normal intelligence and memory, typical low-level vision, and no history of brain injury. They typically learn to use non-face cues including voice, walking style (gait) and hairstyle to recognize others. Symptoms that may vary include whether a person can perceive facial expressions normally, or recognize objects normally. The underlying genetic cause of developmental prosopagnosia is not yet known. Familial reports of this condition are consistent with autosomal dominant inheritance.
Developmental prosopagnosia differs from acquired prosopagnosia, in which a person develops face recognition difficulties as a result of brain injury (for example, from a stroke or trauma).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Developmental prosopagnosia | c2931455 | 29,427 | gard | https://rarediseases.info.nih.gov/diseases/10035/developmental-prosopagnosia | 2021-01-18T18:00:54 | {"mesh": ["C537242"], "omim": ["610382"], "synonyms": ["Face blindness", "Prosopagnosia, developmental", "Prosopagnosia, congenital", "Prosopagnosia, hereditary", "Hereditary prosopagnosia", "Congenital prosopagnosia"]} |
Ocular hypertension
SpecialtyOphthalmology
Ocular hypertension is the presence of elevated fluid pressure inside the eye (intraocular pressure), usually with no optic nerve damage or visual field loss.[1][2]
For most individuals, the normal range of intraocular pressure is between 10 mmHg and 21 mmHg.[3][4] Elevated intraocular pressure is an important risk factor for glaucoma. One study found that topical ocular hypotensive medication delays or prevents the onset of primary open-angle glaucoma.[5] Accordingly, most individuals with consistently elevated intraocular pressures of greater than 21mmHg, particularly if they have other risk factors, are treated in an effort to prevent vision loss from glaucoma.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Pathophysiology[edit]
The pressure within the eye is maintained by the balance between the fluid that enters the eye through the ciliary body and the fluid that exits the eye through the trabecular meshwork.[6]
## Diagnosis[edit]
The condition is diagnosed using ocular tonometry and glaucoma evaluation. Increased IOP without glaucomatous changes (in optic disc or visual field) is considered as ocular hypertension.[6]
## Treatment[edit]
Ocular hypertension is treated with either medications or laser. Medications that lower intraocular pressure work by decreasing aqueous humor production and/or increasing aqueous humor outflow. Laser trabeculoplasty works by increasing outflow. The cannabinoids found in cannabis sativa and indica (marijuana) have been shown to reduce intraocular pressure, by up to 50% for approximately four to five hours. But due to the duration of effect, significant side-effect profile, and lack of research proving efficacy, the American Glaucoma Society issued a position statement in 2009 regarding the use of marijuana as a treatment for glaucoma.[7]
## References[edit]
1. ^ American Academy of Ophthalmology Archived November 25, 2005, at the Wayback Machine
2. ^ American Optometric Association - Ocular Hypertension
3. ^ webMD - Tonometry
4. ^ "eMedicine - Glaucoma Overview". Archived from the original on 2008-07-04. Retrieved 2005-12-28.
5. ^ Kass, M.A. (2002). "The Ocular Hypertension Treatment Study". Arch Ophthalmol. 120 (6): 701–713. doi:10.1001/archopht.120.6.701.
6. ^ a b Salmon, John F. (2020). "Glaucoma". Kanski's clinical ophthalmology : a systematic approach (9th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-7713-5. OCLC 1131846767.
7. ^ Jampel, H (2010). "American Glaucoma Society Position Statement: Marijuana and the treatment of glaucoma". J Glaucoma. 19 (2): 75–76. doi:10.1097/ijg.0b013e3181d12e39. PMID 20160576.
## External links[edit]
Classification
D
* ICD-10: H40.0
* ICD-10-CM: H40.05
* ICD-9-CM: 365.04
* MeSH: D009798
* DiseasesDB: 5226
External resources
* eMedicine: oph/578
* eMedicine - Ocular Hypertension
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
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* Choroideremia
* Choroiditis
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Lens
* Cataract
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* Retinitis
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* Branch retinal artery occlusion
* Retinopathy
* diabetic
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* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ocular hypertension | c0028840 | 29,428 | wikipedia | https://en.wikipedia.org/wiki/Ocular_hypertension | 2021-01-18T19:05:20 | {"mesh": ["D009798"], "umls": ["C0028840"], "wikidata": ["Q9294051"]} |
Ophthalmodynia periodica
Other namesNeedle-in-the-eye syndrome, sharp short-lived head pain,[1] jabs and jolts syndrome[2]
Ophthalmodynia periodica is also known as "ice-pick headache", is a primary headache disorder, so it is not caused by any other conditions.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Classification
* 4 Epidemiology
* 5 References
* 6 External links
## Signs and symptoms[edit]
1. Stabbing sensations, usually in one area of the head
2. Pain may move to different areas of the head
3. Pain lasts for a few seconds ("usually 5–30")
4. Pain appears out of nowhere
5. Pain is completely gone after each occurrence
6. Each occurrence happens at varied frequencies[3]
## Cause[edit]
Ophthalmodynia periodica does not have a confirmed cause, being a primary headache, but can be identified with other primary conditions. "As many as 40% of all individuals with ice pick headaches have also been diagnosed as suffering with some form of migraine headache."[4]
## Diagnosis[edit]
The following diagnostic criteria are given for ophthalmodynia periodica:
1. Head pain occurring as a single stab or a series of stabs
2. Can be felt in the areas surrounding the eyes and temples but is "typically felt on the top, front, or sides of the head"[5]
3. Pain lasting only a few seconds with irregular frequency
4. No cranial autonomic symptoms
5. "Not attributed to another disorder"[6]
### Classification[edit]
The International Headache Society classifies ophthalmodynia periodica as a primary stabbing headache.[7]
## Epidemiology[edit]
Ophthalmodynia periodica was first discovered by a doctor in 1964, where the disorder was first referred to as ophthalmodynia periodica. Since then, the disorder has been referred to as idiopathic stabbing headache.[8]
## References[edit]
1. ^ "Ice Pick Headaches - The Basics". Health Central. Remedy Health Media. Retrieved 20 March 2015.
2. ^ "Idiopathic stabbing headache". Med Link. Med Link Corporation. Retrieved 20 March 2015.
3. ^ "Ice Pick Headaches". Ice Pick Headaches. Retrieved 21 March 2015.
4. ^ "IHS Classification ICHD - II". IHS Classification. Retrieved 20 March 2015.
5. ^ https://www.healthline.com/health/headache/ice-pick-headaches#symptoms
6. ^ "IHS Classification ICHD - II". IHS Classification. Retrieved 20 March 2015.
7. ^ "IHS Classification ICHD - II". IHS Classification. Retrieved 20 March 2015.
8. ^ "Idiopathic stabbing headache". Med Link. Med Link Corporation. Retrieved 20 March 2015.
## External links[edit]
WebMd article on Ice Pick Headaches
Healthline article on Ice Pick Headaches
Primary Stabbing Headaches
Classification
D
* ICD-10: G44.800
* v
* t
* e
Headache
Primary
ICHD 1
* Migraine
* Familial hemiplegic
* Retinal migraine
ICHD 2
* Tension
* Mixed tension migraine
ICHD 3
* Cluster
* Chronic paroxysmal hemicrania
* SUNCT
ICHD 4
* Hemicrania continua
* Thunderclap headache
* Sexual headache
* New daily persistent headache
* Hypnic headache
Secondary
ICHD 5
* Migralepsy
ICHD 7
* Ictal headache
* Post-dural-puncture headache
ICHD 8
* Hangover
* Medication overuse headache
ICHD 13
* Trigeminal neuralgia
* Occipital neuralgia
* External compression headache
* Cold-stimulus headache
* Optic neuritis
* Postherpetic neuralgia
* Tolosa–Hunt syndrome
Other
* Vascular
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ophthalmodynia periodica | c0751191 | 29,429 | wikipedia | https://en.wikipedia.org/wiki/Ophthalmodynia_periodica | 2021-01-18T18:43:32 | {"mesh": ["D051270"], "umls": ["C0751191"], "icd-9": ["339.85"], "wikidata": ["Q11816694"]} |
Allergic bronchopulmonary aspergillosis is an allergic lung reaction to a type of fungus (Aspergillus fumigatus). Symptoms vary, but may include wheezing, bronchial hyperreactivity, hemoptysis, productive cough, low-grade fever, malaise, and weight loss. It is more common in people who have asthma or cystic fibrosis. The recommended treatment for allergic bronchopulmonary aspergillosis is itraconazole, a prescription antifungal medication. Oral corticosteroids, like prednisone, may also be helpful. The clinical course of allergic bronchopulmonary aspergillosis is variable. Many people with this condition can be stabilized for long periods when treated. However, only about 50% of patients achieve long-lasting remission and many require recurrent courses of treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Allergic bronchopulmonary aspergillosis | c0004031 | 29,430 | gard | https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis | 2021-01-18T18:02:12 | {"mesh": ["D001229"], "omim": ["103920"], "orphanet": ["1164"], "synonyms": ["ABPA", "Allergic bronchopulmonary mycosis", "Aspergillosis, allergic bronchopulmonary", "Hinson-Pepys disease"]} |
The Plague of Sheroe[1] (627–628) or Sheroe's Plague[2] was an epidemic that devastated the western provinces of the Sasanian Empire, mainly Mesopotamia (Asorestan), killing half of its population,[3] including the reigning Sasanian king (shah) which the plague is named after, Kavad II Sheroe (r. 628).[4][2]
The Plague of Sheroe was one of several epidemics that occurred in or close to Iran within two centuries after the first plague pandemic was brought by the Sasanian armies from its campaigns in Constantinople, Syria, and Armenia.[2] It contributed to the fall of the Sasanian Empire.[citation needed]
## See also[edit]
* Plague of Justinian
## References[edit]
1. ^ Daryaee & Rezakhani 2017, p. 161.
2. ^ a b c Christensen 1993, p. 81.
3. ^ Princeton Papers in Near Eastern Studies. Westerham, UK: Darwin Press. 1992. p. 141.
4. ^ Shahbazi 2005.
## Sources[edit]
* Christensen, Peter (1993). The Decline of Iranshahr: Irrigation and Environments in the History of the Middle East, 500 B.C. to A.D. 1500. Museum Tusculanum Press. pp. 1–351. ISBN 9788772892597.
* Daryaee, Touraj; Rezakhani, Khodadad (2017). "The Sasanian Empire". In Daryaee, Touraj (ed.). King of the Seven Climes: A History of the Ancient Iranian World (3000 BCE - 651 CE). UCI Jordan Center for Persian Studies. pp. 1–236. ISBN 9780692864401.
* Shahbazi, A. Shapur (2005). "SASANIAN DYNASTY". Encyclopaedia Iranica, Online Edition.
* v
* t
* e
Pandemics, epidemics and notable disease outbreaks
* List of epidemics
Local
Ancient
* Hittite plague (c. 1320–1300 BC)
* Plague of Athens (429–426 BC)
* Antonine Plague (165–180 AD)
* Plague of Cyprian (250–266)
Post-classical
* First plague pandemic (541–767)
* Plague of Justinian (541–542)
* Roman Plague (590)
* Plague of Sheroe (627–628)
* Plague of Amwas (638–639)
* Plague of 664 (664–689)
* Japanese smallpox (735–737)
* Black Death (1347–1351)
* Sweating sickness (1485–1551)
Early modern
16th century
* Influenza pandemic (1510)
* Mexican smallpox (1520)
* Influenza pandemic (1557–1559)
* London plague (1563–1564)
* Maltese plague (1592–1593)
* London plague (1592–1593)
17th century
* Maltese plague (1623)
* Italian plague (1629–1631)
* Massachusetts smallpox (1633)
* Great Plague of Seville (1647–1652)
* Maltese plague (1655)
* Naples Plague (1656)
* Great Plague of London (1665–1666)
* Maltese plague (1675–1676)
* Great Plague of Vienna (1679)
18th century
* Great Northern War plague (1710–1712)
* Great Plague of Marseille (1720–1722)
* Great Plague of 1738 (1738)
* Russian plague (1770–1772)
* Persian Plague (1772)
* North American smallpox (1780–1782)
* Philadelphia yellow fever (1793–1798)
Modern
19th century
* Ottoman plague (1812–1819)
* Maltese plague (1813–1814)
* Caragea's plague (1813)
* Groningen epidemic (1829)
* Great Plains smallpox (1837–1838)
* Typhus (1847–1848)
* Copenhagen cholera (1853)
* Stockholm cholera (1853)
* Broad Street cholera (1854)
* Buenos Aires yellow fever (1871)
20th century
* San Francisco plague (1900–1904)
* Manchurian plague (1910–1911)
* LA pneumonic plague (1924)
* Croydon typhoid (1937)
* NYC smallpox (1947)
* Yugoslav smallpox (1972)
* London flu (1972–1973)
* Indian smallpox (1974)
* Surat plague (1994)
* Malaysian Nipah virus (1998–1999)
21st century
* Singaporean dengue (2005)
* Indian dengue (2006)
* Chikungunya outbreaks (2006)
* Pakistani dengue (2006)
* Iraqi cholera (2007)
* Zimbabwean cholera (2008–2009)
* Bolivian dengue (2009)
* Gujarat hepatitis (2009)
* Western African meningitis (2009–2010)
* Haiti cholera (2010–2019)
* Pakistani dengue (2011)
* Darfur yellow fever (2012)
* Swansea measles (2013)
* Western African Ebola (2013–2016)
* DR Congo Ebola (2014)
* Madagascar plague (2014)
* Odisha jaundice (2014)
* Polio declaration (2014)
* Indian swine flu (2015)
* South Korean MERS (2015)
* Angolan yellow fever (2016)
* Yemeni cholera (2016–present)
* Gorakhpur Japanese encephalitis (2017)
* Saudi Arabian MERS (2018)
* Kerala Nipah virus (2018)
* Équateur province Ebola (2018)
* Kivu Ebola (2018–2020)
* Madagascar measles (2018)
* Samoa measles (2019–present)
* Philippine measles (2019–present)
* Pacific NW measles (2019)
* New York measles (2019)
* Kuala Koh measles (2019)
* Tonga measles (2019)
* DRC measles (2019–2020)
* New Zealand measles (2019–present)
Global
* Influenza pandemic (1510)
* Influenza pandemic (1557–1559)
* Second plague pandemic (1348–19th century)
* First cholera pandemic (1816–1826)
* Second cholera pandemic (1829–1851)
* Third cholera pandemic (1852–1860)
* Third plague pandemic (1855–1960)
* Fourth cholera pandemic (1863–1879)
* Fifth cholera pandemic (1881–1896)
* 1889 flu (1889–1890)
* Sixth cholera pandemic (1899–1923)
* Spanish flu (1918–1920)
* Asian flu (1957–1958)
* Seventh cholera pandemic (1961–1975)
* Hong Kong flu (1968–1970)
* HIV/AIDS (1981–present)
* SARS (2002–2004)
* Bird flu (2003–2005)
* Mumps (2009)
* Madagascar plague (2008–2017)
* Swine flu (2009–2010)
* MERS (2012–present)
* Chikungunya (2013–2014)
* Zika (2015–2016)
* COVID-19 (2019–present)
This Iranian history-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This epidemic\- or pandemic\- related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Plague of Sheroe | None | 29,431 | wikipedia | https://en.wikipedia.org/wiki/Plague_of_Sheroe | 2021-01-18T18:29:02 | {"wikidata": ["Q65091887"]} |
CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CAD-CDG | c4225320 | 29,432 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=448010 | 2021-01-23T19:01:00 | {"omim": ["616457"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Iz", "CDG-Iz", "CDG1Z", "Carbohydrate deficient glycoprotein syndrome type Iz", "Congenital disorder of glycosylation type 1z"]} |
Personality disorder involving orderliness
"OCPD" redirects here. It is not to be confused with Obsessive-compulsive disorder. For other uses, see OCPD (disambiguation).
Obsessive-compulsive personality disorder
Other namesAnankastic personality disorder[1]
One of the symptoms of OCPD is a great attention to detail
SpecialtyPsychiatry
SymptomsObsession with rules and order; perfectionism; excessive devotion to productivity; inability to delegate tasks; zealotry on matters of morality; rigidity and stubbornness
Usual onsetAdolescence to early adulthood[2]
Risk factorsNegative life experiences, genetics
Differential diagnosisObsessive-compulsive disorder, personality disorders, substance use disorder, personality disorder due to another medical condition[3]
TreatmentPsychotherapy
Frequency3% to 8% prevalence in the general population[4]
Personality disorders
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive–compulsive
Not specified
* Depressive
* Haltlose
* Immature
* Passive–aggressive
* Cyclothymic
* Psychopathy
* v
* t
* e
Obsessive–compulsive personality disorder (OCPD) is a cluster C personality disorder marked by an excessive need for orderliness, neatness, and perfectionism. Symptoms are usually present by the time a person reaches adulthood, and are visible in a variety of situations.[5]
The cause of OCPD is thought to involve a combination of genetic and environmental factors, namely problems with attachment.[4]
This is a distinct disorder from obsessive-compulsive disorder (OCD), and the relation between the two is contentious. Some studies have found high comorbidity rates between the two disorders but others have shown little comorbidity.[6][7] Both disorders may share outside similarities; rigid and ritual-like behaviors, for example. Attitudes toward these behaviors differ between people affected with either of the disorders: for people with OCD, these behaviors are egodystonic;[8] unwanted and involuntary, being the product of anxiety-inducing and involuntary thoughts. On the other hand, for people with OCPD, they are egosyntonic; the person perceives them as rational and wanted, being the result of, for example, strong adherence to routines, a desire for control, or a need for perfection. OCPD is highly comorbid with other personality disorders, Asperger's syndrome,[9][10] eating disorders,[11] anxiety, mood disorders, and substance use disorders.[4]
The disorder is the most common personality disorder in the United States,[12] and is diagnosed twice as often in males as in females,[5] however, there is evidence to suggest the prevalence between men and women is equal.[4]
## Contents
* 1 Signs and symptoms
* 1.1 Attention to order and perfection
* 1.2 Devotion to productivity
* 1.3 Rigidity
* 1.4 Restricted emotions and interpersonal functioning
* 1.5 Interpersonal control
* 1.6 Millon's subtypes
* 1.6.1 The Conscientious Compulsive
* 1.6.2 The Puritanical Compulsive
* 1.6.3 The Bureaucratic Compulsive
* 1.6.4 The Parsimonious Compulsive
* 1.6.5 The Bedevilled Compulsive
* 2 Cause
* 3 Diagnosis
* 3.1 DSM-5
* 3.1.1 Alternative model for diagnosis
* 3.1.2 Differential diagnosis
* 3.2 ICD-10
* 4 Comorbidity
* 4.1 Obsessive-compulsive disorder
* 4.2 Asperger's syndrome
* 4.3 Eating disorders
* 4.4 Other disorders and conditions
* 5 Treatment
* 6 Epidemiology
* 7 History
* 8 See also
* 9 References
* 10 Further reading
* 11 External links
## Signs and symptoms[edit]
Obsessive-compulsive personality disorder (OCPD) is marked by an excessive obsession with rules, lists, schedules, and order; a need for perfectionism that interferes with efficiency and the ability to complete tasks; a devotion to productivity that hinders interpersonal relationships and leisure time; rigidity and zealousness on matters of morality and ethics; an inability to delegate responsibilities or work to others; restricted functioning in interpersonal relationships; restricted expression of emotion and affect; and a need for control over one's environment and self.[5][13]
Some of OCPD's symptoms are persistent and stable, whilst others are unstable. The obsession with perfectionism, reluctance to delegate tasks to others, and rigidity and stubbornness are stable symptoms. On the other hand, the symptoms that were most likely to change over time were the miserly spending style and the excessive devotion to productivity.[14] This discrepancy in the stability of symptoms may lead to mixed results in terms of the course of the disorder, with some studies showing a remission rate of 58% after a 12 month period, whilst others suggesting that the symptoms are stable and may worsen with age.[4]
### Attention to order and perfection[edit]
People with OCPD tend to be obsessed with controlling their environments; to satisfy this need for control, they become preoccupied with trivial details, lists, procedures, rules, and schedules.[5] They lose sight of the main objective of a task due to the obsessions. For example, a person with OCPD may devise a schedule for cleaning up the house, then decide that they should complete the more time-consuming tasks first, then they might decide to sort the tasks in alphabetical order. Next, they may decide to plan how they will complete each task down to the meticulous detail, and so on, until they have dedicated such a large portion of time to perfecting the schedule that they do not have enough time to clean the house.
This preoccupation with details and rules makes the person unable to delegate tasks and responsibilities to other people unless they submit to their exact way of completing a task because they believe that there is only one correct way of doing something. They stubbornly insist that a task or job must be completed their way, and only their way, and may micromanage people when they are assigned a group task. They are frustrated when other people suggest alternative methods. A person with this disorder may reject help even when they desperately need it as they believe that only they can do something correctly.[5]
People with OCPD are obsessed with maintaining perfection. The perfectionism and the extremely high standards that they establish are to their detriment and may cause delays and failures to complete objectives and tasks.[5] Every mistake is thought of as a major catastrophe that will soil their reputation for life. For example, a person may write an essay for a college, and then believe that it fell short of "perfection", so they continue rewriting it until they miss the deadline. They may never complete the essay due to the self-imposed high standards. They are unaware that other people may become frustrated and annoyed by the repeated delays and hassles that this behavior causes. Work relationships may then become a source of tension.[5]
Devotion to productivity is an observed symptom of OCPD
### Devotion to productivity[edit]
Individuals with OCPD devote themselves to work and productivity at the expense of interpersonal relationships and recreation. Economic necessity, such as poverty, cannot account for this behavior.[5] They may believe that they do not have sufficient time to relax because they have to prioritize their work above all. They may refuse to spend time with friends and family because of that. They may find it difficult to go on a vacation, and even if they book a vacation, they may keep postponing it until it never happens. They may feel uncomfortable when they do go on a vacation and will take something along with them so they can work. They choose hobbies that are organized and structured, and they approach them as a serious task requiring work to perfect. The devotion to productivity in OCPD, however, is distinct from work addiction. OCPD is controlled and ego-syntonic, whereas work addiction is uncontrolled and ego-dystonic, and the person afflicted may display signs of withdrawal.[15]
### Rigidity[edit]
Individuals with OCPD are overconscientious, scrupulous, and rigid and inflexible on matters of morality, ethics, and other areas of life. They may force themselves and others to follow rigid moral principles and strict standards of performance. They are self-critical and harsh about their mistakes. These symptoms should not be accounted for or caused by a person's culture or religion.[5] Their view of the world is polarised and dichotomous; there is no grey area between what is right and what is wrong. Whenever this dichotomous view of the world cannot be applied to a situation, this causes internal conflict as the person's perfectionist tendencies are challenged.[16]
People with this disorder are so obsessed with doing everything the "right and correct" way that they have a hard time understanding and appreciating the ideas, beliefs, and values of other people, and are reluctant to change their views, especially on matters of morality and politics.[5]
### Restricted emotions and interpersonal functioning[edit]
Individuals with this disorder may display little affection and warmth; their relationships and speech tend to have a formal and professional approach, and not much affection is expressed even to loved ones, such as greeting or hugging a significant other at an airport or train station.[5]
They are extremely careful in their interpersonal interactions. They have little spontaneity when interacting with others, and ensure that their speech follows rigid and austere standards by excessively scrutinising it. They filter their speech for embarrassing or imperfect articulation, and they have a low bar for what they consider to be such. They lower their bar even further when they are communicating with their superiors or with a person of high status. Communication becomes a time-consuming and exhausting effort, and they start avoiding it altogether. Others regard them as cold and detached as a result.[13]
Their need for restricting affect is a defense mechanism used to control their emotions.[13] They may expunge emotions from their memories and organize them as a library of facts and data; the memories are intellectualized and rationalized, not experiences that they can feel. This helps them avoid unexpected emotions and feelings and allows them to remain in control. They view self-exploration as a waste of time and have a patronising attitude towards emotional people.[13]
### Interpersonal control[edit]
Individuals with OCPD are at one extreme of the conscientiousness continuum. While conscientiousness is a desirable trait generally, its extreme presentation for those with OCPD leads to interpersonal problems. OCPD individuals present as over-controlled and this extends to the relationships they have with other people. Individuals with OCPD are referential to authority and rules. OCPD individuals may therefore punish those who violate their strict standards. The inability to accept differences in belief or behaviors from others often leads to high conflict and controlling relationships with coworkers, spouses, and children.[17]
### Millon's subtypes[edit]
In his book, Personality Disorders in Modern Life, Theodore Millon describes 5 types of obsessive-compulsive personality disorder, which he shortened to compulsive personality disorder.[13]
#### The Conscientious Compulsive[edit]
Millon described those with conscientious compulsive traits as displaying a dependent form of compulsive personality disorder. Those with conscientious compulsivity view themselves as helpful, co-operative, and compromising. They downplay their achievements and abilities and base their confidence on the opinions and expectations of others; this compensates for their feelings of insecurity and instability. They assume that devotion to work and striving for perfection will lead to them receiving love and reassurance. They believe that making a mistake or not achieving perfection will lead to abandonment and criticism. This mindset causes perpetual feelings of anxiety and an inability to appreciate their work.[13]:
#### The Puritanical Compulsive[edit]
The puritanical compulsive is a blend of paranoid and compulsive features. They have strong internal impulses that are countered vociferously through the use of religion. They are constantly battling their impulses and sexual drives, which they view as irrational. They attempt to purify and pacify the urges by adopting a cold and detached lifestyle. They create an enemy which they use to vent their hostility, such as "non-believers", or "lazy people". They are patronizing, bigoted, and zealous in their attitude toward others. Their beliefs are polarized into "good" and "evil".[13]:231
#### The Bureaucratic Compulsive[edit]
The bureaucratic compulsive displays signs of narcissistic traits alongside the compulsivity. They are champions of tradition, values, and bureaucracy. They cherish organizations that follow hierarchies and feel comforted by definitive roles between subordinates and superiors, and the known expectations and responsibilities. They derive their identity from work and project an image of diligence, reliability, and commitment to their institution. They view work and productivity in a polarized manner; either done or not. They may use their power and status to inflict fear and obedience in their subordinates if they do not strictly follow their rules and procedures, and derive pleasure from the sense of control and power that they acquire by doing so.[13]:232–233
#### The Parsimonious Compulsive[edit]
The parsimonious compulsive is hoarding and possessive in nature; they behave in a manner congruent with schizoid traits. They are selfish, miserly, and are suspicious of others' intentions, believing that others may take away their possessions. This attitude may be caused by parents who deprived their child of wants or wishes but provided necessities, causing the child to develop an extreme protective approach to their belongings, often being self-sufficient and distant from others. They use this shielding behavior to prevent having their urges, desires, and imperfections discovered.[13]:233
#### The Bedevilled Compulsive[edit]
This form of compulsive personality is a mixture of negativistic and compulsive behavior. When faced with dilemmas, they procrastinate and attempt to stall the decision through any means. They are in a constant battle between their desires and will, and may engage in self-defeating behavior and self-torture in order to resolve the internal conflict. Their identity is unstable, and they are indecisive.[13]:235
## Cause[edit]
The cause of OCPD is thought to involve a combination of genetic and environmental factors.[4] There is clear evidence to support the theory that OCPD is genetically inherited, however, the relevance and impact of genetic factors varies with studies placing it somewhere between 27% and 78%.[4] Too few studies have dealt with the specific gene involved in the disorder's heritability, and more research is required to ascertain the exact genes.
Other studies have found links between attachment theory and the development of OCPD. According to this hypothesis, those with OCPD have never developed a secure attachment style, had overbearing parents, were shown little care, and were unable to develop empathetically and emotionally.[4]
## Diagnosis[edit]
### DSM-5[edit]
The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, a widely used manual for diagnosing mental disorders, places obsessive compulsive personality disorder under section II, under the "personality disorders" chapter, and defines it as: "a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control, at the expense of flexibility, openness, and efficiency, beginning by early adulthood and present in a variety of contexts". A diagnosis of OCPD is only received when four out of the eight criteria are met.
#### Alternative model for diagnosis[edit]
The DSM-5 also includes an alternative set of diagnostic criteria as per the dimensional model of conceptualising personality disorders. Under the proposed set of criteria, a person only receives a diagnosis when there is an impairment in two out of four areas of one's personality functioning, and when there are three out of four pathological traits, one of which must be rigid perfectionism.
The patient must also meet the general criteria C through G for a personality disorder, which state that the traits and symptoms being displayed by the patient must be stable and unchanging over time with an onset of at least adolescence or early adulthood, visible in a variety of situations, not caused by another mental disorder, not caused by a substance or medical condition, and abnormal in comparison to a person's developmental stage and culture/religion.
#### Differential diagnosis[edit]
There are several mental disorders in the DSM-5 that are listed as differential diagnoses for OCPD. They are as follows:
* Obsessive-compulsive disorder. OCD and OCPD have a similar name which may cause confusion; however, OCD can be easily distinguished from OCPD by the absence of true obsessions or compulsions.
* Hoarding disorder. A diagnosis of hoarding disorder is only considered when the hoarding behavior exhibited is causing severe impairment in the functioning of the person, such as an inability to access rooms in a house due to excessive hoarding.
* Narcissistic personality disorder. Individuals with narcissistic personality disorder may believe that they are perfect and that no one else can be as "perfect" or "right" as them; however, people with narcissistic personality disorder usually believe that they have achieved perfection and cannot get better, whereas those with OCPD do not believe that they have achieved perfection, and are self-critical. Those with NPD tend to be stingy and lack generosity; however, they are usually generous when spending on themselves, unlike those with OCPD who hoard money and are miserly on themselves and others.
* Antisocial personality disorder. Similarly, individuals with anti personality disorder are not generous and miserly around others, although they usually over-indulge themselves and are sometimes reckless in spending.
* Schizoid personality disorder. Schizoid personality disorder and obsessive-compulsive personality disorder may both display restricted affectivity and coldness; however, in OCPD, this is usually due to a controlling attitude, whereas in SPD, it occurs due to a lack of ability to experience emotion and display affection.
* Other personality traits. Obsessive-compulsive personality traits may be particularly useful and helpful, especially in productive environments. Only when these traits become extreme, maladaptive, and cause clinically significant impairment in several aspects of one's life should a diagnosis of OCPD be considered.
* Personality change due to another medical condition. Obsessive–compulsive personality disorder must be differentiated from a personality change due to a medical condition, which affects the central nervous system, and may cause changes in behavior and traits.
* Substance use disorders. Substance use may cause the advent of obsessive-compulsive traits. It is necessary that this is distinguished from underlying and persistent behavior, which must occur when a person is not under influence of a substance.
### ICD-10[edit]
The World Health Organization's ICD-10 uses the term anankastic personality disorder (F60.5).[18] Anankastic is derived from the Greek word ἀναγκαστικός (Anankastikos: "compulsion"). The criteria for the disorder are generally similar to the DSM-5 criteria, with the largest difference being the absence of hoarding as a criterion for diagnosis. Under this set of criteria person can only receive a diagnosis when four out of the eight prescribed criteria.It is also a requirement of ICD-10 that a diagnosis of any specific personality disorder satisfies a set of general personality disorder criteria.
## Comorbidity[edit]
Several disorders have been observed to have a higher risk of comorbidity with OCPD, they include: obsessive-compulsive disorder, eating disorders, Asperger's syndrome, depression, and anxiety.
### Obsessive-compulsive disorder[edit]
OCPD is often confused with obsessive-compulsive disorder (OCD). Despite the similar names, they are two distinct disorders. Some OCPD individuals do have OCD, and the two can be found in the same family,[6] sometimes along with eating disorders.[19] People with OCPD do not generally feel the need to repeatedly perform ritualistic actions—a common symptom of OCD—and usually find pleasure in perfecting a task, whereas people with OCD are often more distressed after their actions.
The rate of comorbidity of OCPD in patients with OCD is estimated to be around 15-28%.[20] However, due to the addition of the hoarding disorder diagnosis in the DSM-5, and studies showing that hoarding may not be a symptom of OCPD, the true rate of comorbidity may be much lower.[20]
There is significant similarity in the symptoms of OCD and OCPD, which can lead to complexity in distinguishing them clinically. For example, perfectionism is an OCPD criterion and a symptom of OCD if it involves the need for tidiness, symmetry, and organization. Hoarding is also considered both a compulsion found in OCD and a criterion for OCPD in the DSM-5. Even though OCD and OCPD are seemingly separate disorders there are obvious redundancies between the two concerning several symptoms.[21]
Regardless of similarities between the OCPD criteria and the obsessions and compulsions found in OCD, there are discrete qualitative dissimilarities between these disorders, predominantly in the functional part of symptoms. Unlike OCPD, OCD is described as invasive, and stressful. Time-consuming obsessions and habits are aimed at reducing the obsession related stress. OCD symptoms are at times regarded as ego-dystonic because they are experienced as alien and repulsive to the person. Therefore, there is a greater mental anxiety associated with OCD.[21]
In contrast, the symptoms seen in OCPD, although repetitive, are not linked with repulsive thoughts, images, or urges. OCPD characteristics and behaviors are known as ego-syntonic, as people with this disorder view them as suitable and correct. On the other hand, the main features of perfectionism and inflexibility can result in considerable suffering in an individual with OCPD as a result of the associated need for control.[21]
The presence of OCPD in patients with OCD has been linked to a worse prognosis of OCD, especially when cognitive behavioral therapy was used.[20] This may be due to the ego-syntonic nature of OCPD which may lead to the obsessions becoming aligned with one's personal values. In contrast, the trait of perfectionism may improve the outcome of treatment as patients are likely to complete homework assigned to them with determination.[20] The findings with regards to pharmacological treatment has also been mixed, with some studies showing a lower reception to SRIs in OCD patients with comorbid OCPD, with others showing no relationship.[20]
Comorbidity between OCD and OCPD has been linked to a more severe presentation of symptoms,[22] a younger age of onset,[20] more significant impairment in functioning, poorer insight,[23] and higher comorbidity of depression and anxiety.[23]
### Asperger's syndrome[edit]
There are considerable similarities and overlap between Asperger's syndrome and OCPD,[9] such as list-making, inflexible adherence to rules, and obsessive aspects of Asperger's syndrome, although the latter may be distinguished from OCPD especially regarding affective behaviors, worse social skills, difficulties with Theory of Mind and intense intellectual interests, e.g. an ability to recall every aspect of a hobby.[24] A 2009 study involving adult autistic people found that 40% of those diagnosed with Asperger's syndrome met the diagnostic requirements for a comorbid OCPD diagnosis.[10]
### Eating disorders[edit]
In people with eating disorders, 13% also have OCPD.[4]
Regardless of the prevalence of the full-fledged OCPD among eating disordered samples, the presence of this personality disorder or its traits, such as perfectionism, has been found to be positively correlated with a range of complications in eating disorders and a negative outcome, as opposed to impulsive features—those linked with histrionic personality disorder, for example—which predict a better outcome from treatment.[25] OCPD predicts more severe symptoms of Anorexia Nervosa,[26] and worse remission rates,[26] however, OCPD and perfectionistic traits predicted a higher acceptance of treatment, which was defined as undergoing 5 weeks of treatment.[26]
People with Anorexia Nervosa who exercise excessively display a higher prevalence of several OCPD traits when compared to their counterparts who did not exercise excessively.[27] The traits included self-imposed perfectionism, and the childhood OCPD traits of being rule-bound and cautious. It may be that people with OCPD traits are more likely to use exercise alongside restricting food intake in order to mitigate fears of increased weight, to reduce anxiety, or to reduce obsessions related to weight gain.[27] Samples that had the childhood traits of rigidity, extreme cautiousness, and perfectionism endured more severe food restriction and higher levels of exercise, and underwent longer periods of underweight status. It may be that OCPD traits are an indicator of a more severe manifestation of AN which is harder to treat.[27]
Perfectionism has been linked with AN in research for decades. A researcher in 1949 described the behavior of the average “anorexic girl” as being "rigid" and "hyperconscious", observing a tendency to "[n]eatness, meticulosity, and a mulish stubbornness not amenable to reason [which] make her a rank perfectionist".[28]
### Other disorders and conditions[edit]
A diagnosis of OCPD is common with anxiety disorders, substance use disorders, and mood disorders.[4] OCPD is also highly comorbid with Cluster A personality disorders,[4]
Psychiatric disorder Prevalence of OCPD in 12 month diagnosis[4]
Substance use disorder 12–25%
Mood disorders 24%
Major depressive disorder 23–28%
Bipolar disorder 26–39%
Anxiety disorders 23–24%
Generalised anxiety disorder 34%
Panic disorder 23–38%
Social anxiety disorder 33%
Specific phobia 22%
especially paranoid and schizotypal personality disorders.[4] OCPD has also been linked to a higher relapse in those who are treated for major depressive disorder,[29] and a higher risk of suicidal behaviour.[29] The table on the left shows the comorbidity rates for OCPD among each psychiatric disorder listed.
OCPD is also linked to hypochondriasis, with some studies estimating a rate of co-occurrence as high as 55.7%.[29] This may be due to the similar nature of the condition to OCPD, namely the need for control and the low tolerance for ambiguity and uncertainty in both.
Moreover, OCPD has been found to be very common among some medical conditions, including Parkinson's disease and the hypermobile subtype of Ehler-Danlos syndrome. The latter maybe explain by the need for control that arises from musculoskeletal problems and the associated features that arise early in life, whilst the former can be explain by dysfunctions in the fronto-basal ganglia circuitry.[4]
## Treatment[edit]
Pyschotherapy is a proposed treatment for OCPD
The best validated treatment for OCPD is cognitive therapy (CT) or cognitive behavioral therapy (CBT), with studies showing an improvement in areas of personality impairment, and reduced levels of anxiety and depression.[4] Group CBT is also associated with an increase in extraversion and agreeableness, and a reduced neuroticism.[4] Interpersonal psychotherapy has been linked to even better results when it came to reducing depressive symptoms.
## Epidemiology[edit]
Estimates for the prevalence of OCPD in the general population range from 3% to 8%, making it the most common personality disorder.[4] Some studies show no gender differences, but others show OCPD more prevalent among men.[4] It is estimated to occur in 8.7% of psychiatric outpatient settings.[4]
## History[edit]
Sigmund Freud, 1921
In 1908, Sigmund Freud named what is now known as obsessive-compulsive or anankastic personality disorder "anal retentive character".[30][31] He identified the main strands of the personality type as a preoccupation with orderliness, parsimony (frugality), and obstinacy (rigidity and stubbornness). The concept fits his theory of psychosexual development. Freud believed that the anal retentive character faced difficulties regulating the control of defecation, leading to repercussions by the parents, and it is the latter that would cause the anal retentive character.[32]
Aubrey Lewis, in 1936, in his book Problems of Obsessional Illness,[33] Lewis suggests that anal-erotic characteristics are found in patients without obsessive thoughts, and proposed two types of obsessional personality, one melancholy and stubborn, the other uncertain and indecisive.[34]
In the book Contributions to the theory of the anal character, Karl Abraham noted that the core feature of the anal character is being perfectionistic, and he believed that these traits will help an individual in becoming industrious and productive, whilst hindering their social and interpersonal functioning, such as working with others.[34]
OCPD was included in the first edition of the Diagnostic and Statistical Manual of Mental Disorders in 1952 by the American Psychiatric Association under the name "compulsive personality". It was defined as a chronic and excessive preoccupation with adherence to rules and standards of conscience. Other symptoms included rigidity, overconscientiousness, and a reduced ability to relax.[35]
The DSM-II (1968) changed the name to "obsessive-compulsive personality", and also suggested the term "anankastic personality" in order to reduce confusion between OCPD and OCD, but the proposed name was removed from later editions. The symptoms described in the DSM-II closely resembled those in the original DSM.[36]
In 1980, the DSM-III was released, and it renamed the disorder back to "compulsive personality disorder", and also included new symptoms of the disorder: a restricted expression of affect, and an inability to delegate tasks. Devotion to productivity, perfectionism and indecisiveness were the other symptoms included.[37] The DSM-III-R (1987) renamed the disorder again to "obsessive-compulsive personality disorder" and the name has remained since then. A diagnosis of OCPD was given when 5 of the 9 symptoms were met, and the 9 symptoms included perfectionism, preoccupation with details, an insistence that others submit to one's way, indecisiveness, devotion to work, restricted expression of affect, overconscientiousness, lack of generosity, and hoarding.[38]
The current criteria in the DSM-5 have been carried over from the DSM-IV (1994), and the DSM-IV-TR (2000).
With DSM-IV, OCPD was classified as a 'Cluster C' personality disorder. There was a dispute about the categorization of OCPD as an Axis II anxiety disorder. Although the DSM-IV attempted to distinguish between OCPD and OCD by focusing on the absence of obsessions and compulsions in OCPD, OC personality traits are easily mistaken for abnormal cognitions or values considered to underpin OCD. The disorder is neglected and understudied area of research[39] and further research is needed to conceptualise this disorder in a more concrete manner.
## See also[edit]
* Psychology portal
* Analysis paralysis
* Anal retentiveness
* Authoritarian personality
* Compulsive hoarding
* Germaphobia
* Jobsworth
* Pedantic
* Scrupulosity
## References[edit]
1. ^ Samuels J, Costa PT (2012). "Obsessive-Compulsive Personality Disorder". In Widiger T (ed.). The Oxford Handbook of Personality Disorders. Oxford University Press. p. 568. ISBN 978-0-19-973501-3.
2. ^ Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) (5th ed.). United States: American Pyschiatric Association. May 18, 2013. pp. 681–682. ISBN 978-0-89042-554-1.
3. ^ Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) (5th ed.). United States: American Pyschiatric Association. May 18, 2013. pp. 681–682. ISBN 978-0-89042-554-1.
4. ^ a b c d e f g h i j k l m n o p q r Diedrich A, Voderholzer U (February 2015). "Obsessive-compulsive personality disorder: a current review". Current Psychiatry Reports. 17 (2): 2. doi:10.1007/s11920-014-0547-8. PMID 25617042. S2CID 20999600.
5. ^ a b c d e f g h i j k Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) (5th ed.). United States: American Pyschiatric Association. May 18, 2013. pp. 678–681. ISBN 978-0-89042-554-1.
6. ^ a b Samuels J, Nestadt G, Bienvenu OJ, Costa PT, Riddle MA, Liang KY, Hoehn-Saric R, Grados MA, Cullen BA (November 2000). "Personality disorders and normal personality dimensions in obsessive-compulsive disorder". The British Journal of Psychiatry : The Journal of Mental Science. 177 (5): 457–62. doi:10.1192/bjp.177.5.457. PMID 11060001.
7. ^ Thamby A, Khanna S (January 2019). "The role of personality disorders in obsessive-compulsive disorder". Indian Journal of Psychiatry. 61 (Suppl 1): S114–S118. doi:10.4103/psychiatry.IndianJPsychiatry_526_18. PMC 6343421. PMID 30745684.
8. ^ Diagnostic and statistical manual of mental disorders : DSM-5 (5th ed.). American Psychiatric Association. May 2013. p. 237. ISBN 978-0-89042-554-1.
9. ^ a b Gillberg C, Billstedt E (November 2000). "Autism and Asperger syndrome: coexistence with other clinical disorders". Acta Psychiatrica Scandinavica. 102 (5): 321–30. doi:10.1034/j.1600-0447.2000.102005321.x. PMID 11098802. S2CID 40070782.
10. ^ a b Hofvander B, Delorme R, Chaste P, Nydén A, Wentz E, Ståhlberg O, et al. (June 2009). "Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders". BMC Psychiatry. 9 (1): 35. doi:10.1186/1471-244x-9-35. PMC 2705351. PMID 19515234.
11. ^ Young S, Rhodes P, Touyz S, Hay P (2013-05-02). "The relationship between obsessive-compulsive personality disorder traits, obsessive-compulsive disorder and excessive exercise in patients with anorexia nervosa: a systematic review". Journal of Eating Disorders. 1 (1): 16. doi:10.1186/2050-2974-1-16. PMC 4081792. PMID 24999397.
12. ^ Sansone RA, Sansone LA (April 2011). "Personality disorders: a nation-based perspective on prevalence". Innovations in Clinical Neuroscience. 8 (4): 13–8. PMC 3105841. PMID 21637629.
13. ^ a b c d e f g h i j Millon T, Millon CM, Meagher M, Grossman S, Ramnath R (2004). Personality disorders in modern life (2nd. ed.). Wiley. pp. 223–258. ISBN 978-0-471-23734-1.
14. ^ Fineberg NA, Reghunandanan S, Kolli S, Atmaca M (2014). "Obsessive-compulsive (anankastic) personality disorder: toward the ICD-11 classification". Revista Brasileira de Psiquiatria. 36 Suppl 1: 40–50. doi:10.1590/1516-4446-2013-1282. PMID 25388611.
15. ^ Atroszko PA, Demetrovics Z, Griffiths MD (January 2020). "Work Addiction, Obsessive-Compulsive Personality Disorder, Burn-Out, and Global Burden of Disease: Implications from the ICD-11". International Journal of Environmental Research and Public Health. 17 (2): 660. doi:10.3390/ijerph17020660. PMC 7014139. PMID 31968540.
16. ^ Rowland TA, Jainer AK, Panchal R (December 2017). "Living with obsessional personality". BJPsych Bulletin. 41 (6): 366–367. doi:10.1192/pb.41.6.366a. PMC 5709690. PMID 29234518.
17. ^ Hertler, Steven C. (June 1, 2014). "The Continuum of Conscientiousness: The Antagonistic Interests among Obsessive and Antisocial Personalities". Polish Psychological Bulletin. 45 (2): 167–178. doi:10.2478/ppb-2014-0022.
18. ^ "Anankastic personality disorder". International Statistical Classification of Diseases and Related Health Problems. ICD-10 (10th Revision ed.). Archived from the original on 2014-11-02.
19. ^ Halmi KA, Tozzi F, Thornton LM, Crow S, Fichter MM, Kaplan AS, et al. (December 2005). "The relation among perfectionism, obsessive-compulsive personality disorder and obsessive-compulsive disorder in individuals with eating disorders". The International Journal of Eating Disorders. 38 (4): 371–4. doi:10.1002/eat.20190. PMID 16231356.
20. ^ a b c d e f Thamby, Abel; Khanna, Sumant (January 2019). "The role of personality disorders in obsessive-compulsive disorder". Indian Journal of Psychiatry. 61 (Suppl 1): S114–S118. doi:10.4103/psychiatry.IndianJPsychiatry_526_18. ISSN 0019-5545. PMC 6343421. PMID 30745684.
21. ^ a b c Pinto Ay, Eisen JL, Mancebo MC, Rasmussen SA (2008). "Obsessive-Compulsive Personality Disorder" (PDF). In Abramowitz JS, McKay D, Taylor S (eds.). Obsessive-Compulsive Disorder: Subtypes and Spectrum Conditions. Elsevier. pp. 246–263. ISBN 978-0-08-044701-8.
22. ^ Starcevic V, Brakoulias V (January 2014). "New diagnostic perspectives on obsessive-compulsive personality disorder and its links with other conditions". Current Opinion in Psychiatry. 27 (1): 62–7. doi:10.1097/YCO.0000000000000030. PMID 24257122. S2CID 6364483.
23. ^ a b Fineberg NA, Day GA, de Koenigswarter N, Reghunandanan S, Kolli S, Jefferies-Sewell K, et al. (October 2015). "The neuropsychology of obsessive-compulsive personality disorder: a new analysis". CNS Spectrums. 20 (5): 490–9. doi:10.1017/S1092852914000662. hdl:2299/16555. PMID 25776273.
24. ^ Fitzgerald M, Corvin A (2001-07-01). "Diagnosis and differential diagnosis of Asperger syndrome". Advances in Psychiatric Treatment. 7 (4): 310–318. doi:10.1192/apt.7.4.310. ISSN 1355-5146.
25. ^ Lilenfeld LR, Wonderlich S, Riso LP, Crosby R, Mitchell J (May 2006). "Eating disorders and personality: a methodological and empirical review". Clinical Psychology Review. 26 (3): 299–320. doi:10.1016/j.cpr.2005.10.003. PMID 16330138.
26. ^ a b c Crane AM, Roberts ME, Treasure J (November 2007). "Are obsessive-compulsive personality traits associated with a poor outcome in anorexia nervosa? A systematic review of randomized controlled trials and naturalistic outcome studies". The International Journal of Eating Disorders. 40 (7): 581–8. doi:10.1002/eat.20419. PMID 17607713.
27. ^ a b c Young S, Rhodes P, Touyz S, Hay P (May 2013). "The relationship between obsessive-compulsive personality disorder traits, obsessive-compulsive disorder and excessive exercise in patients with anorexia nervosa: a systematic review". Journal of Eating Disorders. 1 (1): 16. doi:10.1186/2050-2974-1-16. PMC 4081792. PMID 24999397.
28. ^ DuBOIS FS (August 1949). "Compulsion neurosis with cachexia (anorexia nervosa)". The American Journal of Psychiatry. 106 (2): 107–15. doi:10.1176/ajp.106.2.107. PMID 18135398.
29. ^ a b c Starcevic V, Brakoulias V (January 2014). "New diagnostic perspectives on obsessive-compulsive personality disorder and its links with other conditions". Current Opinion in Psychiatry. 27 (1): 62–7. doi:10.1097/YCO.0000000000000030. PMID 24257122. S2CID 6364483.
30. ^ Haslam N (2016), "Anal Expulsive/Anal Retentive Personality", in Zeigler-Hill V, Shackelford TK (eds.), Encyclopedia of Personality and Individual Differences, Cham: Springer International Publishing, pp. 1–2, doi:10.1007/978-3-319-28099-8_1357-1, ISBN 978-3-319-28099-8
31. ^ Freud S. Jensen's 'Gradiva' and Other Works (1906-1908). 9 (Standard ed.). Karnac Books. Retrieved 2020-08-02.
32. ^ Freud S (September 1995). Gay P (ed.). The Freud Reader. W. W. Norton & Company. ISBN 978-0393314038.
33. ^ Lewis, Aubrey (February 1936). "Problems of Obsessional Illness". Proceedings of the Royal Society of Medicine. 29 (4): 325–336. doi:10.1177/003591573602900418. ISSN 0035-9157. PMC 2075767. PMID 19990606.
34. ^ a b Grant, Jon E.; Pinto, Anthony; Chamberlain, Samuel, eds. (October 2019). Obsessive-compulsive personality disorder. Washington, D.C.: American Psychiatric Association Publishing. p. 3. ISBN 978-1-61537-280-5. OCLC 45375754.
35. ^ Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association. 1952. p. 57.
36. ^ Diagnostic and Statistical Manual of Mental Disorders (2nd ed.). American Psychiatric Association. 1968. p. 43.
37. ^ Diagnostic and Statistical Manual of Mental Disorders (3rd ed.). American Psychiatric Association. 1980. pp. 326–328.
38. ^ Diagnostic and statistical manual of mental disorders : DSM-III-R. American Psychiatric Association., American Psychiatric Association. Work Group to Revise DSM-III. (3rd, revised ed.). Washington, DC. pp. 354–356. ISBN 0-89042-018-1. OCLC 16395933.CS1 maint: others (link)
39. ^ Reddy MS, Vijay MS, Reddy S (2016). "Obsessive-compulsive (Anankastic) Personality Disorder: A Poorly Researched Landscape with Significant Clinical Relevance". Indian Journal of Psychological Medicine. 38 (1): 1–5. doi:10.4103/0253-7176.175085. PMC 4782437. PMID 27011394.
## Further reading[edit]
* Grant, John E., Obsessive Compulsive Personality Disorder (2019). American Psychiatric Association Publishing. ISBN 978-1-61537-280-5
## External links[edit]
* MedlinePlus Encyclopedia: Obsessive–compulsive personality disorder
Classification
D
* ICD-10: F60.5
* ICD-9-CM: 301.4
* MeSH: D003193
External resources
* MedlinePlus: 000942
* v
* t
* e
DSM personality disorders
DSM-III-R only
* Sadistic
* Self-defeating (masochistic)
DSM-IV only
Personality disorder not otherwise specified
Appendix B (proposed)
* Depressive
* Negativistic (passive–aggressive)
DSM-5
(Categorical
model)
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive-compulsive
DSM-5
Alternative hybrid categorical and dimensional model in Section III included to stimulate further research
* v
* t
* e
Personality disorders
Schizotypal
* Schizotypal
Specific
* Anankastic
* Anxious (avoidant)
* Dependent
* Dissocial
* Emotionally unstable
* Histrionic
* Paranoid
* Schizoid
*
Other
* Eccentric
* Haltlose
* Immature
* Narcissistic
* Passive–aggressive
* Psychoneurotic
Organic
* Organic
Unspecified
* Unspecified
* v
* t
* e
Obsessive–compulsive disorder
History
* Yale–Brown Obsessive Compulsive Scale
Biology
Neuroanatomy
* Basal ganglia (striatum)
* Orbitofrontal cortex
* Cingulate cortex
* Brain-derived neurotrophic factor
Receptors
* 5-HT1Dβ
* 5-HT2A
* 5-HT2C
* μ Opioid
* H2
* NK1
* M4
* NMDA
Symptoms
* Obsessions (associative
* diagnostic
* injurious
* scrupulous
* pathogenic
* sexual)
* Compulsions (impulses, rituals
* tics)
* Thought suppression (avoidance)
* Hoarding (animals, books
* possessions)
Treatment
Serotonergics
Selective serotonin reuptake inhibitors
* Escitalopram
* Fluoxetine
* Fluvoxamine
* Paroxetine
* Sertraline
* Citalopram
* Nefazodone
Serotonin–norepinephrine reuptake inhibitors
* Venlafaxine
* Desvenlafaxine
* Duloxetine
Serotonin–norepinephrine–dopamine reuptake inhibitors
* Nefazodone
Monoamine oxidase inhibitors
* Phenelzine
* Tranylcypromine
Tricyclic antidepressants
* Clomipramine
Serotonergic psychedelics
* Lysergic acid diethylamide
* Psilocin
Atypical antipsychotics
* Aripiprazole
* Quetiapine
Mu opioidergics
* Hydrocodone
* Morphine
* Tramadol
Anticholinergics
* Diphenhydramine
NMDA glutamatergics
* Riluzole
NK-1 tachykininergics
* Aprepitant
Other
* Nicotine
* Memantine
* Tautomycin
Behavioral
* Cognitive behavioral therapy (Exposure and response prevention)
* Inference-based therapy
* Metacognitive therapy
Organizations
* International OCD Foundation
Notable people
* Edna B. Foa
* Stanley Rachman
* Adam S. Radomsky
* Jeffrey M. Schwartz
* Susan Swedo
* Emily Colas
* Vic Meyer
Popular culture
Literature/Comics
Fictional
* Matchstick Men
* Plyushkin
* Xenocide
Nonfiction
* Everything in Its Place
* Just Checking
Media
* As Good as It Gets
* The Aviator
* Matchstick Men
* Adrian Monk
* "$pringfield"
* Straight Up
Related
* Obsessive–compulsive personality disorder
* Obsessional jealousy
* PANDAS
* Primarily Obsessional OCD
* Relationship obsessive–compulsive disorder
* Social anxiety disorder
* Tourette syndrome
* v
* t
* e
Conformity
Enforcement
Proscription
* Enemy of the people
* Enemy of the state
* Ostracism
* Outlaw
* Civil death
* Vogelfrei
* Public enemy
Group pressure
* Bandwagon effect
* Collectivism
* Coercive persuasion
* Consensus reality
* Deplatforming
* Dogma
* Contagion
* Behavioral
* Crime
* Hysterical
* Suicide
* Fear of missing out
* Groupthink
* Hazing
* Herd mentality
* Indoctrination
* Invented tradition
* Memory conformity
* Milieu control
* Mobbing
* Nationalism
* Normalization
* Normative social influence
* Patriotism
* Peer pressure
* Pluralistic ignorance
* Propaganda
* Rally 'round the flag effect
* Right-wing authoritarianism
* Scapegoating
* Shunning
* Social influence
* Socialization
* Spiral of silence
* Teasing
* Tyranny of the majority
* Untouchability
* Xeer
Individual pressure
* Authoritarian personality
* Control freak
* Obsessive–compulsive personality disorder
Conformity
* Compliance
* Communal reinforcement
* Countersignaling
* Herd behavior
* Internalization
* Social proof
* Obedience
Experiments
* Asch conformity experiments
* Breaching experiment
* Milgram experiment
* Stanford prison experiment
Counterconformity
* Alternative media and journalism
* Anti-authoritarianism
* Antisocial tendencies
* Auto-segregation
* Civil disobedience
* Cosmopolitanism
* Counterculture
* Culture jamming
* Deviance
* Devil's advocate
* Dissent
* Eclecticism
* Eccentricity
* Hermit
* Idiosyncrasy
* Individualism
* Rebellion
* Red team
* Ritual clown
* Satire
* Shock value
Counterconformists
* Dissident
* Outcast
* Homo sacer
* Persona non grata
* Exile
* Nonperson
* Damnatio memoriae
* Cagot
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Obsessive–compulsive personality disorder | c0086040 | 29,433 | wikipedia | https://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder | 2021-01-18T19:10:18 | {"mesh": ["D003193"], "icd-10": ["F60.5"], "wikidata": ["Q231578"]} |
A number sign (#) is used with this entry because of evidence that tooth agenesis-colorectal cancer syndrome is caused by heterozygous mutation in the AXIN2 gene (604025) on chromosome 17q24.
Clinical Features
Lammi et al. (2004) described a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregated with dominant inheritance. Eleven members of the family lacked at least 8 permanent teeth; 2 of them developed only 3 permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in 8 of the patients with oligodontia.
Molecular Genetics
Using positional cloning, Lammi et al. (2004) demonstrated that the oligodontia and predisposition to cancer in this family were caused by an arg656-to-ter mutation in the AXIN2 gene (R656X; 604025.0003). In addition, they identified a de novo frameshift mutation in AXIN2 in an unrelated 13-year-old boy with severe tooth agenesis who may have been too young to manifest colorectal neoplasia.
In 3 probands with mild oligodontia, who were missing 7 to 10 teeth each, Bergendal et al. (2011) identified heterozygosity for 1 frameshift and 2 missense mutations in the AXIN2 gene, respectively. The patients were not clinically ascertained, but reported no other ectodermal features or colorectal cancer in themselves or other family members. One of the patients, a 17-year-old girl who was missing 8 teeth and whose mother was missing 9 teeth, carried the same 1994dupG mutation that had been previously reported in a 13-year-old boy with severe tooth agenesis by Lammi et al. (2004).
In a 3-generation family segregating autosomal dominant oligodontia variably associated with colon or gastric polyps, early-onset colorectal and/or breast cancer, and sparse hair and eyebrows, Marvin et al. (2011) identified a heterozygous nonsense mutation in the AXIN2 gene (W663X; 604025.0004). The proband, her mother, 2 maternal aunts, and her deceased maternal grandmother all had oligodontia. Of the 5 affected individuals, 4 had sparse hair and eyebrows; 3 had colon polyps and/or colon cancer, and 1 also had breast cancer diagnosed at age 44 years. Only the maternal grandmother, who died at age 97, had no known history of polyps or cancer.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Sparse eyebrows, especially laterally (in some patients) Teeth \- Oligodontia \- Permanent tooth agenesis, severe CHEST Breasts \- Breast cancer, early-onset (in some patients) ABDOMEN Gastrointestinal \- Colorectal cancer \- Polyps, fundic gland \- Adenomatous polyps, colon SKIN, NAILS, & HAIR Hair \- Sparse scalp hair (in some patients) \- Sparse eyebrows, especially laterally (in some patients) \- Scant body hair (in some patients) NEOPLASIA \- Colorectal cancer, early onset \- Breast cancer, early-onset (in some patients) MOLECULAR BASIS \- Caused by mutation in the axis inhibitor 2 gene (AXIN2, 604025.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| OLIGODONTIA-COLORECTAL CANCER SYNDROME | c1837750 | 29,434 | omim | https://www.omim.org/entry/608615 | 2019-09-22T16:07:33 | {"mesh": ["C563898"], "omim": ["608615"], "orphanet": ["300576"], "synonyms": ["Alternative titles", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2013)
Perifolliculitis is the presence of inflammatory cells in the skin around the hair follicles.[1] It is often found accompanying folliculitis, or inflammation of the hair follicle itself. It can have infectious or non-infectious causes.[2]
## References[edit]
1. ^ Dermatology (4 ed.). Elsevier. 2018. pp. 1–43.
2. ^ Weedon's Skin Pathology (4 ed.). Elsevier. 2016. pp. 3–18.
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
* v
* t
* e
Inflammation
Symptoms
* Flushing (Rubor)
* Fever (Calor)
* Swelling (Tumor)
* Pain (Dolor)
* Malaise
Mechanism
Acute
Plasma-derived mediators
* Bradykinin
* complement
* C3
* C5a
* MAC
* coagulation
* Factor XII
* Plasmin
* Thrombin
Cell-derived mediators
preformed:
* Lysosome granules
* biogenic amines
* Histamine
* Serotonin
synthesized on demand:
* cytokines
* IFN-γ
* IL-8
* TNF-α
* IL-1
* eicosanoids
* Leukotriene B4
* Prostaglandins
* Nitric oxide
* Kinins
Chronic
* Macrophage
* Epithelioid cell
* Giant cell
* Granuloma
Other
* Acute-phase reaction
* Vasodilation
* Increased vascular permeability
* Exudate
* Leukocyte extravasation
* Chemotaxis
Tests
* Full blood count
* Leukocytosis
* C-reactive protein
* Erythrocyte sedimentation rate
General
* Lymphadenopathy
* List of inflammed body part states
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Perifolliculitis | c0263006 | 29,435 | wikipedia | https://en.wikipedia.org/wiki/Perifolliculitis | 2021-01-18T18:50:52 | {"umls": ["C0263006"], "wikidata": ["Q7168462"]} |
Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial cervical artery dissection | None | 29,436 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36382 | 2021-01-23T18:59:36 | {"icd-10": ["I72.0", "I72.5"], "synonyms": ["Familial CAD", "Hereditary CAD", "Hereditary cervical artery dissection"]} |
A number sign (#) is used with this entry because susceptibility to atrioventricular septal defect-2 (AVSD2) is conferred by heterozygous mutation in the gene encoding cell adhesion molecule CRELD1 (607170) on chromosome 3p25.
For a phenotypic description and a discussion of genetic heterogeneity of AVSD, see 606215.
Mapping
Green et al. (2000) studied 10 individuals with chromosome 3pter-p25 deletions (613792), 5 of whom had congenital heart disease. Congenital heart defects, typically AVSD, occur in approximately one-third of individuals with 3p- syndrome (Phipps et al., 1994; Drumheller et al., 1996). Green et al. (2000) identified a susceptibility locus for AVSD in cytogenetic band 3p25, bounded by markers at D3S1263 and D3S3594, an interval of 3.7 cM.
Kozma et al. (2004) studied a family segregating a balanced t(1;3)(q42.3;p25) translocation that led to 2 types of viable unbalanced complements: derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p, and derivative chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. The authors noted that both rearrangements led to profound mental and physical retardation and congenital heart defects, but each had a distinct facial dysmorphism. Two patients with derivative chromosome 3 had large AVSDs.
Molecular Genetics
Robinson et al. (2003) analyzed a group of subjects with partial AVSD for mutations in the CRELD1 gene, which maps to chromosome 3p25 and is expressed in the developing heart. They identified heterozygous mutations in the CRELD1 gene in 3 of 50 patients, including mutations in isolated AVSD (607170.0001-607170.0002) and AVSD associated with heterotaxy syndrome (607170.0003).
Among 49 patients with AVSD, Zatyka et al. (2005) identified 5 novel sequence variants in the CRELD1 gene. Three of the novel variants were also identified in normal controls, 1 was a silent change, and 1 was also seen in 2 family members without congenital heart disease (607170.0004). Genetic analysis of 12 patients with 3p- syndrome showed that the CRELD1 gene was deleted in all 5 patients with an AVSD but was also deleted in 4 patients without congenital heart disease. Zatyka et al. (2005) concluded that CRELD1 deletions are unlikely to account for AVSD in children with 3p deletions but that rare missense mutations may confer susceptibility to AVSD in a subset of patients.
Ackerman et al. (2012) confirmed the role of CRELD1 in AVSD in a study of 141 individuals with Down syndrome and complete AVSD (cases) and 141 individuals with Down syndrome and no congenital heart defect (controls) to determine whether rare genetic variants in genes involved in atrioventricular valvuloseptal morphogenesis contribute to AVSD in this sensitized population. Ackerman et al. (2012) found a significant excess (p less than 0.0001) of variants predicted to be deleterious in cases compared to controls. At the most stringent level of filtering, they found potentially damaging variants in nearly 20% of cases but in fewer than 3% of controls. The variants with the highest probability of being damaging in cases only were found in 6 genes: COL6A1 (120220), COL6A2 (120240), CRELD1, FBLN2 (135821), FRZB (605083), and GATA5 (611496). Of note, all of these genes are in the VEGFA (192240) pathway, suggesting to Ackerman et al. (2012) that rare variants in this pathway might contribute to the genetic underpinnings of AVSD in humans.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Atrioventricular septal defect, partial \- Dextrocardia \- Pulmonary atresia Vascular \- Right aortic arch \- Aorta arises from right ventricle MISCELLANEOUS \- Incomplete penetrance \- Genetic heterogeneity (see 606215 ) MOLECULAR BASIS \- Caused by mutations in the cysteine-rich protein with EGF-like domain 1 gene (CRELD1, 607170.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 | c1389018 | 29,437 | omim | https://www.omim.org/entry/606217 | 2019-09-22T16:10:34 | {"mesh": ["C562831"], "omim": ["606217"], "orphanet": ["98722"]} |
Tabakoff et al. (1988) demonstrated that platelet adenylate cyclase (AC) activity, when stimulated in vitro by several compounds including cesium fluoride, is significantly reduced in alcoholics compared with control subjects. Complex segregation analysis of basal, i.e., unstimulated, platelet adenylate cyclase activity in families revealed a pattern of distribution that could not be accounted for by a simple mixed model of transmission. On the other hand, Devor et al. (1991) found that adenylate cyclase activity stimulated by fluoride ion occurred in a family pattern consistent with a single major locus effect with a modest multifactorial background.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PLATELET ADENYLATE CYCLASE ACTIVITY | c1868264 | 29,438 | omim | https://www.omim.org/entry/173395 | 2019-09-22T16:36:13 | {"omim": ["173395"]} |
Soot tattoos are a cutaneous condition produced by injections of residual carbon on the needle after flaming of the tip.[1]
## Soot tattoo in history[edit]
Carbon-based pigments such as soot have been used to create tattoos on human skin all across the world for at least the last 5,300 years. The oldest examples of carbon-based tattooing discovered to date appear as 61 marks on the body of the 5,300 year old Tyrolean ice mummy known as Ötzi, discovered in 1991 near Similaun mountain and Hauslabjoch on the border between Austria and Italy.[2] This is also believed to be the oldest example of all human tattooing. Skin samples from several of the Iceman's tattoos were examined by researchers using optical microscopes, bright field transmission electron microscopy (TEM), energy dispersive X-ray spectroscopy (EDXS), electron energy loss spectrometry (EELS), energy filtering TEM (EFTEM) and electron diffraction.[3] This work determined that Ötzi's tattoos were created using carbon-base pigments derived from soot and ash. Microscopic quartz crystals identified among the carbon particles are believed to have originated from stones around the fireplace where the carbon was collected.
Carbon-based tattoo pigments were used throughout the ancient world,[4] and carbon continues to be a principal ingredient in modern tattoo ink.[5]
## See also[edit]
* Carbon stain
* List of cutaneous conditions
* Tattoo
## 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.
2. ^ "Otzi: The Discovery". South Tyrol Museum of Archaeology. Retrieved 1 February 2018.
3. ^ Pabst, M.A.; Letofsky-Papst, I.; Bock, E.; Moser, M.; Dorfer, L.; Egarter-Vigl, E.; Hofer, F. (2009). "The tattoos of the Tyrolean Iceman: a light microscopical, ultrastructural and element analytical study". Journal of Archaeological Science. 36: 2335–2341. doi:10.1016/j.jas.2009.06.016.
4. ^ Pabst, M.; Letofsky-Papst, I.; Moser, M.; Spindler, K; Bock, E.; Wilhelm, P.; Dorfer, L.; Geigl, J.; Auer, M.; Speicher, M.; Hofer, F. (2010). "Different staining substances were used in decorative and therapeutic tattoos in a 1000-year-old Peruvian mummy". Journal of Archaeological Science. 37: 3256–3262. doi:10.1016/j.jas.2010.07.026.
5. ^ Wood-Black, Frankie. "Going Skin Deep: The Culture and Chemistry of Tattoos". InChemistry. American Chemical Society. Retrieved 1 February 2018.
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* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Soot tattoo | None | 29,439 | wikipedia | https://en.wikipedia.org/wiki/Soot_tattoo | 2021-01-18T18:52:47 | {"wikidata": ["Q7562765"]} |
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they may include purplish discolored skin (purpura), weakness, joint pain, liver disease, and kidney problems. The underlying cause is unknown. Cryoglobulinemic vasculitis is typically associated with a chronic hepatitis C virus (HCV) infection. It is diagnosed based on the results of a clinical exam and the presence of cryoglobulins in the blood. Treatment varies based on the severity of symptoms and any underlying conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cryoglobulinemic vasculitis | c1852456 | 29,440 | gard | https://rarediseases.info.nih.gov/diseases/6386/cryoglobulinemic-vasculitis | 2021-01-18T18:01:01 | {"mesh": ["C565141"], "omim": ["123550"], "umls": ["C1852456"], "orphanet": ["91138"], "synonyms": ["Familial mixed cryoglobulinemia", "Mixed cryoglobulinemia", "Essential cryoglobulinemia", "Primary cryoglobulinemia", "Essential mixed cryoglobulinemia", "Meltzer syndrome"]} |
A number sign (#) is used with this entry because centronuclear myopathy-5 (CNM5) is caused by homozygous or compound heterozygous mutation in the SPEG gene (615950) on chromosome 2q35.
Description
Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).
For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150).
Clinical Features
Agrawal et al. (2014) reported 3 unrelated children with severe hypotonia since birth. The first child, born of consanguineous Turkish parents, died at age 3 weeks. She had respiratory insufficiency and required tube feeding. Other features included bilateral hip contractures, narrow and high-arched palate, microstomia, and retrognathia. Two older sibs had each died at 2 days of age. A 6-year-old girl in a second family presented at birth with severe hypotonia necessitating mechanical ventilation and tube feeding. She had severely delayed motor development and was unable to walk unsupported at age 6 years. At age 2 months, she showed cardiac abnormalities, including dilated left ventricle, systolic and diastolic dysfunction, and valvular insufficiency. Medical treatment was successful, and her cardiac function improved by 2.5 years of age. Other features included ophthalmoplegia, facial weakness, bifid uvula, high-arched palate, and retrognathia. A 19-month-old Turkish boy in a third family presented in the neonatal period with severe hypotonia, respiratory difficulty, and dilated cardiomyopathy. He showed delayed motor development, mild facial weakness, high-arched palate, and areflexia. An older sib had died of respiratory insufficiency at 40 days of age. None of the patients had increased serum creatine kinase. Skeletal muscle biopsies showed increased centralized nuclei in myofibers and myopathic changes.
Inheritance
The transmission pattern of centronuclear myopathy in the families reported by Agrawal et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 unrelated patients with centronuclear myopathy-5, Agrawal et al. (2014) identified homozygous or compound heterozygous mutations in the SPEG gene (615950.0001-615950.0005). The mutations were found by whole-exome sequencing. Four of the 5 mutations resulted in a truncated protein, and patient skeletal muscle showed decreased amounts of SPEG protein.
Animal Model
Liu et al. (2009) found expression of the alpha and beta Speg isoforms in the developing mouse heart. Speg-null mice developed dilated cardiomyopathy associated with a cellular hypertrophic response, myofibril degeneration, and a marked decrease in cardiac function. Speg-null mice also exhibited significant neonatal mortality, with an increased rate of death occurring by 2 days after birth.
Agrawal et al. (2014) found that muscle samples from Speg-null mice had increased frequency of centralized nuclei. The phenotype of Speg-null mice recapitulated that observed in humans with SPEG mutations.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial weakness \- Retrognathia \- Micrognathia Eyes \- Ophthalmoplegia Mouth \- High-arched palate \- Microstomia CARDIOVASCULAR Heart \- Dilated cardiomyopathy \- Valvular insufficiency RESPIRATORY \- Respiratory insufficiency, severe ABDOMEN Gastrointestinal \- Poor feeding due to muscle weakness SKELETAL Pelvis \- Hip contractures MUSCLE, SOFT TISSUES \- Hypotonia, severe, neonatal \- Axial muscle weakness \- Myopathic features seen on biopsy \- Increased centralized nuclei NEUROLOGIC Central Nervous System \- Delayed motor development Peripheral Nervous System \- Areflexia LABORATORY ABNORMALITIES \- Normal serum creatine kinase MISCELLANEOUS \- Onset in infancy \- Early death may occur \- Three unrelated patients have been reported (last curated September 2014) MOLECULAR BASIS \- Caused by mutation in the SPEG complex locus gene (SPEG, 615950.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MYOPATHY, CENTRONUCLEAR, 5 | c3645536 | 29,441 | omim | https://www.omim.org/entry/615959 | 2019-09-22T15:50:28 | {"doid": ["0111222"], "mesh": ["D020914"], "omim": ["615959"], "orphanet": ["169186"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is caused by homozygous mutation in the POGLUT1 gene (615618) on chromosome 3q13. One such family has been reported.
Description
Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy (summary by Servian-Morilla et al., 2016).
For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).
Nomenclature
At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2Z was renamed LGMDR21.
Clinical Features
Servian-Morilla et al. (2016) reported 4 adult sibs, born of consanguineous Spanish parents, with onset of proximal muscle weakness affecting the lower limbs in the third decade. The disease course was progressive and eventually involved the upper limbs, resulting in the patients becoming wheelchair-bound and showing scapular winging. The oldest patient showed impaired respiratory function in the fourth decade. Otherwise, none had facial or bulbar involvement, muscle hypertrophy, joint contractures, hyperlaxity, or scoliosis. None had dermatosis. Laboratory studies showed mildly increased serum creatine kinase. Skeletal muscle biopsy showed variable dystrophic and myopathic features. Muscle imaging showed progressive atrophy of the thigh muscles in an inside-out pattern,
Inheritance
The transmission pattern of limb-girdle muscular dystrophy in the family reported by Servian-Morilla et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 sibs, born of consanguineous Spanish parents, with autosomal recessive limb-girdle muscular dystrophy, Servian-Morilla et al. (2016) identified a homozygous missense mutation in the POGLUT1 (D233E; 615618.0006). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. In vitro functional expression studies in HEK293 cells showed that the mutant protein had decreased O-glucosyltransferase activity compared to wildtype. Transfection of the mutation into Drosophila Poglut1 mutants failed to rescue the defect in myoblast development and differentiation, indicating that the D233E mutation impairs the ability of POGLUT1 to promote muscle development. Patient skeletal muscle showed decreases in NOTCH1 (190198) activation and downstream signaling, including decreased expression of PAX7 (167410). Primary myoblasts derived from the patients showed decreased proliferation and self-renewal capacity and increased differentiation compared to controls; these defects could be restored by increasing Notch signaling. Patient muscle samples also had a dramatic reduction in the satellite cell pool and mild hypoglycosylation of alpha-DAG (DAG1; 128239), but this latter feature was not observed in fibroblasts; the authors concluded that DAG1 hypoglycosylation was not the primary disease mechanism. Rather, the findings suggested that the key pathomechanism for this form of LGMD was Notch-dependent loss of muscle satellite cells, impairing muscle regeneration and resulting in muscular dystrophy.
INHERITANCE \- Autosomal recessive RESPIRATORY \- Respiratory impairment (1 patient, late onset) CHEST Ribs Sternum Clavicles & Scapulae \- Scapular winging MUSCLE, SOFT TISSUES \- Muscle weakness, proximal, lower limbs (upper limb involvement occurs later) \- Muscle atrophy, proximal, lower limbs (upper limb involvement occurs later) \- Myopathic and dystrophic features seen on muscle biopsy \- Mild fiber size variation \- Rare centralized nuclei \- Reduced glycosylation of alpha-dystroglycan LABORATORY ABNORMALITIES \- Increased serum creatine kinase, mild MISCELLANEOUS \- Onset in early to mid-twenties \- Slowly progressive \- Patients may become wheelchair-bound \- One consanguineous family has been reported (last curated December 2016) MOLECULAR BASIS \- Caused by mutation in the protein O-glucosyltransferase 1 gene (POGLUT1, 615618.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 | c4310660 | 29,442 | omim | https://www.omim.org/entry/617232 | 2019-09-22T15:46:24 | {"omim": ["617232"], "orphanet": ["480682"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z", "LGMD2Z"]} |
Termination of pregnancy in states of the United States
Abortion in the United States is legal via the landmark 1973 case of Roe v. Wade. Specifically, abortion is legal in all U.S. states, and every state has at least one abortion clinic.[1][2] However, individual states can regulate/limit the use of abortion or create "trigger laws", which would make abortion illegal within the first and second trimesters if Roe were overturned by the Supreme Court of the United States[3][4][5] Also, nine states—Alabama, Arizona, Arkansas, Michigan, Mississippi, New Mexico, Oklahoma, West Virginia and Wisconsin still have their unenforced pre-Roe abortion bans on the lawbooks, which could start being enforced if Roe were overturned.[4] In accordance with the US Supreme Court case of Planned Parenthood v. Casey (1992), states cannot place legal restrictions posing an undue burden for "the purpose or effect of placing a substantial obstacle in the path of a woman seeking an abortion of a nonviable fetus."[6]
## Contents
* 1 Current legal status nationwide
* 2 State regulatory initiatives regarding abortion
* 2.1 Alabama
* 2.2 Alaska
* 2.3 Arizona
* 2.4 Arkansas
* 2.5 California
* 2.6 Colorado
* 2.7 Connecticut
* 2.8 Delaware
* 2.9 District of Columbia
* 2.10 Florida
* 2.11 Georgia
* 2.12 Hawaii
* 2.13 Idaho
* 2.14 Illinois
* 2.15 Indiana
* 2.16 Iowa
* 2.17 Kansas
* 2.18 Kentucky
* 2.19 Louisiana
* 2.20 Maine
* 2.21 Maryland
* 2.22 Massachusetts
* 2.23 Michigan
* 2.24 Minnesota
* 2.25 Mississippi
* 2.26 Missouri
* 2.27 Montana
* 2.28 Nebraska
* 2.29 Nevada
* 2.30 New Hampshire
* 2.31 New Jersey
* 2.32 New Mexico
* 2.33 New York
* 2.34 North Carolina
* 2.35 North Dakota
* 2.36 Ohio
* 2.37 Oklahoma
* 2.38 Oregon
* 2.39 Pennsylvania
* 2.40 Rhode Island
* 2.41 South Carolina
* 2.42 South Dakota
* 2.43 Tennessee
* 2.44 Texas
* 2.45 Utah
* 2.46 Vermont
* 2.47 Virginia
* 2.48 Washington
* 2.49 West Virginia
* 2.50 Wisconsin
* 2.51 Wyoming
* 3 State table
* 3.1 Bans of abortion
* 3.2 Limits on abortion
* 3.3 Protections of abortion
* 4 See also
* 5 References
* 6 External links
## Current legal status nationwide[edit]
Abortion laws in the US prior to Roe.
Illegal
Legal in case of rape
Legal in case of danger to woman’s health
Legal in case of danger to woman's health, rape or incest, or likely damaged fetus
Legal on request
Parental notification and consent laws in the US
Parental notification or consent not required
One parent must be informed beforehand1
Both parents must be informed beforehand
One parent must consent beforehand2
Both parents must consent beforehand
One parent must consent and be informed beforehand
Parental notification law currently enjoined
Parental consent law currently enjoined
1 Delaware's parental notification law only applies to minors under the age of 16
2 South Carolina's parental consent law only applies to minors under the age of 17
Mandatory waiting period laws in the US
No mandatory waiting period
Waiting period of less than 24 hours
Waiting period of 24 hours or more
Waiting period law currently enjoined
Abortion counseling laws in the US
No mandatory counseling
Counseling in person, by phone, mail, and/or other
Counseling in person only
Counseling law enjoined
Mandatory ultrasound laws in the US
Mandatory. Must display image.
Mandatory. Must offer to display image.
Mandatory. Law unenforceable.
Not mandatory. If ultrasound is performed, must offer to display image.
Not mandatory. Must offer ultrasound.
Not mandatory.
Fetal homicide laws in the fifty states. Also applies to certain offenses which the United States government has jurisdiction.
Homicide or murder.
Other crime against fetus.
Depends on age of fetus.
Assaulting mother.
No law on feticide.
The current judicial interpretation of the US Constitution regarding abortion in the United States, following the Supreme Court of the United States 1973 landmark decision in Roe v. Wade, and subsequent companion decisions, is that abortion is legal but may be restricted by the states to varying degrees. States have passed laws to restrict late term abortions, require parental notification for minors, and mandate the disclosure of abortion risk information to patients prior to the procedure.[7]
The key, deliberated article of the US Constitution is the Fourteenth Amendment, which states that:
> All persons born or naturalized in the United States, and subject to the jurisdiction thereof, are citizens of the United States and of the State wherein they reside. No State shall make or enforce any law which shall abridge the privileges or immunities of citizens of the United States; nor shall any State deprive any person of life, liberty, or property, without due process of law; nor deny to any person within its jurisdiction the equal protection of the laws.[8]
The official report of the US Senate Judiciary Committee, issued in 1983 after extensive hearings on the Human Life Amendment (proposed by Senators Orrin Hatch and Thomas Eagleton), stated:
> Thus, the [Judiciary] Committee observes that no significant legal barriers of any kind whatsoever exist today in the United States for a woman to obtain an abortion for any reason during any stage of her pregnancy.[9]
One aspect of the legal abortion regime now in place has been determining when the fetus is "viable" outside the womb as a measure of when the "life" of the fetus is its own (and therefore subject to being protected by the state). In the majority opinion delivered by the court in Roe v. Wade, viability was defined as "potentially able to live outside the woman's womb, albeit with artificial aid. Viability is usually placed at about seven months (28 weeks, approx. 196 days) but may occur earlier, even at 24 weeks." When the court ruled in 1973, the then-current medical technology suggested that viability could occur as early as 24 weeks. Advances over the past three decades have allowed fetuses that are a few weeks less than 24 weeks old to survive outside the woman's womb. These scientific achievements, while life-saving for premature babies, have made the determination of being "viable" somewhat more complicated. The youngest child thought to have survived a premature birth in the United States was Amillia Taylor (born on 24 October 2006 in Miami, Florida, at 21 weeks and 6 days gestational age, approx. 153 days vs. possibly expected gestational period of 40 weeks, approx. 280 days).[10]
In comparison to other developed countries, the procedure is more available in the United States in terms of how late the abortion can legally be performed. However, in terms of other aspects such as government funding, privacy for non-adults, or geographical access, some US states are far more restrictive. In most European countries abortion on-demand is allowed only during the first trimester, with abortions during later stages of pregnancy being allowed only for specific reasons (e.g. physical or mental health reasons, risk of birth defects, if the woman was raped etc.). The reasons that can be invoked by a woman seeking an abortion after the first trimester vary by country, for instance, some countries, such as Denmark, provide a wide range of reasons, including social and economic ones.[11]
There are no laws or restrictions regulating abortion in Canada, while the law on abortion in Australia varies by state/territory. In many countries the right to abortion has been legalized by respective parliaments, while in the US the right to abortion has been deemed a part of a constitutional right to privacy by the Supreme Court.
Because of the split between federal and state law, legal access to abortion continues to vary somewhat by state. Geographic availability, however, varies dramatically, with 87 percent of US counties having no abortion provider.[12] Moreover, due to the Hyde Amendment, many state health programs which poor women rely on for their health care do not cover abortions; currently only 17 states (including California, Illinois and New York) offer or require such coverage.[13]
The 1992 case of Planned Parenthood v. Casey overturned Roe's strict trimester formula, but reemphasized the right to abortion as grounded in the general sense of liberty and privacy protected under the Due Process Clause of the Fourteenth Amendment to the United States Constitution: "If the right of privacy means anything, it is the right of the individual, married or single, to be free from unwarranted governmental intrusion into matters so fundamentally affecting a person as the decision whether to bear or beget a child." Advancements in medical technology meant that a fetus might be considered viable, and thus have some basis of a right to life, at 22 or 23 weeks rather than at the 28 that was more common at the time Roe was decided. For this reason, the old trimester formula was ruled obsolete, with a new focus on viability of the fetus.
Since 1995, led by Congressional Republicans, the US House of Representatives and US Senate have moved several times to pass measures banning the procedure of intact dilation and extraction, also commonly known as partial birth abortion. After several long and emotional debates on the issue, such measures passed twice by wide margins, but President Bill Clinton vetoed those bills in April 1996 and October 1997 on the grounds that they did not include health exceptions. Congressional supporters of the bill argue that a health exception would render the bill unenforceable, since the Doe v. Bolton decision defined "health" in vague terms, justifying any motive for obtaining an abortion. Subsequent Congressional attempts at overriding the veto were unsuccessful.
On October 2, 2003, with a vote of 281–142, the House again approved a measure banning the procedure, called the Partial-Birth Abortion Ban Act. Through this legislation, a doctor could face up to two years in prison and face civil lawsuits for performing such an abortion. A woman who undergoes the procedure cannot be prosecuted under the measure. The measure contains an exemption to allow the procedure if the woman's life is threatened.
On October 21, 2003, the United States Senate passed the same bill by a vote of 64–34, with a number of Democrats joining in support. The bill was signed by President George W. Bush on November 5, 2003, but a federal judge blocked its enforcement in several states just a few hours after it became public law. The Supreme Court upheld the nationwide ban on the procedure in the case Gonzales v. Carhart on April 18, 2007. The 5-4 ruling said the Partial-Birth Abortion Ban Act does not conflict with previous Court decisions regarding abortion.
The decision marked the first time the court allowed a ban on any type of abortion since 1973. The swing vote, which came from moderate justice Anthony Kennedy, was joined by Justices Antonin Scalia, Clarence Thomas, and the two recent appointees, Samuel Alito and Chief Justice John Roberts.
## State regulatory initiatives regarding abortion[edit]
States with trigger laws or pre-Roe bans on abortion that would make abortion illegal in the state if Roe v. Wade were overturned[citation needed]
The following states have or had initiatives regarding abortion. The fetal heartbeat bill legislative approach has picked up momentum in 2018 and 2019.
### Alabama[edit]
Main article: Abortion in Alabama
House Bill 490 prohibiting abortions once a heartbeat is detected passed the Lower House (73-29) on March 4, 2014. Alabama was the first state to pass such a bill.[14] The bill later died in committee.[15]
On April 2, 2019, House Bill 314, also known as the Human Life Protection Act, which bans abortions at every stage of pregnancy and criminalizes the procedure for doctors (except in the case of medical emergency), was introduced into the Lower House. The bill passed the Lower House on April 30 (74-3),[16] the Senate on May 14,[17] and was signed into law by Governor Kay Ivey on May 16.[18]
### Alaska[edit]
Main article: Abortion in Alaska
### Arizona[edit]
Main article: Abortion in Arizona
### Arkansas[edit]
Main article: Abortion in Arkansas
### California[edit]
Main article: Abortion in California
### Colorado[edit]
Main articles: Colorado Amendment 48 (2008) and Abortion in Colorado
The initiative was proposed jointly by Kristine Burton and Michael Burton[19] of Colorado for Equal Rights.[20] Colorado Amendment 48 was a proposed initiative to amend the definition of a person to "any human being from the moment of fertilization." On November 4, 2008, the initiative was turned down by 73.2 percent of the voters.[21]
### Connecticut[edit]
Main article: Abortion in Connecticut
### Delaware[edit]
Main article: Abortion in Delaware
### District of Columbia[edit]
Main article: Abortion in the District of Columbia
The District of Columbia has no law with respect to abortion. The previous statute making abortion a criminal offense was repealed in 2004. The consequence of this repeal is that abortion is completely unregulated in the District throughout the period of pregnancy.
### Florida[edit]
Main article: Abortion in Florida
### Georgia[edit]
Main article: Abortion in Georgia (U.S. state)
Georgia passed an abortion law on May 7, 2019[update] which prohibits abortions after a fetal heartbeat is detected; usually when a woman is six weeks pregnant. The law makes no exception for cases of rape or incest.[22] The constitutionality of the law was challenged by the American Civil Liberties Union, Planned Parenthood, and the Center for Reproductive Rights. In October 2019, the federal judge overseeing the case blocked enforcement of the ban, which was to take effect in January 2020, stating that the plaintiffs have shown a likelihood of winning the case.[23]
### Hawaii[edit]
Main article: Abortion in Hawaii
### Idaho[edit]
Main article: Abortion in Idaho
### Illinois[edit]
Main article: Abortion in Illinois
### Indiana[edit]
Main article: Abortion in Indiana
### Iowa[edit]
Main article: Abortion in Iowa
As of April 2020, abortion was legal in Iowa. On March 26, 2020, Governor Kim Reynolds expanded upon previous COVID-19 disaster proclamations to halt elective and non-essential surgeries.[24] The following day her office asserted: "[The] Proclamation suspends all nonessential or elective surgeries and procedures until April 16th, that includes surgical abortion procedures".[25]
### Kansas[edit]
Main article: Abortion in Kansas
Kansas lawmakers approved sweeping anti-abortion legislation (HB 2253) on April 6, 2013 that says life begins at fertilization, forbids abortion based on gender and bans Planned Parenthood from providing sex education in schools.[26]
In 2015 Kansas became the first state to ban the dilation and evacuation procedure, a common second-trimester abortion procedure.[27] But the new law was later struck down by the Kansas Court of Appeals in January 2016 without ever having gone into effect.[28] In April 2019, the Kansas Supreme Court affirmed the lower court's decision, and ruled that the right to abortion is inherent within the state's constitution and bill of rights, such that even if Roe v. Wade is overturned and the federal protection of abortion rights is withdrawn, the right would still be allowed within Kansas, barring a change in the state constitution.[29]
### Kentucky[edit]
Main article: Abortion in Kentucky
### Louisiana[edit]
Main article: Abortion in Louisiana
On June 19, 2006, Governor Kathleen Blanco signed into law a trigger ban on most forms of abortion (unless the life of the mother was in danger or her health would be permanently damaged) once it passed the state legislature. Although she felt exclusions for rape or incest would have "been reasonable," she felt she should not veto based on those reasons. The trigger law would only go into effect if the United States Supreme Court reversed Roe v. Wade. Louisiana's measure would allow the prosecution of any person who performed or aided in an abortion. The penalties include up to 10 years in prison and a maximum fine of $100,000.[30]
A second law, Act 620, passed in 2014, modeled after one passed earlier in Texas, required that any doctor performing abortions also have admittance privileges at an authorized hospital within a 30-mile radius of the abortion clinic, among other new requirements. At the time the law was passed, only one doctor had this privileges, effectively leaving only one legal abortion clinic in the state.[31] Ultimately, the model Texas law was declared unconstitutional by the Supreme Court in Whole Woman's Health v. Hellerstedt in 2016, as the additional admitting privileges required by Texas law interfered with a woman's right to an abortion per Roe v. Wade.[32] While the Texas law was being challenged, the Louisiana law was challenged by abortion clinics and doctors in the state in June Medical Services, LLC v. Gee; while the District Court ordered an injunction on the law, the Fifth Circuit Appeals Court reversed this decision, allowing the law to come in effect later in 2014. The plaintiffs petitioned the Supreme Court, who granted an emergency stay of the Fifth Circuit's order, pending the result of the pending Texas litigation in Whole Woman's Health. June Medical Services was remanded back to District Court, which found the law unconstitutional under Whole Woman's Health. The Fifth Circuit reversed the District's finding and prepared to allow the law to come back into effect by February 4, 2019, differentiating the case from the Texas one as they found the physician had not taken any steps to try to qualify for this allowance. The plaintiffs again petitioned the Supreme Court for an emergency stay of the Fifth Circuit's decision.[33] Justice Samuel Alito granted the stay of the law until February 7, 2019, stating that the Court needed more time to evaluate the request and had made no merits on the ruling of the case.[34] Subsequently, on February 7, 2019, the Supreme Court ruled 5–4, with Justice John Roberts joining the liberal Justices, in reversing the Firth Circuit's order, effectively preventing the law from going into effect.[35]
### Maine[edit]
Main article: Abortion in Maine
### Maryland[edit]
Main article: Abortion in Maryland
### Massachusetts[edit]
Main article: Abortion in Massachusetts
### Michigan[edit]
Main article: Abortion in Michigan
### Minnesota[edit]
Main article: Abortion in Minnesota
### Mississippi[edit]
Main article: Abortion in Mississippi
On February 27, 2006, Mississippi's House Public Health Committee voted to approve a ban on abortion, but that bill died after the House and Senate failed to agree on compromise legislation.[36]
On November 8, 2011, the Personhood amendment, to define personhood as beginning "at the moment of fertilization, cloning, or the functional equivalent thereof," was rejected by 55 percent of voters.[37]
On March 20, 2018, a federal district court in Mississippi enacted a temporary, 10-day ban of the enforcement of a new state law that prohibits the performance of an abortion once the gestational age of the fetus is greater than 15 weeks.[38][39][22]
### Missouri[edit]
Main article: Abortion in Missouri
### Montana[edit]
Main article: Abortion in Montana
### Nebraska[edit]
Main article: Abortion in Nebraska
### Nevada[edit]
Main article: Abortion in Nevada
### New Hampshire[edit]
Main article: Abortion in New Hampshire
### New Jersey[edit]
Main article: Abortion in New Jersey
### New Mexico[edit]
Main article: Abortion in New Mexico
### New York[edit]
Main article: Abortion in New York
### North Carolina[edit]
Main article: Abortion in North Carolina
### North Dakota[edit]
Main article: Abortion in North Dakota
### Ohio[edit]
Main article: Abortion in Ohio
An Ohio state law passed in April 2019 will make abortion illegal after the fetus's heartbeat can be detected, usually between five or six weeks into the pregnancy. No exceptions for cases of rape or incest are made in the law, which is slated to go into effect in July.[22]
### Oklahoma[edit]
Main article: Abortion in Oklahoma
In 2016, Oklahoma state legislators passed a bill to criminalize abortion for providers, potentially charging them with up to three years in prison.[40] On May 20, 2016, Governor Mary Fallin vetoed the bill before it could become law, citing its wording as too vague to withstand a legal challenge.[41]
### Oregon[edit]
Main article: Abortion in Oregon
### Pennsylvania[edit]
Main article: Abortion in Pennsylvania
### Rhode Island[edit]
Main article: Abortion in Rhode Island
### South Carolina[edit]
Main article: Abortion in South Carolina
### South Dakota[edit]
Main article: Abortion in South Dakota
Main article: Women's Health and Human Life Protection Act
In 2004, a bill outlawing abortion passed both houses of the legislature, but was vetoed by the Governor due to a technicality. The state's legislature subsequently passed five laws curtailing the legality of abortion in 2005.[42] The majority of a legislative "task force"[43] then issued a report recommending that the Legislature illegalize all abortions, which would lead to a challenge of the constitutionality of Roe v. Wade in the United States Supreme Court. A separate minority report criticizing the process and reaching different conclusions was also released.[44]
In February 2006, the Legislature passed the Women's Health and Human Life Protection Act, which was signed into law by Governor Mike Rounds on March 6, 2006. This law would have forbidden abortion under virtually every circumstance, including in cases of rape and incest. The law allowed "a medical procedure designed or intended to prevent the death of a pregnant mother." Physicians performing such procedures would have been required to "...make reasonable medical efforts under the circumstances to preserve both the life of the mother and the life of her unborn child."
The act had specifically defined pregnancy as beginning at the point of conception rather than at implantation into the uterine wall (see beginning of pregnancy controversy), which might have meant that WHHLPA applied to emergency contraception and possibly all forms of hormonal contraception.
A referendum to repeal the Women's Health and Human Life Protection Act was placed on ballot for the November 2006 statewide election due to a successful petition drive by the organization South Dakota Healthy Families. On May 30, over 38,000 petition signatures were filed, more than twice the 17,000 required to place a measure on the ballot. On November 7, WHHLPA was repealed by the South Dakota electorate; the vote was 56%-44% favoring repeal.[45]
### Tennessee[edit]
Main article: Abortion in Tennessee
### Texas[edit]
Main article: Abortion in Texas
Abortion access in Texas.
The Roe v. Wade case, tried in Texas, stands at the center of years of national debate about the issue of abortion.[46] Henry Wade was serving as District Attorney of Dallas County at the time.
On August 29, 2014 US District Judge Lee Yeakel struck down as unconstitutional two provisions of Texas' omnibus anti-abortion bill, House Bill 2 that was to come into effect on September 1. The regulation would have closed about a dozen abortion clinics, leaving only eight places in Texas to get a legal abortion, all located in major cities. Judge Lee Yeakel ruled that the state's regulation was unconstitutional and would have placed an undue burden on women, particularly on poor and rural women living in west Texas and the Rio Grande Valley.[47] The legal challenge to the law eventually reached the Supreme Court in Whole Woman's Health v. Hellerstedt (2016) which ruled that the law was unconstitutional, its burden of requiring abortion doctors to have admission privileges at a local hospital within 30 miles of the center to interfere with a woman's right to an abortion from Roe v. Wade.
### Utah[edit]
Main article: Abortion in Utah
### Vermont[edit]
Main article: Abortion in Vermont
### Virginia[edit]
Main article: Abortion in Virginia
### Washington[edit]
Main article: Abortion in Washington
### West Virginia[edit]
Main article: Abortion in West Virginia
### Wisconsin[edit]
Main article: Abortion in Wisconsin
In 2013, Act 37 was passed into law, necessitating admitting privileges for all abortion providers within the state. Admitting privileges allow physicians the right to directly admit a patient to a nearby hospital. The state maintained this was necessary for women's health and safety, however, public health officials and the medical community - including the American College of Gynecologists and Obstetricians, Wisconsin Medical Society, and American Public Health Association \- oppose these requirements as unnecessary and are not grounded in evidence-based practice.[48] Not only are these privileges difficult for abortion physicians to obtain given the controversial nature of abortion, the Wisconsin law required admitting privileges to be obtained within one day of the law's passage. After Governor Walker signed the bill into law, a federal district court judge in the Western District of Wisconsin immediately granted a preliminary injunction, preventing its implementation. A trial was held, and the court imposed a permanent injunction against the law, with the Judge noting that clinic closure was clearly the purpose of the law as there was only one day granted for physicians to obtain compliance. Further, the ruling found that abortion complications "are rare and are rarely dangerous", thus it seems to undermine the argument that this law is needed for women's health and safety.[49]
The case was appealed by the state's attorney, yet the US Seventh Circuit Court of Appeals upheld the earlier ruling, and the permanent injunction. The appeals court declared, as did the trial court judge, that the state had failed to demonstrate any obvious need for this legislation.[50] The state further appealed to the Supreme Court, however, this appeal was rejected, maintaining the permanent injunction of the law. The rejection by the Supreme Court to hear the case came rather quickly after the ruling in the state of Texas' case also involving admitting privileges. The Supreme Court's ruling in Whole Women's Health v. Hellerstedt found that the admitting privileges requirement created an undue burden for women, and thus interfered with the rights established in Roe v. Wade.
### Wyoming[edit]
Main article: Abortion in Wyoming
## State table[edit]
### Bans of abortion[edit]
State Current legality Status before "Roe" Current status
Legal status in 2020 Completely illegal Illegal with limits Trigger law on any abortion Trigger law on late term abortion
Alabama legal Yes Yes* Yes Yes
Alaska legal No No Yes Yes
Arizona legal Yes Yes* Yes Yes
Arkansas legal Yes Yes* No Yes
California legal No Yes* No No
Colorado legal No Yes* Yes No
Connecticut legal No No No No
Delaware legal No Yes No No
Florida legal No Yes* No Yes
Georgia legal No Yes* No No
Hawaii legal No No No No
Idaho legal Yes No No Yes
Illinois legal Yes No No[51] No[51]
Indiana legal Yes No No Yes
Iowa legal Yes No No Yes
Kansas legal Yes No No Yes
Kentucky legal Yes No No Yes
Louisiana legal Yes No Yes Yes
Maine legal No No No No
Maryland legal No Yes* No No
Massachusetts legal No Yes* No No
Michigan legal Yes No No Yes
Minnesota legal Yes No No No
Mississippi legal No Yes* No Yes
Missouri legal Yes No Yes Yes
Montana legal Yes No No No
Nebraska legal Yes No No Yes
Nevada legal Yes No No No
New Hampshire legal Yes No No No
New Jersey legal Yes No No Yes
New Mexico legal No Yes* No No
New York legal No No No No
North Carolina legal No Yes* No No
North Dakota legal Yes No No Yes
Ohio legal Yes No Yes Yes
Oklahoma legal Yes No Yes Yes
Oregon legal No Yes* No No
Pennsylvania legal Yes No No No
Rhode Island legal Yes No No Yes
South Carolina legal No Yes* No Yes
South Dakota legal Yes No No Yes
Tennessee legal Yes No Yes Yes
Texas legal Yes No No No
Utah legal Yes No Yes Yes
Vermont legal Yes No No No
Virginia legal No Yes* Yes Yes
Washington legal No No No No
West Virginia legal Yes No No Yes
Wisconsin legal Yes No No Yes
Wyoming legal Yes No No No
### Limits on abortion[edit]
State Time limit without exceptions[52] Waiting period Mandatory ultrasound[53] Counseling % of counties without provider [54] Parental Notification for Minors Parental Consent for Minors[55]
Alabama^ Yes Yes Yes 59% No One
Alaska None None No Yes 37% No No
Arizona^ Viability Yes 24 hours Yes 19% No One
Arkansas^ 20 weeks Yes No Yes 77% No One
California^ Viability None No None 5% No No
Colorado^ None None No None 27% Yes[56] No
Connecticut Viability None No None 5% No No
Delaware Viability None No Yes 33% Yes No
Florida^ 24 weeks None Yes None 20% Yes No
Georgia^ Yes No Yes 58% Yes No
Hawaii Viability None No None 5% No No
Idaho Viability Yes No Yes 68% No One [57]
Illinois Viability None No None 40% Yes No
Indiana 20 weeks Yes No Yes 66% No One
Iowa 20 weeks None No None 42% Yes No
Kansas 20 weeks Yes Yes Yes 56% No One
Kentucky Yes Yes Yes 74% No One
Louisiana 20 weeks Yes 24 hours[58] Yes 63% No One
Maine Viability None No None 55% No No
Maryland^ Viability None No None 24% Yes No
Massachusetts^ 24 weeks None No Yes 14% No One
Michigan Viability Yes No Yes 40% No One
Minnesota Viability Yes No Yes 59% Yes No
Mississippi^ 20 weeks Yes Yes Yes 91% No Both
Missouri Viability Yes No Yes 94% No Both
Montana Viability None No None 55% No No
Nebraska 20 weeks Yes No Yes 41% No One
Nevada 24 weeks None No None 9% No No
New Hampshire None None No None 30% Yes No
New Jersey None None No None 23% No No
New Mexico^ None None No None 48% No No
New York Viability or 24 weeks[59] None No None 10% No No
North Carolina^ 20 weeks None No None 53% No One
North Dakota 20 weeks Yes No Yes 73% Yes Both
Ohio Viability Yes No Yes 56% No One
Oklahoma 20 weeks Yes No Yes 54% Yes One
Oregon^ None None No None 30% No No
Pennsylvania 24 weeks Yes No Yes 48% No One
Rhode Island 24 weeks None No Yes 36% No One
South Carolina^ 20 weeks Yes No Yes 71% No One
South Dakota 20 weeks None No None 77% Yes No
Tennessee Viability None No None 63% No One
Texas 20 weeks Yes 24 hours Yes 43% Yes One
Utah Viability Yes No Yes 62% Yes One
Vermont None None No None 38% No No
Virginia^ 25 weeks Yes 24 hours Yes 78% Yes One
Washington Viability None No None 15% No No
West Virginia 20 weeks Yes No Yes 90% Yes No
Wisconsin 20 weeks Yes 24 hours[60] Yes 67% No One
Wyoming Viability None No None 96% Yes One
### Protections of abortion[edit]
State Freedom Act[61] State constitutional protection[62]
Alabama No No
Alaska No Yes
Arizona No Yes
Arkansas No No
California Yes Yes
Colorado No No
Connecticut Yes Yes
Delaware Yes No
Florida No Yes
Georgia No No
Hawaii Yes No
Idaho No No
Illinois Yes Yes
Indiana No Yes
Iowa No No
Kansas No Yes
Kentucky No No
Louisiana No No
Maine Yes No
Maryland Yes No
Massachusetts No Yes
Michigan No No
Minnesota No Yes
Mississippi No No
Missouri No No
Montana No Yes
Nebraska No No
Nevada Yes No
New Hampshire No No
New Jersey No Yes
New Mexico No Yes
New York Yes[63][64] No
North Carolina No No
North Dakota No No
Ohio No No
Oklahoma No No
Oregon No Yes
Pennsylvania No No
Rhode Island Yes No
South Carolina No No
South Dakota No No
Tennessee No No[65]
Texas No No
Utah No No
Vermont Yes Yes
Virginia No No
Washington Yes No
West Virginia No No
Wisconsin No No
Wyoming No No
## See also[edit]
* Abortion statistics in the United States
* Abortion by country
* Abortion and religion
* Abortion debate
* Heartbeat bill
* Types of abortion restrictions in the United States
## References[edit]
1. ^ "Using Abortion Pills for Safe Abortion in the USA. Abortion is illegal in Alabama and Georgia. Self-Managed Abortion; Safe and Supported (SASS).—Women Help Women Consultation". Consult.womenhelp.org. 2017-01-12. Retrieved 2017-07-21.
2. ^ Politics (2017-02-10). "Here's how many abortion clinics are in each state". Business Insider. Retrieved 2017-07-21.
3. ^ What if Roe Fell?, Center for Reproductive Rights (February 21, 2019).
4. ^ a b Abortion Policy in the Absence of Roe, Guttmacher Institute (May 1, 2019).
5. ^ Abortion would automatically be illegal in these states if Roe v. Wade is overturned, CBS News (April 22, 2018).
6. ^ Casey, 505 U.S. 833 (1992) at 877.
7. ^ Interactive maps comparing US abortion restrictions by state, LawServer
8. ^ "The Constitution of the United States of America: As Amended" (PDF). 2007-07-25. Retrieved 2009-02-17.
9. ^ Report, Committee on the Judiciary, U.S. Senate, on Senate Joint Resolution 3, 98th Congress", 98–149, June 7, 1983, p. 6.
10. ^ "Most-premature baby allowed home". BBC News. 2007-02-21. Retrieved 2007-05-05.
11. ^ "DENMARK". cyber.harvard.edu.
12. ^ "Access to Abortion" (PDF). National Abortion Federation. 2003. Archived (PDF) from the original on 19 June 2007. Retrieved 2007-06-17.
13. ^ ""Public Funding for Abortion" (map)" (PDF).
14. ^ "Alabama lawmakers weigh strict 'fetal heartbeat' abortion ban". Reuters. March 4, 2014. Retrieved September 20, 2014.
15. ^ Cason, Mike (April 6, 2014). "Bills that passed and died during the Alabama Legislature's 2014 session". Al.com. Retrieved September 20, 2014.
16. ^ "Alabama HB314 | 2019 | Regular Session". LegiScan. Retrieved May 15, 2019.
17. ^ Williams, Timothy; Blinder, Alan (May 14, 2019). "Alabama Lawmakers Vote to Effectively Ban Abortion in the State". The New York Times. ISSN 0362-4331. Retrieved May 15, 2019.
18. ^ Ivey, Kay [@GovernorKayIvey] (15 May 2019). "Today, I signed into law the Alabama Human Life Protection Act. To the bill's many supporters, this legislation stands as a powerful testament to Alabamians' deeply held belief that every life is precious & that every life is a sacred gift from God" (Tweet). Retrieved 22 May 2019 – via Twitter.
19. ^ Statement of Sufficiency (pdf). Secretary of State. State of Colorado. May 29, 2008.
20. ^ Personhood Initiative '08. Colorado for Equal Rights.
21. ^ "48-Definition of Person - Results: Elections: The Denver Post". Denver Post Election Data.
22. ^ a b c Smith, Kate (May 13, 2019). "A pregnant 11-year-old rape victim in Ohio would no longer be allowed to have an abortion under new state law". CBS News. Retrieved May 14, 2019.
23. ^ Kelly, Caroline (October 1, 2019). "Federal judge blocks Georgia's controversial abortion ban". CNN. Retrieved October 1, 2019. "The law, House Bill 481, is one of the nation's most restrictive measures, outlawing the procedure as early as six weeks into pregnancy, when a fetal heartbeat is detected. That can come before many women know they're pregnant."
24. ^ Richardson, Ian. "Iowa orders additional retail closures, halts elective and nonessential surgeries and dental procedures". Des Moines Register. Retrieved 2020-03-28.
25. ^ Rodriguez, Barbara. "Governor's office says order suspending 'non-essential' surgery includes halting surgical abortions". Des Moines Register. Retrieved 2020-03-28.
26. ^ News, U. S. "Kansas lawmakers pass sweeping anti-abortion legislation". U.S. News.
27. ^ Kansas governor signs nation's 1st ban on abortion procedure - Yahoo News. News.yahoo.com (2015-04-07). Retrieved on 2015-04-12.
28. ^ Alter, Charlotte. "Kansas Court Strikes Down Second-Trimester Abortion Ban". TIME.com. Retrieved 2016-10-20.
29. ^ Margolies, Dan; Llopis-Jepsen, Celia (April 26, 2019). "Kansas Supreme Court Rules State Constitution Protects Right To Abortion". NPR. Retrieved April 26, 2019.
30. ^ Alford, Jeremy (June 7, 2006). "Louisiana Governor Plans to Sign Anti-Abortion Law". The New York Times. Retrieved April 23, 2010.
31. ^ Lane, Emily (12 June 2014). "Bobby Jindal signs anti-abortion bill Thursday likely to close clinics in Baton Rouge, New Orleans". nola.com.
32. ^ Savage, David G. "Supreme Court strengthens right to abortion, strikes down Texas restrictions on clinics". latimes.com.
33. ^ Higgins, Tucker (29 January 2019). "Eyes on Kavanaugh and Gorsuch as Supreme Court weighs whether Louisiana abortion law can go into effect". CNBC.
34. ^ de Vogue, Ariana (February 1, 2019). "Supreme Court blocks Louisiana abortion law from taking effect Monday". CNN. Retrieved February 1, 2019.
35. ^ de Vogue, Ariana (February 7, 2019). "Supreme Court blocks Louisiana abortion law from taking effect". CNN. Retrieved February 7, 2019.
36. ^ MacIntyre, Krystal. "Mississippi abortion ban bill fails as legislators miss deadline for compromise", Jurist News Archive (2006-03-28). Retrieved 2007-01-23.
37. ^ Curry, Tom. MSNBC.com ""Archived copy". Archived from the original on 2011-11-09. Retrieved 2011-11-09.CS1 maint: archived copy as title (link)". Retrieved 2011-11-9.
38. ^ Shimabukuro, Jon O. (April 10, 2018). Mississippi Court Halts Enforcement of New Abortion Law (PDF). Washington, DC: Congressional Research Service. Retrieved 18 April 2018.
39. ^ Ly, Laura. "Judge temporarily blocks 15-week abortion ban in Mississippi". CNN. Retrieved 2018-06-30.
40. ^ "Oklahoma lawmakers approve bill to revoke licenses of abortion doctors". Reuters. 2016-04-29. Retrieved 2016-05-19.
41. ^ "Gov. Fallin vetoes bill that would make performing an abortion a felony". KFOR.com. 2016-05-20. Retrieved 2016-05-20.
42. ^ S.D. Makes Abortion Rare Through Laws And Stigma - washingtonpost.com
43. ^ "HB 1233 establish a task force to study abortion and to..." sdlegislature.gov.
44. ^ "April 17, 2006 | The Nation".
45. ^ "South Dakota Nixes Abortion Ban; Michigan Voters OK Anti-Affirmative Action Initiative - Politics | Republican Party | Democratic Party | Political Spectrum - F..."
46. ^ Sarah Weddington (11 February 2013). "Roe v Wade". The Handbook of Texas. Texas State Historical Association. Retrieved 19 April 2014.
47. ^ Feibel, Carrie. "Federal Judge Blocks Texas Restriction On Abortion Clinics". NPR. Retrieved 13 September 2014.
48. ^ "Opposition to Requirements for Hospital Admitting Privileges and Transfer Agreements for Abortion Providers". www.apha.org. Retrieved 2020-08-19.
49. ^ "Federal Appeals Court Strikes Down Wisconsin Abortion-related Restriction". WisBar. Retrieved 2020-08-19.
50. ^ "Appeals Court Upholds Decision Blocking Wisconsin Admitting Privileges Law". Rewire.News. Retrieved 2020-08-19.
51. ^ a b "Rauner pulls trigger: Signs bill to ensure abortion remains legal". Chicago Sun-Times. Retrieved 2018-10-07.
52. ^ "Where is abortion legal? Everywhere. But ..." USA Today. Retrieved 18 May 2019.
53. ^ "State Facts About Abortion".
54. ^ Abortion Incidence and Service Availability in the United States, 2017, Rachel K. Jones, Elizabeth Witwer and Jenna Jerman, Guttmacher Institute, 2019, Table 4, pp. 17-18
55. ^ "An Overview of Abortion Laws". Guttmacher Institute. 2016-03-09. Retrieved 2019-05-15.
56. ^ "Colorado :: NARAL Pro-Choice America".
57. ^ "Idaho :: NARAL Pro-Choice America"
58. ^ "Requirements for Ultrasound" (PDF).
59. ^ "New York State Senate Passes Bill Permitting Abortions up to Birth". 23 January 2019.
60. ^ Reilly, Mollie (June 14, 2013). "Wisconsin Mandatory Ultrasound Bill Passes State Assembly, Heads To Scott Walker's Desk". Huffington Post.
61. ^ "Map :: NARAL Pro-Choice America".
62. ^ "Map :: NARAL Pro-Choice America".
63. ^ Jones, Sarah (23 January 2019). "New York Has Finally Updated Its Archaic Abortion Law". Intelligencer.
64. ^ "New York Dems Flex Muscles, Pass Reproductive Health Act". 22 January 2019.
65. ^ Wadhwani, Anita. "Appeals court upholds vote count on Tennessee abortion measure Amendment 1". Retrieved 9 Jan 2018.
## External links[edit]
Legal
* Full Text of Roe v. Wade Decision
* Abortion Law at AOL
* Interactive maps comparing US abortion restrictions by state
* State Policies on Later-Term Abortions Guttmacher Institute
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Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
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* Maryland
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* Ohio
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* South Carolina
* South Dakota
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* Texas
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* Vermont
* Virginia
* Washington
* West Virginia
* Wisconsin
* Wyoming
Federal district
Washington, D.C.
Insular areas
* American Samoa
* Guam
* Northern Mariana Islands
* Puerto Rico
* U.S. Virgin Islands
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Abortion in the United States by state | None | 29,443 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_the_United_States_by_state | 2021-01-18T18:40:04 | {"wikidata": ["Q4668505"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-47 (RP47) is caused by homozygous mutation in the S-antigen gene (SAG; 181031) on chromosome 2q37.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Nakazawa et al. (1998) identified 3 unrelated patients with retinitis pigmentosa (RP47) who carried the same homozygous mutation in the SAG gene (181031.0001; see MOLECULAR GENETICS). Patient 1 had a sib with Oguchi disease (258100) associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of RP without the golden-yellow fundus reflex. Fluorescein angiography demonstrated partial chorioretinal atrophy particularly along the vascular arcade, with or without macular involvement, in all 3 patients. This region is the location in which partial chorioretinal atrophy preferentially occurs in patients with Oguchi disease.
Molecular Genetics
In a molecular genetic screening of exon 11 of the SAG gene in 120 unrelated patients with autosomal recessive retinitis pigmentosa, Nakazawa et al. (1998) identified a homozygous 1-bp deletion in 3 unrelated patients (1147delA; 181031.0001).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RETINITIS PIGMENTOSA 47 | c0035334 | 29,444 | omim | https://www.omim.org/entry/613758 | 2019-09-22T15:57:35 | {"doid": ["0110369"], "mesh": ["D012174"], "omim": ["613758"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant woolly hair (ADWH) is caused by heterozygous mutation in the KRT74 gene (608248) on chromosome 12q13.
Description
Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009).
See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair.
Clinical Features
Mohr (1932) reported a Norwegian kindred in which many members had hair that was short, tightly curled, and woolly, resembling the hair of black persons. Mohr (1932) considered black admixture very unlikely in this family. Gossage (1907) reported a family. Anderson (1936) and Schokking (1934) also reported Caucasian families with many affected. Anderson (1936), who had close familiarity with the hair of blacks, felt that the woolly hair was different.
Hutchinson et al. (1974) distinguished dominant and recessive forms. In the autosomal dominant trait, a variable degree of tight curling is present in all hairs throughout the scalp. In the autosomal recessive form, abnormal, tightly-curled, fine, white or blond hair tends to be short and is present from birth. A third type of woolly hair is the woolly hair nevus, in which the hair within a well-demarcated area is lighter than the normal hair and has a reduced diameter.
Mortimer (1985) discussed differential diagnosis of unruly hair.
Ormerod et al. (1987) described a family in which 6 members of 3 sibships and 2 generations, and presumably a seventh person in an earlier generation, showed an unusual form of woolly hair: normal and woolly hairs were intimately interspersed throughout the scalp. Twenty to 38% of the hairs were abnormal in the several family members.
Taylor (1990) described a family with 10 affected individuals in 4 generations with an instance of male-to-male transmission. The proposita had Coats disease of the eye (see 194300), which was, however, present in no other family members.
Shimomura et al. (2010) reported a 4-generation Pakistani family with woolly hair segregating as an autosomal dominant trait. Multiple affected family members displayed the clinical features at birth, with hair over the entire scalp region being coarse, lusterless, dry, and tightly curled, leading to a diffuse woolly hair phenotype with normal hair density. The hair grew slowly and stopped growing at a few inches. Under light microscopy, plucked hairs from affected individuals showed dystrophic anagen hairs, twisting, knot formation, and tapered distal ends. Eyebrows, eyelashes, and beard hairs appeared normal, and affected individuals had normal teeth, nails, and sweating, without palmoplantar hyperkeratosis (see 144200) or keratosis pilaris (604093).
Wasif et al. (2011) described a 4-generation consanguineous Pakistani family segregating autosomal dominant woolly hair. The hair was 2 to 3 inches long, tightly curled, twisted, and entangled. There were 10 affected individuals in the family, 9 of whom were alive.
Mapping
In a Pakistani family segregating autosomal dominant woolly hair, Shimomura et al. (2010) performed whole-genome linkage analysis and found suggestive linkage on chromosome 12. Haplotype and microsatellite analyses defined a 20.91-Mb linkage interval flanked by markers D12S1301 and D12S1610 on chromosome 12q13.
Molecular Genetics
In affected individuals of a Pakistani family segregating autosomal dominant woolly hair mapping to chromosome 12q13, Shimomura et al. (2010) identified heterozygosity for a missense mutation (608248.0001) in the KRT74 gene.
In 9 affected members of a consanguineous Pakistani family segregating autosomal dominant woolly hair, Wasif et al. (2011) identified a splice acceptor site mutation in the KRT74 gene (608248.0002). The mutation was not found in 7 unaffected family members or in 100 ethnically matched, unrelated control individuals.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Hair \- Tightly curled scalp hair \- Coarse hair \- Dry hair \- Slow-growing hair (growth stops at a few inches) \- Dystrophic anagen hairs \- Twisted hair shaft \- Knotted hairs \- Tapered distal end of hair MISCELLANEOUS \- Hair phenotype present at birth and involves entire scalp region MOLECULAR BASIS \- Caused by mutation in the keratin 74 gene (KRT74, 608248.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| WOOLLY HAIR, AUTOSOMAL DOMINANT | c0343073 | 29,445 | omim | https://www.omim.org/entry/194300 | 2019-09-22T16:31:45 | {"omim": ["194300"], "orphanet": ["170"]} |
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 16p11.2p12.2 microduplication syndrome | c4518821 | 29,446 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261204 | 2021-01-23T19:10:18 | {"icd-10": ["Q92.3"], "synonyms": ["Dup(16)(p11.2p12.2)", "Trisomy 16p11.2p12.2"]} |
Spaceflight osteopenia refers to the characteristic bone loss that occurs during spaceflight. Astronauts lose an average of more than 1% bone mass per month spent in space.[1] There is concern that during long-duration flights, excessive bone loss and the associated increase in serum calcium ion levels will interfere with execution of mission tasks and result in irreversible skeletal damage.[2]
## Contents
* 1 History
* 2 Cause
* 3 Countermeasures
* 4 See also
* 5 References
## History[edit]
Bone loss has been observed during spaceflight since at least as early as Gemini in the 1960s. Although most early measurements of the amount of bone loss were not reliable, they did show bone loss in Gemini, Soyuz 9, Apollo, Skylab, Salyut 7, Mir, and the International Space Station.[3] William E. Thornton, an astronaut and physician, was one of the biggest proponents of exercise as a way of preventing bone loss.[4]
## Cause[edit]
Bone remodels in response to stress in order to maintain constant strain energy per bone mass throughout.[5] To do this, it grows more dense in areas experiencing high stress, while resorbing density in areas experiencing low stress. On Mars, where gravity is about one-third that of earth, the gravitational forces acting on astronauts' bodies would be much lower, causing bones to decrease in mass and density.[6]
Average bone loss of 1–2% was recorded in astronauts on Mir each month.[2] This is in comparison to 1–1.5% bone loss in the elderly per year, and 2–3% in postmenopausal women.[7]
## Countermeasures[edit]
Astronaut Sunita "Suni" Williams bungeed to the TVIS treadmill aboard the International Space Station.
Since Gemini, exercise has been tried as a way of preventing bone loss, but it has not been shown to be successful. This may be in part due to lack of adequately designed studies (no controlled study had been done as of 2005, either in space or using bedrest as an attempt to simulate conditions which lead to bone loss). It is not known whether a different exercise regimen (perhaps including larger loads than past ones) would be effective.[4]
Increasing dietary calcium and vitamin D is a standard countermeasure for osteoporosis.[4] Clay is reportedly used by NASA for retaining calcium.[8]
A variety of drug remedies currently used or proposed for osteoporosis may work for spaceflight, including hormone therapy (estrogen or progestin), selective estrogen receptor modulators, bisphosphonates, teriparatide, and others. Whether they can provide the same benefits for spaceflight as they do for osteoporosis is not yet known.[4]
## See also[edit]
* Artificial gravity
* Effect of spaceflight on the human body
* Space medicine
* Space adaptation syndrome
* Microgravity University
* Reduced-gravity aircraft
* Timeline of longest spaceflights
## References[edit]
1. ^ Kelly, Scott (2017). Endurance: A Year in Space, a Lifetime of Discovery. With Margaret Lazarus Dean. Alfred A. Knopf, a division of Penguin Random House. p. 174. ISBN 9781524731595. "If I don't exercise six days a week for at least a couple of hours a day, my bones will lose significant mass - 1 percent each month ... Our bodies are smart about getting rid of what's not needed, and my body has started to notice that my bones are not needed in zero gravity."
2. ^ a b "Space Bones". NASA. October 1, 2001. Retrieved 2012-05-12.
3. ^ Dupzyk, Kevin (November 20, 2018). "What ISS Taught Us In the Past 20 Years". Popular Mechanics. "In space, astronauts lose bone density more quickly than they do on Earth. (In fact, all that extra calcium their bodies were flushing initially caused problems for the ISS’s water purification system.)"
4. ^ a b c d Peter R. Cavanagh; Angelo A. Licata & Andrea J. Rice (June 2005), "Exercise and pharmacological countermeasures for bone loss during long-duration space flight", Gravitational and Space Biology, 18 (2): 39–58, PMID 16038092
5. ^ Ali Marzban (January 1, 2008). "Different approaches of remodeling of bone to predict bone density distribution of proximal femur". Archived from the original on April 19, 2014. Retrieved 2013-02-23.
6. ^ "Trip to Mars Will Challenge Bones, Muscles: Former Astronaut calls for More NASA Research on Exercise in Space". American College of Sports Medicine. April 12, 2006. Retrieved 2013-02-23.
7. ^ "LOST IN SPACE: BONE DENSITY". NASA. Retrieved 2013-02-23.
8. ^ Ubick, Suzanne; Mud, Mud, Glorious Mud, The Magazine of the California Academy of Sciences, Apr. 3, 2008
* v
* t
* e
Space medicine
Main areas
* Artificial gravity
* Astronautical hygiene
* Bioastronautics
* Neuroscience in space
* Space exposure
* Space food
* Space nursing
* Space weather
* Weightlessness
Illness and injuries
* Asthenization
* Ebullism
* Illness and injuries during spaceflight
* Medical treatment during spaceflight
* Space adaptation syndrome
* Space and survival
* Spaceflight osteopenia
Organizations
* Aerospace Medical Association
* National Space Biomedical Research Institute
* Rubicon Foundation
* Space Nursing Society
Other topics
* Adverse health effects from lunar dust exposure
* Cardiac rhythm problems during space flight
* Central nervous system effects from radiation exposure during spaceflight
* Effect of spaceflight on the human body
* Effects of sleep deprivation in space
* Epidemiology data for low-linear energy transfer radiation
* Sleep in space
* Health threat from cosmic rays
* Intervertebral disc damage and spaceflight
* List of microorganisms tested in outer space
* Psychological and sociological effects of spaceflight
* Radiobiology evidence for protons and HZE nuclei
* Reduced muscle mass, strength and performance in space
* Renal stone formation in space
* Spaceflight radiation carcinogenesis
* Team composition and cohesion in spaceflight missions
* Visual impairment due to intracranial pressure
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Spaceflight osteopenia | None | 29,447 | wikipedia | https://en.wikipedia.org/wiki/Spaceflight_osteopenia | 2021-01-18T18:59:04 | {"wikidata": ["Q7572685"]} |
Sequelae following recovery from Ebola virus disease
Post-Ebola virus syndrome
Other namesPost Ebola syndrome
Ebola virus particles (blue) attacking a cell (yellow)
SpecialtyInfectious disease
SymptomsChest pain, fatigue, hearing loss[1]
CausesEVD
Diagnostic methodNeurological observation[2]
Post-Ebola virus syndrome (or post-Ebola syndrome) is a post-viral syndrome affecting those who have recovered from infection with Ebola.[3] Symptoms include joint and muscle pain, eye problems, including blindness, various neurological problems, and other ailments, sometimes so severe that the person is unable to work.[4] Although similar symptoms had been reported following previous outbreaks in the last 20 years, health professionals began using the term in 2014 when referring to a constellation of symptoms seen in people who had recovered from an acute attack of Ebola disease.[5]
## Contents
* 1 Signs and symptoms
* 2 Mechanism
* 2.1 Viral persistence
* 3 Diagnosis
* 4 Management
* 4.1 Follow-up
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Articles related to the
West African
Ebola virus epidemic
Overview
* Ebola virus disease
* Timeline of the epidemic
* Responses to the epidemic
* Timeline, tables and graphs
* Ebola virus disease treatment research
* Post-Ebola virus syndrome
* Ebola vaccine
Nations with widespread cases
* Guinea
* Liberia
* Sierra Leone
Other affected nations
* Mali
* Nigeria
* Senegal
* Spain
* United States
* United Kingdom
* Italy
Other outbreaks
* List of Ebola outbreaks
* 1976 Zaire outbreak
* 2014 DR Congo outbreak
* List of epidemics
* v
* t
* e
Researchers have been aware of a group of symptoms that frequently followed Ebola virus disease for 20 years, but it became more widely reported with the large number of survivors of the deadly epidemic in 2014.[3][6][7][8][2] Post Ebola syndrome may manifest as joint pain, muscle pain, chest pain, fatigue, hearing loss, hair loss, cessation of menstruation, and poor long term health. Some survivors report neurological issues including memory problems and anxiety attacks. Vision loss is also frequently reported, along with eye pain, inflammation, and blurred vision.[1] Two papers published in the New England Journal of Medicine in 2015 report that symptoms include lethargy, joint pains, hair loss, and vision loss, frequently to the point of near blindness, and uveitis.[9][10]
## Mechanism[edit]
Doctors put on protective gear before entering an Ebola treatment ward in Liberia, August 2014.
Although, there is some progress that may potentially help Ebola survivors, adequate funding and further research is required to help provide more answers about post-Ebola syndrome.[11]
Studies from previous outbreaks reveal that the virus is able to survive for months after recovery in some parts of the body such as the eyes and testes, where the immune system cannot reach. It is not known if the neurologic symptoms seen in survivors are a direct result of the virus or, instead, triggered by the immune system’s response to the infection. It is known that Ebola can trigger a massive cytokine storm that can cause bleeding throughout the body, including the brain, which may explain various neurological symptoms that have been reported.[12]
### Viral persistence[edit]
According to a review by Brainard, et al., Ebola virus was identified in almost 3 out of 4 seminal fluid samples (18 survivors) almost 4 months after initial infection, with the last positive samples being more than 6 months (203 days) after infection had occurred.[13] Another aspect of survivors of the Ebola virus, is that it could become sexually transmitted, as the virus is present in semen nine months after the individuals are declared free of Ebola.[14] A 2017 study found the virus in the semen of some men after more than two years following the recovery from the acute infection[15] and in one case, Ebola viral RNA was identified up to 40 months after illness.[16]
## Diagnosis[edit]
In terms of diagnosis, the individual may show sensitivity to light or eye redness when ocular problems are suspected. Neurologically the individual's coordination, gait and frontal release signs should be observed.[2]
## Management[edit]
Management depends on the symptoms displayed, for example, if the individual indicates muscular-skeletal pain then paracetamol may be administered. If the individual presents with ocular problems, then prednisone and cyclopentolate may be used for treatment, according to the WHO.[2]
### Follow-up[edit]
Researchers from the National Institute of Neurological Disorders and Stroke (NINDS) and Liberian research partners are doing a 5-year follow-up study of 1500 Ebola survivors in Liberia. Survivors will be evaluated every 6 months; as of October 2017 two follow-ups have been performed. Researchers will track relapses and viral persistence, characterize sequelae in various bodily systems, and do clinical studies on pharmacologic interventions and vaccines.[17]
PREVAIL III (Partnership for Research on Ebola Vaccines in Liberia III), a study of survivors and their contacts, a collaboration between NIAID and Liberia, was planned in late 2014.[18] Early results described abdominal, chest, neurologic, musculoskeletal, and ocular[19] challenges faced by survivors.[20]
## See also[edit]
* Ebola virus epidemic in West Africa
* List of Ebola outbreaks
## References[edit]
1. ^ a b Carod-Artal FJ (3 October 2015). "Post-Ebolavirus disease syndrome: what do we know?". Expert Review of Anti-Infective Therapy. 13 (10): 1185–7. doi:10.1586/14787210.2015.1079128. PMID 26293407.
2. ^ a b c d "Clinical care for survivors of Ebola virus disease" (PDF). WHO. World Health Organization. Retrieved 5 August 2016.
3. ^ a b Scott JT, Sesay FR, Massaquoi TA, Idriss BR, Sahr F, Semple MG (April 2016). "Post-Ebola Syndrome, Sierra Leone". Emerging Infectious Diseases. 22 (4): 641–6. doi:10.3201/eid2204.151302. PMC 4806950. PMID 26983037.
4. ^ Burki TK (July 2016). "Post-Ebola syndrome". The Lancet. Infectious Diseases. 16 (7): 780–781. doi:10.1016/S1473-3099(15)00259-5. PMID 27352759.
5. ^ Yasmin S. "Why Ebola Survivors Struggle with New Symptoms". Scientific American. Retrieved 2020-05-27.
6. ^ Neporent L (2014-09-03). "'Post-Ebola Syndrome' Persists After Virus Is Cured, Doctor Says". ABC news. Retrieved 12 May 2015.
7. ^ Farge E, Giahyue JH (2015-02-04). "Free from Ebola, survivors complain of new syndrome". Dakar, Monrovia. Reuters. Retrieved 12 May 2015.
8. ^ Grady D (2015-05-07). "After Nearly Claiming His Life, Ebola Lurked in a Doctor's Eye". The New York Times. Retrieved 12 May 2015.
9. ^ Varkey JB, Shantha JG, Crozier I, Kraft CS, Lyon GM, Mehta AK, et al. (June 2015). "Persistence of Ebola Virus in Ocular Fluid during Convalescence". The New England Journal of Medicine. 372 (25): 2423–7. doi:10.1056/NEJMoa1500306. hdl:2328/35704. PMC 4547451. PMID 25950269.
10. ^ Epstein L, Wong KK, Kallen AJ, Uyeki TM (December 2015). "Post-Ebola Signs and Symptoms in U.S. Survivors". The New England Journal of Medicine. 373 (25): 2484–6. doi:10.1056/NEJMc1506576. PMID 26672870.
11. ^ "Ebola survivors: What happens next?". Foundation for Biomedical Research. Archived from the original on 10 July 2015. Retrieved 8 July 2015.
12. ^ Clark DV, Kibuuka H, Millard M, Wakabi S, Lukwago L, Taylor A, et al. (August 2015). "Long-term sequelae after Ebola virus disease in Bundibugyo, Uganda: a retrospective cohort study". The Lancet. Infectious Diseases. 15 (8): 905–12. doi:10.1016/S1473-3099(15)70152-0. PMID 25910637. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
13. ^ Brainard J, Pond K, Hooper L, Edmunds K, Hunter P (February 2016). "Presence and Persistence of Ebola or Marburg Virus in Patients and Survivors: A Rapid Systematic Review". PLoS Neglected Tropical Diseases. 10 (2): e0004475. doi:10.1371/journal.pntd.0004475. PMC 4771830. PMID 26927697.
14. ^ "Preliminary study finds that Ebola virus fragments can persist in the semen of some survivors for at least nine months". WHO. World Health Organization. Archived from the original on 7 December 2016. Retrieved 5 August 2016.
15. ^ Fischer WA, Brown J, Wohl DA, Loftis AJ, Tozay S, Reeves E, et al. (2017). "Ebola Virus Ribonucleic Acid Detection in Semen More Than Two Years After Resolution of Acute Ebola Virus Infection". Open Forum Infectious Diseases. 4 (3): ofx155. doi:10.1093/ofid/ofx155. PMC 5897835. PMID 29670927.
16. ^ Sneller MC, Reilly C, Badio M, Bishop RJ, Eghrari AO, Moses SJ, et al. (March 2019). "A Longitudinal Study of Ebola Sequelae in Liberia". The New England Journal of Medicine. 380 (10): 924–934. doi:10.1056/NEJMoa1805435. PMC 6478393. PMID 30855742.
17. ^ Jagadesh S, Sevalie S, Fatoma R, Sesay F, Sahr F, Faragher B, et al. (January 2018). "Disability Among Ebola Survivors and Their Close Contacts in Sierra Leone: A Retrospective Case-Controlled Cohort Study". Clinical Infectious Diseases. 66 (1): 131–133. doi:10.1093/cid/cix705. PMC 5833946. PMID 29020205.
18. ^ Massaquoi MB, Kennedy SB, Tegli JK, Bolay FK, Kateh FN (April 2016). "Fostering collaboration on post-Ebola clinical research in Liberia". The Lancet. Global Health. 4 (4): e239. doi:10.1016/S2214-109X(15)00323-X. PMID 27013310.
19. ^ Eghrari AO, Bishop RJ, Ross RD, Davis B, Larbelee J, Amegashie F, et al. (January 2021). "Characterization of Ebola Virus-Associated Eye Disease". JAMA Network Open. 4 (1): e2032216. doi:10.1001/jamanetworkopen.2020.32216. PMID 33399856.
20. ^ Sneller MC, Reilly C, Badio M, Bishop RJ, Eghrari AO, Moses SJ, et al. (March 2019). "A Longitudinal Study of Ebola Sequelae in Liberia". The New England Journal of Medicine. 380 (10): 924–934. doi:10.1056/NEJMoa1805435. PMC 6478393. PMID 30855742.
## Further reading[edit]
* Jagadesh S, Sevalie S, Fatoma R, Sesay F, Sahr F, Faragher B, et al. (January 2018). "Disability Among Ebola Survivors and Their Close Contacts in Sierra Leone: A Retrospective Case-Controlled Cohort Study". Clinical Infectious Diseases. 66 (1): 131–133. doi:10.1093/cid/cix705. PMC 5833946. PMID 29020205.
* Carod-Artal FJ (March 2015). "[Illness due the Ebola virus: epidemiology and clinical manifestations within the context of an international public health emergency]". Revista De Neurologia. 60 (6): 267–77. PMID 25760722.
* Lyons J (2015). Ebola: An Evolving Story. World Scientific. ISBN 978-981-4675918.
* Blackley DJ, Wiley MR, Ladner JT, Fallah M, Lo T, Gilbert ML, et al. (April 2016). "Reduced evolutionary rate in reemerged Ebola virus transmission chains". Science Advances. 2 (4): e1600378. Bibcode:2016SciA....2E0378B. doi:10.1126/sciadv.1600378. PMC 4928956. PMID 27386513.
* Scott JT, Sesay FR, Massaquoi TA, Idriss BR, Sahr F, Semple MG (April 2016). "Post-Ebola Syndrome, Sierra Leone". Emerging Infectious Diseases. 22 (4): 641–6. doi:10.3201/eid2204.151302. PMC 4806950. PMID 26983037.
* Massaquoi MB, Kennedy SB, Tegli JK, Bolay FK, Kateh FN (April 2016). "Fostering collaboration on post-Ebola clinical research in Liberia". The Lancet. Global Health. 4 (4): e239. doi:10.1016/S2214-109X(15)00323-X. PMID 27013310.
* Jacobs M, Rodger A, Bell DJ, Bhagani S, Cropley I, Filipe A, et al. (July 2016). "Late Ebola virus relapse causing meningoencephalitis: a case report". Lancet. 388 (10043): 498–503. doi:10.1016/S0140-6736(16)30386-5. PMC 4967715. PMID 27209148.
* Shantha JG, Crozier I, Varkey JB, Kraft CS, Lyon GM, Mehta AK, et al. (December 2016). "Long-term Management of Panuveitis and Iris Heterochromia in an Ebola Survivor". Ophthalmology. 123 (12): 2626–2628.e2. doi:10.1016/j.ophtha.2016.07.013. PMC 5121070. PMID 27594198. Retrieved 7 September 2016.
* Reznik SE, Gardner EL, Ashby CR (November 2016). "Cannabidiol: a potential treatment for post Ebola syndrome?". International Journal of Infectious Diseases. 52: 74–76. doi:10.1016/j.ijid.2016.09.020. PMID 27686726. Retrieved 1 October 2016.
* Fischer WA, Brown J, Wohl DA, Loftis AJ, Tozay S, Reeves E, et al. (2017). "Ebola Virus Ribonucleic Acid Detection in Semen More Than Two Years After Resolution of Acute Ebola Virus Infection". Open Forum Infectious Diseases. 4 (3): ofx155. doi:10.1093/ofid/ofx155. PMC 5897835. PMID 29670927.
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*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
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*[CZE]: Czech Republic
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*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Post-Ebola virus syndrome | None | 29,448 | wikipedia | https://en.wikipedia.org/wiki/Post-Ebola_virus_syndrome | 2021-01-18T18:59:36 | {"wikidata": ["Q24975462"]} |
## Clinical Features
Fine and Lubinsky (1983) described a 2-year-old boy with psychomotor delay, brachycephaly, flat face, shallow orbits, hypertelorism, small mouth, cleft palate, cataract, deafness, rocker-bottom feet, and hypoplastic scrotum. Preus et al. (1984) studied a 23-month-old boy who exhibited developmental delay, sensorineural hearing loss, mild hypotonia, seizures, submucous cleft palate, and small nose, mouth, and ears. His nose also had a low root, flat bridge, and wide tip, and his ears were low set and posteriorly rotated with a thickened helix. Other features included unilateral cryptorchidism, tapered fingers with bilateral fifth-finger clinodactyly, and inverted left foot with prominent heel. Hand x-rays showed short metacarpals and phalanges of the second, third, and fourth digits, with the third digit most markedly foreshortened. Suthers et al. (1993) reported a 4-year-old boy with similar manifestations (without cleft palate) and abnormal chest (pectus carinatum superiorly and pectus excavatum inferiorly). The reported cases were sporadic.
Holder et al. (2007) reported an African American brother and sister with prominent frontal bones, flat facial profile, small nose, and developmental delay/mental retardation. Other anomalies included marked brachydactyly of fingers and toes, camptodactyly most severely affecting the second fingers, and hypoplastic/dystrophic nails. The boy also had craniosynostosis, microcephaly, shallow orbits, and poor dentition. The girl had sensorineural hearing loss, small mouth, thin upper lip, depressed nasal bridge, and low-set ears. Cytogenetic studies were normal.
Schoner et al. (2008) reported a female fetus at 24 weeks' gestation with Fine-Lubinsky syndrome. Prenatal ultrasound at 22 weeks' gestation showed polyhydramnios, growth retardation, and dysmorphic features including microcephaly, brachycephaly, extremely flat face, cataract, small nose, long philtrum, and microretrognathia, as well as rocker-bottom feet with syndactyly of the toes. Additional features seen on autopsy after elective termination of the pregnancy included narrow downslanting palpebral fissures, bilateral macrocornea, dorsally rotated simple ears, distinct microstomia with thin lips, Pierre-Robin anomaly with U-shaped cleft hard and soft palate, and glossoptosis. X-rays revealed shortening of the skull base, hypoplasia of the facial bones, short clavicles, bilateral costal defect, slender tubular bones, premature ossification centers in the tarsal bones, partial syndactyly of the right second to fourth toes, and deep-set, very short great toes. Schoner et al. (2008) tabulated the features of this patient as well as those of 6 previously reported patients with Fine-Lubinsky syndrome.
Corona-Rivera et al. (2009) reported a patient with Fine-Lubinsky syndrome and reviewed the clinical features of previously published patients. They identified key signs for diagnosis as nonsynostotic brachycephaly or plagiocephaly, structural brain anomalies, abnormal EEG, mental retardation, deafness, ocular abnormalities including cataracts or glaucoma, peculiar facies involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia, and body asymmetry.
Inheritance
Corona-Rivera et al. (2009) noted that all 9 reported patients with Fine-Lubinsky syndrome were sporadic cases born of healthy parents, with reportedly normal karyotypes. However, several of these patients were later found to have a different disorder (see 601088).
Molecular Genetics
### Exclusion Studies
Niceta et al. (2015) analyzed the MAF gene (177075) in the African American sibs previously reported by Holder et al. (2007) and in the female fetus described by Schoner et al. (2008) but did not find any mutations.
INHERITANCE \- Autosomal recessive GROWTH Other \- Growth retardation HEAD & NECK Head \- Brachycephaly Face \- Flat face \- Long philtrum (in some patients) Ears \- Hearing loss \- Low-set ears \- Posteriorly rotated ears \- Small ears (in some patients) \- Stenotic external auditory canals (in some patients) Eyes \- Shallow orbits \- Downslanting palpebral fissures (in some patients) \- Long eyelashes (in some patients) \- Megalocornea (in some patients) \- Cataracts (in some patients) \- Decreased vision (rare) \- Hypertelorism (rare) Nose \- Small nose \- Flat or depressed nasal bridge Mouth \- Small mouth \- Thin upper lip \- Cleft palate (in some patients) CHEST External Features \- Asymmetric thorax (in some patients) Ribs Sternum Clavicles & Scapulae \- Pectus carinatum and excavatum (rare) GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism (in some patients) \- Shawl scrotum (rare) SKELETAL Skull \- Brachycephaly Spine \- Scoliosis (in some patients) Hands \- Fifth-finger clinodactyly \- Brachydactyly \- Camptodactyly \- Tapered fingers Feet \- Prominent heels or rocker-bottom feet SKIN, NAILS, & HAIR Nails \- Abnormal nails NEUROLOGIC Central Nervous System \- Mental retardation \- Hypotonia \- Hydrocephaly or enlarged ventricles \- Cerebral atrophy \- Seizures \- Hypoplasia of corpus callosum (in some patients) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION | c0795941 | 29,449 | omim | https://www.omim.org/entry/601353 | 2019-09-22T16:14:59 | {"mesh": ["C537933"], "omim": ["601353"], "orphanet": ["1272"], "synonyms": ["Alternative titles", "FINE-LUBINSKY SYNDROME"]} |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | c3280692 | 29,450 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329332 | 2021-01-23T17:30:43 | {"omim": ["614407"], "synonyms": ["Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"]} |
A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PLIN1-related familial partial lipodystrophy | c3151268 | 29,451 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280356 | 2021-01-23T18:04:53 | {"gard": ["12601"], "omim": ["613877"], "icd-10": ["E88.1"], "synonyms": ["FPLD4", "PLIN1-related FPLD"]} |
-spermia,
Further information: Testicular infertility factors
* view
* talk
* edit
Aspermia —lack of semen; anejaculation
Asthenozoospermia —sperm motility below lower reference limit
Azoospermia —absence of sperm in the ejaculate
Hyperspermia —semen volume above higher reference limit
Hypospermia —semen volume below lower reference limit
Oligozoospermia —total sperm count below lower reference limit
Necrozoospermia—absence of living sperm in the ejaculate
Teratozoospermia —percent normal forms below lower reference limit
Hypospermia is a condition in which a man has an unusually low ejaculate (or semen) volume, less than 1.5 mL.[1] It is the logical opposite of hyperspermia. It should not be confused with oligospermia, which means low sperm count.
Normal ejaculate when a man is not drained from prior sex and is suitably aroused is around 1.5–6 mL, although this varies greatly with mood, physical condition and sexual activity. Of this, around 1% by volume is sperm cells. Hypospermia would only usually be a factor in infertility if the two conditions (hypospermia and oligospermia) are combined.[2] The U.S.-based National Institutes of Health defines hypospermia as a semen volume lower than 2 mL on at least two semen analyses.[3]
The presence of high levels of fructose (a sugar) is normal in the semen and this comes almost entirely from the seminal vesicles. The seminal vesicles, major contributors to ejaculate volume, render semen pH basic. Thus, low fructose may indicate problems in the prostatic pathway, while low semen pH may indicate problems related to the seminal vesicles. Obstruction of the seminal vesicles results in low semen volumes since they normally produce 70% of the seminal plasma.
## See also[edit]
* Aspermia
## References[edit]
1. ^ Padubidri; Daftary (2011). Shaw's Textbook of Gynaecology (15th ed.). p. 204. ISBN 978-81-312-2548-6.
2. ^ Doc shop Hypospermia
3. ^ Robin G, Marcelli F, Mitchell V, Marchetti C, Lemaitre L, Dewailly D, Leroy-Billiard M, Rigot JM (2008). "[Why and how to assess hypospermia?]". Gynecol Obstet Fertil. 36: 1035–42. doi:10.1016/j.gyobfe.2008.04.021. PMID 18801689.
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
* Seminal vesiculitis
External
Penis
* Balanoposthitis / Balanitis
* Balanitis plasmacellularis
* Pseudoepitheliomatous keratotic and micaceous balanitis
* Phimosis
* Paraphimosis
* Priapism
* Sexual dysfunction
* Erectile dysfunction
* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness syndrome
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypospermia | c1610638 | 29,452 | wikipedia | https://en.wikipedia.org/wiki/Hypospermia | 2021-01-18T18:34:58 | {"umls": ["C1610638"], "wikidata": ["Q11229233"]} |
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delay and eventual loss of developmental milestones, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia). Occasionally, high protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting.
In some affected individuals, signs and symptoms of arginase deficiency may be less severe, and may not appear until later in life.
## Frequency
Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.
## Causes
Mutations in the ARG1 gene cause arginase deficiency.
Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.
The ARG1 gene provides instructions for making an enzyme called arginase. This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.
### Learn more about the gene associated with Arginase deficiency
* ARG1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Arginase deficiency | c0268548 | 29,453 | medlineplus | https://medlineplus.gov/genetics/condition/arginase-deficiency/ | 2021-01-27T08:24:39 | {"gard": ["5840"], "mesh": ["D020162"], "omim": ["207800"], "synonyms": []} |
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Bietti's Crystalline Dystrophy
Other namesBietti crystalline corneoretinal dystrophy[1]
Bietti's crystalline dystrophy has an autosomal recessive pattern of inheritance.
Bietti's crystalline dystrophy (BCD), is a rare autosomal recessive[2] eye disease named after Dr. G. B. Bietti.[3]
BCD is a rare disease and appears to be more common in people with Asian ancestry.[4][5][6]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Presentation[edit]
Symptoms of BCD include:
* Crystals in the cornea (the clear covering of the eye)
* Yellow, shiny deposits on the retina
* Progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction.
## Genetics[edit]
BCD is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
BCD is associated with mutations in the CYP4V2 gene.[2] The nematode C. elegans has a duplicated gene (cyp31A2 and cyp31A3) that are orthologous of the human gene. These genes code for cytochrome P450s involved in fatty acid synthesis.[7]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (September 2017)
## Treatment[edit]
At this time, there is no treatment for BCD. Genetic studies are being conducted to find treatments for patients with BCD.[8]
## References[edit]
1. ^ Online Mendelian Inheritance in Man (OMIM): 210370
2. ^ a b c Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am. J. Hum. Genet. 74 (5): 817–26. doi:10.1086/383228. PMC 1181977. PMID 15042513.
3. ^ Bietti G (1937). "Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen". Klinische Monatsblätter für Augenheilkunde. 99: 737–757.
4. ^ Furusato E, Cameron JD, Chan CC (2010). "Evolution of Cellular Inclusions in Bietti's Crystalline Dystrophy". Ophthalmol Eye Dis. 2010 (2): 9–15. doi:10.4137/OED.S2821. PMC 3045089. PMID 21359135.
5. ^ Sahu, DK; Rawoof, AB (2002). "Bietti's crystalline dystrophy". Indian J Ophthalmol. Medknow. 50 (4): 330–332. PMID 12532504.
6. ^ Welch, RB (1977). "Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy". Trans Am Ophthalmol Soc. 75: 164–79. PMC 1311548. PMID 306693.
7. ^ Benenati G, Penkov S, Müller-Reichert T, Entchev EV, Kurzchalia TV (May–Jun 2009). "Two cytochrome P450s in Caenorhabditis elegans are essential for the organization of eggshell, correct execution of meiosis and the polarization of embryo". Mech Dev. 126 (5–6): 382–93. doi:10.1016/j.mod.2009.02.001. PMID 19368796. S2CID 17220562.
8. ^ "Facts About Bietti's Crystalline Dystrophy | National Eye Institute". nei.nih.gov. Retrieved 18 October 2018.
## External links[edit]
* Bietti's crystalline dystrophy at NIH's Office of Rare Diseases
Classification
D
* ICD-10: H15.5
* OMIM: 210370
* MeSH: C535440
* DiseasesDB: 33427
External resources
* Orphanet: 41751
* v
* t
* e
* Diseases of the human eye
Adnexa
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Other
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Infections
* Trachoma
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Bietti's crystalline dystrophy | c1859486 | 29,454 | wikipedia | https://en.wikipedia.org/wiki/Bietti%27s_crystalline_dystrophy | 2021-01-18T18:36:47 | {"gard": ["10050"], "mesh": ["C535440"], "umls": ["C1859486"], "orphanet": ["41751"], "wikidata": ["Q4904691"]} |
Baló's concentric sclerosis
Typical aspects of Baló's concentric sclerosis. (a) Original case of Baló; several anastomoses are located in the lower half of the lesion. (b) Lesion centered by a veinule showing ring fragmentation in a constrained area. (c) Lesion. (d) Progress of the pathologic process from a center located in a constrained area, showing formation of bands. Loyez staining (myelin in black, destroyed areas in white); scale bars: 1 cm.
SpecialtyNeurology
Baló's concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers, leaving the axis cylinder intact.[1] It was described by József Mátyás Baló who initially named it "leuko-encephalitis periaxialis concentrica" from the previous definition,[2] and it is currently considered one of the borderline forms of multiple sclerosis.
Baló's concentric sclerosis is a demyelinating disease similar to standard multiple sclerosis, but with the particularity that the demyelinated tissues form concentric layers. Scientists used to believe that the prognosis was similar to Marburg multiple sclerosis, but now they know that patients can survive, or even have spontaneous remission and asymptomatic cases.[3]
The concentric ring appearance is not specific to Baló's MS. Concentric lesions have also been reported in patients with neuromyelitis optica, standard MS, progressive multifocal leukoencephalopathy, cerebral autosomal dominant arteriopathy with subcortical infarcts, leukoencephalopathy, concomitant active hepatitis C and human herpes virus 6.[4]
## Contents
* 1 Pathophysiology
* 1.1 Theoretical models
* 1.2 Other models
* 2 Clinical courses
* 3 Diagnosis
* 3.1 Paediatric cases
* 3.2 Lesions in autopsy and biopsy
* 3.3 Lesions under MRI
* 4 Treatment
* 5 Epidemiology
* 5.1 Associations
* 6 Pattern III (Baló-like) demyelinating spectrum
* 6.1 Origin of the lesions
* 7 History
* 8 See also
* 9 References
* 10 External links
## Pathophysiology[edit]
The lesions of the Baló's sclerosis belong to the MS lesion pattern III (distal oligodendrogliopathy).[5] Balo concentric sclerosis is now believed to be a variant of pattern III multiple sclerosis[6] and probably due to metabolic problems.[7]
The Baló lesions show veins at their center, like those of MS, some suggestive of microhemorrhages or small ectatic venules. Unlike MS, no cortical gray matter lesions appear.[8]
### Theoretical models[edit]
According with Dr. Lucchinetti investigations, in Baló's concentric sclerosis, the rings may be caused by a physiological hypoxia (similar to that caused by some toxins or viruses) in the lesion, which is in turn countered by expression of stress proteins at the border. This expression and counter-expression forms rings of preserved tissue within the lesion and rings of demyelinated tissue just beyond where the previous attack had induced the protective stress proteins. Hence, subsequent attacks form concentric rings.[9]
Some other researchers maintain that, as in pattern III MS, the mitochondrial respiratory chain complex IV activity is reduced and this could be the culprit of glutamate-mediated axonal injury.[10]
Ultimately, this expanding lesion causes the progressive picture typically seen. However, in some patients, the pathology underlying the disease appears to burn out and hence the disease may halt, hence the patients who spontaneously recover. The mechanisms triggering attacks and recovery remain uncertain.[citation needed]
Nevertheless, this model is questioned by recent reports that found astrocyte damage, similar to the one found in aquaporin-seropositive neuromyelitis optica. Though no anti-NMO antibodies have been found, the damage is similar, pointing to problems in the water channel of the astrocytes[11][12]
It presents three clinical subtypes: Monophasic, relapsing-remitting and primary rapidly progressive. Cerebrospinal fluid (CSF) is either normal or shows mild mononuclear inflammatory reaction. CSF-restricted oligoclonal bands are present only in a minority of cases[13][14]
### Other models[edit]
A mathematical model for concentric sclerosis has been proposed.[15] Authors review the previous pathogenic theories, discuss the link between concentric sclerosis and Liesegang's periodic precipitation phenomenon and propose a new mechanism based on self-organization.[citation needed]
## Clinical courses[edit]
It that the clinical course is primary progressive, but a relapsing-remitting course has been reported.[16] It seems that the course gets better with prednisone therapy,[17] although evidence of this is anecdotal and such conclusions are difficult to accept given that there are cases where patients spontaneously recover whether the patient was on steroid therapy or not.
Baló lesions can disappear over time, but it has also been reported that the disease can convert to RRMS[18]
The clinical course of Balo-like lesions also depends to the context in which they appear. Balo-like lesions have been reported in aquaporin-4 seropositive and seronegative NMOSD, and also in children, as part of an ADEM-like presentation[19]
## Diagnosis[edit]
Lesions under MRI are distinctive due to their natural concentric shape.[citation needed]
Under a lumbar puncture CSF test, with Baló's concentric sclerosis, as well as patients with pattern III lesions, were recently shown to be mostly negative for CSF-restricted oligoclonal bands.[13][20] Also pattern III patients tend to be negative under the MRZ-reaction (measles, rubeola and zoster viruses)[20]
### Paediatric cases[edit]
Baló's concentric sclerosis in children has been reported to behave different from adults[21]
### Lesions in autopsy and biopsy[edit]
A report comparing 1H-magnetic resonance spectroscopy, magnetization transfer and diffusion tensor imaging with histopathology in a patient with Baló's concentric sclerosis, found that inflammation was traced by fractional anisotropy and increased lactate. In contrast, magnetization transfer ratio and the diffusion coefficient show a loss of tissue in the rings of the lesion.[22]
### Lesions under MRI[edit]
The features of the MRI and the characteristics of the lesion can be correlated when a biopsy has been taken, providing a way to standardize the future MRI diagnosis[23]
Baló's concentric sclerosis lesions can be distinguished from normal lesions on MRI showing alternating hypointense and hyperintense layers[24]
Baló's concentric lesions can be viewed using the myelin water imaging techniques. This is a special MRI sequence that shows the myelin's percentage of water content.[25]
Pattern III lesions, including Baló lesions, have a specific initiation pattern under MRI (MRILIP) consisting in showing Gadolinium enhancement before FLAIR MRI appearance.[26]
Under 7-Tesla MRI Ball lesions show a center vein, like in MS.[27]
## Treatment[edit]
Treatment with corticosteroids is usual to relieve inflammation.
## Epidemiology[edit]
The disease is more common in Chinese and Filipino populations (both Asiatic) than in caucasoids.[28]
Balo-like lesions have been reported to appear also in Tumefactive inflammatory leukoencephalopathy[29]
### Associations[edit]
A possible association with psoriasis and autoimmune thyroiditis has been reported[30]
## Pattern III (Baló-like) demyelinating spectrum[edit]
Baló-like lesions were classified as MS lesion pattern III in the MS spectrum. They have been reported alone, but also associated to standard multiple sclerosis, neuromyelitis optica, CADASIL and progressive multifocal leukoencephalopathy[31]
There is an overlap between what is considered Baló concentric sclerosis and some atypical cases of multiple sclerosis. A special subtype of multiple sclerosis presents Baló-like lesions (pattern III lesions) creating an intersection between these two conditions.[32]
Some patients with BCS present oligoclonal bands while others do not. It has been proposed that BCS lesions may not denote a single disease, but a final pathway of various demyelinating diseases, reflecting the presence of intralesional hypoxia as recently proposed[33]
Recently it has been reported that pattern III lesions are responsive to Mitoxantrone.[34] On the other hand, this pattern is the less responsive to plasmapheresis[35]
Pattern III lesions can be diagnosed without a biopsy because these patients show a high reactivity to AQP1 (without antibody) and varicella zoster virus (VZV).[36]
### Origin of the lesions[edit]
Pattern III lesions were for sometime thought to be a MS nascent lesion, though it is not likely anymore.[37] A strain of bacterium Clostridium perfringens has been found in Pattern III lesions.[38] Tests in mice found that a toxin made by a rare strain of C. perfringens caused MS-like damage in the brain, and earlier work had identified this strain of C. perfringens in a human with MS.[39] MS patients were found to be 10 times more immune-reactive to the epsilon toxin than healthy people.[40]
Later reports state that Baló's patients showed loss of AQP1 and AQP4 in demyelinating lesions without binding auto-antibodies but with high reactivities to AQP1 peptides, which probably reflect astrocytic damage[36]
## History[edit]
Though the disease carries the name of József Baló, it was first described by Otto Marburg in 1906.[41] Later, in 1928, József Baló studied the encephalitis periaxialis concentrica in a Hungarian patient, showing also demyelination of the peripheral nervous system.[citation needed]
## See also[edit]
* Multiple sclerosis
* The Lesion Project
* Tumefactive multiple sclerosis
## References[edit]
1. ^ Baló J (1928). "Encephalitis periaxialis concentrica". Archives of Neurology and Psychiatry. 19 (2): 242–244. doi:10.1001/archneurpsyc.1928.02210080044002.
2. ^ Purohit; et al. (2015). "Balo's Concentric Sclerosis with Acute Presentation and Co-Existing Multiple Sclerosis-Typical Lesions on MRI". Case Reports in Neurology. 7 (1): 44–50. doi:10.1159/000380813. PMC 4386112. PMID 25873888.
3. ^ Karaarslan E, Altintas A, Senol U, et al. (August 2001). "Baló's concentric sclerosis: clinical and radiologic features of five cases". American Journal of Neuroradiology. 22 (7): 1362–1367. PMID 11498428.
4. ^ Ertuğrul Ö, Çiçekçi E, Cudi Tuncer M, Ufuk Aluçlu M (Oct 2018). "Balo's concentric sclerosis in a patient with spontaneous remission based on magnetic resonance imaging: A case report and review of literature". World J Clin Cases. 6 (11): 447–454. doi:10.12998/wjcc.v6.i11.447. PMC 6163147. PMID 30294609.CS1 maint: multiple names: authors list (link)
5. ^ (Article in Spanish) Archived 2007-04-30 at the Wayback Machine
6. ^ Popescu Bogdan F., Pirko Istvan, Lucchinetti Claudia F. (2013). "Pathology of Multiple Sclerosis: Where Do We Stand?". Continuum (Minneap Minn). 19 (4 Multiple Sclerosis): 901–921. doi:10.1212/01.CON.0000433291.23091.65. PMC 3915566. PMID 23917093.CS1 maint: multiple names: authors list (link)
7. ^ Qiao Ling Cui, Malena Rone, Damla Khan, Melissa Bedard, Guillermina Almazan, Samuel Ludwin, Timophy Kennedy and Jack Antel, Oligodendrogliopathy in Multiple Sclerosis: Relation to Low Glycolytic Metabolic Rate of Oligodendrocytes (I10.004), Neurology 2016; vol. 86 no. 16 Supplement I10.004
8. ^ J. Behrens et al. 7 Tesla MRI of Balo's concentric sclerosis versus multiple sclerosis lesions, Annals of clinical and tranlational neurology, 29 June 2018, Volume5, Issue8, Pages 900-912, https://doi.org/10.1002/acn3.572
9. ^ Genetic susceptibility in MS – Steve Hauser. Rare Neuroimmunologic Disorders Symposium [1]
10. ^ Mahad D. J., Ziabreva I., Campbell G., Lax N., White K., Hanson P. S., Lassmann H., Turnbull D. M. (2009). "Mitochondrial changes within axons in multiple sclerosis". Brain. 132 (5): 1161–1174. doi:10.1093/brain/awp046. PMC 3605917. PMID 19293237.CS1 maint: multiple names: authors list (link)
11. ^ Matsuoka Takeshi; et al. (Nov 2010). "Aquaporin-4 astrocytopathy in Baló's disease". Acta Neuropathologica. 120 (5): 651–660. doi:10.1007/S00401-010-0733-7. PMID 20680636. S2CID 13604700.
12. ^ Kira J (Jul 2011). "Astrocytopathy in Balo's disease". Multiple Sclerosis. 17 (7): 771–779. doi:10.1177/1352458511400475. PMID 21459811. S2CID 24127230.
13. ^ a b Jarius S, Würthwein C, Behrens JR, Wanner J, Haas J, Paul F, Wildemann B (2018). "Baló's concentric sclerosis is immunologically distinct from multiple sclerosis: results from retrospective analysis of almost 150 lumbar punctures". Journal of Neuroinflammation. 15 (1): 22. doi:10.1186/s12974-017-1043-y. PMC 5774135. PMID 29347989.CS1 maint: multiple names: authors list (link)
14. ^ Saeed Arif et al, Onion Peel Appearance in Balos Concentric Sclerosis, A Variant of Multiple Sclerosis, Journal of Ayub Medical College, Abbottabad, 2015;27(1)
15. ^ Khonsari RH, Calvez V (2007). Monk N (ed.). "The Origins of Concentric Demyelination: Self-Organization in the Human Brain". PLOS ONE. 2 (1): e150. Bibcode:2007PLoSO...2..150K. doi:10.1371/journal.pone.0000150. PMC 1764710. PMID 17225855.
16. ^ Moore GR, Berry K, Oger JJ, Prout AJ, Graeb DA, Nugent RA (December 2001). "Baló's concentric sclerosis: surviving normal myelin in a patient with a relapsing-remitting dinical course". Multiple Sclerosis. 7 (6): 375–382. doi:10.1177/135245850100700606. PMID 11795459. S2CID 10019226.
17. ^ Garbern J, Spence AM, Alvord EC (December 1986). "Balo's concentric demyelination diagnosed premortem". Neurology. 36 (12): 1610–1614. doi:10.1212/WNL.36.12.1610. PMID 3785678. S2CID 43010179.
18. ^ Novoselova OM, Il'Ves AG, Savintseva ZI, Prakhova LN, Zaplakhova OV, Bakhtiyarova KZ (2018). "[A case-report of Balo concentric sclerosis transformed into definite multiple sclerosis]". Zh Nevrol Psikhiatr Im S S Korsakova. 118 (8): 103–106. doi:10.17116/jnevro2018118082103. PMID 30160676.CS1 maint: multiple names: authors list (link)
19. ^ Todd A. Hardy, Atypical Inflammatory Demyelinating Syndromes of the Central Nervous System, Neuroimmune Diseases pp 543-566, 14 August 2019 [2]
20. ^ a b Jarius S, König FB, Metz I, Ruprecht K, Paul F, Brück W, Wildemann B (2017). "Pattern II and pattern III MS are entities distinct from pattern I MS: evidence from cerebrospinal fluid analysis". Journal of Neuroinflammation. 14 (1): 171. doi:10.1186/s12974-017-0929-z. PMC 5576197. PMID 28851393.CS1 maint: multiple names: authors list (link)
21. ^ Linnoila J, Chitnis T (2014). "Balo Concentric Sclerosis in Children: A Case Series". Journal of Child Neurology. 29 (5): 603–607. doi:10.1177/0883073813517294. PMID 24423690. S2CID 29304147.
22. ^ Lindquist S (2007). "Histopathology and serial, multimodal magnetic resonance imaging in a multiple sclerosis variant". Multiple Sclerosis. 13 (4): 471–482. doi:10.1177/1352458506071329. PMID 17463070. S2CID 35380552.
23. ^ Darke Bahador, Miller Litofsky, Ahsan (2013). "Baló's concentric sclerosis: imaging findings and pathological correlation". Journal of Radiology Case Reports. 7 (6): 1–8. doi:10.3941/jrcr.v7i6.1251. PMC 3888114. PMID 24421937.CS1 maint: multiple names: authors list (link)
24. ^ Iannucci; et al. (2000). "Vanishing Balò-like lesions in multiple sclerosis". Journal of Neurology, Neurosurgery & Psychiatry. 69 (3): 399–400. doi:10.1136/jnnp.69.3.399. PMC 1737083. PMID 10945819.
25. ^ Laule Cornelia; et al. (2008). "Myelin water imaging of multiple sclerosis at 7 T: Correlations with histopathology". NeuroImage. 40 (4): 1575–1580. doi:10.1016/j.neuroimage.2007.12.008. PMID 18321730. S2CID 5855952.
26. ^ Charles; et al. (2015). "Multiple sclerosis lesion formation and early evolution revisited: A weekly high-resolution magnetic resonance imaging study". Multiple Sclerosis Journal. 22 (6): 761–769. doi:10.1177/1352458515600247. PMID 26362901. S2CID 3326176.
27. ^ Behrens JR; et al. (2018). "7 Tesla MRI of Balo's concentric sclerosis versus multiple sclerosis lesions". Annals of Clinical and Translational Neurology. 5 (8): 900–912. doi:10.1002/acn3.572. PMC 6093849. PMID 30128315.
28. ^ Article at mult-sclerosis.org
29. ^ Lucas M.Pessini, Tumefactive inflammatory leukoencephalopathy in cocaine users: Report of three cases, Multiple Sclerosis and Related Disorders, Volume 38, February 2020, 101496
30. ^ Corina Roman-Filip, Aurelian Ungureanu, Ileana Praƒvariu, Baló-like Lesion With Psoriasis and Autoimmune Thyroiditis, Essays, UK. (November 2018)
31. ^ Commentary on Pique et al.’s paper entitled: Peripheral late reactivation of a previously typical monofocal Balo’s concentric sclerosis lesion [3]
32. ^ Hardy Todd A, Tobin W Oliver, Lucchinetti Claudia F (2016). "Exploring the overlap between multiple sclerosis, tumefactive demyelination and Baló's concentric sclerosis". Multiple Sclerosis Journal. 22 (8): 986–992. doi:10.1177/1352458516641776. PMID 27037180. S2CID 3810418.CS1 maint: multiple names: authors list (link)
33. ^ Jarius S, Würthwein C, Behrens JR, Wanner J, Haas J, Paul F, Wildemann B (2018). "Baló's concentric sclerosis is immunologically distinct from multiple sclerosis: results from retrospective analysis of almost 150 lumbar punctures". J Neuroinflammation. 15: 22. doi:10.1186/s12974-017-1043-y. PMC 5774135. PMID 29347989.CS1 maint: multiple names: authors list (link)
34. ^ Grüter Thomas, Metz Imke, Gahlen Anna, Kneiphof Janina, Stork Lidia, Brück Wolfgang, Gold Ralf, Kleiter Ingo (2018). "Mitoxantrone treatment in a patient with multiple sclerosis and pattern III lesions". Clinical and Experimental Neuroimmunology. 9 (3): 169–172. doi:10.1111/cen3.12466. S2CID 81454231.CS1 maint: multiple names: authors list (link)
35. ^ Stork Lidia, Ellenberger David, Beißbarth Tim, Friede Tim, Lucchinetti Claudia F., Brück Wolfgang, Metz Imke (2018). "Differences in the Reponses to Apheresis Therapy of Patients With 3 Histopathologically Classified Immunopathological Patterns of Multiple Sclerosis". JAMA Neurology. 75 (4): 428–435. doi:10.1001/jamaneurol.2017.4842. PMC 5885209. PMID 29404583.CS1 maint: multiple names: authors list (link)
36. ^ a b Stork; et al. (2020). "Antibody signatures in patients with histopathologically defined multiple sclerosis patterns". Acta Neuropathol. 139 (3): 547–564. doi:10.1007/s00401-019-02120-x. PMC 7035238. PMID 31950335.
37. ^ Wolfgang Brück MD Bogdan Popescu MD Claudia F. Lucchinetti MD Silva Markovic‐Plese MD, PhD Ralf Gold MD Dietmar Rudolf Thal MD Imke Metz MD, Neuromyelitis optica lesions may inform multiple sclerosis heterogeneity debate, 14 April 2012, https://doi.org/10.1002/ana.23621
38. ^ Rashid Rumah Kareem, Linden Jennifer, Fischetti Vincent A., Vartanian Timothy (2013). "Isolation of Clostridium perfringens Type B in an Individual at First Clinical Presentation of Multiple Sclerosis Provides Clues for Environmental Triggers of the Disease". PLOS ONE. 8 (10): e76359. Bibcode:2013PLoSO...876359R. doi:10.1371/journal.pone.0076359. PMC 3797790. PMID 24146858.CS1 maint: multiple names: authors list (link)
39. ^ "Multiple sclerosis 'linked to food bug'". BBC. 29 January 2014. Retrieved 29 January 2014.
40. ^ Woerner, Amanda (29 January 2014). "Bacterial toxin may trigger multiple sclerosis, research finds".
41. ^ Commentary on Pique et al.’s paper entitled: Ciampi Ethel, Tur Carmen, Montalban Xavier (2015). "Peripheral late reactivation of a previously typical monofocal Baló's concentric sclerosis lesion". Multiple Sclerosis. 21 (8): 1084–1086. doi:10.1177/1352458515586090. PMID 26014610. S2CID 1020393.CS1 maint: multiple names: authors list (link)
Khonsari RH, Calvez V (September 2007). "Concentric demyelination by self-organization: a new hypothesis for Baló's sclerosis". Nature Clinical Practice Neurology. 3 (9): E1. doi:10.1038/ncpneuro0619. PMID 17805242. S2CID 33938721.
## External links[edit]
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Multiple sclerosis and other demyelinating diseases of the central nervous system
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[nM]: nanomolars
*[MOR]: μ-opioid receptor
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*[SERT]: Serotonin transporter
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*[ND]: No data
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*[BMI]: body mass index
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*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
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*[LSS]: lumbar spinal stenosis
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*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Balo concentric sclerosis | c0205710 | 29,455 | wikipedia | https://en.wikipedia.org/wiki/Balo_concentric_sclerosis | 2021-01-18T18:47:33 | {"gard": ["5885"], "mesh": ["D002549"], "umls": ["C0205710", "C0004712", "C0007795"], "orphanet": ["228165"], "wikidata": ["Q1783645"]} |
Tyrosinemia type III
Other namesTYRSN3[1]
Tyrosine
SpecialtyEndocrinology
Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD.[2] This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.[2]
Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
## References[edit]
1. ^ "OMIM Entry - # 276710 - TYROSINEMIA, TYPE III; TYRSN3". omim.org.
2. ^ a b Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, Gutiérrez-García VM, Santos-Guzmán J, Cantú-Reyna C (27 November 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.
## External links[edit]
Classification
D
* ICD-10: E70.2
* ICD-9-CM: 270.2
* OMIM: 276710
* MeSH: D020176
* DiseasesDB: 29836
External resources
* eMedicine: ped/2339
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Tyrosinemia type III | c0268623 | 29,456 | wikipedia | https://en.wikipedia.org/wiki/Tyrosinemia_type_III | 2021-01-18T19:04:37 | {"gard": ["10332"], "mesh": ["D020176"], "icd-9": ["270.2"], "icd-10": ["E70.2"], "orphanet": ["69723"], "wikidata": ["Q7861692"]} |
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
## Epidemiology
Prevalence is unknown. Only 24 cases have been reported.
## Clinical description
The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections caused by Streptococcus pneumoniae, Staphylococcus aureus or Pseudomonas aeruginosa. Patients are normally resistant to most other agents. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Acute phase responses seen in invasive infections such as elevated temperature and C-reactive protein (CrP) levels may be lower or absent.
## Etiology
MyD88 deficiency, resulting from mutations in the MYD88 gene (3p22-3p21.3), generally abolishes the cytokine responses of the blood cells.
## Diagnostic methods
MyD88 deficiency should be suspected in patients with recurrent pyogenic bacterial infections. Diagnosis can be suspected if whole blood cells do not produce inflammatory cytokines upon activation with IL-1beta or Toll-like receptor agonists. Diagnosis can be confirmed by observation of mutations in the MYD88 gene.
## Differential diagnosis
Differential diagnoses include interleukin-1 receptor associated kinase-4 (IRAK4) deficiency (see this term), which can be ruled out by the absence of mutations in the IRAK4 gene, NF-kappaB essential modulator (NEMO) deficiency and inhibitor of NFkappaB essential modulator (IkappaB-alpha) deficiency (see these terms).
## Antenatal diagnosis
Antenatal diagnosis is possible by trophoblast biopsy when the mutation is identified in the family.
## Genetic counseling
Transmission is autosomal recessive and the disease has been observed in consanguineous and nonconsanguineous families. Genetic counseling is available.
## Management and treatment
Treatment is based on prophylactic antibiotic therapy to prevent infections. Additional IgG substitution may be considered, in particular for patients with impaired antibody responses to polysaccharides. The most important advice for the families and physicians of MyD88-deficient patients is to initiate empiric parenteral antibiotic treatment against Streptococcus pneumoniae, Staphylococcus aureus and Pseudomonas aeruginosa, as soon as an infection is suspected or if the patient develops a moderate fever, without taking inflammatory parameters into account, as patients may die from rapid invasive bacterial infection despite appropriate prophylaxis. Secondary adaptation of antibiotic treatment should be done once the causal bacterium has been documented.
## Prognosis
Prognosis in infancy and early childhood is poor, in particular if the disease is not known to parents and physicians. With appropriate prophylactic antibiotic treatment, the prognosis for most patients improves, with infections becoming less frequent 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
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Bacterial susceptibility due to TLR signaling pathway deficiency | c2677092 | 29,457 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183713 | 2021-01-23T19:08:46 | {"gard": ["12638"], "mesh": ["C567379"], "omim": ["612260"], "umls": ["C2677092"], "icd-10": ["D84.8"]} |
Disease of citrus plants
Citrus exocortis viroid
Virus classification
(unranked): Virus
Realm: incertae sedis
Kingdom: incertae sedis
Phylum: incertae sedis
Class: incertae sedis
Order: incertae sedis
Family: Pospiviroidae
Genus: Pospiviroid
Species:
Citrus exocortis viroid
Citrus exocortis is a disease of citrus plants, caused by the Citrus exocortis viroid (CEVd). It can cause stunted growth and reduced yields in affected plants. The disease is also sometimes called "scalybutt".[1] CEVd can also infect tomato plants. The resulting disease is sometimes called "tomato bunchy top disease."[2]
## Contents
* 1 Symptoms
* 2 Management
* 3 See also
* 4 References
## Symptoms[edit]
Other symptoms include leaf epinasty, stunting, and necrosis of the leaf midvein. Affected trees will show rootstock "shelling" where the bark peels off of the rootstock – the lower tree that the main orange cultivar was grafted onto. Generally trifoliate orange rootstocks and their hybrids are susceptible.[3]
## Management[edit]
Infected trees should be culled from the orchard. When pruning in infected orchards, tools must be vigorously bleached between cuts to prevent cross-contamination and the spread of infections. Heat does not kill the viroid.[3]
## See also[edit]
* List of citrus diseases
## References[edit]
1. ^ "Citrus exocortis" (PDF). NSW Department of Primary industries. Retrieved 3 October 2011.
2. ^ Mishra MD, Hammond RW, Owens RA, Smith DR, Diener TO (August 1991). "Indian bunchy top disease of tomato plants is caused by a distinct strain of citrus exocortis viroid". Journal of General Virology. 72 (8): 1781–5. doi:10.1099/0022-1317-72-8-1781. PMID 1875190.
3. ^ a b "Exocortis / Citrus / Agriculture: Pest Management Guidelines / UC Statewide IPM Program (UC IPM)". www2.ipm.ucanr.edu. Retrieved 2020-04-21.
* v
* t
* e
Citrus
True species
* Australian and Papuan wild limes
* Biasong/Samuyao
* Citron
* Clymenia
* Indian wild orange
* Ichang papeda
* Kumquat
* Mandarin
* Mangshanyegan
* Pomelo
Major hybrids
* Grapefruit
* Lemon
* Lime
* Orange
True and hybrid
cultivars
* Alemow
* Amanatsu
* Bergamot orange
* Bizzaria
* Bitter orange
* Blood lime
* Blood orange
* Byeonggyul
* Cam sành
* Cara cara navel
* Cherry orange
* Citrange
* Citrumelo
* Clementine
* Daidai
* Dekopon
* Fairchild tangerine
* Florentine citron
* Hassaku orange
* Hebesu
* Hyuganatsu
* Imperial lemon
* Iyokan
* Jabara
* Jaffa orange
* Jamaican tangelo
* Kabbad
* Kabosu
* Kaffir lime
* Kakadu lime
* Kalpi
* Key lime
* Khasi papeda
* Kinnow
* Kishumikan
* Kiyomi
* Koji
* Komikan
* Kuchinotsu No. 37
* Laraha
* Lemonade fruit
* Limón de Pica
* Lumia
* Mandelo
* Mandora
* Melanesian papeda
* Melogold
* Meyer lemon
* Midknight Valencia Orange
* Murcott
* Myrtle-leaved orange tree
* New Zealand grapefruit
* Ōgonkan
* Orangelo/Chironja
* Oroblanco
* Palestinian sweet lime
* Persian lime
* Pixie mandarin
* Ponderosa lemon
* Ponkan
* Rangpur
* Reikou
* Rhobs el Arsa
* Rough lemon
* Sanbokan
* Satsuma mandarin
* Setoka
* Shangjuan
* Shonan Gold
* Smith Red Valencia
* Sudachi
* Sweet lemon
* Sweet limetta
* Tangelo
* Tangerine
* Tangor
* Valencia orange
* Variegated pink lemon
* Volkamer lemon
* Winged lime
* Xã Đoài orange
* Yuukou mandarin
* Yuzu
Citrons
* Balady citron
* Corsican citron
* Diamante citron
* Fingered citron/Buddha's hand
* Greek citron
* Moroccan citron
* Yemenite citron
Mandarin oranges
* Cleopatra mandarin
* Shīkwāsā
* Nanfengmiju
* Tachibana
Papedas
* Citrus halimii/Mountain "citron"
* Ichang papeda
Pomelos
* Banpeiyu
* Dangyuja
Australian and Papuan citrus
(Microcitrus, Eromocitrus,
Clymenia and Oxanthera subgenera)
* Australian outback lime
* Australian round lime
* Brown River finger lime
* Desert lime
* Mount White lime (Microcitrus)
* New Guinea wild lime
* Russell River lime
* Clymenia
* Oxanthera
Kumquat hybrids
(× Citrofortunella)
* Calamansi
* Citrangequat
* Limequat
* Orangequat
* Procimequat
* Sunquat
* Yuzuquat
Related genera
(perhaps properly Citrus)
* Poncirus/Trifoliate orange
* Feroniella
Drinks
* Calamansi juice
* Chūhai
* Curaçao
* Dried lime tea (noomi basra)
* Grapefruit juice
* Lemonade
* Limeade
* Orange juice
* Yuja-hwachae
* Yuja tea
Products
* Calcium citrate
* Citric acid
* Lemonene
* Limonene
* Neroli
* Orange flower water
* Orange oil
* Orangeat
* Succade
* Zest
Diseases
* Black spot
* Canker
* CTV/Tristeza
* Exocortis
* Greening
* Mal secco
* Phytophthora
* citricola
Citrus botanists
* Clara H. Hasse
* Robert Willard Hodgson
* Lena B. Smithers Hughes
* David Mabberley
* Clément Rodier
* Robert Soost
* Walter Tennyson Swingle
* Chōzaburō Tanaka
* Ikuro Takahashi
* Johann Christoph Volkamer
* Herbert John Webber
Related topics
* The Citrus Industry
* Citrus production
* Citrus rootstock
* Citrus taxonomy
* Cold-hardy citrus
* Hesperidium
* Japanese citrus
* List of citrus fruits
* Mother Orange Tree
* Orangery
* University of California Citrus Experiment Station
* University of California, Riverside Citrus Variety Collection
* Book
* Category
* Production
* Commons
This agriculture article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Citrus exocortis | None | 29,458 | wikipedia | https://en.wikipedia.org/wiki/Citrus_exocortis | 2021-01-18T18:37:49 | {"wikidata": ["Q5122900"]} |
Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
## Epidemiology
The exact annual incidence of this form of PS is not known but the incidence of all forms of PS is 1/100,000.
## Clinical description
PS1 concerns patients with an overall mildly to moderately severe clinical picture and a generally favorable course. Patients present with bicoronal craniosynostosis, moderate to severe mid-face hypoplasia, broad medially deviated thumbs and halluces, and variable brachydactyly and syndactyly. Associated features may include bilateral symmetrical hearing loss and hydrocephalus. Milder phenotypes typically allow for normal brain development, limiting the number of associated complications. Intelligence is usually normal or just below average. In mild cases, the need for corrective surgery is also limited. Congenital airway compromise is not a complication in type 1 patients. PS1 has a much more favorable prognosis than PS type 2 or type 3.
## Etiology
PS1 is most commonly caused by mutations in the FGFR2 gene (10q25.3-q26), and in rare instances by mutations in the FGFR1 gene (8p11.23-p11.22).
## Genetic counseling
Pfeiffer syndrome follows an autosomal dominant pattern of inheritance, observed primarily in non-severe cases compatible with long-term survival. Genetic counseling for affected families is recommended.
## Prognosis
Due to decreased need for extensive corrective surgery and essentially normal intellectual development, overall prognosis in PS1 is much more favorable than in Pfeiffer syndrome type 2 or type 3.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pfeiffer syndrome type 1 | c0220658 | 29,459 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93258 | 2021-01-23T17:35:52 | {"mesh": ["D000168"], "omim": ["101600"], "icd-10": ["Q87.0"], "synonyms": ["Classic Pfeiffer syndrome"]} |
Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Carcinosarcoma of the cervix uteri | c1332917 | 29,460 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213787 | 2021-01-23T18:50:00 | {"icd-10": ["C53"], "synonyms": ["Cervical carcinosarcoma", "Cervical malignant Müllerian mixed tumor", "Malignant Müllerian mixed tumor of the cervix uteri"]} |
A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital pseudoarthrosis of the radius | None | 29,461 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295024 | 2021-01-23T17:01:22 | {"icd-10": ["Q74.0"], "synonyms": ["Congenital pseudarthrosis of the radius"]} |
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pachygyria | c0266483 | 29,462 | gard | https://rarediseases.info.nih.gov/diseases/7300/pachygyria | 2021-01-18T17:58:29 | {"mesh": ["D054082"], "omim": ["610279", "600176"], "umls": ["C0266483"], "orphanet": ["329329", "2798"], "synonyms": ["Macrogyria", "Broad gyri of cerebrum", "Large gyri of cerebrum"]} |
A number sign (#) is used with this entry because of evidence that LEOPARD syndrome-3 (LPRD3) is caused by heterozygous mutation in the BRAF gene (164757) on chromosome 7q34.
For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100.
Clinical Features
Sarkozy et al. (2009) reported a patient with LEOPARD syndrome who had poor growth, craniofacial anomalies, short and webbed neck, mitral and aortic valve dysplasia, cognitive deficits, neonatal hypotonia, sensorineural deafness, and seizures. Other features included thoracic defects, delayed puberty, reduced bone density, and fibrous cystic lesions of the pelvis. The skin showed hyperkeratosis, cafe-au-lait spots, multiple nevi, and dark colored lentigines that were spread on the whole body including the palms and soles.
Koudova et al. (2009) reported a 17-year-old Czech boy with LEOPARD syndrome. He was diagnosed with tetralogy of Fallot shortly after birth and was also found to have cardiac conduction defects. From age 5 years, he developed multiple pigmented skin lesions and showed growth retardation, delayed puberty, and delayed bone age. Notable facial features included hypertelorism, depressed nasal bridge, and low-set and posteriorly rotated ears. He also had curly hair and mild unilateral sensorineural hearing loss. Psychomotor development was normal. Koudova et al. (2009) noted the phenotypic similarities to cardiofaciocutaneous syndrome-1 (CFC1; 115150).
Molecular Genetics
In 1 (17%) of 6 unrelated patients with a clinical diagnosis of LEOPARD syndrome, Sarkozy et al. (2009) identified a heterozygous de novo mutation in the BRAF gene (T241P; 164757.0024). The same mutation had previously been identified by Schulz et al. (2008) in 2 patients with CFC1, indicating the overlapping nature of the 2 disorders.
In a 17-year-old Czech boy with LPRD3, Koudova et al. (2009) identified a de novo heterozygous missense mutation in the BRAF gene (L245F; 164757.0027). Functional studies of the variant were not performed.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Poor growth HEAD & NECK Ears \- Low-set ears \- Posteriorly rotated ears \- Hearing loss, sensorineural Eyes \- Hypertelorism Nose \- Depressed nasal bridge Neck \- Short neck CARDIOVASCULAR Heart \- Cardiac defects \- Valvular defects \- Conduction defects \- Tetralogy of Fallot CHEST External Features \- Thoracic defects \- Broad chest SKELETAL \- Delayed bone age \- Reduced bone density SKIN, NAILS, & HAIR Skin \- Pigmented lesions \- Hyperkeratosis \- Lentigines \- Cafe-au-lait spots Hair \- Curly hair (in some patients) NEUROLOGIC Central Nervous System \- Cognitive defects (in some patients) \- Seizures (in some patients) MISCELLANEOUS \- Two unrelated patients have been reported (last curated May 2015) MOLECULAR BASIS \- Caused by mutation in the V-RAF murine sarcoma viral oncogene homolog B1 gene (BRAF, 164757.0024 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| LEOPARD SYNDROME 3 | c0175704 | 29,463 | omim | https://www.omim.org/entry/613707 | 2019-09-22T15:57:47 | {"doid": ["0080550"], "mesh": ["D044542"], "omim": ["613707"], "orphanet": ["500"], "genereviews": ["NBK1383"]} |
"Bug bite" redirects here. For any of various characters in the GoBots and Transformers fictional universes, see Bug Bite (Transformers).
Insect bites and stings
Aedes aegypti, the yellow fever mosquito, biting
SpecialtyEmergency medicine
Insect bites and stings occur when an insect is agitated and seeks to defend itself through its natural defense mechanisms, or when an insect seeks to feed off the bitten person. Some insects inject formic acid, which can cause an immediate skin reaction often resulting in redness and swelling in the injured area. Stings from fire ants, bees, wasps and hornets are usually painful, and may stimulate a dangerous allergic reaction called anaphylaxis for at-risk patients, and some wasps can also have a powerful bite along with a sting. Bites from mosquitoes and fleas are more likely to cause itching than pain.
The skin reaction to insect bites and stings usually lasts for up to a few days. However, in some cases, the local reaction can last for up to two years. These bites are sometimes misdiagnosed as other types of benign or cancerous lesions.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Feeding bites
* 1.2 Microscopic appearance
* 2 See also
* 3 References
* 4 External links
## Signs and symptoms[edit]
The left side of the image is showing the temperature increase caused by an insect bite after about 28 hours.
Low-magnification micrograph showing wedge-shaped perivascular inflammation (superficial dermal perivascular lymphoeosinophilic infiltrate), the histomorphologic appearance of an insect bite (H&E stain).
The reaction to a sting is of three types. The normal reaction involves the area around the bite with redness, itchiness, and pain. A large local reaction occurs when the area of swelling is greater than 5 cm. Systemic reactions are when symptoms occur in areas besides that of the bites.[2]
With insect stings a large local reaction may occur (an area of skin redness greater than 10 cm in size).[3] It can last one to two days.[3] It occurs in about 10% of those bitten.[4]
### Feeding bites[edit]
Feeding bites have characteristic patterns and symptoms, a function of the feeding habits of the offending pest and the chemistry of its saliva.
Pest Preferred body part Felt at time of bite Reaction
mosquitoes exposed appendages usually not Low raised welt, itches for several hours.
midges and no-see-ums exposed appendages usually Itches for several hours.
fleas prefer ankles and bare feet usually May make red itchy welt; several days. Later bites are less severe.
biting flies (Tabanidae) any exposed skin painful and immediate Painful welt, several hours.
bed bugs appendages, neck, exposed skin usually not Low red itchy welts, usually several together resembling rash, slow to develop and can last weeks.
lice pubic area or scalp usually not Infested area intensely itchy, with red welts at bite sites.
larval ticks Anywhere on body, but prefer covered skin, crevices. Usually not; may be scratched off before they are seen. Intensely itchy red welts lasting over a week.
adult ticks covered skin, crevices, entire body usually not Itchy welt, several days. May transmit diseases.
mites mainly on the trunk and extremities usually not Intensely itchy welts and papules that may last for days.
### Microscopic appearance[edit]
The histomorphologic appearance of insect bites is usually characterized by a wedge-shaped superficial dermal perivascular infiltrate consisting of abundant lymphocytes and scattered eosinophils. This appearance is non-specific, i.e. it may be seen in a number of conditions including:[5]
* Drug reactions,
* Urticarial reactions,
* Prevesicular early stage of bullous pemphigoid, and
* HIV related dermatoses.
## See also[edit]
* List of biting or stinging arthropods
* Spider bite
* Insect bite relief stick
* Schmidt sting pain index
* Bee sting
* Allergy
## References[edit]
1. ^ Allen, Arthur C. (March 1948). "Persistent "Insect Bites" (Dermal Eosinophilic Granulomas) Simulating Lymphoblastomas, Histiocytoses, and Squamous Cell Carcinomas". Am J Pathol. 24 (2): 367–387. PMC 1942711. PMID 18904647.
2. ^ Goddard, Jerome (2002). Physician's guide to arthropods of medical importance. Boca Raton: CRC Press. pp. 14. ISBN 978-0-8493-1387-5.
3. ^ a b Ludman, SW; Boyle, RJ (2015). "Stinging insect allergy: current perspectives on venom immunotherapy". Journal of Asthma and Allergy. 8: 75–86. doi:10.2147/JAA.S62288. PMC 4517515. PMID 26229493.
4. ^ Maynard, Robert J. Flanagan, Alison L. Jones ; with a section on antidotes and chemical warfare by Timothy C. Marrs and Robert L. (2003). Antidotes. London: Taylor & Francis. p. 118. ISBN 9780203485071. Retrieved 7 June 2016.
5. ^ Alsaad, KO.; Ghazarian, D. (Dec 2005). "My approach to superficial inflammatory dermatoses". J Clin Pathol. 58 (12): 1233–41. doi:10.1136/jcp.2005.027151. PMC 1770784. PMID 16311340.
## External links[edit]
Classification
D
* ICD-10: T14.1, X23-X25, W57
* ICD-9-CM: 919.4, 989.5, E905.3, E905.5, E906.4
* MeSH: D007299
External resources
* MedlinePlus: 000033
* Venomous Arthropods chapter in United States Environmental Protection Agency and University of Florida/Institute of Food and Agricultural Sciences National Public Health Pesticide Applicator Training Manual
* 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
General wounds and injuries
Abrasions
* Abrasion
* Avulsion
Blisters
* Blood blister
* Coma blister
* Delayed blister
* Edema blister
* Fracture blister
* Friction blister
* Sucking blister
Bruises
* Hematoma/Ecchymosis
* Battle's sign
* Raccoon eyes
* Black eye
* Subungual hematoma
* Cullen's sign
* Grey Turner's sign
* Retroperitoneal hemorrhage
Animal bites
* Insect bite
* Spider bite
* Snakebite
Other:
* Ballistic trauma
* Stab wound
* Blunt trauma/superficial/closed
* Penetrating trauma/open
* Aerosol burn
* Burn/Corrosion/Chemical burn
* Frostbite
* Occupational injuries
* Traumatic amputation
By region
* Hand injury
* Head injury
* Chest trauma
* Abdominal trauma
* v
* t
* e
Animal bites and stings
Arthropod bites
and stings
Arachnid
* Demodex mite bite
* Scorpion sting
* Spider bite / Arachnidism
* Latrodectism
* Loxoscelism
Insects
* Ant sting
* Bee sting
* Cimicosis
* Mosquito bite
* Pulicosis
* Reduviid bite
Myriapoda
* Centipede bite
* Millipede burn
Vertebrate
* Alligator attack
* Bear attack
* Beaver attack
* Boar attack
* Cougar attack
* Cat bite
* Coyote attack
* Crocodile attack
* Dingo attack
* Dog attack
* Killer whale attack
* Leopard attack
* Lion attack
* Monkey bite
* Piranha fish attack
* Shark attack
* Snakebite
* Stingray attack
* Stonefish attack
* Tiger attack
* Venomous fish
* Walrus attack
* Wolf attack
Other
* Animal attacks
* Bristleworm sting
* Cephalopod attack
* Cone snail sting
* Coral dermatitis
* Dog bite prevention
* Hydroid dermatitis
* Jellyfish dermatitis / Jellyfish sting
* Leech bite
* Man-eater
* Portuguese man-of-war dermatitis
* Sea anemone dermatitis
* Sea urchin injury
* Seabather's eruption
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Insect bites and stings | c0021564 | 29,464 | wikipedia | https://en.wikipedia.org/wiki/Insect_bites_and_stings | 2021-01-18T18:32:30 | {"mesh": ["D007299"], "icd-9": ["989.5", "919.4"], "icd-10": ["T14.1"], "wikidata": ["Q368779"]} |
A number sign (#) is used with this entry because of evidence that premature ovarian failure-5 (POF5) is caused by heterozygous mutation in the NOBOX gene (610934) on chromosome 7q35.
For a general phenotypic description and a discussion of genetic heterogeneity in premature ovarian failure, see POF1 (311360).
Molecular Genetics
Qin et al. (2007) sequenced the NOBOX gene in 96 Caucasian women with premature ovarian failure and identified a heterozygous mutation (R355H; 610934.0001) in a 35-year-old woman who had menarche at age 11 years, entered menopause at age 32, and had an elevated level of follicle-stimulating hormone (FSH; see 136530). The patient had 2 healthy children and lacked overt somatic abnormalities. She was the only child of a woman who conceived her at 26 years of age and entered menopause at 42 years of age. The R355H mutation, which was not found in 278 Caucasian female controls, acted as a dominant negative and disrupted binding of wildtype NOBOX to DNA in electrophoretic mobility shift assays.
Bouilly et al. (2011) sequenced the NOBOX gene in 178 women with primary ovarian insufficiency from a previously described cohort of 357 patients with premature ovarian failure (Bachelot et al., 2009), and identified heterozygosity for 5 pathogenic mutations in 11 probands, including 1 nonsense (R303X; 610934.0002) and 4 missense mutations (610934.0003-610934.0006). The mutations were not found in 362 ethnically matched controls or in available DNA from 3 unaffected mothers and 1 unaffected father. Functional analysis demonstrated a 50% reduction in transcriptional activity with all 5 mutations, due to disruption of binding ability. Of 12 mutation-positive patients, 3 had primary amenorrhea with absent or delayed puberty, whereas the remaining 9 patients underwent normal puberty with secondary amenorrhea. All had elevated levels of FSH and luteinizing hormone (LH; see 152780) in association with low levels of estradiol, inhibin B (see 147290), and anti-mullerian hormone (AMH; 600957). Noting the differences in phenotype among patients carrying the same mutation and even between sisters (see, e.g., 610934.0004), Bouilly et al. (2011) suggested that POF might represent an oligogenic phenotype.
Bouilly et al. (2015) analyzed the NOBOX gene in a new cohort of 213 women with 46,XX primary ovarian insufficiency and identified 5 mutations in 12 (5.6%) of the patients (see, e.g., 610934.0003-610934.0004). Ten of the mutation-positive women underwent puberty and experienced secondary amenorrhea in the third or fourth decade of life, whereas 2 had primary amenorrhea and did not undergo puberty. In all patients, ovarian volume was less than the normal range for a fertile premenopausal woman; no ovarian histology was available.
INHERITANCE \- Autosomal dominant GENITOURINARY Internal Genitalia (Female) \- Secondary amenorrhea (in most patients) \- Primary amenorrhea (in some patients) \- Delayed or absent puberty (in some patients) \- Ovaries normal to small by ultrasound \- Reduced or absent follicles by ultrasound \- Absence of follicles on histology (in some patients) \- Primordial or primary follicles on histology (in some patients) ENDOCRINE FEATURES \- Elevated follicle-stimulating hormone (FSH) level \- Elevated luteinizing hormone (LH) level \- Low estradiol level \- Low inhibin B level \- Low anti-mullerian hormone (AMH) level MISCELLANEOUS \- Phenotypic variability, intrafamilial MOLECULAR BASIS \- Caused by mutation in the NOBOX oogenesis homeobox gene (NOBOX, 610934.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PREMATURE OVARIAN FAILURE 5 | c1969060 | 29,465 | omim | https://www.omim.org/entry/611548 | 2019-09-22T16:03:08 | {"mesh": ["C566921"], "omim": ["611548"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (October 2014) (Learn how and when to remove this template message)
Astrocytoma
Two PET images — the upper of which shows a normal brain and the lower shows astrocytoma.
SpecialtyOncology, neurosurgery
Astrocytomas are a type of brain tumor. They originate in a particular kind of glial cells, star-shaped brain cells in the cerebrum called astrocytes. This type of tumor does not usually spread outside the brain and spinal cord and it does not usually affect other organs. Astrocytomas are the most common glioma and can occur in most parts of the brain and occasionally in the spinal cord. Within the astrocytomas, two broad classes are recognized in literature, those with:
* Narrow zones of infiltration (mostly noninvasive tumors; e.g., pilocytic astrocytoma, subependymal giant cell astrocytoma, pleomorphic xanthoastrocytoma), that often are clearly outlined on diagnostic images
* Diffuse zones of infiltration (e.g., high-grade astrocytoma, anaplastic astrocytoma, glioblastoma), that share various features, including the ability to arise at any location in the central nervous system, but with a preference for the cerebral hemispheres; they occur usually in adults, and have an intrinsic tendency to progress to more advanced grades.[1]
People can develop astrocytomas at any age. The low-grade type is more often found in children or young adults, while the high-grade type is more prevalent in adults. Astrocytomas in the base of the brain are more common in young people and account for roughly 75% of neuroepithelial tumors.[citation needed]
## Contents
* 1 Pathophysiology
* 1.1 Molecular alterations
* 2 Diagnosis
* 2.1 Grading
* 3 Prevention
* 4 Treatment
* 5 Society and culture
* 5.1 Notable cases
* 6 References
* 7 External links
## Pathophysiology[edit]
Astrocytoma causes regional effects by compression, invasion, and destruction of brain parenchyma, arterial and venous hypoxia, competition for nutrients, release of metabolic end products (e.g., free radicals, altered electrolytes, neurotransmitters), and release and recruitment of cellular mediators (e.g., cytokines) that disrupt normal parenchymal function.[1] Secondary clinical sequelae may be caused by elevated intracranial pressure attributable to direct mass effect, increased blood volume, or increased cerebrospinal fluid volume.[1]
### Molecular alterations[edit]
A genome-wide pattern of DNA copy-number alterations (CNAs) has been uncovered, which is correlated with a patient’s survival and response to treatment. This pattern identifies among glioblastoma as well as lower-grade astrocytoma patients a subtype, where the CNA genotype is correlated with an approximately one-year survival phenotype.[2][3]
## Diagnosis[edit]
An X-ray computed tomography (CT) or magnetic resonance imaging (MRI) scan is necessary to characterize the extent of these tumors (size, location, consistency). CT will usually show distortion of third and lateral ventricles with displacement of anterior and middle cerebral arteries. Histologic analysis is necessary for grading diagnosis.
In the first stage of diagnosis the doctor will take a history of symptoms and perform a basic neurological exam, including an eye exam and tests of vision, balance, coordination and mental status. The doctor will then require a CT scan and MRI of the patient's brain. During a CT scan, X-rays of the patient's brain are taken from many different directions. These are then combined by a computer, producing a cross-sectional image of the brain. For an MRI, the patient relaxes in a tunnel-like instrument while the brain is subjected to changes of magnetic field. An image is produced based on the behavior of the brain's water molecules in response to the magnetic fields. A special dye may be injected into a vein before these scans to provide contrast and make tumors easier to identify.
If a tumor is found, a neurosurgeon must perform a biopsy on it. This simply involves the removal of a small amount of tumor tissue, which is then sent to a neuropathologist for examination and grading. The biopsy may take place before surgical removal of the tumor or the sample may be taken during surgery. Grading of the tumor sample is a method of classification that helps the doctor to determine the severity of the astrocytoma and to decide on the best treatment options. The neuropathologist grades the tumor by looking for atypical cells, the growth of new blood vessels, and for indicators of cell division called mitotic figures.
* Low grade astrocytoma of the midbrain (lamina tecti), sagittal T1-weighted magnetic resonance imaging after contrast medium administration: The tumor is marked with an arrow. The CSF spaces in front of the tumor are expanded due to compression-induced hydrocephalus internus.
* A pathological specimen of a gemistocytic astrocytoma
* MRI scans of an astrocytoma patient, showing tumor progression over the course of seven years
### Grading[edit]
Of numerous grading systems in use for the classification of tumor of the central nervous system, the World Health Organization (WHO) grading system is commonly used for astrocytoma. Established in 1993 in an effort to eliminate confusion regarding diagnoses, the WHO system established a four-tiered histologic grading guideline for astrocytomas that assigns a grade from 1 to 4, with 1 being the least aggressive and 4 being the most aggressive.
The WHO grading scheme is based on the appearance of certain characteristics: atypia, mitosis, endothelial proliferation, and necrosis. These features reflect the malignant potential of the tumor in terms of invasion and growth rate. Various types of astrocytomas are given these WHO grades:
WHO grade Astrocytomas Description
I
* Pilocytic astrocytoma
* Subependymal giant cell astrocytoma
* Subependymoma
Consist of slow growing astrocytomas, benign, and associated with long-term survival. Individuals with very slow growing tumors where complete surgical removal by stereotactic surgery is possible may experience total remission.[4] Even if the surgeon is not able to remove the entire tumor, it may remain inactive or be successfully treated with radiation.
II
* Low-grade (fibrillary) astrocytoma
* Pleomorphic xanthoastrocytoma
* Mixed oligoastrocytoma
Consist of relatively slow-growing astrocytomas, usually considered benign that sometimes evolve into more malignant or as highergrade tumors. They are prevalent in younger people who often present with seizures. Median survival varies with the cell type of the tumor. Grade 2 astrocytomas are defined as being invasive gliomas, meaning that the tumor cells penetrate into the surrounding normal brain, making a surgical cure more difficult. People with oligodendrogliomas (which might share common cells of origin[5]) have better prognoses than those with mixed oligoastrocytomas, who in turn have better prognoses than patients with (pure) low-grade astrocytomas. Other factors which influence survival include age (younger the better) and performance status (ability to perform tasks of daily living). Due to the infiltrative nature of these tumors, recurrences are relatively common. Depending on the patient, radiation or chemotherapy after surgery is an option. Individuals with grade 2 astrocytoma have a 5-year survival rate of about 34% without treatment and about 70% with radiation therapy.[4] The median survival time is 4 years.[4]
III Anaplastic astrocytoma Consist of anaplastic astrocytomas. It is often related to seizures, neurologic deficits, headaches, or changes in mental status. The standard initial treatment is to remove as much of the tumor as possible without worsening neurologic deficits. Radiation therapy has been shown to prolong survival and is a standard component of treatment. Individuals with grade 3 astrocytoma have a median survival time of 18 months without treatment (radiation and chemotherapy).[4] There is no proven benefit to adjuvant chemotherapy or supplementing other treatments for this kind of tumor. Although temozolomide is effective for treating recurrent anaplastic astrocytoma, its role as an adjuvant to radiation therapy has not been fully tested.
IV Glioblastoma multiforme (GBM) Consists of Glioblastoma multiforme (GBM), which is the most common and most malignant primary brain tumor. Primary GBM grow and spread to other parts of the brain quickly; they can become very large before producing symptoms, which often begin abruptly with seizures.[6] Less than 10% form more slowly following degeneration of low-grade astrocytoma or anaplastic astrocytoma. These are called secondary GBM and are more common in younger patients (mean age 45 versus 62 years).[5] "Surgical removal remains the mainstay of treatment, provided that unacceptable neurologic injury can be avoided. The extremely infiltrative nature of this tumor makes complete surgical removal impossible. Although radiotherapy rarely cures glioblastoma, studies show that it doubles the median survival of patients, compared to supportive care alone."[6] The prognosis is worst for these grade 4 gliomas. Few patients survive beyond 3 years. Individuals with grade 4 astrocytoma have a median survival time of 17[4] weeks without treatment, 30[4] weeks with radiation, and 37[4] weeks with surgical removal of most of the tumor followed by radiation therapy. Long-term survival (at least five years) falls well under 3%.[7][8]
According to the WHO data the lowest grade astrocytomas (grade I) make up only 2% of recorded astrocytomas, grade II 8%, and the higher grade anaplastic astrocytomas (grade III) 20%. The highest graded astrocytoma (grade IV GBM) is the most common primary nervous system cancer and second most frequent brain tumor after brain metastasis. Despite the low incidence of astrocytomas compared to other human cancers, mortality is significant, as the higher grades (III & IV) present high mortality rates (mainly due to late detection of the neoplasm).
## Prevention[edit]
There are no precise guidelines because the exact cause of astrocytoma is not known.
## Treatment[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2015) (Learn how and when to remove this template message)
For low-grade astrocytomas, removal of the tumor generally allows functional survival for many years. In some reports, the 5-year survival has been over 90% with well-resected tumors. Indeed, broad intervention of low-grade conditions is a contested matter. In particular, pilocytic astrocytomas are commonly indolent bodies that may permit normal neurologic function. However, left unattended, these tumors may eventually undergo neoplastic transformation. To date, complete resection of high-grade astrocytomas is impossible because of the diffuse infiltration of tumor cells into normal parenchyma. Thus, high-grade astrocytomas inevitably recur after initial surgery or therapy, and are usually treated similarly as the initial tumor. Despite decades of therapeutic research, curative intervention is still nonexistent for high-grade astrocytomas; patient care ultimately focuses on palliative management.
## Society and culture[edit]
### Notable cases[edit]
In March 1990, prolific United States Republican Party political strategist Lee Atwater was diagnosed with astrocytoma after a tumor was found in his right parietal lobe. After undergoing radiation therapy (including the then-new implant radiation treatment), Atwater died the following year at the age of 40.[9]
Long-time U.S. Senator Ted Kennedy (D-MA) died of malignant glioma.[10]
University of Texas sniper Charles Whitman who killed multiple people during a mass murder event in 1966 was diagnosed with astrocytoma post-mortem. The Connally Commission investigating the shooting concluded the tumor "conceivably could have contributed to his inability to control his emotions and actions".[11]
Dan Quisenberry (Major League pitcher) was diagnosed with grade IV astrocytoma in January 1998. He died in 1998 in Leawood, Kansas.[12]
Richard Burns, winner of the 2001 World Rally Championship, was diagnosed with astrocytoma in 2003. Four years to the day after winning the World Rally Championship, on 25 November 2005, Burns died in Westminster, London,[13] aged 34, after having been in a coma for some days as a result of his brain tumour.[14]
Brittany Maynard, a UC Berkeley graduate and advocate for Death With Dignity, died November 19, 2014, aged 29, being assisted with self-delivery, having been diagnosed and battled glioblastoma.
Professional wrestler Matt Cappotelli was diagnosed with a grade 2/3 astrocytoma in December 2005, scuttling plans to promote Cappottelli to the main WWE roster. Cappotelli, who won a contract with WWE through the third season of their reality program Tough Enough, was the Ohio Valley Wrestling Heavyweight Champion at the time of his diagnosis and vacated the title in February 2006[15] after confirming the tumor was cancerous. Cappotelli underwent successful surgery and chemotherapy,[16][17][18] but was unable to return to active wrestling work. He did return to OVW as a trainer in 2013.[19][20] He died on June 29, 2018.[21]
Senator John McCain (R-AZ) announced on July 20, 2017 that he had been diagnosed with glioblastoma.[22] Senator McCain succumbed to the disease August 25, 2018, 4 days before his 82nd birthday, at his ranch near Sedona, AZ.
## References[edit]
1. ^ a b c Astrocytoma at eMedicine
2. ^ C. H. Lee*; B. O. Alpert*; P. Sankaranarayanan; O. Alter (January 2012). "GSVD Comparison of Patient-Matched Normal and Tumor aCGH Profiles Reveals Global Copy-Number Alterations Predicting Glioblastoma Multiforme Survival". PLOS ONE. 7 (1): e30098. doi:10.1371/journal.pone.0030098. PMC 3264559. PMID 22291905. Highlight.
3. ^ S. P. Ponnapalli, et int.; O. Alter (May 2020). "Retrospective Clinical Trial Experimentally Validates Glioblastoma Genome-Wide Pattern of DNA Copy-Number Alterations Predictor of Survival". APL Bioeng. 4 (2): 026106. doi:10.1063/1.5142559. PMC 7229984. PMID 32478280. Press Release.
4. ^ a b c d e f g mdguidelines.com > Astrocytoma Retrieved on Mars 26, 2010
5. ^ a b Ohgaki, Hiroko; Kleihues, Paul (2009). "Genetic alterations and signaling pathways in the evolution of gliomas". Cancer Science. 100 (12): 2235–41. doi:10.1111/j.1349-7006.2009.01308.x. PMID 19737147.
6. ^ a b quoted from http://www.mayoclinic.org/glioma/glioblastoma.html[full citation needed]
7. ^ Buckner, Jan C.; Brown, Paul D.; O'Neill, Brian P.; Meyer, Fredric B.; Wetmore, Cynthia J.; Uhm, Joon H. (2007). "Central Nervous System Tumors". Mayo Clinic Proceedings. 82 (10): 1271–86. doi:10.4065/82.10.1271. PMID 17908533.
8. ^ Central Brain Tumor Registry of the United States, http://www.cbtrus.org/
9. ^ Brady, John (December 1, 1996). "I'm Still Lee Atwater", The Washington Post, retrieved 2010-04-11.
10. ^ "Kennedy fought aggressive cancer". CNN. August 26, 2009. Retrieved 2010-02-27.
11. ^ Waring, Thomas R., ed. "Jury Blames Tumor For Killings: Doctor Says Whitman Unaffected"" The News and Courier [Charleston] 05 Aug. 1966: 9B. Print.
12. ^ Henderson, Heather (1999). "Dan Quisenberry - In His Own Words" The 1999 Big Bad Baseball Annual. Retrieved June 24, 2013.
13. ^ Deaths England and Wales 1984–2006
14. ^ "Former world champion Burns dies". bbc.co.uk. 26 November 2005. Retrieved 25 February 2008.
15. ^ Brady, Hicks. "2006: The year in wrestling". PWI Presents: 2007 Wrestling Almanac and book of facts. Kappa Publications. p. 17. 2007 Edition.
16. ^ Dee, Louie (2007-04-06). "Matt Cappotelli to undergo brain surgery". WWE.
17. ^ "Cappotelli undergoes surgery". World Wrestling Entertainment. 2007-05-01. Retrieved 2015-08-26.
18. ^ "Cappotelli recovering well". World Wrestling Entertainment. 2007-05-09.
19. ^ "Helping wrestlers get a grip". The Courier-Journal. Louisville, KY. 2013-11-12. Retrieved 2015-08-26.
20. ^ "Matt Cappotelli Beginner's Program". Ohio Valley Wrestling. Archived from the original on 2015-08-20. Retrieved 2015-08-26.
21. ^ Xu, Linda (June 29, 2018). "Matt Cappotelli, Former WWE Wrestler and 'Tough Enough' Winner, Dies at 38". TheWrap. Retrieved June 29, 2018.
22. ^ John McCain has brain cancer, his office says
Bibliography
* "Types of Cancer Teens Get." KidsHealth - the Web's most visited site about children's health. Web. 07 Dec. 2009. [1].
* "Astrocytoma - Diagnosis and Treatment Options at Mayo Clinic." Mayo Clinic: Medical Treatment and Research Centers. Web. 07 Dec. 2009. [2].
* "Glioblastoma Multiforme Treatment at Mayo Clinic." Mayo Clinic: Medical Treatment and Research Centers. Web. 07 Dec. 2009. [3].
* "The new WHO Classification of Tumors affecting the Central Nervous System" by Stephen B. Tatter, M.D., Ph.D.; MGH [4]
## External links[edit]
Classification
D
* ICD-10: C71
* ICD-9-CM: 191
* ICD-O: M9400/3
* OMIM: 137800
* MeSH: D001254
* DiseasesDB: 29449
External resources
* eMedicine: med/2693
* Cancer.Net: Astrocytoma, Childhood
* Imaging Astrocytoma MR, CT, Pathology
* v
* t
* e
Tumours of the nervous system
Endocrine
Sellar:
* Craniopharyngioma
* Pituicytoma
Other:
* Pinealoma
CNS
Neuroepithelial
(brain tumors,
spinal tumors)
Glioma
Astrocyte
* Astrocytoma
* Pilocytic astrocytoma
* Pleomorphic xanthoastrocytoma
* Subependymal giant cell astrocytoma
* Fibrillary astrocytoma
* Anaplastic astrocytoma
* Glioblastoma multiforme
Oligodendrocyte
* Oligodendroglioma
* Anaplastic oligodendroglioma
Ependyma
* Ependymoma
* Subependymoma
Choroid plexus
* Choroid plexus tumor
* Choroid plexus papilloma
* Choroid plexus carcinoma
Multiple/unknown
* Oligoastrocytoma
* Gliomatosis cerebri
* Gliosarcoma
Mature
neuron
* Ganglioneuroma: Ganglioglioma
* Retinoblastoma
* Neurocytoma
* Dysembryoplastic neuroepithelial tumour
* Lhermitte–Duclos disease
PNET
* Neuroblastoma
* Esthesioneuroblastoma
* Ganglioneuroblastoma
* Medulloblastoma
* Atypical teratoid rhabdoid tumor
Primitive
* Medulloepithelioma
Meninges
* Meningioma
* Hemangiopericytoma
Hematopoietic
* Primary central nervous system lymphoma
PNS:
* Nerve sheath tumor
* Cranial and paraspinal nerves
* Neurofibroma
* Neurofibromatosis
* Neurilemmoma/Schwannoma
* Acoustic neuroma
* Malignant peripheral nerve sheath tumor
Other
* WHO classification of the tumors of the central nervous system
Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Astrocytoma | c0004114 | 29,466 | wikipedia | https://en.wikipedia.org/wiki/Astrocytoma | 2021-01-18T18:45:22 | {"mesh": ["D001254"], "umls": ["C0750935", "C0004114"], "icd-9": ["191"], "icd-10": ["C71"], "orphanet": ["94"], "wikidata": ["Q177755"]} |
A number sign (#) is used with this entry because benign recurrent intrahepatic cholestasis-2 (BRIC2) is caused by mutation in the ABCB11 gene (603201), also known as the bile salt export pump (BSEP), on chromosome 2q31.
For a discussion of genetic heterogeneity of BRIC, see 243300.
Description
Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004).
Clinical Features
Van Mil et al. (2004) reported clinical features of 11 patients from 8 families with BRIC2 confirmed by genetic analysis. Inheritance followed an autosomal recessive pattern. Age at onset ranged from 2 months to 24 years. The most common features were hepatosplenomegaly and cholelithiasis. In general, liver biopsies showed cholestasis without fibrosis, although mild fibrosis was seen in some patients. Cholestasis sometimes was associated with swelling and degeneration of hepatocytes. Serum bile acids were increased during episodes. Patients in 3 families developed permanent cholestasis later in life. Precipitating factors included viral infections and pregnancy.
Noe et al. (2005) reported a 16-year-old boy who presented with a history of intermittent episodes of pruritus and steatorrhea for several years. Cholestatic episodes were reportedly triggered by infections or intake of certain medications. Laboratory studies showed increased serum alkaline phosphatase and bilirubin with normal gamma-GGT (612346). Liver biopsy showed mild hepatocellular and canalicular cholestasis without portal fibrosis. Immunohistochemical studies showed expression of the BSEP protein in the canalicular membrane of hepatocytes.
Molecular Genetics
Van Mil et al. (2004) identified 8 different mutations in the ABCB11 gene (see, e.g., 603201.0002) in 11 patients from 8 families with BRIC2. Homozygous and compound heterozygous mutations were identified in 7 patients and 3 patients, respectively. One patient had only a heterozygous mutation.
In a 16-year-old boy with BRIC2, Noe et al. (2005) identified compound heterozygosity for 2 mutations in the ABCB11 gene (603201.0002; 603201.0006). Each unaffected parent was heterozygous for 1 of the mutations. In vitro functional expression studies showed that the mutant proteins retained residual activity.
INHERITANCE \- Autosomal recessive ABDOMEN Liver \- Intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life \- Jaundice, episodic \- Hepatomegaly \- Cholelithiasis \- Mild fibrosis (some), shown on biopsy \- Progression to end-stage liver disease does not occur SKIN, NAILS, & HAIR Skin \- Jaundice, episodic \- Pruritus, episodic LABORATORY ABNORMALITIES \- Normal or mildly increased serum gamma-GGT ( 231950 ) \- Conjugated hyperbilirubinemia \- Increased alkaline phosphatase \- Increased serum bile acids MISCELLANEOUS \- Onset in first 2 decades \- Disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis \- Precipitating factors include viral illness and pregnancy \- Allelic disorder to progressive familial intrahepatic cholestasis-2 (PFIC2, 601847 ) MOLECULAR BASIS \- Caused by mutation in the ATP-binding cassette, subfamily B, member 11 gene (ABCB11, 603201.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 | c3489789 | 29,467 | omim | https://www.omim.org/entry/605479 | 2019-09-22T16:11:18 | {"doid": ["0070232"], "mesh": ["C535934"], "omim": ["605479"], "orphanet": ["99961", "65682"]} |
X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
## Epidemiology
It has been described in four males from one family.
## Etiology
The syndrome is mapped to the Xq25-q26 region of the X-chromosome.
## Genetic counseling
The syndrome was transmitted in an X-linked recessive manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked intellectual disability, Cilliers type | None | 29,468 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163971 | 2021-01-23T19:11:40 | {"icd-10": ["Q87.8"], "synonyms": ["X-linked intellectual disability-microcephaly-testicular failure syndrome"]} |
A number sign (#) is used with this entry because moyamoya disease-6 with or without achalasia (MYMY6) is caused by homozygous or compound heterozygous mutation in the GUCY1A3 gene (139396) on chromosome 4q32.
Description
Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Clinical Features
Herve et al. (2014) reported 9 patients from 3 consanguineous families with a disorder characterized by early-onset severe achalasia and an angiopathy consistent with moyamoya disease. One family was from a remote area of Algeria, and detailed clinical information was only available for 2 of 5 affected sibs. The severity of the disorder was variable. The most severely affected individuals had onset of achalasia in the first days of life followed by ischemic strokes in early childhood that resulted in hemiparesis and disability. One patient had seizures. Brain imaging in these patients showed ischemic lesions and features of moyamoya with occlusion of the terminal bifurcations of the internal carotid artery, as well as intracranial arterial sclerosis. The less severely affected patients had onset of achalasia in early childhood and normal brain imaging without neurologic signs. However, these patients tended to have other vascular abnormalities, including Raynaud phenomenon, livedo reticularis, and hypertension, and 1 of them had an episode of malignant hypertension complicated by retinopathy and optic neuropathy. One young man had erectile dysfunction. None of the patients had a clinical history of abnormal bleeding.
Wallace et al. (2016) reported 2 unrelated patients of European descent with molecularly characterized MYMY6. One patient presented at age 18 years with an ischemic stroke and visual field changes, with findings of moyamoya disease on cerebral angiogram. His medical history also included achalasia diagnosed at age 4 years, gastroesophageal reflux disease, and hypertension. The other patient was a 3-year-old girl who had a severe right hemisphere stroke at 20 months of age. Magnetic resonance and cerebral angiograms revealed moyamoya disease. She also had hypertension and mild enlargement of her ascending aorta, but achalasia was not diagnosed by age 3 years, suggesting that achalasia might not be seen in all patients.
Inheritance
The transmission pattern of moyamoya disease with achalasia in the families reported by Herve et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected members of 3 consanguineous families with moyamoya disease-6 with achalasia, Herve et al. (2014) identified 3 different homozygous truncating mutations in the GUCY1A3 gene (139396.0001-139396.0003). The mutations in the first 2 families were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies in platelets from patients in 1 family indicated a loss of function of the soluble guanylate cyclase pathway. Herve et al. (2014) hypothesized that disruption of the nitric oxide (NO)/guanylate cyclase receptor/cGMP pathway may lead to abnormal vascular remodeling at sensitive sites with disrupted laminar flow, such as the bifurcation of the internal carotid arteries. The achalasia may have resulted from failure of the NO signaling pathway to relax the lower esophageal sphincter.
By exome sequencing of 96 probands with moyamoya disease from families of European descent, Wallace et al. (2016) identified 2 patients with compound heterozygous, loss-of-function mutations in the GUCY1A3 gene (139396.0004-139396.0007). In both patients, one allele was predicted to lead to haploinsufficiency, and the other was predicted to produce a mutated protein. One patient also had achalasia and hypertension, whereas the other patient had hypertension but no diagnosis of achalasia by age 3 years. Wallace et al. (2016) suggested that GUCY1A3 mutations might be responsible for up to 2% of moyamoya disease among patients of European background.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Vascular \- Moyamoya disease \- Stenosis of the intracranial arteries \- Ischemic stroke (in some patients) \- Hypertension (in some patients) \- Raynaud phenomenon (in some patients) ABDOMEN Gastrointestinal \- Achalasia \- Dysphagia GENITOURINARY External Genitalia (Male) \- Erectile dysfunction SKIN, NAILS, & HAIR Skin \- Livedo reticularis (1 patient) \- Raynaud phenomenon (in some patients) NEUROLOGIC Central Nervous System \- Ischemic stroke (in some patients) \- Hemiparesis (in some patients) \- Seizures (1 patient) MISCELLANEOUS \- Onset of achalasia in infancy or early childhood \- Some patients do not develop stroke \- Variable severity MOLECULAR BASIS \- Caused by mutation in the soluble guanylate cyclase 1, alpha 3 gene (GUCY1A3, 139396.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA | c3810403 | 29,469 | omim | https://www.omim.org/entry/615750 | 2019-09-22T15:51:04 | {"doid": ["13099"], "omim": ["615750"], "orphanet": ["401945"], "synonyms": []} |
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Autosomal dominant Charcot-Marie-Tooth disease type 2U | c4084821 | 29,470 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397735 | 2021-01-23T17:26:20 | {"omim": ["616280"], "icd-10": ["G60.0"], "synonyms": ["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation", "CMT2U"]} |
Young's syndrome
Other namesAzoospermia sinopulmonary infections
Young's syndrome is inherited in an autosomal recessive manner
Young's syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and Barry-Perkins-Young syndrome, is a rare condition that encompasses a combination of syndromes such as bronchiectasis, rhinosinusitis and reduced male fertility.[1][2][3] In individuals with this syndrome the functioning of the lungs is usually normal but the mucus is abnormally viscous. The reduced fertility (obstructive azoospermia) is due to functional obstruction of sperm transport down the genital tract at the epididymis, where the sperm is found in viscous, lipid-rich fluid.[3][4] The syndrome was named after Donald Young,[5] the urologist who first made observations of the clinical signs of the syndrome in 1972.[6]
## See also[edit]
* Infertility
* Cystic fibrosis
## References[edit]
1. ^ Handelsman DJ, Conway AJ, Boylan LM, Turtle JR (January 1984). "Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections". N. Engl. J. Med. 310 (1): 3–9. doi:10.1056/NEJM198401053100102. PMID 6689737.
2. ^ Young syndrome at NIH's Office of Rare Diseases
3. ^ a b Young's syndrome - General Practice Notebook
4. ^ Definition: Young syndrome from Online Medical Dictionary
5. ^ Young, M (January 2003). "Obituary of Donald Herron Young". BMJ. 326 (7382): 226. doi:10.1136/bmj.326.7382.226/g. PMC 1125087.
6. ^ Online Mendelian Inheritance in Man (OMIM): Young syndrome - 279000
* Lau KY, Lieberman J (June 1986). "Young's syndrome. An association between male sterility and bronchiectasis". West. J. Med. 144 (6): 744–6. PMC 1306774. PMID 3727536.
## External links[edit]
Classification
D
* ICD-10: Majorminor.LinkGroup
* ICD-9-CM: xxx
* OMIM: 279000
* MeSH: C536718
* DiseasesDB: 14241
External resources
* Orphanet: 3471
This article about a medical condition affecting the respiratory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Young's syndrome | c0340037 | 29,471 | wikipedia | https://en.wikipedia.org/wiki/Young%27s_syndrome | 2021-01-18T18:53:52 | {"gard": ["341"], "mesh": ["C536718"], "umls": ["C0340037"], "orphanet": ["3471"], "wikidata": ["Q1143515"]} |
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.
Mapping
Giedraitis et al. (2006) conducted a genome scan with 369 microsatellite markers in 12 extended families collected in Sweden. Age at disease onset ranged from 53 to 78 years, but in 10 of the families there was at least 1 member with age at onset of less than 65 years. Mutations in known early-onset Alzheimer disease susceptibility genes were excluded. All persons were genotyped for APOE (107741), but no clear linkage with the E4 allele was observed. Although no common disease locus could be found in all families, in 2 families an extended haplotype was identified on chromosome 8q shared by all affected members. In one of the families, nonparametric multimarker logarithm of the odds (lod) score of 4.2 (p = 0.004) was obtained. All 6 affected members of this family shared a haplotype of 10 markers spanning about 40 cM. The marker with the highest score was D8S1119. In another family, 3 affected members shared a haplotype in the same region. Giedraitis et al. (2006) proposed the existence of a dominantly acting Alzheimer disease susceptibility locus on chromosome 8p12-q22.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ALZHEIMER DISEASE 12 | c0276496 | 29,472 | omim | https://www.omim.org/entry/611073 | 2019-09-22T16:03:40 | {"doid": ["0110045"], "mesh": ["D000544"], "omim": ["611073"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "AD12", "ALZHEIMER DISEASE, FAMILIAL, 12"]} |
Condition in which bones are abnormally hardened, with elevated density
Osteosclerosis
Sclerosis of the bones of the pelvis due to prostate cancer metastases
SpecialtyMedical genetics
Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone. Plain radiographs are a valuable tool for detecting and classifying osteosclerotic disorders.[1][2] It can manifest in localized or generalized osteosclerosis. Localized osteosclerosis can be caused by Legg–Calvé–Perthes disease, sickle-cell disease and osteoarthritis among others. Osteosclerosis can be classified in accordance with the causative factor into acquired and hereditary.[2][1]
## Contents
* 1 Types
* 1.1 Acquired osteosclerosis
* 1.2 Hereditary osteosclerosis
* 2 Diagnosis
* 3 Animals
* 4 See also
* 5 References
* 6 External links
## Types[edit]
### Acquired osteosclerosis[edit]
* Osteogenic bone metastasis caused by carcinoma of prostate and breast
* Paget's disease of bone
* Myelofibrosis (primary disorder or secondary to intoxication or malignancy)
* Osteosclerosing types of chronic osteomyelitis
* Hypervitaminosis D
* hypoparathyroidism
* Schnitzler syndrome[3]
Skeletal fluorosis
* Monoclonal IgM Kappa cryoglobulinemia[4]
* Hepatitis C.[5]
### Hereditary osteosclerosis[edit]
* Malignant infantile osteopetrosis[6]
* Neuropathic infantile osteopetrosis
* Infantile osteopetrosis with renal tubular acidosis
* Infantile osteopetrosis with immunodeficiency
* IO with leukocyte adhesion deficiency syndrome (LAD-III)
* Intermediate osteopetrosis
* Autosomal dominant osteopetrosis (Albers-Schonberg)
* Pyknodysostosis (osteopetrosis acro-osteolytica)[2]
* Osteopoikilosis (Buschke–Ollendorff syndrome)[2]
* Osteopathia striata with cranial sclerosis[2]
* Mixed sclerosing bone dysplasia
* Progressive diaphyseal dysplasia (Camurati–Engelmann disease)[2]
* SOST-related sclerosing bone dysplasias
* Sclerosis of the bones of the thoracic spine due to prostate cancer metastases (CT image)
* Sclerosis of the bones of the thoracic spine due to prostate cancer metastases (CT image)
## Diagnosis[edit]
Osteosclerosis can be detected with a simple radiography. There are white portions of the bone which appear due to the increased number of bone trabeculae.[citation needed]
## Animals[edit]
In the animal kingdom, there also exists a non-pathological form of osteosclerosis, resulting in unusually solid bone structure with little to no marrow. It is often seen in aquatic vertebrates, especially those living in shallow waters,[7] providing ballast as an adaptation for an aquatic lifestyle. It makes bones heavier, but also more fragile. In those animal groups, osteosclerosis often occurs together with bone thickening (pachyostosis). This joint occurrence is called pachyosteosclerosis.[citation needed]
## See also[edit]
* Pachyostosis
* Pachyosteosclerosis
* Heinrich Albers-Schönberg
## References[edit]
1. ^ a b EL-Sobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF (2016). "A case of infantile osteopetrosis: The radioclinical features with literature update". Bone Rep. 4: 11–16. doi:10.1016/j.bonr.2015.11.002. PMC 4926827. PMID 28326337.CS1 maint: multiple names: authors list (link)
2. ^ a b c d e f Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA; et al. (2011). "Sclerosing bone dysplasias: Review and differentiation from other causes of osteosclerosis". RadioGraphics. 31 (7): 1865–82. doi:10.1148/rg.317115093. PMID 22084176.CS1 maint: multiple names: authors list (link)
3. ^ Niederhauser, BD; Dingli, D; Kyle, RA; Ringler, MD (July 2014). "Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the "hot knees" sign differential diagnosis". Skeletal Radiology. 43 (7): 905–15. doi:10.1007/s00256-014-1857-y. PMID 24652142. S2CID 1597002.
4. ^ Soubrier, M; Dubost, JJ; Jouanel, P; Tridon, A; Flori, B; Leguille, C; Ristori, JM; Bussière, JL (1994). "[Multiple complications of monoclonal IgM]". La Revue de Médecine Interne. 15 (7): 484–6. doi:10.1016/s0248-8663(05)81474-2. PMID 7938961.
5. ^ Fiore CE, Riccobene S, Mangiafico R, Santoro F, Pennisi P (2005). "Hepatitis C-associated osteosclerosis (HCAO): report of a new case with involvement of the OPG/RANKL system" (PDF). Osteoporos Int. 16 (12): 2180–4. doi:10.1007/s00198-005-1858-8. PMID 15983730. S2CID 39008572.
6. ^ EL-Sobky TA, El-Haddad A, Elsobky E, Elsayed SM, Sakr HM (2017). "Reversal of skeletal radiographic pathology in a case of malignant infantile osteopetrosis following hematopoietic stem cell transplantation". Egypt J Radiol Nucl Med. 48 (1): 237–43. doi:10.1016/j.ejrnm.2016.12.013.CS1 maint: multiple names: authors list (link)
7. ^ Houssaye, A. (2009). "Pachyostosis" in aquatic amniotes: a review. Integrative Zoology 4(4): 325-340.
## External links[edit]
Classification
D
* ICD-10: M85.8, Q77.4
* ICD-9-CM: 756.52
* MeSH: D010026
* DiseasesDB: 15823
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner disease
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Osteosclerosis | c0029464 | 29,473 | wikipedia | https://en.wikipedia.org/wiki/Osteosclerosis | 2021-01-18T18:56:23 | {"mesh": ["D010026"], "umls": ["C0029464"], "icd-9": ["756.52"], "wikidata": ["Q1233526"]} |
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital axonal neuropathy with encephalopathy | None | 29,474 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538101 | 2021-01-23T17:10:00 | {"icd-10": ["G60.0"]} |
A number sign (#) is used with this entry because primary microcephaly-5 (MCPH5) is caused by homozygous or compound heterozygous mutation in the ASPM gene (605481) on chromosome 1q31.
Description
Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (251200).
Clinical Features
Pattison et al. (2000) performed DNA analysis on 3 living individuals in separate sibships related as cousins in a consanguineous Pakistani family with primary microcephaly showing linkage to chromosome 1q31. All were microcephalic from birth with head circumferences between -5 and -7 SD from the norm when they were examined at ages 4, 7, and 28 years. All had moderate mental retardation with no apparent diminution of abilities with age. They were all in good health and not dysmorphic; with the exception of minor language delay, they had normal developmental milestones. All were affable, followed instructions well, and had learned good self-help skills. The parents had normal intelligence and head circumference.
Shen et al. (2005) identified homozygosity for a mutation in the ASPM gene (605481.0008) in 3 sibs with primary microcephaly from a consanguineous family from Saudi Arabia. Two of the sibs had frequent seizures and the other had no seizures. Shen et al. (2005) suggested that a history of seizures should not preclude the diagnosis of primary microcephaly.
Desir et al. (2008) reported a girl, born of consanguineous Moroccan parents, with microcephaly (-3.5 SD), delayed language, and 2 seizure episodes at age 4 years. Brain MRI showed a simplified gyral pattern, more severe in the frontal lobes, with decreasing severity toward the parietal and temporal regions. At age 6, she had hyperactivity and an IQ of 50. Fetal sonography of a second pregnancy in this family showed recurrence of microcephaly. Fetal brain MRI at 30 weeks' gestation showed decreased cortical gyri in an anterior to posterior gradient. The frontal lobes were small and squared off.
Saadi et al. (2009) reported a consanguineous Algerian family in which 3 of 5 sibs had primary microcephaly. All had low to low-normal birth weight, variable speech impairment, and mental retardation. Brain MRI showed severe hypoplasia of the frontal lobes, moderate posterior parietal atrophy, an anterior orientation of the insula, a thick corpus callosum, and global gyral simplification. Despite the parental consanguinity, genetic analysis identified compound heterozygous mutations in the ASPM gene (605481.0010 and 605481.0011).
Passemard et al. (2009) reported 11 probands and 5 sibs with MCPH5 confirmed by genetic analysis. Microcephaly was severe after age 1 year of age in all 16 patients, although 4 patients had OFC that were only 2 SD below the mean at birth. All had borderline-normal to severe mental retardation and delayed speech development. Other clinical features included late-onset seizures in 3 patients and pyramidal tract involvement in 1. Seven patients had mild motor delay. Among 12 patients with brain MRI, 9 had a simplified gyral pattern, 7 had enlarged ventricles, 3 had partial agenesis of the corpus callosum, 1 had mild cerebellar hypoplasia, 1 had focal cortical dysplasia, and 1 had unilateral polymicrogyria. Passemard et al. (2009) noted that the phenotype in their patients was more heterogeneous than previously described: some patients had low-normal OFC at birth followed by a decrease with age, and some had IQ values in the 70 to 80 range. The gradual OFC decline noted in the study had not been highlighted previously. Brain MRI indicated that microcephaly with simplified gyration (603802) may be part of the ASPM phenotypic spectrum. In addition, the study showed for the first time that loss of ASPM function can be associated with cortical defects. Cortical dysgenesis has not been reported previously in MCPH, possibly because this finding would have led to patient exclusion. These findings significantly expanded the phenotype associated with mutations in the ASPM gene.
Darvish et al. (2010) found that affected members of 3 consanguineous Iranian families with MCPH5 due to ASPM nonsense mutations also had short stature; congenital hearing loss was an additional feature in 1 of these families.
Abdel-Hamid et al. (2016) reported 21 patients from 15 unrelated Egyptian families with MCPH5 confirmed by genetic analysis. The patients had a small head (-3.6 to -12 SD) with bitemporal narrowing, as well prominent eyes, arched eyebrows, and a prominent glabella. These facial features became more subtle with age. Brain imaging showed small frontal lobe and simplified gyral pattern in all patients, but with variable severity. Other common features included hypoplasia of the corpus callosum (85.7%), enlarged ventricles (90.5%), small pons (61.9%), and small cerebellar vermis (47.6%). Five patients had short stature, 4 had growth retardation, and 2 had seizures.
Inheritance
The transmission pattern of MCPH5 in the families reported by Abdel-Hamid et al. (2016) was consistent with autosomal recessive inheritance.
Cytogenetics
Perez-Castillo et al. (1984) suggested that true microcephaly may result from a mutation at the 1q31-q32 junction. They observed microcephaly in a proband with a reciprocal translocation between 1q and 4p. The mother and other maternal relatives over at least 4 generations had the rearrangement. They suggested that the father was heterozygous for a microcephaly mutation at a locus corresponding to the breakpoint in chromosome 1, giving rise to the rearrangement. Their reason for selecting chromosome 1 rather than 4 as the site of the abnormality was the observation of Ferguson-Smith (1981), reported as a personal communication in the 1983 edition of Mendelian Inheritance in Man, of a child with severe microcephaly and deletion of 1q25-q32 whose parents were normal and unrelated.
Although the microcephalic proband reported by Perez-Castillo et al. (1984) had been lost to follow-up, Pichon et al. (2004) reexamined the translocation breakpoint in this family by sampling a maternal aunt who carried the apparently balanced t(1;4)(q31;p15.3) translocation. By FISH analyses, Pichon et al. (2004) located the translocation breakpoint within intron 17 of the ASPM gene, which results in a predicted protein truncated of more than half of the primary sequence. The authors noted that the translocation segregated in at least 5 asymptomatic subjects over 3 generations, consistent with recessivity and indicative of a mutation in the paternal allele of the proband. Pichon et al. (2004) stated that this was the second example of an autosomal recessive disease associated with gene disruption by a reciprocal translocation.
Mapping
In a family of Turkish origin, Jamieson et al. (2000) used homozygosity mapping to assign a locus for autosomal recessive primary microcephaly, MCPH5, to chromosome 1q25-q32. The maximum multipoint lod score was 3.51 at marker D1S1723. The minimal critical region spanned 11.4 cM between markers D1S384 and D1S2655, and encompassed the cytogenetic breakpoint in chromosomal aberrations previously reported in unrelated patients with microcephaly.
Simultaneously and independently, in a consanguineous Pakistani family, Pattison et al. (2000) determined by linkage mapping that an MCPH locus is located on chromosome 1q31.
Molecular Genetics
In each of 4 consanguineous northern Pakistani families with primary microcephaly, Bond et al. (2002) identified a homozygous mutation introducing a premature stop codon into the predicted ASPM open reading frame (605481.0001-605481.0004). Bond et al. (2002) were unable to distinguish phenotypically between the 4 families in which these mutations were found.
Bond et al. (2003) performed a comprehensive mutation screen of the ASPM gene and identified 19 mutations in a cohort of 23 consanguineous families. The mutations occurred throughout the gene and were all predicted to be protein truncating. Phenotypic variation in the 51 affected individuals occurred in the degree of microcephaly (5 to 11 SDs below normal) and of mental retardation (mild to severe) but appeared to be independent of mutation position in the gene.
MCPH5 accounted for 43% (24 of 56) of MCPH families in the northern Pakistani population studied by Roberts et al. (1999, 2002).
Gul et al. (2006) identified 6 different mutations in the ASPM gene in affected members of 9 unrelated consanguineous Pakistani families with MCPH.
In 2 sibs, born of consanguineous Moroccan parents, with MCPH5 and simplified gyral pattern on brain MRI, Desir et al. (2008) identified a homozygous truncating mutation in the ASPM gene (605481.0009). The data indicated that at least 1 form of primary microcephaly is allelic to a form of microcephaly with simplified gyral pattern (603802). However, Desir et al. (2008) noted that prenatal and postnatal brain imaging of patients with microcephaly has rarely been reported, suggesting that the 2 disorders may actually represent a phenotypic continuum.
Nicholas et al. (2009) sequenced the ASPM gene in 3 cohorts of microcephalic children. Pathogenic ASPM mutations were identified in 39% of 99 consanguineous MCPH families, and in 11 (40%) of 27 nonconsanguineous predominantly Caucasian families with a strict diagnosis of MCPH. In contrast, only 3 (7%) of 45 families with a less restricted phenotype, including microcephaly and mental retardation, had an ASPM mutation. Some of the patients with mutations had seizures. Overall, the report identified 27 novel mutations in the ASPM gene, which almost doubled the number of MCPH-associated ASPM mutations. All but 1 of the mutations resulted in premature termination. There were no definitive missense mutations and no genotype/phenotype correlations. Nicholas et al. (2009) concluded that ASPM mutations are the most common cause of strict MCPH.
Muhammad et al. (2009) identified homozygous ASPM mutations in 20 Pakistani families with microcephaly and compound heterozygous ASPM mutations in 2 Pakistani families with microcephaly, yielding a mutation detection rate of 59.5% (22 of 37 families). A total of 16 different nonsense or frameshift mutations, including 12 novel mutations, were identified, increasing the number of reported ASPM mutations from 35 to 47. There was no correlation between the severity of the condition and the site of mutation.
Passemard et al. (2009) identified homozygous or compound heterozygous mutations in the ASPM gene in 11 (22%) of 52 probands with microcephaly. Sixteen novel mutations were identified, and all 18 mutations were truncating or nonsense mutations.
Among 112 consanguineous Iranian families with primary microcephaly, Darvish et al. (2010) found that 13 (14.1%) showed linkage to the MCPH5 locus. However, homozygous mutations in the ASPM gene were only found in 11 families. One mutation had previously been reported by Nicholas et al. (2009), and 10 novel mutations were identified, 9 of which were predicted to result in a truncated protein.
Sajid Hussain et al. (2013) found linkage to 5 different MCPH disease loci in 34 of 57 consanguineous Pakistani families with autosomal recessive primary microcephaly. Pathogenic mutations were found in 27 of the 34 families. Eighteen families showed linkage to the ASPM gene, and pathogenic mutations were found in 17 families. ASPM was the most commonly mutated gene: the W1326X mutation (605481.0006) was present in 8 families, suggesting a founder effect. The second most commonly mutated gene was WDR62 (613583), consistent with MCPH2 (604317), found in 5 families.
Abdel-Hamid et al. (2016) identified 13 truncating mutations in the ASPM gene in 21 patients from 15 (50%) of 30 unrelated Egyptian families with autosomal recessive primary microcephaly who underwent screening of the ASPM gene. The mutations were homozygous or compound heterozygous in the patients and segregated with the disorder in all families. Two mutations (R1327X and R3181X) were recurrent, and could be considered founder mutations in this population. Functional studies of the variant and studies of patient cells were not performed.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly (head circumference 3-11 SD below mean) Face \- Sloping forehead \- Bitemporal narrowing Ears \- Congenital hearing loss (1 family) Eyes \- Prominent eyes \- Arched eyebrows NEUROLOGIC Central Nervous System \- Mental retardation, mild to severe \- Delayed motor development \- Delayed language development \- Seizures (less common) \- Hypoplastic corpus callosum \- Small cerebral cortex \- Simplified cortical gyration pattern \- Small pons \- Small frontal lobe \- Cerebellar hypoplasia (in some patients) \- Enlarged ventricles \- Cortical dysplasia (2 patients) Behavioral Psychiatric Manifestations \- Hyperactivity \- Attention deficit MISCELLANEOUS \- Onset at birth \- Some patients may show mild decrease in head circumference over time MOLECULAR BASIS \- Caused by mutation in the abnormal spindle-like, microcephaly-associated gene (ASPM, 605481.0001 ) ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
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*[NET]: Norepinephrine transporter
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*[ND]: No data
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*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
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*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
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*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
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*[SMS]: Serotonin modulator and stimulators
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| MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | c3711387 | 29,475 | omim | https://www.omim.org/entry/608716 | 2019-09-22T16:07:21 | {"doid": ["0070280"], "mesh": ["C579935"], "omim": ["608716"], "orphanet": ["2512"]} |
Distortion of the sense of taste
Dysgeusia
Other namesParageusia
Pronunciation
* /dɪsˈɡuːʒə/ or /dɪsˈɡjuːziə/
SpecialtyNeurology
Dysgeusia, also known as parageusia, is a distortion of the sense of taste. Dysgeusia is also often associated with ageusia, which is the complete lack of taste, and hypogeusia, which is a decrease in taste sensitivity.[1] An alteration in taste or smell may be a secondary process in various disease states, or it may be the primary symptom. The distortion in the sense of taste is the only symptom, and diagnosis is usually complicated since the sense of taste is tied together with other sensory systems. Common causes of dysgeusia include chemotherapy, asthma treatment with albuterol, and zinc deficiency. Liver disease, hypothyroidism, and rarely certain types of seizures can also lead to dysgeusia. Different drugs could also be responsible for altering taste and resulting in dysgeusia. Due to the variety of causes of dysgeusia, there are many possible treatments that are effective in alleviating or terminating the symptoms of dysgeusia. These include artificial saliva, pilocarpine, zinc supplementation, alterations in drug therapy, and alpha lipoic acid.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Chemotherapy
* 2.2 Taste buds
* 2.3 Zinc deficiency
* 2.4 Drugs
* 2.5 Pregnancy
* 2.6 Miscellaneous causes
* 2.7 Normal function
* 3 Diagnosis
* 3.1 Gustatory testing
* 3.2 Diagnostic tools
* 4 Treatments
* 4.1 Artificial saliva and pilocarpine
* 4.2 Zinc deficiency
* 4.2.1 Zinc supplementation
* 4.2.2 Zinc infusion in chemotherapy
* 4.3 Altering drug therapy
* 4.4 Alpha lipoic acid
* 4.5 Managing dysgeusia
* 4.6 Psychological impacts
* 5 Future research
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
The alterations in the sense of taste, usually a metallic taste, and sometimes smell are the only symptoms.[2]
## Causes[edit]
### Chemotherapy[edit]
A major cause of dysgeusia is chemotherapy for cancer. Chemotherapy often induces damage to the oral cavity, resulting in oral mucositis, oral infection, and salivary gland dysfunction. Oral mucositis consists of inflammation of the mouth, along with sores and ulcers in the tissues.[3] Healthy individuals normally have a diverse range of microbial organisms residing in their oral cavities; however, chemotherapy can permit these typically non-pathogenic agents to cause serious infection, which may result in a decrease in saliva. In addition, patients who undergo radiation therapy also lose salivary tissues.[4] Saliva is an important component of the taste mechanism. Saliva both interacts with and protects the taste receptors in the mouth.[5] Saliva mediates sour and sweet tastes through bicarbonate ions and glutamate, respectively.[6] The salt taste is induced when sodium chloride levels surpass the concentration in the saliva.[6] It has been reported that 50% of chemotherapy patients have suffered from either dysgeusia or another form of taste impairment.[3] Examples of chemotherapy treatments that can lead to dysgeusia are cyclophosphamide, cisplatin, vismodegib,[7] and etoposide.[3] The exact mechanism of chemotherapy-induced dysgeusia is unknown.[3]
### Taste buds[edit]
Distortions in the taste buds may give rise to dysgeusia. In a study conducted by Masahide Yasuda and Hitoshi Tomita from Nihon University of Japan, it has been observed that patients suffering from this taste disorder have fewer microvilli than normal. In addition, the nucleus and cytoplasm of the taste bud cells have been reduced. Based on their findings, dysgeusia results from loss of microvilli and the reduction of Type III intracellular vesicles, all of which could potentially interfere with the gustatory pathway. Radiation to head and neck also results in direct destruction of taste buds, apart from effects of altered salivary output.[8]
### Zinc deficiency[edit]
Another primary cause of dysgeusia is zinc deficiency. While the exact role of zinc in dysgeusia is unknown, it has been cited that zinc is partly responsible for the repair and production of taste buds. Zinc somehow directly or indirectly interacts with carbonic anhydrase VI, influencing the concentration of gustin, which is linked to the production of taste buds.[9] It has also been reported that patients treated with zinc experience an elevation in calcium concentration in the saliva.[9] In order to work properly, taste buds rely on calcium receptors.[10] Zinc “is an important cofactor for alkaline phosphatase, the most abundant enzyme in taste bud membranes; it is also a component of a parotid salivary protein important to the development and maintenance of normal taste buds.”[10]
### Drugs[edit]
There are also a wide variety of drugs that can trigger dysgeusia, including zopiclone,[11] H1-antihistamines, such as azelastine and emedastine.[12] Approximately 250 drugs affect taste.[13] The sodium channels linked to taste receptors can be inhibited by amiloride, and the creation of new taste buds and saliva can be impeded by antiproliferative drugs.[13] Saliva can have traces of the drug, giving rise to a metallic flavor in the mouth; examples include lithium carbonate and tetracyclines.[13] Drugs containing sulfhydryl groups, including penicillamine and captopril, may react with zinc and cause deficiency.[10] Metronidazole and chlorhexidine have been found to interact with metal ions that associate with the cell membrane.[14] Drugs that act by blocking the renin - angiotensin - aldosterone system, for example by antagonizing the angiotensin II receptor (as eprosartan does), have been linked to dysgeusia.[15] There are few case reports claiming calcium channel blockers like Amlodipine also cause dysguesia by blocking calcium sensitive taste buds.[16]
### Pregnancy[edit]
Changes in hormone levels during pregnancy, such as estrogen, can affect the sense of taste.[17] A study found that 93 percent of pregnant women reported some change in taste during pregnancy.[17]
### Miscellaneous causes[edit]
Xerostomia, also known as dry mouth syndrome, can precipitate dysgeusia because normal salivary flow and concentration are necessary for taste. Injury to the glossopharyngeal nerve can result in dysgeusia. In addition, damage done to the pons, thalamus, and midbrain, all of which compose the gustatory pathway, can be potential factors.[18] In a case study, 22% of patients who were experiencing a bladder obstruction were also suffering from dysgeusia. Dysgeusia was eliminated in 100% of these patients once the obstruction was removed.[18] Although it is uncertain what the relationship between bladder relief and dysgeusia entails, it has been observed that the areas responsible for urinary system and taste in the pons and cerebral cortex in the brain are close in proximity.[18]
Many of the causes for dysgeusia occur due to unknown reasons. A wide range of miscellaneous factors may contribute to this taste disorder, such as gastric reflux, lead poisoning, and diabetes mellitus.[19] A minority of pine nuts can apparently cause taste disturbances, for reasons which are not entirely proven. Certain pesticides can have damaging effects on the taste buds and nerves in the mouth. These pesticides include organochloride compounds and carbamate pesticides. Damage to the peripheral nerves, along with injury to the chorda tympani branch of the facial nerve, also cause dysgeusia.[19] A surgical risk for laryngoscopy and tonsillectomy include dysgeusia.[19] Patients who suffer from the burning mouth syndrome, most likely menopausal women, are often suffering from dysgeusia as well.[20]
### Normal function[edit]
The sense of taste is based on the detection of chemicals by specialized taste cells in the mouth. The mouth, throat, larynx, and esophagus all have taste buds, which are replaced every ten days. Each taste bud contains receptor cells.[19] Afferent nerves make contact with the receptor cells at the base of the taste bud.[21] A single taste bud is innervated by several afferent nerves, while a single efferent fiber innervates several taste buds.[22] Fungiform papillae are present on the anterior portion of the tongue while circumvallate papillae and foliate papillae are found on the posterior portion of the tongue. The salivary glands are responsible for keeping the taste buds moist with saliva.[23]
A single taste bud is composed of four types of cells, and each taste bud has between 30 and 80 cells. Type I cells are thinly shaped, usually in the periphery of other cells. They also contain high amounts of chromatin. Type II cells have prominent nuclei and nucleoli with much less chromatin than Type I cells. Type III cells have multiple mitochondria and large vesicles. Type I, II, and III cells also contain synapses. Type IV cells are normally rooted at the posterior end of the taste bud. Every cell in the taste bud forms microvilli at the ends.[8]
## Diagnosis[edit]
In general, gustatory disorders are challenging to diagnose and evaluate. Because gustatory functions are tied to the sense of smell, the somatosensory system, and the perception of pain (such as in tasting spicy foods), it is difficult to examine sensations mediated through an individual system.[24] In addition, gustatory dysfunction is rare when compared to olfactory disorders.[25]
Diagnosis of dysgeusia begins with the patient being questioned about salivation, swallowing, chewing, oral pain, previous ear infections (possibly indicated by hearing or balance problems), oral hygiene, and stomach problems.[26] The initial history assessment also considers the possibility of accompanying diseases such as diabetes mellitus, hypothyroidism, or cancer.[26] A clinical examination is conducted and includes an inspection of the tongue and the oral cavity. Furthermore, the ear canal is inspected, as lesions of the chorda tympani have a predilection for this site.[26]
### Gustatory testing[edit]
In order to further classify the extent of dysgeusia and clinically measure the sense of taste, gustatory testing may be performed. Gustatory testing is performed either as a whole-mouth procedure or as a regional test. In both techniques, natural or electrical stimuli can be used. In regional testing, 20 to 50 µL of liquid stimulus is presented to the anterior and posterior tongue using a pipette, soaked filter-paper disks, or cotton swabs.[25] In whole mouth testing, small quantities (2-10 mL) of solution are administered, and the patient is asked to swish the solution around in the mouth.[25]
Threshold tests for sucrose (sweet), citric acid (sour), sodium chloride (salty), and quinine or caffeine (bitter) are frequently performed with natural stimuli. One of the most frequently used techniques is the "three-drop test."[27] In this test, three drops of liquid are presented to the subject. One of the drops is of the taste stimulus, and the other two drops are pure water.[27] Threshold is defined as the concentration at which the patient identifies the taste correctly three times in a row.[27]
Suprathreshold tests, which provide intensities of taste stimuli above threshold levels, are used to assess the patient's ability to differentiate between different intensities of taste and to estimate the magnitude of suprathreshold loss of taste. From these tests, ratings of pleasantness can be obtained using either the direct scaling or magnitude matching method and may be of value in the diagnosis of dysgeusia. Direct scaling tests show the ability to discriminate among different intensities of stimuli and whether a stimulus of one quality (sweet) is stronger or weaker than a stimulus of another quality (sour).[28] Direct scaling cannot be used to determine if a taste stimulus is being perceived at abnormal levels. In this case, magnitude matching is used, in which a patient is asked to rate the intensities of taste stimuli and stimuli of another sensory system, such as the loudness of a tone, on a similar scale.[28] For example, the Connecticut Chemosensory Clinical Research Center asks patients to rate the intensities of NaCl, sucrose, citric acid and quinine-HCl stimuli, and the loudness of 1000 Hz tones.[28]
Other tests include identification or discrimination of common taste substances. Topical anesthesia of the tongue has been reported to be of use in the diagnosis of dysgeusia as well, since it has been shown to relieve the symptoms of dysgeusia temporarily.[25] In addition to techniques based on the administration of chemicals to the tongue, electrogustometry is frequently used. It is based on the induction of gustatory sensations by means of an anodal electrical direct current. Patients usually report sour or metallic sensations similar to those associated with touching both poles of a live battery to the tongue.[29] Although electrogustometry is widely used, there seems to be a poor correlation between electrically and chemically induced sensations.[30]
### Diagnostic tools[edit]
Certain diagnostic tools can also be used to help determine the extent of dysgeusia. Electrophysiological tests and simple reflex tests may be applied to identify abnormalities in the nerve-to-brainstem pathways. For example, the blink reflex may be used to evaluate the integrity of the trigeminal nerve–pontine brainstem–facial nerve pathway, which may play a role in gustatory function.[31]
Structural imaging is routinely used to investigate lesions in the taste pathway. Magnetic resonance imaging allows direct visualization of the cranial nerves.[32] Furthermore, it provides significant information about the type and cause of a lesion.[32] Analysis of mucosal blood flow in the oral cavity in combination with the assessment of autonomous cardiovascular factors appears to be useful in the diagnosis of autonomic nervous system disorders in burning mouth syndrome and in patients with inborn disorders, both of which are associated with gustatory dysfunction.[33] Cell cultures may also be used when fungal or bacterial infections are suspected.
In addition, the analysis of saliva should be performed, as it constitutes the environment of taste receptors, including transport of tastes to the receptor and protection of the taste receptor.[34] Typical clinical investigations involve sialometry and sialochemistry.[34] Studies have shown that electron micrographs of taste receptors obtained from saliva samples indicate pathological changes in the taste buds of patients with dysgeusia and other gustatory disorders.[35]
## Treatments[edit]
### Artificial saliva and pilocarpine[edit]
Because medications have been linked to approximately 22% to 28% of all cases of dysgeusia, researching a treatment for this particular cause has been important.[36] Xerostomia, or a decrease in saliva flow, can be a side effect of many drugs, which, in turn, can lead to the development of taste disturbances such as dysgeusia.[36] Patients can lessen the effects of xerostomia with breath mints, sugarless gum, or lozenges, or physicians can increase saliva flow with artificial saliva or oral pilocarpine.[36] Artificial saliva mimics the characteristics of natural saliva by lubricating and protecting the mouth but does not provide any digestive or enzymatic benefits.[37] Pilocarpine is a cholinergic drug meaning it has the same effects as the neurotransmitter acetylcholine. Acetylcholine has the function of stimulating the salivary glands to actively produce saliva.[38] The increase in saliva flow is effective in improving the movement of tastants to the taste buds.[36]
### Zinc deficiency[edit]
#### Zinc supplementation[edit]
Zinc Gluconate.
Approximately one half of drug-related taste distortions are caused by a zinc deficiency.[36] Many medications are known to chelate, or bind, zinc, preventing the element from functioning properly.[36] Due to the causal relationship of insufficient zinc levels to taste disorders, research has been conducted to test the efficacy of zinc supplementation as a possible treatment for dysgeusia. In a randomized clinical trial, fifty patients suffering from idiopathic dysgeusia were given either zinc or a lactose placebo.[9] The patients prescribed the zinc reported experiencing improved taste function and less severe symptoms compared to the control group, suggesting that zinc may be a beneficial treatment.[9] The efficacy of zinc, however, has been ambiguous in the past. In a second study, 94% of patients who were provided with zinc supplementation did not experience any improvement in their condition.[36] This ambiguity is most likely due to small sample sizes and the wide range of causes of dysgeusia.[9] A recommended daily oral dose of 25–100 mg appears to be an effective treatment for taste dysfunction provided that there are low levels of zinc in the blood serum.[39] There is not a sufficient amount of evidence to determine whether or not zinc supplementation is able to treat dysgeusia when low zinc concentrations are not detected in the blood.[39]
A Cochrane Review in 2017 assessed the effects of different interventions for the management of taste disturbances. There was very low-quality evidence to support the role of zinc supplementation in the improvement of taste acuity and taste discrimination in patients with zinc deficiency or idiopathic taste disorders. Further research is required to improve the quality of evidence for zinc supplementation as an effective intervention for the management of dysgeusia.[40]
#### Zinc infusion in chemotherapy[edit]
It has been reported that approximately 68% of cancer patients undergoing chemotherapy experience disturbances in sensory perception such as dysgeusia.[41] In a pilot study involving twelve lung cancer patients, chemotherapy drugs were infused with zinc in order to test its potential as a treatment.[42] The results indicated that, after two weeks, no taste disturbances were reported by the patients who received the zinc-supplemented treatment while most of the patients in the control group who did not receive the zinc reported taste alterations.[42] A multi-institutional study involving a larger sample size of 169 patients, however, indicated that zinc-infused chemotherapy did not have an effect on the development of taste disorders in cancer patients.[41] An excess amount of zinc in the body can have negative effects on the immune system, and physicians must use caution when administering zinc to immunocompromised cancer patients.[41] Because taste disorders can have detrimental effects on a patient's quality of life, more research needs to be conducted concerning possible treatments such as zinc supplementation.[43]
### Altering drug therapy[edit]
Eprosartan.
The effects of drug-related dysgeusia can often be reversed by stopping the patient's regimen of the taste altering medication.[44] In one case, a forty-eight-year-old woman who was suffering from hypertension was being treated with valsartan.[45] Due to this drug's inability to treat her condition, she began taking a regimen of eprosartan, an angiotensin II receptor antagonist.[45] Within three weeks, she began experiencing a metallic taste and a burning sensation in her mouth that ceased when she stopped taking the medication.[45] When she began taking eprosartan on a second occasion, her dysgeusia returned.[45] In a second case, a fifty-nine-year-old man was prescribed amlodipine in order to treat his hypertension.[46] After eight years of taking the drug, he developed a loss of taste sensation and numbness in his tongue.[46] When he ran out of his medication, he decided not to obtain a refill and stopped taking amlodipine.[46] Following this self-removal, he reported experiencing a return of his taste sensation.[46] Once he refilled his prescription and began taking amlodipine a second time, his taste disturbance reoccurred.[46] These two cases suggest that there is an association between these drugs and taste disorders. This link is supported by the "de-challenge" and "re-challenge" that took place in both instances.[46] It appears that drug-induced dysgeusia can be alleviated by reducing the drug's dose or by substituting a second drug from the same class.[36]
### Alpha lipoic acid[edit]
Alpha Lipoic Acid.
Alpha lipoic acid (ALA) is an antioxidant that is made naturally by human cells.[47] It can also be administered in capsules or can be found in foods such as red meat, organ meats, and yeast.[47] Like other antioxidants, it functions by ridding the body of harmful free radicals that can cause damage to tissues and organs.[47] It has an important role in the Krebs cycle as a coenzyme leading to the production of antioxidants, intracellular glutathione, and nerve-growth factors.[48] Animal research has also uncovered the ability of ALA to improve nerve conduction velocity.[48] Because flavors are perceived by differences in electric potential through specific nerves innervating the tongue, idiopathic dysgeusia may be a form of a neuropathy.[48] ALA has proven to be an effective treatment for burning mouth syndrome spurring studies in its potential to treat dysgeusia.[48] In a study of forty-four patients diagnosed with the disorder, one half was treated with the drug for two months while the other half, the control group, was given a placebo for two months followed by a two-month treatment of ALA.[48] The results reported show that 91% of the group initially treated with ALA reported an improvement in their condition compared to only 36% of the control group.[48] After the control group was treated with ALA, 72% reported an improvement.[48] This study suggests that ALA may be a potential treatment for patients and supports that full double blind randomized studies should be performed.[48]
### Managing dysgeusia[edit]
In addition to the aforementioned treatments, there are also many management approaches that can alleviate the symptoms of dysgeusia. These include using non-metallic silverware, avoiding metallic or bitter tasting foods, increasing the consumption of foods high in protein, flavoring foods with spices and seasonings, serving foods cold in order to reduce any unpleasant taste or odor, frequently brushing one's teeth and utilizing mouthwash, or using sialogogues such as chewing sugar-free gum or sour-tasting drops that stimulate the productivity of saliva.[41] When taste is impeded, the food experience can be improved through means other than taste, such as texture, aroma, temperature, and color.[44]
### Psychological impacts[edit]
People who suffer from dysgeusia are also forced to manage the impact that the disorder has on their quality of life. An altered taste has effects on food choice and intake and can lead to weight loss, malnutrition, impaired immunity, and a decline in health.[44] Patients diagnosed with dysgeusia must use caution when adding sugar and salt to food and must be sure not to overcompensate for their lack of taste with excess amounts.[44] Since the elderly are often on multiple medications, they are at risk for taste disturbances increasing the chances of developing depression, loss of appetite, and extreme weight loss.[49] This is cause for an evaluation and management of their dysgeusia. In patients undergoing chemotherapy, taste distortions can often be severe and make compliance with cancer treatment difficult.[42] Other problems that may arise include anorexia and behavioral changes that can be misinterpreted as psychiatric delusions regarding food.[50] Symptoms including paranoia, amnesia, cerebellar malfunction, and lethargy can also manifest when undergoing histidine treatment.[50]
## Future research[edit]
Every year, more than 200,000 individuals see their physicians concerning chemosensory problems, and many more taste disturbances are never reported.[51] Due to the large number of persons affected by taste disorders, basic and clinical research are receiving support at different institutions and chemosensory research centers across the country.[51] These taste and smell clinics are focusing their research on better understanding the mechanisms involved in gustatory function and taste disorders such as dysgeusia. For example, the National Institute on Deafness and Other Communication Disorders is looking into the mechanisms underlying the key receptors on taste cells and applying this knowledge to the future of medications and artificial food products.[51] Meanwhile, the Taste and Smell Clinic at the University of Connecticut Health Center is integrating behavioral, neurophysiological, and genetic studies involving stimulus concentrations and intensities in order to better understand taste function.[52]
## See also[edit]
* Anosmia
* Parosmia
## References[edit]
1. ^ Steven K. Feske and Martin A. Samuels, Office Practice of Neurology 2nd ed. (Philadelphia: Elsevier Science, 2003) 114.
2. ^ Hoffman HJ, Ishii EK, MacTurk RH (November 1998). "Age-related changes in the prevalence of smell/taste problems among the United States adult population. Results of the 1994 disability supplement to the National Health Interview Survey (NHIS)". Annals of the New York Academy of Sciences (Submitted manuscript). 855 (1): 716–22. Bibcode:1998NYASA.855..716H. doi:10.1111/j.1749-6632.1998.tb10650.x. PMID 9929676. S2CID 12659798.
3. ^ a b c d Raber-Durlacher JE, Barasch A, Peterson DE, Lalla RV, Schubert MM, Fibbe WE (July 2004). "Oral complications and management considerations in patients treated with high-dose chemotherapy". Supportive Cancer Therapy. 1 (4): 219–29. doi:10.3816/SCT.2004.n.014. PMID 18628146.
4. ^ Wiseman M (June 2006). "The treatment of oral problems in the palliative patient". Journal. 72 (5): 453–8. PMID 16772071.
5. ^ Matsuo R (2000). "Role of saliva in the maintenance of taste sensitivity". Critical Reviews in Oral Biology and Medicine. 11 (2): 216–29. doi:10.1177/10454411000110020501. PMID 12002816.
6. ^ a b Spielman AI (March 1990). "Interaction of saliva and taste". Journal of Dental Research. 69 (3): 838–43. doi:10.1177/00220345900690030101. PMID 2182682. S2CID 24639739.
7. ^ "Side Effects & Helpful Tips | Erivedge®(vismodegib)". www.erivedge.com. Retrieved 2020-01-06.
8. ^ a b Yasuda M, Tomita H (8 July 2009). "Electron microscopic observations of glossal circumvallate papillae in dysgeusic patients". Acta Oto-Laryngologica. Supplementum. 122 (546): 122–8. doi:10.1080/00016480260046508. PMID 12132609. S2CID 27053598.
9. ^ a b c d e Heckmann SM, Hujoel P, Habiger S, Friess W, Wichmann M, Heckmann JG, Hummel T (January 2005). "Zinc gluconate in the treatment of dysgeusia--a randomized clinical trial" (PDF). Journal of Dental Research. 84 (1): 35–8. doi:10.1177/154405910508400105. PMID 15615872. S2CID 5855839.
10. ^ a b c Joseph M. Bicknell, MD and Robert V. Wiggins, MD, “Taste Disorder From Zinc Deficiency After Tonsillectomy,” The Western Journal of Medicine Oct.1988: 458.
11. ^ Sanofi-Aventis Australia Pty Limited. "Product Information IMOVANE (zopiclone) Tablets" (PDF). ADVERSE EFFECTS. p. 6. Archived from the original (PDF) on 9 November 2014. Retrieved 9 November 2014.
12. ^ Simons FE (November 2004). "Advances in H1-antihistamines". The New England Journal of Medicine. 351 (21): 2203–17. doi:10.1056/NEJMra033121. PMID 15548781.
13. ^ a b c Steven K. Feske and Martin A. Samuels, Office Practice of Neurology 2nd ed. (Philadelphia: Elsevier Science, 2003) 119.
14. ^ Ciancio SG (October 2004). "Medications' impact on oral health". Journal of the American Dental Association. 135 (10): 1440–8, quiz 1468-9. doi:10.14219/jada.archive.2004.0055. PMID 15551986.
15. ^ Castells X, Rodoreda I, Pedrós C, Cereza G, Laporte JR (November 2002). "Drug points: Dysgeusia and burning mouth syndrome by eprosartan". BMJ. 325 (7375): 1277. doi:10.1136/bmj.325.7375.1277. PMC 136926. PMID 12458247.
16. ^ Pugazhenthan Thangaraju, Harmanjith Singh, Prince Kumar and Balasubramani Hariharan,"Is Dysgeusia going to be a rare or a common side-effect of Amlodipine?,"Ann Med Health Sci Res,Mar-Apr 2014: PMC 4083725.
17. ^ a b "Metallic Taste During Pregnancy (Dysgeusia)". What to Expect. Retrieved 2020-02-25.
18. ^ a b c R. K. Mal and M. A. Birchall, “Dysgeusia related to urinary obstruction from benign prostatic disease: a case control and qualitative study,” European Archives of Oto-Rhino Laryngology 24 Aug. 2005:178.
19. ^ a b c d Norman M. Mann, MD, “Management of Smell and Taste Problems,” Cleveland Clinic Journal of Medicine Apr. 2002: 334.
20. ^ Giuseppe Lauria, Alessandra Majorana, Monica borgna, Raffaella Lombardi, Paola Penza, Alessandro padovani, and Pierluigi Sapelli, “Trigeminal small-fiber sensory neuropathy causes burning mouth syndrome,” Pain 11 Mar. 2005: 332, 336.
21. ^ Brand JG (October 2000). "Within reach of an end to unnecessary bitterness?". Lancet. 356 (9239): 1371–2. doi:10.1016/S0140-6736(00)02836-1. PMID 11052575. S2CID 11056520.
22. ^ Beidler LM, Smallman RL (November 1965). "Renewal of cells within taste buds". The Journal of Cell Biology. 27 (2): 263–72. CiteSeerX 10.1.1.281.8593. doi:10.1083/jcb.27.2.263. PMC 2106718. PMID 5884625.
23. ^ Bromley SM (January 2000). "Smell and taste disorders: a primary care approach". American Family Physician. 61 (2): 427–36, 438. PMID 10670508.
24. ^ Deems DA, Doty RL, Settle RG, Moore-Gillon V, Shaman P, Mester AF, et al. (May 1991). "Smell and taste disorders, a study of 750 patients from the University of Pennsylvania Smell and Taste Center". Archives of Otolaryngology--Head & Neck Surgery. 117 (5): 519–28. doi:10.1001/archotol.1991.01870170065015. PMID 2021470.
25. ^ a b c d Hummel T, Knecht M. Smell and taste disorders. In: Calhoun KH, ed. Expert Guide to Otolaryngology. Philadelphia, Pa: American College of Physicians; 2001:650-664.
26. ^ a b c Schiffman SS (May 1983). "Taste and smell in disease (first of two parts)". The New England Journal of Medicine. 308 (21): 1275–9. doi:10.1056/NEJM198305263082107. PMID 6341841.
27. ^ a b c Ahne G, Erras A, Hummel T, Kobal G (August 2000). "Assessment of gustatory function by means of tasting tablets". The Laryngoscope. 110 (8): 1396–401. doi:10.1097/00005537-200008000-00033. PMID 10942148.
28. ^ a b c Seiden, Allen M., “Taste and Smell Disorders (Rhinology & Sinusology),” Thieme Publishing Group Aug. 2000: 153.
29. ^ Stillman JA, Morton RP, Goldsmith D (April 2000). "Automated electrogustometry: a new paradigm for the estimation of taste detection thresholds". Clinical Otolaryngology and Allied Sciences. 25 (2): 120–5. doi:10.1046/j.1365-2273.2000.00328.x. PMID 10816215.
30. ^ Murphy C, Quiñonez C, Nordin S (October 1995). "Reliability and validity of electrogustometry and its application to young and elderly persons". Chemical Senses. 20 (5): 499–503. doi:10.1093/chemse/20.5.499. PMID 8564424.
31. ^ Jääskeläinen SK, Forssell H, Tenovuo O (December 1997). "Abnormalities of the blink reflex in burning mouth syndrome". Pain. 73 (3): 455–60. doi:10.1016/S0304-3959(97)00140-1. PMID 9469537. S2CID 42193427.
32. ^ a b Lell M, Schmid A, Stemper B, Maihöfner C, Heckmann JG, Tomandl BF (February 2003). "Simultaneous involvement of third and sixth cranial nerve in a patient with Lyme disease". Neuroradiology. 45 (2): 85–7. doi:10.1007/s00234-002-0904-x. PMID 12592489. S2CID 491633.
33. ^ Heckmann JG, Hilz MJ, Hummel T, Popp M, Marthol H, Neundörfer B, Heckmann SM (October 2000). "Oral mucosal blood flow following dry ice stimulation in humans". Clinical Autonomic Research. 10 (5): 317–21. doi:10.1007/BF02281116. PMID 11198489. S2CID 11127646.
34. ^ a b Matsuo R (April 2000). "Role of saliva in the maintenance of taste sensitivity". Critical Reviews in Oral Biology and Medicine. 11 (2): 216–29. doi:10.1177/10454411000110020501. PMID 12002816.
35. ^ Henkin RI, Schechter PJ, Hoye R, Mattern CF (July 1971). "Idiopathic hypogeusia with dysgeusia, hyposmia, and dysosmia. A new syndrome". JAMA. 217 (4): 434–40. doi:10.1001/jama.1971.03190040028006. PMID 5109029.
36. ^ a b c d e f g h Giudice M (1 March 2006). "Taste Disturbances Linked to Drug Use: Change in Drug Therapy May Resolve Symptoms". Canadian Pharmacists Journal. 139 (2): 70–73. doi:10.1177/171516350613900208. S2CID 76395008.
37. ^ Preetha, A. and R. Banerjee, "Comparison of Artificial Saliva Substitutes, Trends in Biomaterials and Artificial Organs, Jan. 2005: 179.
38. ^ "Medications and Drugs," 6 May 2004, 25 Oct. 2009, <http://www.medicinenet.com/pilocarpine/article.htm>
39. ^ a b Heyneman CA (February 1996). "Zinc deficiency and taste disorders". The Annals of Pharmacotherapy. 30 (2): 186–7. doi:10.1177/106002809603000215. PMID 8835055. S2CID 20569450.
40. ^ Kumbargere Nagraj, Sumanth; George, Renjith P; Shetty, Naresh; Levenson, David; Ferraiolo, Debra M; Shrestha, Ashish (2017-12-20). "Interventions for managing taste disturbances". Cochrane Database of Systematic Reviews. 12: CD010470. doi:10.1002/14651858.cd010470.pub3. ISSN 1465-1858. PMC 6486004. PMID 29260510.
41. ^ a b c d Hong, Jae Hee, et al., "Taste and Odor Abnormalities in Cancer Patients," The Journal of Supportive Oncology, Mar./Apr. 2009: 59-64.
42. ^ a b c Yamagata T, Nakamura Y, Yamagata Y, Nakanishi M, Matsunaga K, Nakanishi H, et al. (December 2003). "The pilot trial of the prevention of the increase in electrical taste thresholds by zinc containing fluid infusion during chemotherapy to treat primary lung cancer". Journal of Experimental & Clinical Cancer Research. 22 (4): 557–63. PMID 15053297.
43. ^ Halyard MY (2008). "Taste and smell alterations in cancer patients--real problems with few solutions". The Journal of Supportive Oncology. 7 (2): 68–9. PMID 19408460.
44. ^ a b c d Bromley, Steven M., "Smell and Taste Disorders: A Primary Care Approach," American Family Physician 15 Jan. 2000, 23 Oct. 2009 <http://www.aafp.org/afp/20000115/427.html>
45. ^ a b c d Castells, Xavier, et al., "Drug Points: Dysgeusia and Burning Mouth Syndrome by Eprosartan," British Medical Journal, 30 Nov. 2002: 1277.
46. ^ a b c d e f Sadasivam B, Jhaj R (February 2007). "Dysgeusia with amlodipine--a case report". British Journal of Clinical Pharmacology. 63 (2): 253. doi:10.1111/j.1365-2125.2006.02727.x. PMC 2000565. PMID 17274793.
47. ^ a b c University of Maryland Medical Center, "Alpha-lipoic Acid," 26 Oct. 2009
48. ^ a b c d e f g h Femiano F, Scully C, Gombos F (December 2002). "Idiopathic dysgeusia; an open trial of alpha lipoic acid (ALA) therapy". International Journal of Oral and Maxillofacial Surgery. 31 (6): 625–8. doi:10.1054/ijom.2002.0276. PMID 12521319.
49. ^ Padala KP, Hinners CK, Padala PR (14 July 2006). "Mirtazapine therapy for dysgeusia in an elderly patient". Primary Care Companion to the Journal of Clinical Psychiatry. 8 (3): 178–80. doi:10.4088/PCC.v08n0310b. PMC 1540398. PMID 16912823.
50. ^ a b Bicknell JM, Wiggins RV (October 1988). "Taste disorder from zinc deficiency after tonsillectomy". The Western Journal of Medicine. 149 (4): 457–60. PMC 1026505. PMID 3227690.
51. ^ a b c National Institute on Deafness and Other Communication Disorders, "Taste Disorders," 25 June 2008, 23 Oct. 2009 <http://www.nidcd.nih.gov/health/smelltaste/taste.asp Archived 2009-10-22 at the Wayback Machine>
52. ^ The University of Connecticut Health Center, "Taste and Smell: Research," 26 Oct. 2009 <http://www.uchc.edu/uconntasteandsmell/research/index.html>
## External links[edit]
Classification
D
* ICD-10: R43.2
* ICD-9-CM: 781.1
* MeSH: D004408
* DiseasesDB: 27369
External resources
* MedlinePlus: 003050
* eMedicine: ent/333
* Dysgeusia at NIH
* v
* t
* e
Symptoms and signs relating to perception, emotion and behaviour
Cognition
* Confusion
* Delirium
* Psychosis
* Delusion
* Amnesia
* Anterograde amnesia
* Retrograde amnesia
* Convulsion
* Dizziness
* Disequilibrium
* Presyncope/Lightheadedness
* Vertigo
Emotion
* Anger
* Anxiety
* Depression
* Fear
* Paranoia
* Hostility
* Irritability
* Suicidal ideation
Behavior
* Verbosity
* Russell's sign
Perception
* Sensory processing disorder
* Hallucination (Auditory hallucination)
* Smell
* Anosmia
* Hyposmia
* Dysosmia
* Parosmia
* Phantosmia
* Hyperosmia
* Synesthesia
* Taste
* Ageusia
* Hypogeusia
* Dysgeusia
* Hypergeusia
* v
* t
* e
Taste
Basic tastes
* Bitterness
* Saltiness
* Sourness
* Sweetness
* Umami
Anatomy
* Epiglottis
* Pharynx
* Soft palate
* Tongue
Gustology
* Ageusia
* Dysgeusia
* Hypogeusia
* Hypergeusia
Other
* Aftertaste
* Acquired taste
* Pungency
* Scoville scale
* Supertaster
* Tongue map
See also
* Sight
* Hearing
* Smell
* Touch
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dysgeusia | c0013378 | 29,476 | wikipedia | https://en.wikipedia.org/wiki/Dysgeusia | 2021-01-18T19:03:19 | {"mesh": ["D004408"], "icd-9": ["781.1"], "icd-10": ["R43.2"], "wikidata": ["Q6402731"]} |
3-Methylcrotonyl-CoA carboxylase deficiency
Other names3MCC deficiency
Methylcrotonyl-CoA
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (July 2011) (Learn how and when to remove this template message)
3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine. This condition affects an estimated 1 in 50,000 individuals worldwide.
## Contents
* 1 Presentation
* 2 Genetics
* 3 Screening
* 4 Treatment
* 5 References
* 6 External links
## Presentation[edit]
Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications. In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or symptoms of the disorder.
The characteristic features of this condition are similar to those of Reye syndrome, a severe disorder that develops 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]
The MCCC1 and MCCC2 genes make protein subunits that come together to form an enzyme called 3-methylcrotonyl-CoA carboxylase. This enzyme plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the fourth step in processing leucine. If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. This condition is inherited in an autosomal recessive pattern.
## Screening[edit]
It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.[1]
## Treatment[edit]
Symptoms can be reduced through avoidance of leucine, an amino acid. Leucine is a component of most protein-rich foods; therefore, a low-protein diet is recommended. Some isolated cases of this disorder have responded to supplemental biotin;[2] this is not altogether surprising, consider that other biotin-related genetic disorders (such as biotinidase deficiency and holocarboxylase synthetase deficiency) can be treated solely with biotin. Individuals with these multiple carboxylase disorders have the same problem with leucine catabolism as those with 3-methylcrotonyl-CoA carboxylase deficiency.
## References[edit]
This article incorporates public domain text from The U.S. National Library of Medicine
1. ^ "ACT Sheets and Algorithms". www.acmg.net. Retrieved 2019-03-27.
2. ^ Baumgartner, Matthias R.; Dantas, M.Fernanda; Suormala, Terttu; Almashanu, Shlomo; Giunta, Cecilia; Friebel, Dolores; Gebhardt, Boris; Fowler, Brian; Hoffmann, Georg F.; Baumgartner, E. Regula; Valle, David (2004). "Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy". The American Journal of Human Genetics. 75 (5): 790–800. doi:10.1086/425181. PMC 1182108. PMID 15359379.
## External links[edit]
Classification
D
* OMIM: 210200 210210
* MeSH: C535308
* DiseasesDB: 32207
* 3-Methylcrotonyl-CoA carboxylase deficiency at NLM Genetics Home Reference
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 3-Methylcrotonyl-CoA carboxylase deficiency | c0268600 | 29,477 | wikipedia | https://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency | 2021-01-18T18:59:01 | {"gard": ["10954", "9151"], "mesh": ["C535308"], "umls": ["CN028786"], "orphanet": ["6"], "wikidata": ["Q4634172"]} |
Holt and Dash Sharma (1977) reported absence of triradius d from the palms of 2 Nicobarese sisters and suggested recessive inheritance. Hajn and Pospisil (1971) excluded dominant inheritance by finding the triradius d present in both parents and the 3 grandparents studied. The term dermatoglyphics (skin-carving) was introduced by Cummins and Midlo (1926).
Inheritance \- Autosomal recessive Skin \- Absent palmar triradius d \- Abmormal dermatoglyphics ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF | c1857329 | 29,478 | omim | https://www.omim.org/entry/221760 | 2019-09-22T16:28:56 | {"omim": ["221760"]} |
Atrophic connective tissue panniculitis is a rare condition, and often occurs on the upper or lower extremities.[1]
## See also[edit]
* Involutional lipoatrophy
* 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.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Atrophic connective tissue panniculitis | None | 29,479 | wikipedia | https://en.wikipedia.org/wiki/Atrophic_connective_tissue_panniculitis | 2021-01-18T18:38:41 | {"wikidata": ["Q4817688"]} |
## Summary
### Clinical characteristics.
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
### Diagnosis/testing.
The diagnosis of ROR2-related Robinow syndrome is established in a proband with typical suggestive findings and biallelic ROR2 pathogenic variants identified on molecular genetic testing.
### Management.
Treatment of manifestations: Corrective surgery for limb and spine defects and for facial abnormalities; orthodontic treatment as needed; surgery for males with scrotal transposition as needed; hormone therapy as needed for the treatment of micropenis.
### Genetic counseling.
ROR2-related Robinow syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected with Robinow syndrome, a 50% chance of being a heterozygote (carrier) and usually asymptomatic, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members, prenatal diagnosis for pregnancies at increased risk, and preimplantation genetic testing are possible when the ROR2 pathogenic variants have been identified in the family.
## Diagnosis
### Suggestive Findings
ROR2-related Robinow syndrome should be suspected in individuals with the following clinical findings and family history.
#### Clinical Findings
Craniofacial findings in early childhood [Tufan et al 2005, Brunetti-Pierri et al 2008]:
* Macrocephaly
* Dysmorphic facial features including: broad prominent forehead, marked ocular hypertelorism, prominent eyes with apparent exophthalmos resulting from deficiency of the lower eyelid (giving the eyes a more prominent appearance), midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth (usually with tethering of the upper lip in the center so it appears like an inverted V and exposes the incisors and upper gum), micrognathia, and simple, low-set ears (which can be posteriorly rotated)
* Cleft lip and/or cleft palate
* Crowded and misaligned teeth, gum hypertrophy, and ankyloglossia (with bifid tongue in severe cases)
Skeletal
* Short stature. Birth length is reduced; height was consistently ≥2 SD below the mean in one series [Soliman et al 1998].
* Mesomelic or acromesomelic limb shortening, mostly in the forearms
* Brachydactyly with shortening of the distal phalanx, especially the second and fifth digit; clefting of the distal phalanx of the thumb and occasionally other distal phalanges; variable soft-tissue syndactyly involving two or more digits
* Hemivertebrae with fusion of thoracic vertebrae; ribs usually fused or absent [Patton & Afzal 2002, Tufan et al 2005]
Genital
* In males, micropenis with normal scrotum and testes, or cryptorchidism
* In females, reduced clitoral size and hypoplasia of the labia majora
#### Family History
Family history is consistent with autosomal recessive inheritance. To date ROR2-related Robinow syndrome has been reported in consanguineous populations as well as in nonconsanguineous populations showing a founder effect (see Aglan et al [2015] for review).
### Establishing the Diagnosis
The diagnosis of ROR2-related Robinow syndrome is established in a proband with typical suggestive findings in whom biallelic ROR2 pathogenic variants have been identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array).
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of ROR2-related Robinow syndrome is well described, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of ROR2-related Robinow syndrome has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic findings and family history suggest the diagnosis of ROR2-related Robinow syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel.
* Single-gene testing. Sequence analysis of ROR2 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.
* A multigene panel that includes ROR2 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of ROR2-related Robinow syndrome has not been considered, affected individuals are most likely to be diagnosed using comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved). Exome sequencing is most commonly used; genome sequencing is also possible.
Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in ROR2-Related Robinow Syndrome
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
ROR2Sequence analysis 3>95%
Gene-targeted deletion/duplication analysis 4Unknown 5
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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\.
The frequency of exon or whole-gene deletions and duplications in this disorder is not known; however, exon deletions have been reported [Brunetti-Pierri et al 2008].
## Clinical Characteristics
### Clinical Description
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies.
Craniofacial. Facies are characteristic at birth and in early childhood (see Suggestive Findings). The face in early childhood resembles a fetal face at eight weeks' gestation; this becomes less noticeable with age. Accelerated growth of the nose in adolescence gives the face a more normal appearance, but the broad forehead, broad nasal root, and ocular hypertelorism persist into adulthood.
Midline cleft lip and palate has been reported but is not a common finding. A rather unusual form of clefting involving the lower lip has been described in some individuals.
Dental problems, including wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding, and hypodontia, are also common in Robinow syndrome.
Hyperplastic gingival tissues may also interfere with dental eruption and orthodontic treatments [Grothe et al 2008, Beiraghi et al 2011].
Skeletal. Short stature is almost always present in childhood and persists into adulthood; however, the final degree of short stature may be mild [Tufan et al 2005].
The forearms are more noticeably affected by mesomelic or acromesomelic shortening than the lower limbs, often with radioulnar dislocation.
The phalanges and carpal bones may be fused. Partial cutaneous syndactyly or ectrodactyly (i.e., split hand) may be seen. Hand function is not severely affected.
Kyphoscoliosis is often severe. The chest may be deformed and ribs are often fused, as in spondylocostal dysostosis; some ribs may even be absent. Primary lung function is normal, but changes in the chest wall and thoracic vertebrae may reduce cough effort and predispose to respiratory infections [Sleesman & Tobias 2003].
Urogenital. At birth, the genitalia are abnormal, sometimes leading (primarily in males) to issues related to sex assignment. In males, the penis is small; scrotum and testes are normal. Cryptorchidism has been reported. In females, clitoral size is reduced; labia majora may be hypoplastic.
Wilcox et al [1997] determined that in Robinow syndrome the penis is buried inferiorly and posteriorly within the scrotum because the penile crura insert inferiorly and posteriorly onto the medial aspect of the ischial tuberosity (rather than onto the anteromedial aspect of the pubic bone). Thus, a normal-sized penis appears shorter and inferiorly placed in the scrotum.
Endocrine investigations are usually normal; however, Soliman et al [1998] reported low basal serum testosterone concentration and low testosterone response to human chorionic gonadotropin stimulation in boys. Puberty is usually normal.
Renal abnormalities may be associated with the genital abnormalities. Hydronephrosis is common and cystic dysplasia of the kidney has been reported.
Other
* Congenital heart defects are seen in 15%. In addition to pulmonary valve stenosis or atresia, cardiac defects include atrial septal defect, ventricular septal defect, coarctation of the aorta, tetralogy of Fallot, and tricuspid atresia [Al-Ata et al 1998]. Congenital heart defects are the major cause of early death.
* Nail hypoplasia or dystrophy may be present.
* Intellect is usually within the normal range; however, developmental delay has been reported.
### Genotype-Phenotype Correlations
No genotype-phenotype correlations are known.
### Nomenclature
Other names by which Robinow syndrome has been known in the past:
* Costovertebral segmentation defect with mesomelia (COVESDEM): this name is no longer used because it causes confusion with similar vertebral defect syndromes, and in ROR2-related Robinow syndrome, acromesomelia as well as mesomelia is present.
* Robinow-Silverman syndrome
### Prevalence
ROR2-related Robinow syndrome is rare. More than 100 cases have been reported in the literature. It commonly occurs in consanguineous families; for example, those of Turkish and Omani origin.
## Differential Diagnosis
NXN-related Robinow syndrome (OMIM 618529), an autosomal recessive form of Robinow syndrome, was described in three individuals with biallelic NXN pathogenic variants from two unrelated families. All three had classic clinical findings of Robinow syndrome including typical craniofacial features, mesomelic shortening, and brachydactyly [White et al 2018]. One individual, born to consanguineous parents, was homozygous for a nonsense NXN variant; the two affected sibs in the other family had compound heterozygous NXN pathogenic variants.
Note: The NXN protein is a relevant partner in the WNT5A signaling pathway that is intimately involved in Robinow syndrome causation. ROR2 binds to WNT5A and interacts with FZD2. The effect of this interaction is routed to disheveled proteins (DVL1, DVL3) that are further stabilized by NXN. This complex activates JNK signaling responsible for cytoskeletal reorganization and cell polarity.
Biallelic WNT5A pathogenic variants were identified in one individual with findings similar to those of ROR2-related Robinow syndrome [Author, unpublished observation].
Autosomal dominant Robinow syndrome, described by Robinow et al [1969], is similar to ROR2-related Robinow syndrome, but has more severe dental anomalies and less severe skeletal defects:
* Vertebral anomalies and radial head dislocation are rare [Bain et al 1986].
* Vertebral anomalies and scoliosis are seen in far fewer of those with AD Robinow syndrome (<25%) compared to those with AR Robinow syndrome (>75%) [Mazzeu et al 2007].
* Height is usually nearer the normal range in AD Robinow syndrome.
Autosomal dominant Robinow syndrome is rarer than autosomal recessive Robinow syndrome.
The diagnosis of autosomal dominant Robinow syndrome is established in a proband with typical suggestive findings and/or by the identification of a heterozygous pathogenic variant in DVL1, DVL3, or WNT5A through molecular genetic testing. WNT5A is a known coreceptor of the tyrosine kinase receptor, ROR2, which would explain the overlap in clinical phenotype of WNT5A\- and ROR2-associated Robinow syndrome.
Jarcho-Levin syndrome and spondylocostal dysostosis (see Spondylocostal Dysostosis, Autosomal Recessive) are diagnosed radiologically and show vertebral and rib abnormalities similar to those found in ROR2-related Robinow syndrome; short trunk and respiratory insufficiency are present.
I-cell disease (mucolipidosis type II) is a lysosomal storage disorder showing growth failure, coarse facial features, hypertrophic gums, skeletal abnormalities, developmental delay, and hypotonia.
Aarskog syndrome (OMIM 100050). Facial features are similar to those in ROR2-related Robinow syndrome: wide-spaced eyes, anteverted nostrils, and broad upper lip. Vertebral abnormalities are not observed. The shawl scrotum and lax ligaments of Aarskog syndrome are not found in ROR2-related Robinow syndrome.
Omodysplasia (OMIM 258315 and 164745) is similar to ROR2-related Robinow syndrome, with short limbs and radial dislocation; however, no genital abnormalities are present [Venditti et al 2002].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with ROR2-related Robinow syndrome, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Clinical assessment for presence of cleft lip/palate and the need for surgical repair
* Orthodontics consultation as needed for misaligned, crowded teeth
* Clinical and radiographic evaluation of the spine and rib cage to assess the severity of kyphoscoliosis and vertebral and rib anomalies, as these can lead to postural and respiratory complications [Wilcox et al 1997]
* Radiographic documentation of radioulnar synostosis, forearm shortening, and brachydactyly
* Urology consultation in males with cryptorchidism and abnormal penile insertion / penoscrotal transposition for consideration of reconstructive surgery
* Endocrine consultation to assess the possibility of hormone therapy for males with micropenis
* Renal ultrasound examination
* Echocardiogram to evaluate for structural heart defects
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Corrective surgeries may be required for the following:
* Syndactyly
* Severe scoliosis secondary to hemivertebrae and rib abnormalities
* Cleft lip/palate
* Abnormal penile insertion / penoscrotal transposition. Although it was not possible to detach the abnormal insertion of the penile crura, which can cause a normal-sized penis to be buried in the scrotum and thus appear small, Wilcox et al [1997] improved the cosmetic appearance by transposing the scrotum downward.
Injection of human chorionic gonadotropin and testosterone therapy improved penile length and testicular volume in three boys with severe micropenis [Soliman et al 1998]. Hormone therapy should be monitored by a pediatric endocrinologist.
Orthodontic treatment is usually required.
Perioperative management of individuals with Robinow syndrome should include the following [Macdonald & Dearlove 1995, Lirk et al 2003, Sleesman & Tobias 2003]:
* Preoperative radiologic assessment of the vertebrae and ribs because of the risk for respiratory complications
* Preoperative cardiac evaluation for the presence of congenital heart defects
* Awareness that endotracheal intubation may be difficult as a result of midface hypoplasia
### Surveillance
The following are appropriate:
* Surveillance for evidence of scoliosis until growth is completed
* Dental evaluation every six months to one year or as recommended by the dental professional on initial assessment
* Regular cardiac and renal assessment by respective specialists as needed if abnormalities are identified
### 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 information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ROR2-Related Robinow Syndrome | c0265205 | 29,480 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1240/ | 2021-01-18T21:01:02 | {"mesh": ["C562492"], "synonyms": ["Fetal Face Syndrome"]} |
Andermann syndrome
Other namesKCC3 axonopathy, Agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease
This condition is inherited in an autosomal recessive manner
SpecialtyMedical genetics, neurology
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN) and Charlevoix disease, among other names,[1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus collosum.[1][2][3][4][5]
It was first described by Eva Andermann et al. in 1972.[3][6][7]
## Contents
* 1 Symptoms
* 2 Genetics
* 3 Neuropathology
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Prevalence
* 8 References
* 9 External links
## Symptoms[edit]
Symptoms begin in infancy and include:[2][4]
* hypotonia
* areflexia
* amyotrophy
* variable degrees of dysgenesis of the corpus callosum
* mild to severe intellectual and developmental delay
* psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior
## Genetics[edit]
The inheritance pattern is autosomal recessive.[4] Several genes have been associated with the disorder, including SLC12A6.[6]
## Neuropathology[edit]
Autopsy examination of 8 cases[8] has shown both developmental and degenerative neuropathologic features in this disease, consistent with clinical duality as both a neurodevelopmental and neurodegenerative disorder.
In the central nervous system, accompanying the hypotonia at birth is hypoplasia of the corticospinal tracts. Another developmental feature is seen in the corpus callosum, which varies from absent to hypoplastic. The anterior commissure is almost always absent, but occasionally hypoplastic. A bundle of Probst can be found running antero-posterior rather than crossing the midline. The axonal damage due to the channel deficiency can cause a reactive axonal overgrowth leading to small tumor-like growths, or tumorlets, called axonomas, or balls of aberrant axons. Damaged axons can also show a sign of inhibition of axonal transport, forming axonal spheroids. These spheroids can be throughout the cerebral hemispheres, explaining the psychotic symptoms by disconnection of the brain from itself by axonal functional disruption.[citation needed]
In the Peripheral nervous system, the disease is more severe. While most nervous system diseases affect either CNS or PNS, this disease affects both, but it is the changes in the peripheral nervous system that lead to death. This occurs by axonal disease paralyzing the skeletal muscles, including the respiratory muscles as a result of axonal damage in peripheral nerves. Changes in the axons are more severe in the PNS than CNS and under the electron microscope, some axons look necrotic, by virtue of containing mitochondrial flocculent densities and other irreversible changes.[8] The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kilograms, remarkable in view of the preserved brain weights.[8]
## Diagnosis[edit]
Typical diagnostic workup includes[9]
* clinical features
* electrophysiologic testing
* molecular genetic testing (SLC12A6)
* magnetic resonance imaging (MRI) of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis)
## Treatment[edit]
There is currently no cure, but some symptoms may be treated such as neuroleptics for the psychiatric problems.[5]
## Prognosis[edit]
The prognosis is poor. Patients are usually wheelchair bound by their 20s and die by their 30s.[4][5]
## Prevalence[edit]
The prevalence rate has been estimated to be less than 1/1,000,000 worldwide.[4] However, it is much more common in the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada, where it has a frequency of about 1 in 2100 in live births, and a carrier rate of 1 in 23.[5]
## References[edit]
1. ^ a b "Andermann syndrome". Genetics Home Reference. NIH. Retrieved 19 January 2017.
2. ^ a b "Andermann syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-01-19.
3. ^ a b "AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN". www.omim.org. Retrieved 2017-01-19.
4. ^ a b c d e RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Corpus callosum agenesis neuronopathy syndrome". www.orpha.net. Retrieved 2017-01-19.
5. ^ a b c d Dupré, Nicolas; Howard, Heidi C.; Rouleau, Guy A. (1993-01-01). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301546.
6. ^ a b Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006-04-11). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology. 66 (7): 1044–1048. doi:10.1212/01.wnl.0000204181.31175.8b. ISSN 1526-632X. PMID 16606917.
7. ^ Andermann, Eva (1972). et al. "Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia". Transactions of the American Neurological Association. 97: 242–244.
8. ^ a b c Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M (2016). "KCC3 axonopathy: neuropathological features in the central and peripheral nervous system". Modern Pathology. 29 (9): 962–976. doi:10.1038/modpathol.2016.90. PMID 27230413.
9. ^ Dupré, Nicolas (12 June 2014). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". Retrieved 18 April 2020.
## External links[edit]
* Andermann syndrome at OMIM
* Andermann syndrome at Orpha.net
* Andermann syndrome at GARD
Classification
D
* ICD-10: G60.0
* OMIM: 218000
External resources
* Orphanet: 1496
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Andermann syndrome | c0795950 | 29,481 | wikipedia | https://en.wikipedia.org/wiki/Andermann_syndrome | 2021-01-18T18:38:59 | {"mesh": ["C536446"], "wikidata": ["Q3508595"]} |
Dual-role transvestism
SpecialtyPsychiatry
Part of a series on
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Dual-role transvestism is the formal diagnosis used by psychologists and physicians to describe people who wear clothes of the opposite sex to experience being the opposite sex temporarily, but don't have a sexual motive or want gender reassignment surgery. The International Classification of Diseases (ICD-10) list three diagnostic criteria for "Dual-role transvestism" (F64.1).[1][failed verification]
A person who is diagnosed with dual-role transvestism should not receive a diagnosis of transvestic fetishism (F65.1).[2]
Dual-role transvestism has been recommended for elimination from the International Statistical Classification of Diseases and Related Health Problems, 11th Revision (ICD-11), due to its lack of clinical relevance.[3] The ICD-11 for Mortality and Morbidity Statistics (Version: 04/2019) no longer categorises dual-role transvestism as a "mental disorder". The changes to the diagnostic manual will come into effect on 1 January 2022.
## See also[edit]
* Bigender
* Transvestism
## References[edit]
1. ^ "Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7" (PDF). International Journal of Transgenderism. Routledge Taylor & Francis Group (13): 165–232. 2011. doi:10.1080/15532739.2011.700873. Archived from the original (PDF) on August 2, 2014. Retrieved August 30, 2014.
2. ^ American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). Washington, DC: Author.
3. ^ Reed, Geoffrey M.; Drescher, Jack; Krueger, Richard B.; Atalla, Elham; Cochran, Susan D.; First, Michael B.; Cohen-Kettenis, Peggy T.; Arango-de Montis, Iván; Parish, Sharon J.; Cottler, Sara; Briken, Peer; Saxena, Shekhar (2016). "Disorders related to sexuality and gender identity in the ICD-11: revising the ICD-10 classification based on current scientific evidence, best clinical practices, and human rights considerations". World Psychiatry. 15 (3): 205–221. doi:10.1002/wps.20354. ISSN 1723-8617. PMC 5032510.
## External links[edit]
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D
* ICD-10: F64.1
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* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Dual-role transvestism | None | 29,482 | wikipedia | https://en.wikipedia.org/wiki/Dual-role_transvestism | 2021-01-18T19:10:54 | {"umls": ["CL440236"], "icd-10": ["F64.1"], "wikidata": ["Q10384302"]} |
High triglyceride blood levels
Hypertriglyceridemia
Triglyceride, which cause hypertriglyceridemia at high level
SpecialtyEndocrinology
Hypertriglyceridemia denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms. Elevated levels of triglycerides are associated with atherosclerosis, even in the absence of hypercholesterolemia (high cholesterol levels), and predispose to cardiovascular disease. Very high triglyceride levels also increase the risk of acute pancreatitis. Hypertriglyceridemia itself is usually symptomless, although high levels may be associated with skin lesions known as xanthomas.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Screening
* 5 Treatment
* 6 Epidemiology
* 7 See also
* 8 References
## Signs and symptoms[edit]
Blood samples of a young patient with extreme hypertriglyceridemia
Most people with elevated triglycerides experience no symptoms. Some forms of primary hypertriglyceridemia can lead to specific symptoms: both familial chylomicronemia and primary mixed hyperlipidemia include skin symptoms (eruptive xanthoma), eye abnormalities (lipemia retinalis), hepatosplenomegaly (enlargement of the liver and spleen), and neurological symptoms. Some experience attacks of abdominal pain that may be mild episodes of pancreatitis. Eruptive xanthomas are 2–5 mm papules, often with a red ring around them, that occur in clusters on the skin of the trunk, buttocks and extremities.[2] Familial dysbetalipoproteinemia causes larger, tuberous xanthomas; these are red or orange and occur on the elbows and knees. Palmar crease xanthomas may also occur.[1][2]
The diagnosis is made on blood tests, often performed as part of screening. Once diagnosed, other blood tests are usually required to determine whether the raised triglyceride level is caused by other underlying disorders ("secondary hypertriglyceridemia") or whether no such underlying cause exists ("primary hypertriglyceridaemia"). There is a hereditary predisposition to both primary and secondary hypertriglyceridemia.[1]
Acute pancreatitis may occur in people whose triglyceride levels are above 1000 mg/dL (11.3 mmol/L).[1][2][3] Hypertriglyceridemia is associated with 1–4% of all cases of pancreatitis. The symptoms are similar to pancreatitis secondary to other causes, although the presence of xanthomas or risk factors for hypertriglyceridemia may offer clues.[3]
## Causes[edit]
* Overeating[4][5]
* Obesity
* Diabetes mellitus and insulin resistance \- it is one of the defined components of metabolic syndrome (along with central obesity, hypertension, and hyperglycemia)
* Excess alcohol consumption
* Kidney failure, nephrotic syndrome
* Genetic predisposition; some forms of familial hyperlipidemia such as familial combined hyperlipidemia i.e. Type II hyperlipidemia
* Lipoprotein lipase deficiency \- Deficiency of this water-soluble enzyme, that hydrolyzes triglycerides in lipoproteins, leads to elevated levels of triglycerides in the blood.
* Lysosomal acid lipase deficiency or Cholesteryl ester storage disease
* Certain medications e.g. isotretinoin, hydrochlorothiazide diuretics, beta blockers, protease inhibitors
* Hypothyroidism (underactive thyroid)
* Lupus and associated autoimmune responses [6]
* Glycogen storage disease type 1.
* Propofol
* HIV medications
## Diagnosis[edit]
The diagnosis is made on blood tests, often performed as part of screening. The normal triglyceride level is less than 150 mg/dL (1.7 mmol/L).[1][5] Once diagnosed, other blood tests are usually required to determine whether the raised triglyceride level is caused by other underlying disorders ("secondary hypertriglyceridemia") or whether no such underlying cause exists ("primary hypertriglyceridaemia"). There is a hereditary predisposition to both primary and secondary hypertriglyceridemia.[1]
## Screening[edit]
In 2016 the United States Preventive Services Task Force concluded that testing the general population under the age of 40 without symptoms is of unclear benefit.[7][8]
## Treatment[edit]
Lifestyle changes including weight loss, exercise and dietary modification may improve hypertriglyceridemia.[1][9][10] This may include restriction of carbohydrates (specifically fructose)[9] and fat in the diet and the consumption of omega-3 fatty acids from algae, nuts, and seeds.[11][12]
The decision to treat hypertriglyceridemia with medication depends on the levels and on the presence of other risk factors for cardiovascular disease. Very high levels that would increase the risk of pancreatitis is treated with a drug from the fibrate class. Niacin and omega-3 fatty acids as well as drugs from the statin class may be used in conjunction, with statins being the main drug treatment for moderate hypertriglyceridemia where reduction of cardiovascular risk is required.[1] Medications are recommended in those with high levels of triglycerides that are not corrected with lifestyle modifications, with fibrates being recommended first.[1][13][14] Epanova (omega-3-carboxylic acids) is another prescription drug used to treat very high levels of blood triglycerides.[15]
## Epidemiology[edit]
As of 2006, the prevalence of hypertriglyceridemia in the United States was 30%.[5]
## See also[edit]
* Remnant cholesterol
## References[edit]
1. ^ a b c d e f g h i Berglund L, Brunzell JD, Goldberg AC, et al. (September 2012). "Evaluation and treatment of hypertriglyceridemia: an endocrine society clinical practice guideline". J. Clin. Endocrinol. Metab. 97 (9): 2969–89. doi:10.1210/jc.2011-3213. PMC 3431581. PMID 22962670.
2. ^ a b c Yuan G, Al-Shali KZ, Hegele RA (April 2007). "Hypertriglyceridemia: its etiology, effects and treatment". CMAJ. 176 (8): 1113–20. doi:10.1503/cmaj.060963. PMC 1839776. PMID 17420495.
3. ^ a b Tsuang W, Navaneethan U, Ruiz L, Palascak JB, Gelrud A (April 2009). "Hypertriglyceridemic pancreatitis: presentation and management". Am. J. Gastroenterol. 104 (4): 984–91. doi:10.1038/ajg.2009.27. PMID 19293788.
4. ^ Garg, A; Grundy, SM; Unger, RH (Oct 1992). "Comparison of effects of high and low carbohydrate diets on plasma lipoproteins and insulin sensitivity in patients with mild NIDDM". Diabetes. 41 (10): 1278–85. doi:10.2337/diabetes.41.10.1278. PMID 1397701.
5. ^ a b c Pejic RN, Lee DT (May–Jun 2006). "Hypertriglyceridemia". J Am Board Fam Med. 19 (3): 310–6. doi:10.3122/jabfm.19.3.310. PMID 16672684.
6. ^ Beigneux, Anne P.; Miyashita, Kazuya; Ploug, Michael; Blom, Dirk J.; Ai, Masumi; Linton, Macrae F.; Khovidhunkit, Weerapan; Dufour, Robert; Garg, Abhimanyu; McMahon, Maureen A.; Pullinger, Clive R.; Sandoval, Norma P.; Hu, Xuchen; Allan, Christopher M.; Larsson, Mikael; Machida, Tetsuo; Murakami, Masami; Reue, Karen; Tontonoz, Peter; Goldberg, Ira J.; Moulin, Philippe; Charrière, Sybil; Fong, Loren G.; Nakajima, Katsuyuki; Young, Stephen G. (August 27, 2017). "Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia". NEJM. 376 (17): 1647–1658. doi:10.1056/NEJMoa1611930. PMC 5555413. PMID 28402248.
7. ^ Chou, Roger; Dana, Tracy; Blazina, Ian; Daeges, Monica; Bougatsos, Christina; Jeanne, Thomas L. (9 August 2016). "Screening for Dyslipidemia in Younger Adults: A Systematic Review for the U.S. Preventive Services Task Force". Annals of Internal Medicine. 165 (8): 560–564. doi:10.7326/M16-0946. PMID 27538032.
8. ^ Bibbins-Domingo, Kirsten; Grossman, David C.; Curry, Susan J.; Davidson, Karina W.; Epling, John W.; García, Francisco A. R.; Gillman, Matthew W.; Kemper, Alex R.; Krist, Alex H.; Kurth, Ann E.; Landefeld, C. Seth; Lefevre, Michael; Mangione, Carol M.; Owens, Douglas K.; Phillips, William R.; Phipps, Maureen G.; Pignone, Michael P.; Siu, Albert L. (August 9, 2016). "Screening for Lipid Disorders in Children and Adolescents". JAMA. 316 (6): 625–33. doi:10.1001/jama.2016.9852. PMID 27532917.
9. ^ a b Nordestgaard, BG; Varbo, A (August 2014). "Triglycerides and cardiovascular disease". The Lancet. 384 (9943): 626–635. doi:10.1016/S0140-6736(14)61177-6. PMID 25131982.
10. ^ GILL, Jason; Sara HERD; Natassa TSETSONIS; Adrianne HARDMAN (Feb 2002). "Are the reductions in triacylglycerol and insulin levels after exercise related?". Clinical Science. 102 (2): 223–231. doi:10.1042/cs20010204. PMID 11834142.
11. ^ Davidson, MH (28 January 2008). "Pharmacological Therapy for Cardiovascular Disease". In Davidson, Michael H; Toth, Peter P; Maki, Kevin C (eds.). Therapeutic Lipidology. Contemporary Cardiology. Cannon, Christopher P.; Armani, Annemarie M. Totowa, New Jersey: Humana Press, Inc. pp. 141–142. ISBN 978-1-58829-551-4.
12. ^ Anagnostis, P; Paschou, SA; Goulis, DG; Athyros, VG; Karagiannis, A (February 2018). "Dietary management of dyslipidaemias. Is there any evidence for cardiovascular benefit?". Maturitas. 108: 45–52. doi:10.1016/j.maturitas.2017.11.011. PMID 29290214.
13. ^ Abourbih S, Filion KB, Joseph L, Schiffrin EL, Rinfret S, Poirier P, Pilote L, Genest J, Eisenberg MJ (2009). "Effect of fibrates on lipid profiles and cardiovascular outcomes: a systematic review". Am J Med. 122 (10): 962.e1–962.e8. doi:10.1016/j.amjmed.2009.03.030. PMID 19698935.
14. ^ Jun M, Foote C, Lv J (2010). "Effects of fibrates on cardiovascular outcomes: a systematic review and meta-analysis". Lancet. 375 (9729): 1875–1884. doi:10.1016/S0140-6736(10)60656-3. PMID 20462635.
15. ^ Blair HA, Dhillon S (2014). "Omega-3 carboxylic acids (Epanova): a review of its use in patients with severe hypertriglyceridemia". Am J Cardiovasc Drugs. 14: 393–400. doi:10.1007/s40256-014-0090-3. PMID 25234378.
Classification
D
* ICD-10: E78.1, E78.2, E78.3
* ICD-9-CM: 272.1
* OMIM: 145750
* MeSH: D015228
* DiseasesDB: 6372
External resources
* MedlinePlus: 000397
* eMedicine: med/2921 article/126568
* v
* t
* e
Inborn error of lipid metabolism: dyslipidemia
Hyperlipidemia
* Hypercholesterolemia/Hypertriglyceridemia
* Lipoprotein lipase deficiency/Type Ia
* Familial apoprotein CII deficiency/Type Ib
* Familial hypercholesterolemia/Type IIa
* Combined hyperlipidemia/Type IIb
* Familial dysbetalipoproteinemia/Type III
* Familial hypertriglyceridemia/Type IV
* Xanthoma/Xanthomatosis
Hypolipoproteinemia
Hypoalphalipoproteinemia/HDL
* Lecithin cholesterol acyltransferase deficiency
* Tangier disease
Hypobetalipoproteinemia/LDL
* Abetalipoproteinemia
* Apolipoprotein B deficiency
* Chylomicron retention disease
Lipodystrophy
* Barraquer–Simons syndrome
Other
* Lipomatosis
* Adiposis dolorosa
* Lipoid proteinosis
* APOA1 familial renal amyloidosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hypertriglyceridemia | c0020557 | 29,483 | wikipedia | https://en.wikipedia.org/wiki/Hypertriglyceridemia | 2021-01-18T18:45:45 | {"mesh": ["D015228"], "umls": ["C1522137"], "icd-9": ["272.1"], "icd-10": ["E78.3", "E78.1", "E78.2"], "wikidata": ["Q1467339"]} |
Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Acroosteolysis dominant type | c2930971 | 29,484 | gard | https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type | 2021-01-18T18:02:20 | {"mesh": ["C535663"], "omim": ["102500"], "umls": ["C2930971"], "orphanet": ["955"], "synonyms": ["Acroosteolysis with osteoporosis and changes in skull and mandible", "Arthrodentoosteodysplasia", "Cheney syndrome", "Hajdu-Cheney syndrome", "Serpentine fibula-polycystic kidneys syndrome"]} |
## Summary
### Clinical characteristics.
Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described:
* Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life.
* Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years).
* Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation.
Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.
### Diagnosis/testing.
The diagnosis of multiple sulfatase deficiency is established in a proband with low activity levels in at least two sulfatase enzymes and/or biallelic pathogenic variants in SUMF1 identified by molecular genetic testing.
### Management.
Treatment of manifestations: Progressive hydrocephalus, seizures, spasticity, spine instability or stenosis, eye anomalies, cardiovascular disease, hearing loss, poor growth, dental anomalies, developmental delays, and respiratory issues are managed in the standard fashion. Obstructive sleep apnea may be treated with adenoidectomy and/or tonsillectomy, although affected individuals have a higher surgical complication rate; ventilator support (CPAP, BiPAP) can also be considered. Precautions are needed during anesthesia to address airway maintenance, as progressive upper airway obstruction and cervical spine instability are common. Poor bone health may require supplementation with vitamin D and encouragement of weight-bearing exercises. Alternative routes for nutrition (tube feeding) are frequently necessary.
Surveillance: Monitoring of head circumference at each visit; serial brain/spine imaging, as needed based on symptoms; cervical spine imaging prior to any procedure that requires neck extension. At least annual vitamin D level, eye examination with intraocular pressure measurement, EKG, echocardiogram, and audiology evaluation. Abdominal ultrasound, sleep study and pulmonary function tests, neuropsychiatric testing, and assessment of blood and urine acid-base balance as clinically indicated.
Agents/circumstances to avoid: Neck hyperextension (including hyperextension used for intubation) because of the risk of spinal cord compression; foods that are a choking hazard.
### Genetic Counseling.
Multiple sulfatase deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% change of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible using molecular genetic techniques if the pathogenic variants in the family are known.
## Diagnosis
Formal clinical diagnostic criteria for multiple sulfatase deficiency have not been established.
### Suggestive Findings
Multiple sulfatase deficiency should be suspected in individuals with the following clinical, laboratory, and imaging findings.
Clinical findings
* Developmental delay with subsequent neurologic regression and psychomotor retardation
* Macrocephaly with or without hydrocephalus
* Epilepsy
* Poor growth with a progressive decrease in growth rate
* Coarse facial features
* Recurrent otitis media and/or upper respiratory tract infections
* Progressive hearing loss
* Hepatosplenomegaly
* Skeletal changes including kyphosis, gibbus deformity, hip dislocation, genu valgum
* Cardiac hypertrophy or thickening of cardiac valves
* Ichthyosis
Laboratory findings
* Decreased activity of at least two sulfatase enzymes on lysosomal enzyme testing analysis
Note: Individual enzyme activities may be higher than those seen in individuals with single enzyme deficiencies and some may be within normal ranges.
* Elevated urinary glycosaminoglycan levels
* Elevated urinary sulfatides
Imaging findings
* Abnormal brain MRI showing progressive demyelination, prominence of the perivascular spaces, cerebral volume loss, and/or hydrocephalus
* Skeletal radiographs demonstrating features of dysostosis multiplex including anomalies of the vertebrae, hands, feet, long bones, and skull
### Establishing the Diagnosis
The diagnosis of multiple sulfatase deficiency is established in a proband with low activity levels in at least two sulfatase enzymes and/or biallelic pathogenic variants in SUMF1 identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or multigene panels) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of multiple sulfatase deficiency is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of multiple sulfatase deficiency has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of multiple sulfatase deficiency, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of SUMF1 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected.
Perform sequence analysis first. If only one or no pathogenic variant is found perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.
* A multigene panel that includes SUMF1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in unrelated genes. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene may vary by laboratory. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of multiple sulfatase deficiency is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is the most commonly used genomic testing method; genome sequencing is also possible.
Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Multiple Sulfatase Deficiency
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by This Method
SUMF1Sequence analysis 3~98%-99% 5
Gene-targeted deletion/duplication analysis 4~1.5% 5
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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\.
Review of all available cases in the literature revealed three large deletions and no duplications out of 201 alleles [Author observation, in preparation for publication].
## Clinical Characteristics
### Clinical Description
Multiple sulfatase deficiency (MSD) is a multisystem lysosomal storage disorder with variable age of onset and wide variability in clinical presentation and rate of progression. Initial symptoms can present from infancy through early childhood [Sabourdy et al 2015, Ahrens-Nicklas et al 2018]. Many individuals experience global regression between age two and six years, approximately 12-60 months after symptom onset. Earlier onset of regression correlates with increased disease severity [Sabourdy et al 2015]. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders, while others present primarily with neurologic regression (see Pathophysiology).
#### Natural History
Based on age of onset, rate of progression and disease severity, several different subtypes of MSD have been described [Eto et al 1987]. The severity of the condition may correlate with the stability of the enzyme and residual enzyme activity (see Genotype-Phenotype Correlations). The subtypes are as follows.
Neonatal MSD is the most severe form, in which affected Individuals typically have intrauterine growth restriction and respiratory distress at birth [Busche et al 2009, Garavelli et al 2014]. Dysmorphic features may include coarse facial features, thick eyebrows, hypoplastic nasal bone, bulbous nasal tip, posteriorly rotated ears, high arched palate, micrognathia, retrognathia, flared thorax, inverted nipples, and broad thumbs. Corneal clouding is frequently present. Disease progression is rapid and mortality is high, with death typically occurring within the first two years of life [Burch et al 1986, Busche et al 2009].
Infantile MSD, the most common clinical presentation, is characterized by progressive neurodegeneration with loss of sensory and motor skills, similar to arylsulfatase A deficiency (metachromatic leukodystrophy). Typically, symptom onset is within the first three years of life. This phenotype may be further subdivided into attenuated (formally called "mild") and severe subtypes.
* Attenuated infantile MSD is characterized by a slower clinical course in which affected individuals are noted to have growth deficiency (1.5-3 SD below the mean), feeding difficulties, and developmental delay [Ahrens-Nicklas et al 2018], with cognitive disability and neurodegeneration identified in the second year of life (range 3-36 months).
* The ability to ambulate and communicate with a limited vocabulary may be preserved into late childhood (age 3-9 years), although by age nine most have significant impairments.
* Among eight individuals with infantile MSD, all demonstrated psychomotor retardation, hypotonia, and neurodegeneration, while 75% had ichthyosis and 25% had dysmorphic features [Sabourdy et al 2015]. In a second series, nine individuals identified to have infantile MSD all demonstrated cognitive delay, neurodegeneration, and ichthyosis [Schlotawa et al 2011].
* Dysmorphic features, if present, are subtle but may become more prominent with age.
* Prenatal manifestations, hepatosplenomegaly, and corneal clouding are rare [Sabourdy et al 2015].
* Severe infantile MSD is characterized by a faster rate of disease progression and more extensive systemic involvement. Symptoms present within the first year of life and most individuals lose a majority of developmental milestones by age five years [Sabourdy et al 2015, Jaszczuk et al 2017].
* Dysmorphic features, skeletal changes, and organomegaly are common [Schlotawa et al 2011].
* Life span is significantly shortened, and many die within the first decade of life.
Juvenile MSD is a rare subtype, although this could be influenced by ascertainment bias. It has a later onset with an attenuated clinical presentation. The diagnosis can sometimes be difficult to make owing to borderline residual sulfatase activity [Church et al 2018]. Brain MRI findings are nonspecific and may include white matter signal abnormalities, corpus callosum thinning, and cerebellar atrophy.
* Age of onset is between three and seven years with an insidious clinical presentation and neurologic decline.
* Presenting symptoms can include generalized tremor, hypotonia, and mild-moderate developmental delays [Sabourdy et al 2015].
* Affected individuals can also develop ichthyosis, visual loss (although corneal clouding is rare), and behavioral abnormalities, and may have minor dysmorphic features (broad thumbs and index fingers) that frequently become more prominent with age [Blanco-Aguirre et al 2001].
* The oldest known person with the condition survived until the fourth decade of life [Author, personal communication].
* Individuals with juvenile MSD can retain the ability to walk into their teenage years.
#### Clinical Features Common To All Subtypes
Many of the features found in MSD can be progressive, including the neurologic deterioration, heart disease, hearing loss, and airway compromise. The progressive nature of the disease is at least in part due to the accumulation of glycosaminoglycans (GAGs) and other substrates, including sulfatides.
Neurologic features include:
* Developmental delay and progressive neurologic deterioration, including long track signs (spasticity)
* Ataxia
* Autistic features
* Epilepsy [Incecik & Herguner 2017]
* Microcephaly [Miskin et al 2016] or macrocephaly; hydrocephalus has been reported [Incecik & Herguner 2017].
Musculoskeletal features:
* Short stature
* Irregular ribs (typically paddle-shaped with widening anteriorly and tapering posteriorly) associated with dysostosis multiplex
* Scoliosis and/or kyphosis
* Vertebral abnormalities, including odontoid dysplasia, atlanto-axial instability, cervical spinal canal stenosis, and vertebral body abnormalities (wedge-shaped vertebral bodies, anterior beaking with posterior scalloping, and platyspondyly)
* Vertebral instability and risk of spinal cord compression, which can be dangerous with neck hyperextension (such as occurs during intubation)
* Short metacarpals
* Joint stiffness and contractures, which may pose a prominent issue that can impede mobility [Burk et al 1984]
* Broad thumbs and toes [Santos & Hoo 2006]
Growth restriction may be of prenatal onset, particularly in the neonatal form [Incecik et al 2013, Sabourdy et al 2015].
Ophthalmologic features:
* Glaucoma
* Strabismus
* Retinal degeneration
* Corneal clouding
* Cataracts
* Retinitis pigmentosa [Sabourdy et al 2015]
* Myopia
Cardiovascular manifestations may include atrial septal defects [Incecik et al 2013] and aortic insufficiency [Guerra et al 1990]. Individuals with MSD are at risk of developing cardiac manifestations similar to those seen in other lysosomal storage disorders: secondary valve disease, cardiac hypertrophy, coronary artery disease, arrhythmias, and hypertension [Braunlin et al 2011, Sabourdy et al 2015, Jaszczuk et al 2017].
Ear, nose, and throat. Progressive conductive and/or sensorineural hearing loss and recurrent otitis media are common [Sabourdy et al 2015].
Skin. Ichthyosis (dry, scaly skin) and hypertrichosis are common [Incecik et al 2013].
Dental abnormalities can be detected early in life and are progressive. They can include thin enamel of deciduous and permanent teeth, dark discoloration of dentin, malocclusion, and anterior open bite [Zilberman & Bibi 2016].
Gastrointestinal system. Many affected individuals develop hepatosplenomegaly, which is possibly secondary to GAG accumulation. Swallowing dysfunction may lead to sialorrhea and feeding difficulties. Many individuals require feeding tubes to safely and efficiently meet their caloric needs.
Respiratory. Individuals are at risk of progressive upper airway obstruction. Many individuals experience both central and peripheral sleep apnea. Individuals are also at risk for aspiration pneumonia.
Metabolic acidosis. Loss of arylsulfatase A (ARSA) activity has been associated with renal dysfunction and increased predisposition to metabolic acidosis [Lorioli et al 2015]. The true risk in MSD is not currently known, but given that most affected individuals have decreased ARSA activity, this should be considered.
Brain MRI features. The most common findings are white matter (periventricular) abnormalities with U fiber sparing, radiating stripes, and severe white matter atrophy [Prasad et al 2014]. Other abnormal imaging findings include [van der Knaap & Valk 2013, Sabourdy et al 2015, Ahrens-Nicklas et al 2018]:
* Cerebral atrophy and/or cerebellar atrophy
* Abnormalities of the corpus callosum
* Dilatation of the ventricular system
* Prominence of the sulci
* Enlarged perivascular spaces
* Cervical cord compression
* Delayed myelination
### Pathophysiology
The wide clinical spectrum seen in MSD is largely a function of the unique pathophysiology of this condition, as multiple pathways are affected by a common enzymatic defect. All known 17 human sulfatases may be affected; thus, the clinical presentation is a composite of the effects of each individual sulfatase deficiency [Hopwood & Ballabio 2001]. Of these sulfatases, nine have each been implicated in distinct human diseases (albeit with overlapping features) [Dierks et al 2009, Khateb et al 2018]. The clinical presentation is a combination of these nine enzymatic defects, with affected individuals having signs and symptoms of arylsulfatase A deficiency (metachromatic leukodystrophy), Maroteaux-Lamy syndrome, X-linked ichthyosis, mucopolysaccharidosis type II (Hunter syndrome), mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), and mucopolysaccharidosis type IVA (Morquio syndrome). The contribution to clinical phenotype from the sulfatases without a clinically defined phenotype is unknown.
### Genotype-Phenotype Correlations
Sulfatase-modifying-factor-1 (SUMF1) protein stability and residual formylglycine-generating enzyme (FGE) activity influence the clinical presentation in individuals with pathogenic changes in SUMF1. Individuals with unstable SUMF1 protein and low residual FGE activity display a severe late-infantile onset phenotype with rapid progression of MSD and neurologic deterioration. Individuals with higher levels of residual FGE enzyme activity often have attenuated forms of MSD with fewer symptoms, slower disease progression, and later onset of regression. Biallelic nonsense variants and deletions have been reported and are associated with a severe neonatal presentation [Schlotawa et al 2008, Schlotawa et al 2013, Sabourdy et al 2015].
For a small subset of pathogenic missense variants, experimental evidence for residual SUMF1 activity and FGE stability has been published and specific genotype-phenotype correlations exist.
* Homozygosity for the p.Gly263Val or p.Ala279Val SUMF1 alleles is associated with attenuated late-infantile MSD.
* Homozygosity for the p.Ser155Pro, p.Gly247Arg, or p.Arg349Trp SUMF1 alleles is associated with severe late-infantile MSD [Cosma et al 2004, Schlotawa et al 2008, Schlotawa et al 2011, Schlotawa et al 2013].
Non-experimental prediction methods attempting to correlate a particular SUMF1 variant with FGE stability and clinical phenotype are not exact. There is no reliable genotype-phenotype correlation possible for affected individuals with compound heterozygous pathogenic missense variants. Finally, laboratory parameters, especially single sulfatase activity, GAG, and sulfatide levels, do not correlate well with the clinical presentation and can be normal in some cases [Sabourdy et al 2015, Ahrens-Nicklas et al 2018].
### Nomenclature
Other terms used to describe MSD are Austin disease (named after Dr James Austin, who first described the condition [Austin et al 1964]), juvenile sulfatidosis, and mucosulfatidosis.
### Prevalence
The estimated prevalence of MSD is one in 1.4 million individuals. There have been approximately 75-100 cases reported to date [Hopwood & Ballabio 2001, Ahrens-Nicklas et al 2018], with approximately 50 living affected individuals identified through support and advocacy groups. MSD has been reported in individuals of all ethnicities throughout the world [Artigalás et al 2009, Incecik et al 2013, Meng et al 2013, Garavelli et al 2014]. It is likely that this condition is underrecognized and underdiagnosed, particularly in areas of the world where access to advanced molecular genetic testing is not readily available.
## Differential Diagnosis
### Table 2.
Disorders to Consider in the Differential Diagnosis of Multiple Sulfatase Deficiency (MSD)
View in own window
DisorderGene(s)MOIClinical Features of Differential Diagnosis Disorder
Overlapping w/MSDDistinguishing from MSD
Arylsulfatase A deficiency (metachromatic leukodystrophy; MLD)ARSAARAll MLD features can be found in MSD, incl central & peripheral demyelination & progressive neurologic deteriorationAbsence of other systemic findings assoc w/MSD
Saposin B deficiency
(OMIM 249900)PSAPARAll saposin B deficiency features can be found in MSD, incl central & peripheral demyelination & progressive neurologic deteriorationAbsence of other systemic findings assoc w/MSD
Mucolipidosis II (I-cell disease)GNPTABARSevere infantile onset, progressive neurologic deterioration, skeletal deformities (incl dysostosis multiplex), postnatal growth restriction, cardiac involvement, skin thickening, recurrent ear infectionsSevere contractures (although joint mobility issues may be seen in MSD)
Krabbe diseaseGALCARCentral & peripheral demyelination, progressive neurologic deteriorationAbsence of: cardiac & ophthalmologic complications, skeletal involvement (incl dysostosis multiplex), ichthyosis, hydrocephalus, hepatosplenomegaly, oral & dental issues, hearing loss, recurrent ear infections, upper airway obstruction
Alexander diseaseGFAPADCentral demyelination & hydrocephalus, progressive neurologic deteriorationAbsence of: cardiac & ophthalmologic complications, skeletal involvement (incl dysostosis multiplex), ichthyosis, hepatosplenomegaly, oral & dental issues, hearing loss, recurrent ear infections, upper airway obstruction
Canavan diseaseASPAARCentral demyelination, progressive neurologic deterioration, macrocephalyAbsence of: cardiac & ophthalmologic complications, skeletal involvement (incl dysotosis multiplex), ichthyosis, hepatosplenomegaly, oral & dental issues, hearing loss, recurrent ear infections, upper airway obstruction
Fucosidosis
(OMIM 230000)FUCA1ARProgressive neurologic deterioration, dysostosis multiplex, coarse facial featuresAbsence of: cardiac & ophthalmologic complications, ichthyosis, hepatosplenomegaly, oral & dental issues, hearing loss, recurrent ear infections, upper airway obstruction
MPS I 1IDUAARDD, skeletal involvement, growth restriction, corneal clouding, cardiac involvement, hepatosplenomegaly, dysmorphic featuresFacial dysmorphic features & cardiac involvement are more prominent in MPS I.
MPS II (Hunter syndrome)IDSXLDD, short stature, skeletal involvement, hepatosplenomegaly, dysmorphic featuresAffected females are rare.
Corneal clouding is not a typical feature.
MPS III (Sanfilippo syndrome)
(OMIM 252900, 252920, 252930, 252940)GNS
HGSNAT
NAGLU
SGSHARNeurodegeneration, DD, hepatosplenomegaly (<50% of individuals w/Sanfilippo syndrome)May have slower, more insidious course presenting mainly w/cognitive & neurologic signs & symptoms
MPS IV (Morquio syndrome)
(see MPS IVA, GLB1-Related Disorders)GALNS
GLB1ARSkeletal involvement, hearing loss, facial dysmorphic featuresMore severe skeletal involvement;
MPS IVA does not present w/ID.
MPS VI (Maroteaux-Lamy syndrome)
(OMIM 253200)ARSBARDysmorphic features, hepatosplenomegaly, short stature, corneal clouding, skeletal involvementMore severe skeletal involvement;
Absence of ID
X-linked ichthyosis
(OMIM 308100)STSXLCorneal opacities, ichthyosisAffected females are rare.
Absence of DD & neurodegeneration
Chondrodysplasia punctata 1, X-linkedARSL (ARSE)XLRDD in 15%-20% of affected individuals, short stature, epiphyseal stippling, cataracts, hearing lossAffected females are rare.
Characteristic facial appearance;
Absence of neurodegeneration
Hexosaminidase A deficiency (Tay-Sachs disease)HEXAARProgressive neurodegeneration, DD, spasticity, blindness, death in infancyCherry red spot of the fovea 2;
Absence of skeletal abnormalities & hepatomegaly
Hexosaminidase A/B deficiency (Sandhoff disease)
(OMIM 268800)HEXBARProgressive neurodegeneration, DD, spasticity, blindness, death in infancyCherry red spot & ↑ startle response 3; hepatomegaly & skeletal abnormalities are less common than in MSD
AD = autosomal dominant, AR = autosomal recessive, MOI = mode of inheritance: XL = X-linked; DD = developmental delay; ID = intellectual disability; MPS = mucopolysaccharidosis
1\.
Severe or attenuated MPS I; Note: while individuals with MPS I have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I.
2\.
Cherry red spot of the fovea is not a typical finding in MSD.
3\.
Cherry red spot and increased startle response are not typical findings in MSD.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with multiple sulfatase deficiency, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 3.
Recommended Evaluations Following Initial Diagnosis in Individuals with Multiple Sulfatase Deficiency
View in own window
System/ConcernEvaluationComment
NeurologicConsultation w/neurologistDue to risk for central & peripheral demyelination, seizures, & hydrocephalus
Consideration of brain imaging
* To assess for hydrocephalus w/↑ intracranial pressure
* Consider urgent head imaging for any rapid neurologic changes.
EEGIf seizures are suspected
MusculoskeletalConsideration of spine imaging (radiographs &/or MRI), including C-spine images
* To assess for spine instability or stenosis leading to cord compression
* Consultation w/neurosurgeon as indicated
Assessment of overall bone health w/consideration of 25(OH) vitamin D levelsIf clinical concerns, additional testing (e.g., DEXA scan) can be obtained.
OphthalmologicConsultation w/ophthalmologist for evaluation of eye complications & measurement of intraophthalmic pressureTo assess for glaucoma, corneal clouding, retinopathy, strabismus, optic nerve abnormalities, and cataracts
CardiovascularConsultation w/cardiologist for baseline EKG & echocardiogramTo assess for presence of cardiac hypertrophy, cardiac valve issues, arrhythmias, and hypertension
OtolaryngologicAudiologic evaluation, w/consideration of brain stem auditory-evoked response testingTo assess for hearing loss
Consultation w/otolaryngologists if neck manipulation &/or anesthesia is neededConsideration of direct airway visualization & C-spine imaging due to progressive airway obstruction (particularly w/neck hyperextension)
SkinConsider consultation w/dermatologist.For those w/severe skin involvement or concerns for secondary infections
DentalConsider consultation w/pediatric dentist.To assess for tooth enamel abnormalities &/or hyperplastic gums
GastrointestinalAssessment of growth parameters & feeding abilityMany individuals w/MSD are unable to safely & efficiently meet caloric needs by mouth; consider alternate routes (e.g., gastrostomy tubes).
Consideration of baseline swallowing studyTo assess for swallowing dysfunction
Abdominal ultrasound & serum liver enzyme testing 1To assess for hepatosplenomegaly & liver dysfunction
RespiratoryConsideration of baseline sleep studyTo assess for obstructive sleep apnea
Consideration of pulmonary function assessment, end tidal CO2, &/or bronchoscopyTo assess for obstructive &/or restrictive airway disease, central &peripheral apneas, recurrent pneumonia, & tracheomalacia
Renal/metabolicAs the renal dysfunction is under-characterized at this time, labs should be obtained as clinically indicated.Consider consultation w/nephrologist for those w/metabolic acidosis.
DevelopmentalDevelopmental assessmentTo include assessment of age-appropriate motor, speech/language, cognitive skills
Miscellaneous/
OtherBaseline measurement of sulfatase activity, urinary extretion of sulfatide, & GAGsMeasurement of levels not needed for clinical monitoring
Consultation w/clinical geneticist &/or genetic counselor
DEXA = dual energy x-ray absorptiometry; GAGs = glycosaminoglycans
1\.
Measurement of serum AST, ALT, and GGT
### Treatment of Manifestations
A detailed clinical management guide was recently published delineating a symptomatic management strategy [Ahrens-Nicklas et al 2018] (full text).
While there are no targeted therapeutic options to date, many complications are amenable to symptomatic management [Adang et al 2017]. An individualized care plan can be designed by the primary and specialist providers. In addition to the primary care provider, the care team will often include neurologists, metabolic geneticists with genetic counselors, gastroenterologists, ophthalmologists, cardiologists, and physiatrists. Additional care providers may include speech therapists, occupational therapists, physical therapists, nutritionists, and dentists. Special efforts should be made to maintain mobility and social communication skills until such skills are lost.
### Table 4.
Treatment of Manifestations in Individuals with Multiple Sulfatase Deficiency
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Progressive hydrocephalusStandard management by neurosurgeryUrgent head imaging should be considered in anyone w/sudden changes in neurologic status (e.g., altered mental status, ↑ vomiting)
SeizuresStandard antiepileptic medication 1
SpasticityStandard therapeutic options may include baclofen &/or botulinum toxin type A.Physical therapy & physiatry consultations for optimization of mobility & tone
Spine instability or stenosisReferral to orthopedist &/or neurosurgeon
Poor bone healthSupplementation w/vitamin DConsider referral to endocrinology
Encourage weight-bearing exercise as tolerated.Physical therapy & physiatry consultations for optimization of mobility & tone
Glaucoma, strabismus, corneal clouding, &/or cataractsStandard treatment per ophthalmologist
Cardiac hypertrophy, cardiac valve issues, arrhythmias, & hypertensionStandard therapy per cardiologist
Hearing lossTreatment of SNHL & conductive hearing loss per ENT/audiologist 2
Anesthesia precautionsSafe airway maintenance particularly during procedures that may require neck hyperextensionDue to progressive upper-airway obstruction & risk for cervical spine instability
Assessment of airway constriction so that if required, appropriate-size devices (e.g., endotracheal tubes) are used
Poor growthStandard treatment per nutrition specialists
Feeding difficultiesConsideration of alternative routes for nutrition (e.g., NG or G-tube)Speech therapy consultation if concerns about efficiency or safety of oral feeding
GI or surgery consulation as clinically indicated
Tooth & gum anomaliesStandard treatment per pediatric dentist
Obstructive sleep apneaMany children w/MPS receive an adenoidectomy &/or tonsillectomy, although a higher complication rate should be noted.Consider referral to sleep medicine specialist &/or pulmonologist.
Some children may benefit from ventilatory support (CPAP, BiPAP).Advanced testing such as PFTs & sleep studies can be considered.
Respiratory issuesStandard treatment per pulmonologist
G = gastrostomy; NG = nasogastric; PFTs = pulmonary function tests
1\.
Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy & My Child Toolkit.
2\.
See Hereditary Hearing Loss and Deafness Overview for details about treatment options.
### Surveillance
No definitive surveillance guidelines have been established, although particular attention to and monitoring of the cardiac, respiratory, ophthalmologic, neurologic, skeletal, and gastroenterologic systems is indicated [Ahrens-Nicklas et al 2018].
### Table 5.
Surveillance to Consider for Individuals with Multiple Sulfatase Deficiency
View in own window
System/ConcernEvaluationFrequency
NeurologicHead circumference measurementAt each visit
Serial brain/spine imaging 1As needed based on symptoms
MusculoskeletalVitamin D level 2Annually or as needed
C-spine imaging (radiographs &/or MRI)Prior to any procedure (incl intubation) that requires neck extension
OphthalmologicEye examination & intraocular pressure assessmentAt least annually or as needed
CardiovascularSerial EKG & echocardiography 3At least annually
OtolaryngologicAudiology evaluationAt least annually, or as needed
Gastrointestinal/
NutritionWeight & height measurementsW/all clinical assessments
Serial abdominal ultrasound evaluation 4As clinically indicated
RespiratoryConsideration of sleep study& PFTsPeriodically
Renal/MetabolicMonitoring of blood & urine acid-base balanceAs clinically indicated & w/episodes of physiologic stress
DevelopmentalAssessment of developmental milestones & current developmental levelAt each visit
Neuropsychiatric testingAs clinically indicated
PFT = pulmonary function test
1\.
To screen for progressive hydrocephalus and/or cord compression
2\.
To monitor bone health
3\.
To monitor for cardiac hypertrophy, progressive valvular abnormalities, arrhythmia, and hypertension
4\.
With special attention to the liver, gallbladder, and spleen
### Agents/Circumstances to Avoid
Individuals should avoid neck hyperextension, including hyperextension used for intubation, because of the risk of spinal cord compression. Foods that are choking hazards should also be avoided.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
A multi-institutional natural history study is underway through the Myelin Disorders Biorepository Project (Clinical Trials Identifier: NCT03047369).
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Multiple Sulfatase Deficiency | c0268263 | 29,485 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK538937/ | 2021-01-18T21:10:06 | {"mesh": ["D052517"], "synonyms": []} |
Leukotriene C4 synthase deficiency
Leukotriene C4
Leukotriene C4 synthase deficiency is an inborn error of metabolism.[1][2]
Deficiency of Leukotriene C4 synthase can lead to a reduction in Leukotriene C4.
## References[edit]
1. ^ Mayatepek E, Flock B (November 1998). "Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome". Lancet. 352 (9139): 1514–7. doi:10.1016/S0140-6736(98)01186-6. PMID 9820300.
2. ^ Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF (June 2000). "Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism". J. Inherit. Metab. Dis. 23 (4): 404–8. doi:10.1023/A:1005664204956. PMID 10896305.
## External links[edit]
Classification
D
* OMIM: 246530
* MeSH: C565439
* v
* t
* e
Eicosanoid metabolism disorders
Prostanoids
* PTGIS (Essential hypertension)
* TBSAX1 (Ghosal hematodiaphyseal dysplasia)
Leukotrienes
* LTC4s (Leukotriene C4 synthase deficiency)
* GGT1 (Glutathionuria)
Other/ungrouped
* HPGD (Primary hypertrophic osteoathropathy)
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Leukotriene C4 synthase deficiency | c3279662 | 29,486 | wikipedia | https://en.wikipedia.org/wiki/Leukotriene_C4_synthase_deficiency | 2021-01-18T18:35:34 | {"mesh": ["C565439"], "umls": ["C1855503", "C3279662"], "orphanet": ["79507"], "wikidata": ["Q6534539"]} |
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 (127700).
Mapping
Developmental dyslexia is a neurofunctional disorder characterized by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Nopola-Hemmi et al. (2001) ascertained 140 Finnish families in which this diagnosis had been made in at least 1 individual. One pedigree consisted of 4 generations with an apparently dominant pattern of inheritance of developmental dyslexia. Affected status was confirmed by neuropsychologic testing. Affected individuals had deficits in phonologic awareness, naming speed, and verbal short-term memory. Nopola-Hemmi et al. (2001) genotyped 21 affected individuals. Multipoint linkage analysis showed linkage to the pericentromeric region of chromosome 3 with a multipoint lod score of 3.84 for the interval D3S1595 to D3S3655, corresponding to 3p12-q13. Nineteen of 21 affected individuals shared this region identical by descent.
Stein et al. (2004) hypothesized that the pericentric region of chromosome 3, which Nopola-Hemmi et al. (2001) had demonstrated to be linked with dyslexia, may contain a quantitative trait locus with pleiotropic effects extending to speech-sound disorder (SSD; 608445). In a study of 77 families ascertained through a child with SSD, linkage analysis provided data supporting that hypothesis.
Cytogenetics
Hannula-Jouppi et al. (2005) reported a patient with dyslexia and a translocation t(3;8)(p12;q11) that disrupted intron 1 of the ROBO1 gene (602430). He had 1 sib with dyslexia who did not have the translocation. However, in an unrelated family with dyslexia showing linkage to chromosome 3 (Nopola-Hemmi et al., 2001), Hannula-Jouppi et al. (2005) identified a specific SNP haplotype that segregated with dyslexia. Comparison of genomic and cDNA samples from 4 dyslexic family members showed that ROBO1 mRNA was only weakly or not at all transcribed from the allele that segregated with dyslexia, whereas biallelic expression was observed in control brain RNA. Repeated measurements showed that the mean expression of the dyslexia-associated allele was 66% of control values. Hannula-Jouppi et al. (2005) suggested that haploinsufficiency for ROBO1 may predispose humans to dyslexia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| DYSLEXIA, SUSCEPTIBILITY TO, 5 | c1847184 | 29,487 | omim | https://www.omim.org/entry/606896 | 2019-09-22T16:09:49 | {"omim": ["606896"]} |
Jervell and Lange-Nielsen syndrome
Other namesLong QT interval-deafness syndrome[1]
The features of Jervell and Lange-Nielsen syndrome include a prolonged QT interval and sensorineural deafness
SpecialtyCardiology
SymptomsBlackouts, seizures, sensorineural deafness
ComplicationsSudden death
Usual onsetCongenital
CausesGenetic
Differential diagnosisOther forms of Long QT syndrome
TreatmentBeta blockers, implantable cardioverter defibrillator
Jervell and Lange-Nielsen syndrome (JLNS) is a rare type of long QT syndrome associated with severe, bilateral sensorineural hearing loss.[2] Those with JLNS are at risk of abnormal heart rhythms called arrhythmias, which can lead to fainting, seizures, or sudden death. JLNS, like other forms of long QT syndrome, causes the cardiac muscle to take longer than usual to recharge between beats. It is caused by genetic variants responsible for producing ion channels that carry transport potassium out of cells. The condition is usually diagnosed using an electrocardiogram, but genetic testing can also be used. Treatment includes lifestyle measures, beta blockers, and implantation of a defibrillator in some cases. It was first described by Anton Jervell and Fred Lange-Nielsen in 1957.[3]
## Contents
* 1 Symptoms and signs
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 References
* 8 External links
## Symptoms and signs[edit]
Jervell and Lange-Nielsen syndrome causes severe sensorineural hearing loss from birth, affecting both ears. Those affected have a prolonged QT interval on an electrocardiogram and are at risk of abnormal heart rhythms (arrhythmias), which can cause dizziness, blackouts, or seizures.[2] In general, JLNS affects the heart more severely than other forms of long QT syndrome. 90% of those with JLNS experience arrhythmias, with 50% becoming symptomatic by the age of 3.[4] In some cases these arrhythmias lead to sudden death.[citation needed]
## Genetics[edit]
Jervell and Lange-Nielsen syndrome is inherited in an autosomal recessive manner
Jervell and Lange-Nielsen syndrome is caused by mutations in the KCNE1 and KCNQ1 genes. The proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells, which is called the slow delayed rectifier potassium current. The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.[5] JLNS is an autosomal recessive disorder meaning that two copies of the genetic mutation are required to produce the full syndrome. Mutations in the same genes can produce milder Romano-Ward forms of long QT syndrome if only a single copy of the genetic mutation has been inherited.[citation needed]
About 90% of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene, leading to Jervell and Lange-Nielsen syndrome type 1 (JLNS1). KCNE1 mutations are responsible for the remaining 10% of cases, causing Jervell and Lange-Nielsen syndrome type 2 (JLNS2). Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.[5]
Type OMIM Gene Notes
JLNS1 192500 KCNQ1 Encodes the α-subunit of the slow delayed rectifier potassium channel KV7.1 carrying the potassium current IKs. [6]
JLNS2 176261 KCNE1 Encodes MinK, a potassium channel β-subunit. [6]
## Diagnosis[edit]
ECG from a 10-year-old boy with Jervell and Lange-Nielsen syndrome
Comparison of ECGs from a single family showing unaffected family member (top), Romano-Ward syndrome (middle) and Jervell and Lange-Nielsen syndrome (bottom)
The sensorineural hearing loss in Jervell and Lange-Nielsen syndrome is present from birth and can be diagnosed using audiometry or physiological tests of hearing.[7] The cardiac features of JLNS can be diagnosed by measuring the QT interval corrected for heart rate (QTc) on a 12-lead electrocardiogram (ECG). The QTc is less than 450 ms in 95% of normal males, and less than 460 ms in 95% of normal females. In those with Jervell and Lange-Nielsen syndrome the QTc is typically greater than 500 ms.[8]
Other factors beyond the QT interval should be taken into account when making a diagnosis, some of which have been incorporated into scoring systems such as the Schwartz score. These factors include a history of characteristic abnormal heart rhythms (Torsades de Pointes), unexplained blackouts (syncope), and a family history of confirmed LQT syndrome. Genetic testing to identify variants in the KCNQ1 or KCNE1 genes can also be used.[8]
## Treatment[edit]
The risk of arrhythmias can be reduced in several ways. Medications that further prolong the QT interval such as sotalol should be avoided, as should very strenuous or competitive exercise.[2] Blood potassium levels should be kept within the normal range. Potassium supplements may be used at times when potassium is being lost such as when experiencing diarrhoea or vomiting, but medications that encourage the retention of potassium such as spironolactone or amiloride may also be required.[2][9] Beta blockers such as propranolol or nadolol reduce the risk of arrhythmias.[9]
An implantable defibrillator, a small device that monitors the heart rhythm and can automatically deliver an electric shock to restart the heart, may be used. These devices are recommended for those with JLNS who have experienced a cardiac arrest or a blackout whilst taking beta blockers.[9] Due to the higher risk of arrhythmias associated with JLNS than other forms of long QT syndrome, a defibrillator may be considered even in those without any symptoms.[9]
In those who experience recurrent arrhythmias despite medical therapy, a surgical procedure called sympathetic denervation can be used to interrupt the nerves that stimulate the heart.[2]
## Prognosis[edit]
The risk of arrhythmias is higher for those with Jervell and Lange-Nielsen syndrome than other forms of long QT syndrome.[10] Although this risk is dependent on the underlying genetic defect and degree of QT prolongation, without treatment more than 50% of those affected will die before the age of 15.[11] However, treatment with beta blockers markedly reduces the risk of death, as does, in selected cases, implantation of a defibrillator.[11]
## Epidemiology[edit]
Jervell and Lange-Nielsen syndrome affects an estimated one in 166,000 to 625,000 children, and is responsible for less than 10% of all cases of long QT syndrome. It has a markedly higher incidence in Norway and Sweden at up to one per 200,000.[5]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Jervell and Lange Nielsen syndrome". www.orpha.net. Retrieved 28 May 2019.
2. ^ a b c d e Tester DJ, Schwartz PJ, Ackerman MJ (2013). "Congenital Long QT Syndrome". In Gussak I, Antzelevitch C (eds.). Electrical Diseases of the Heart. London: Springer. pp. = 439–469. doi:10.1007/978-1-4471-4881-4_27. ISBN 978-1-4471-4881-4.
3. ^ Jervell, A.; Lange-Nielsen, F. (1957). "Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death". American Heart Journal. 54 (1): 59–68. doi:10.1016/0002-8703(57)90079-0. PMID 13435203.
4. ^ Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J. (2008-07-07). "Congenital long QT syndrome". Orphanet Journal of Rare Diseases. 3: 18. doi:10.1186/1750-1172-3-18. ISSN 1750-1172. PMC 2474834. PMID 18606002.
5. ^ a b c Tranebjaerg, L.; Samson, R.A.; Green, G.E. (1993). "Jervell and Lange-Nielsen Syndrome". GeneReviews. University of Washington, Seattle. Retrieved 29 November 2013.
6. ^ a b Giudicessi, John R.; Wilde, Arthur A. M.; Ackerman, Michael J. (October 2018). "The genetic architecture of long QT syndrome: A critical reappraisal". Trends in Cardiovascular Medicine. 28 (7): 453–464. doi:10.1016/j.tcm.2018.03.003. ISSN 1873-2615. PMC 6590899. PMID 29661707.
7. ^ Shearer, A. Eliot; Hildebrand, Michael S.; Smith, Richard JH (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Hereditary Hearing Loss and Deafness Overview", GeneReviews®, University of Washington, Seattle, PMID 20301607, retrieved 2020-05-03
8. ^ a b Tranebjærg, Lisbeth; Samson, Ricardo A.; Green, Glenn Edward (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Jervell and Lange-Nielsen Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301579, retrieved 2020-05-03
9. ^ a b c d Priori, Silvia G.; Blomström-Lundqvist, Carina; Mazzanti, Andrea; Blom, Nico; Borggrefe, Martin; Camm, John; Elliott, Perry Mark; Fitzsimons, Donna; Hatala, Robert; Hindricks, Gerhard; Kirchhof, Paulus (2015-11-01). "2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC)". European Heart Journal. 36 (41): 2793–2867. doi:10.1093/eurheartj/ehv316. ISSN 0195-668X.
10. ^ Giudicessi, John R.; Ackerman, Michael J. (October 2013). "Genotype- and phenotype-guided management of congenital long QT syndrome". Current Problems in Cardiology. 38 (10): 417–455. doi:10.1016/j.cpcardiol.2013.08.001. ISSN 1535-6280. PMC 3940076. PMID 24093767.
11. ^ a b Pabba, Krishna; Chakraborty, Rebanta K. (2019), "Jervell and Lange Nielsen Syndrome", StatPearls, StatPearls Publishing, PMID 30725985, retrieved 2019-06-17
## External links[edit]
Classification
D
* ICD-10: I45.8
* ICD-9-CM: 426.82
* OMIM: 220400
* MeSH: D029593
* DiseasesDB: 7249
External resources
* GeneReviews: Jervell and Lange-Nielsen Syndrome
* Orphanet: 90647
This article incorporates public domain text from The U.S. National Library of Medicine
* GeneReview/NIH/UW entry on Jervell and Lange-Nielsen Syndrome
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Jervell and Lange-Nielsen syndrome | c0022387 | 29,488 | wikipedia | https://en.wikipedia.org/wiki/Jervell_and_Lange-Nielsen_syndrome | 2021-01-18T19:10:06 | {"gard": ["3048"], "mesh": ["D029593"], "umls": ["C0022387"], "icd-9": ["426.82"], "orphanet": ["90647"], "wikidata": ["Q3304152"]} |
Benign tumour of dental tissue
Odontoma
Other namesOdontome[1][2][3]
SpecialtyDentistry
An odontoma, also known as an odontome, is a benign tumour[4] linked to tooth development.[5] Specifically, it is a dental hamartoma, meaning that it is composed of normal dental tissue that has grown in an irregular way. It includes both odontogenic hard and soft tissues.[1] As with normal tooth development, odontomas stop growing once mature which makes them benign.[6]
The average age of people found with an odontoma is 14.[7] The condition is frequently associated with one or more unerupted teeth and is often detected through failure of teeth to erupt at the expected time. Though most cases are found impacted within the jaw there are instances where odontomas have erupted into the oral cavity.[8]
## Contents
* 1 Types
* 2 Histopathology
* 3 Presentation
* 4 Aetiology
* 4.1 Gardner's syndrome
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Types[edit]
There are two main types: compound and complex.[9]
* A compound odontoma consists of the four separate dental tissues (enamel, dentine, cementum and pulp) embedded in fibrous connective tissue and surrounded by a fibrous capsule. It may present a lobulated appearance where there is no definitive demarcation of separate tissues between the individual "toothlets" (or denticles). Compound odontomas are usually found in the anterior maxilla and are less than 20mm in diameter.[6]
* The complex type is unrecognizable as dental hard and soft tissues, usually presenting as a radioopaque area with varying densities indicating presence of enamel. It generally appears in the posterior mandible and can grow to be several centimetres in size. [6][10]
In addition to the above forms, the dilated odontoma is an infrequent developmental alteration that appears in any area of the dental arches and can affect deciduous, permanent and supernumerary teeth. Dens invaginatus is a developmental anomaly resulting from invagination of a portion of crown forming within the enamel organ during odontogenesis. The most extreme form of dens invaginatus is known as a dilated odontoma.
There are two types of lesions which are regarded as complex odontomas with a prominent soft tissue component resembling ameloblastic fibroma. With similar presentation and treatment outcomes to complex odontomas. [6] These lesions were poorly defined previously and were removed as separate entities from the WHO Classification of Head and Neck Tumors (2017). They are now regarded as developing odontomas as histologically there are no differences. [11]
* Ameloblastic fibrodentinoma with only dentine present
* Ameloblastic fibro-odontoma with both enamel and dentine present
## Histopathology[edit]
Odontomas are from mixed epithelial and mesenchymal components which are required for tooth development, producing enamel, dentine, cementum and pulp tissue. [6]
## Presentation[edit]
Odontomas usually asymptomatic and present as chance radiographic finding, often during childhood and adolescence when teeth do not erupt within the expected timeframe. [6]
Occasionally odontomas can erupt into the mouth and this can lead to acute infections resembling a dental abscess. [10]
During the early stage of odontoma development; radiolucent flecks develop. At a later stage of development a dense radioopaque mass becomes visible as enamel and dentine forms. [6]
## Aetiology[edit]
Overall aetiology is unknown. However, odontomas have been related to local trauma, inflammatory and/or infectious processes, hereditary anomalies such as Gardener's syndrome and Hermanns syndrome, odontoblastic hyperactivity, mature odontoblasts and dental lamina remnants (Cell Rests of Serres). [12]
### Gardner's syndrome[edit]
Gardner's syndrome is a subtype of Familial adenomatous polyposis. The clinical presentation of this syndrome includes multiple odontomas. This condition has a high risk of malignancy through adenocarcinoma of the bowel. [10]
## Treatment[edit]
Most common treatment is surgical enucleation due to well-encapsulated nature of odontomas allowing separation from surrounding bone. [10][6]
If left untreated can result in a dentigerous cyst. [6][12]
## Epidemiology[edit]
Odontomas are thought to be the second most frequent type of odontogenic tumor worldwide (after ameloblastoma), accounting for about 20% of all cases within this relatively uncommon tumor category which shows large geographic variations in incidence. According to the same article discussion, statistics might appear misleading as most of the odontomas within high-occurrence ameloblastoma-areas, are well-likely left unreported due to hospital management problems and asymptomatic clinical picture of odontoma.[13]
In 2019, a 7-year-old boy from Tiruvallur district,[14] near Chennai, India with compound odontoma received surgery to remove 526 teeth from his lower right jaw.[15][16]
## References[edit]
1. ^ a b AK, El-Naggar; JKC, Chan; JR, Grandis; T, Takata; PJ, Slootweg (2017-01-23). WHO Classification of Head and Neck Tumours. ISBN 9789283224389.
2. ^ Ireland R (25 March 2010). A Dictionary of Dentistry. Oxford University Press. p. 247. ISBN 978-0-19-953301-5.
3. ^ Fletcher CDM (2 April 2013). Diagnostic Histopathology of Tumors: Expert Consult - Online. Elsevier Health Sciences. p. 791. ISBN 978-1-4557-3754-3.
4. ^ Junquera L, de Vicente JC, Roig P, Olay S, Rodríguez-Recio O (2005). "Intraosseous odontoma erupted into the oral cavity: an unusual pathology" (PDF). Medicina Oral, Patologia Oral y Cirugia Bucal. 10 (3): 248–51. PMID 15876969.
5. ^ "Odontoma". Dorland's Illustrated Medical Dictionary. Elsevier Health Sciences. 2011. p. 1313. ISBN 978-1-4160-6257-8.
6. ^ a b c d e f g h i Cawson, R. A. (2017). Cawson's Essentials of Oral Pathology and Oral Medicine. Odell, E. W. (9th ed.). London: Elsevier Health Sciences UK. ISBN 978-0-7020-7391-5. OCLC 1119449255.
7. ^ "Odontogenic tumors". Archived from the original on 2011-07-20. Retrieved 2009-01-04.
8. ^ Bhargavan Sarojini S, Khosla E, Varghese T, Johnson Arakkal L (2014). "Eruption of odontomas into the oral cavity: a report of 2 cases". Case Reports in Dentistry. 2014: 639173. doi:10.1155/2014/639173. PMC 4037568. PMID 24900927.
9. ^ Amado Cuesta S, Gargallo Albiol J, Berini Aytés L, Gay Escoda C (2003). "Review of 61 cases of odontoma. Presentation of an erupted complex odontoma" (PDF). Medicina Oral. 8 (5): 366–73. PMID 14595262.
10. ^ a b c d Coulthard, Paul. (2013). Master Dentistry : Volume 1: Oral and Maxillofacial Surgery, Radiology, Pathology and Oral Medicine. Horner, Keith., Sloan, Philip., Theaker, Elizabeth D. (3rd ed.). London: Elsevier Health Sciences UK. ISBN 978-0-7020-5557-7. OCLC 884647370.
11. ^ Speight PM, Takata T (March 2018). "New tumour entities in the 4th edition of the World Health Organization Classification of Head and Neck tumours: odontogenic and maxillofacial bone tumours". Virchows Archiv. 472 (3): 331–339. doi:10.1007/s00428-017-2182-3. PMC 5886999. PMID 28674741.
12. ^ a b Satish V, Prabhadevi MC, Sharma R (September 2011). "Odontome: A Brief Overview". International Journal of Clinical Pediatric Dentistry. 4 (3): 177–85. doi:10.5005/jp-journals-10005-1106. PMC 5034075. PMID 27678223.
13. ^ Avelar RL, Primo BT, Pinheiro-Nogueira CB, Studart-Soares EC, de Oliveira RB, Romulo de Medeiros J, Hernandez PA (November 2011). "Worldwide incidence of odontogenic tumors". The Journal of Craniofacial Surgery. 22 (6): 2118–23. doi:10.1097/SCS.0b013e3182323cc7. PMID 22067866.
14. ^ Chennai dentists extract 526 teeth from mouth of seven-year-old boy, 31 July 2019, New Indian Express.
15. ^ Dunham J (August 1, 2019). "Boy has surgery to remove 526 teeth 'reminiscent of pearls in an oyster'". CTV News. Retrieved 3 August 2019.
16. ^ Saavetha's Surgical and Pathological Excellence in Unmasking 256 Teeth from a Single Site in a Child, 1 August 2019 News from Saavetha Dental College, Chennai. It features photographs and X-ray pictures.
## External links[edit]
Classification
D
* ICD-O: 9280/0
* MeSH: D009810
* DiseasesDB: 34988
* v
* t
* e
Dental tumors
Cementoblast
* Cementoblastoma
* Cementoma
Ameloblast
* Ameloblastoma
Mixed/hamartoma
* Odontoma
Other
* Adenomatoid odontogenic tumor
* Keratocystic odontogenic tumour
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Odontoma | c0028882 | 29,489 | wikipedia | https://en.wikipedia.org/wiki/Odontoma | 2021-01-18T19:10:23 | {"mesh": ["D009810"], "umls": ["C0028882"], "icd-9": ["213.0"], "icd-10": ["D16"], "wikidata": ["Q2520684"]} |
Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendations for risk reduction. Please click on the link to access this resource.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sudden infant death syndrome | c0038644 | 29,490 | gard | https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome | 2021-01-18T17:57:28 | {"mesh": ["D013398"], "omim": ["272120"], "umls": ["C0038644"], "synonyms": ["SIDS"]} |
Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
## Epidemiology
So far, less than 30 cases have been described in the literature.
## Clinical description
Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries.
## Etiology
The aetiology is unknown but the combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.
## Genetic counseling
The syndrome is transmitted as an autosomal dominant trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Johnson neuroectodermal syndrome | c0796002 | 29,491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2316 | 2021-01-23T18:28:50 | {"gard": ["378"], "mesh": ["C535882"], "omim": ["147770"], "umls": ["C0796002"], "icd-10": ["Q87.8"], "synonyms": ["Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome", "Alopecia-anosmia-deafness-hypogonadism syndrome", "Johnson-McMillin syndrome"]} |
NGLY1 deficiency
Other namesNGLY1-congenital disorder of deglycosylation
N-glycanase 1, the affected protein
SpecialtyMedical genetics
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition.[1] Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement disorder.[2] NGLY1 deficiency is difficult to diagnose, and most individuals have been identified by exome sequencing.
NGLY1 deficiency causes a dysfunction in the endoplasmic reticulum-associated degradation pathway. NGLY1 encodes an enzyme, N-glycanase 1, that cleaves N-glycans. Without N-glycanase, N-glycosylated proteins that are misfolded in the endoplasmic reticulum cannot be degraded, and thus accumulate in the cytoplasm of cells.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 History
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Four common findings have been identified in a majority of patients: developmental delay or intellectual disability of varying degrees, lack of or greatly reduced tears, elevated liver transaminases, and a complex movement disorder. The elevated liver enzymes often resolve in childhood. In addition, approximately 50% of patients described with NGLY1 deficiency have seizures, which can vary in their difficulty to control. Other symptoms that have been reported in affected individuals include sleep apnea, constipation, scoliosis, oral motor defects, auditory neuropathy and peripheral neuropathy.[2]
## Diagnosis[edit]
NGLY1 deficiency can be suspected based on clinical findings, however confirmation of the diagnosis requires the identification of biallelic pathogenic variants in NGLY1. Traditional screening tests utilized for congenital disorders of glycosylation, including carbohydrate deficient transferrin are not diagnostic in NGLY1 deficiency. To date all variants identified as being causative of NGLY1 deficiency have been sequence variants, rather than copy number variants. This spectrum may change as additional cases are identified.[2] A common nonsense variant (c.1201A>T (p.Arg401Ter)) accounts for approximately a third of pathogenic variants identified, and is associated with a more severe clinical course.[2]
## Treatment[edit]
There is no cure for NGLY1 deficiency.[5] Supportive care is indicated for each patient based on their specific symptoms, and can include eye drops to manage the alacrima, pharmaceutical management of seizures, feeding therapy and physical therapy.[2] Most potential treatment options for NGLY1 deficiency are in the pre-clinical stages. These include enzyme replacement therapy, as well as ENGase inhibitors.[2] Efforts are also underway to find small-molecule stabilizers for the mutant NGLY1 protein variants as a potential means to overcome the N-glycanase deficiency.[6]
## Epidemiology[edit]
Eighteen patients with confirmed NGLY1 deficiency have been reported in the medical literature.[2] Patient databases managed through disease specific support groups have reported 46 patients.[2][7] Currently, the majority of individuals reported with NGLY1 deficiency are of northern European descent, however this likely reflects an ascertainment bias in these early stages of the disorder. Affected individuals with African and Hispanic backgrounds have been identified.[2]
## History[edit]
The first cases of NGLY1 deficiency were described in 2012.[1] NGLY1 deficiency has received a large amount of attention, despite its rarity, due to the children of two media-savvy families being afflicted.[8] The Wilseys, descendants of Dede Wilsey, founded the Grace Science Foundation in honor of their daughter, while Matt Might and his wife founded the Bertrand Might Research Fund. These foundations have contributed millions of dollars to research efforts.[8][9]
## See also[edit]
* Glycobiology
## References[edit]
1. ^ a b Online Mendelian Inheritance in Man (OMIM): CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG - 615273
2. ^ a b c d e f g h i Lam C, Wolfe L, Need A, Shashi V, Enns G (February 2018). "NGLY1-Related Congenital Disorder of Deglycosylation". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Lam C, Wolfe L, Need A, Shashi V, Enns G (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 29419975.
3. ^ Freeze HH (March 2013). "Understanding human glycosylation disorders: biochemistry leads the charge". The Journal of Biological Chemistry. 288 (10): 6936–45. doi:10.1074/jbc.R112.429274. PMC 3591604. PMID 23329837.
4. ^ Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, et al. (October 2014). "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway". Genetics in Medicine. 16 (10): 751–8. doi:10.1038/gim.2014.22. PMC 4243708. PMID 24651605.
5. ^ "About NGLY1". NGLY1.org.
6. ^ Srinivasan B, Zhou H, Mitra S, Skolnick J (October 2016). "Novel small molecule binders of human N-glycanase 1, a key player in the endoplasmic reticulum associated degradation pathway". Bioorganic & Medicinal Chemistry. 24 (19): 4750–4758. doi:10.1016/j.bmc.2016.08.019. PMC 5015769. PMID 27567076.
7. ^ "NGLY1 gene". Genetics Home Reference.
8. ^ a b Mnookin S (14 July 2014). "One of a Kind". The New Yorker.
9. ^ "Our work - Grace Science Foundation". Grace Science Foundation.
## External links[edit]
* NGLY1 Foundation \- To eliminate the challenges of N-glycanase Deficiency through research, awareness and support.
Classification
D
* ICD-10: E77.8
* OMIM: 615273
* DiseasesDB: 36670
External resources
* GeneReviews: NGLY1 deficiency
* Orphanet: 404454
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| NGLY1 deficiency | c3808991 | 29,492 | wikipedia | https://en.wikipedia.org/wiki/NGLY1_deficiency | 2021-01-18T18:39:17 | {"gard": ["12315"], "mesh": ["C000626124"], "umls": ["C3808991"], "orphanet": ["404454"], "wikidata": ["Q28024539"]} |
A number sign (#) is used with this entry because of evidence that blepharocheilodontic syndrome-1 (BCDS1) is caused by heterozygous mutation in the CDH1 gene (192090) on chromosome 16q22.
### Genetic Heterogeneity of Blepharocheilodontic Syndrome
BCD syndrome-2 (BCDS2; 617681) is caused by mutation in the CTNND1 gene (601045) on chromosome 11q12.
Description
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).
Clinical Features
An association of ectropion of the lower eyelids, hypertelorism, and cleft lip and palate was described by Elschnig (1912), although it is not clear that Elschnig recognized the clinical constellation as a distinct entity. Allanson and McGillivray (1985) reported a family in which many members of 4 generations had a syndrome of cleft lip and/or palate, ectropion of the lower eyelids with ocular hypertelorism, and conical teeth with variable expression consistent with autosomal dominant inheritance. The ectropion suggested Treacher Collins syndrome (154400). Gorlin et al. (1976) noted that Zellweger had observed mother and son with clefting, ectropion, and limb reduction defects, and that about 4 sporadic cases have been reported. Falace and Hall (1989) presented a 5-generation kindred in which of 12 affected persons, 8 had abnormal teeth, 4 had euryblepharon (eyelids with abnormally wide lid opening), and 2 had clefts.
Peters (1915) described congenital lagophthalmia in 4 generations. Pico (1959) reported a family in which 18 members in 3 generations had lagophthalmia, 11 of whom had congenital ectropion, with associated distichiasis in 8. Korula et al. (1995) reported several individuals with bilateral cleft lip and palate, lagophthalmia (incomplete closure of the eyelids), megaloblepharon (large eyelids), distichiasis (double row of eyelashes), and ectropion of the lower eyelids. Eight cases, 3 from 1 family, were identified in a cleft palate clinic and all presented with bilateral cleft lip and palate and lagophthalmia. Distichiasis was present in 5 of the 8 cases, and 5 cases had ectropion in various degrees. Dental findings consisted of hypodontia in 5 cases and delayed dentition in 1. Hypoplastic nails and clinodactyly were confined to the 3 familial cases (father, son, and daughter).
Gorlin et al. (1996) reported 2 mother-child pairs and 4 sporadic cases of this syndrome, one of which was first reported by Piper (1957). Among the patients reported by Gorlin et al. (1996), ectropion of the lower lids and bilateral cleft lip/palate were among the most common findings; distichiasis of the upper eyelids was a less common observation. Gorlin et al. (1996) proposed the term blepharo-cheilo-dontic (BCD) syndrome for this autosomal dominant condition and suggested that affected persons reported by Korula et al. (1995) actually had the same syndrome. Similar manifestations were found in a girl described by Martinez et al. (1987), although she also had syndactyly.
Guion-Almeida et al. (1998) described 4 Brazilian patients with this disorder. Two were sporadic cases and 2 were familial, i.e., a mother and her equally affected son. The patients also showed lagophthalmos, a condition in which the eye cannot be completely closed.
Valdez-de la Torre et al. (1999) described 2 unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these 2 patients had familial cleft lip/palate in 2 generations, probably as a variable expression of an autosomal dominant gene. The other patient also had euryblepharon.
Gil da Silva Lopes et al. (2003) identified BCDS in 3 successive generations of a Brazilian family and in a sporadic case, also Brazilian. In addition to the cardinal signs, the sporadic case included hypothyroidism and imperforate anus, which had been previously observed in 1 patient. In the family with multiple cases, male-to-male transition was observed.
Because of phenotypic overlap with EEC syndrome, a form of which (EEC3; 604292) is caused by mutation in the P63 gene (603273), as well as overlap with the AEC syndrome (106260), which is caused by mutations in the same gene, Gil da Silva Lopes et al. (2003) suggested that mutation in the P63 gene should be sought in BCD syndrome. Some phenotypic overlap was also seen between BCD syndrome and van der Woude syndrome (119300), suggesting that the interferon regulatory factor-6 gene (IRF6; 607119) should be investigated also in BCDS.
Martinhago and Ramos (2004) reported a Brazilian child with lagophthalmia, ectropion of lower lids, euryblepharon, bilateral cleft lip and palate, and oligodontia with reduced crown formation who was born with agenesis of the thyroid. Martinhago and Ramos (2004) suggested that the phenotype should be broadened to include thyroid disorders.
Winship and Aftimos (2005) described a 3-year-old boy who had dysmorphic features consistent with blepharocheilodontic syndrome but who also had features previously reported by Korula et al. (1995) in cases of lagophthalmia, including hypoplastic nails and a dermoid cyst of the lateral eyebrow. Winship and Aftimos (2005) stated that the significant clinical overlap in their patient further supported the proposal that lagophthalmia and blepharocheilodontic syndrome represent a continuum of a single syndrome.
Weaver et al. (2010) studied a 3-generation family segregating autosomal dominant BCDS in which the proband was a 6-week-old girl who was born with unilateral cleft lip and palate (CLP), imperforate anus, and ectropion of the lower eyelids. Her 4-year-old sister had repaired bilateral CLP as well as ectropion of the lower eyelids, eyelid insufficiency, conical teeth, and webbed digits. An older brother had repaired imperforate anus and ocular features of BCDS, and their mother had CLP, ectropion of the lower eyelids, bilateral syndactyly between fingers 3 and 4 and toes 2 and 3, and a history of imperforate anus. The mother reported additional affected family members, including 2 brothers and 2 children of 1 of the brothers, as well as her father and a paternal uncle and aunt. Noting that this was the fourth report of BCDS associated with imperforate anus, Weaver et al. (2010) concluded that imperforate anus should be considered a feature of the BCDS phenotype.
Ababneh et al. (2014) reported a Saudi boy with the common eyelid, lip, and tooth abnormalities of BCD syndrome who also had imperforate anus, thyroid agenesis, and lumbosacral meningomyelocele. The parents were consanguineous, but a comprehensive review of the family failed to reveal similar cases or even rare features of the syndrome, indicating sporadic occurrence.
Nishi et al. (2016) reported a 2-year-old Japanese girl with cleft lip and palate, right choanal atresia, tetralogy of Fallot, absent corpus callosum, and a mass in the frontal region of the cranial base compressing the right optic nerve and causing blindness in the right eye. Tumor resection revealed the mass to be a meningoencephalocele. The patient had facial dysmorphism, including posteriorly rotated ears with overfolded helices, hypertelorism, and upslanted palpebral fissures, as well as cloudy corneas and lumbar vertebral fusion. Ghoumid et al. (2017) noted that the photographs provided in the article showed eyelid anomalies consistent with ectropion and euryblepharon, making it possible to retrospectively diagnose BCDS.
Ghoumid et al. (2017) studied 11 patients from 8 families with 'typical' BCD syndrome, with variable expression severity. All patients had eyelid anomalies, including ectropion, euryblepharon, lagophthalmia, and distichiasis, and all patients exhibited features of ectodermal dysplasia, including hair anomalies, conical teeth, and tooth agenesis. All showed typical dysmorphism, with hypertelorism, flat face, and high forehead, and some had an asymmetric face. CLP was observed in 9 of the 11 patients. Less common but previously reported features included thyroid gland hypoplasia or agenesis in 3 patients, anal atresia in 2, syndactyly in 2, and neural tube defects in 2.
Inheritance
The blepharocheilodontic syndrome is inherited as an autosomal dominant trait (Allanson and McGillivray, 1985; Weaver et al., 2010).
Molecular Genetics
By whole-exome or candidate gene sequencing in 8 families with BCDS, Ghoumid et al. (2017) identified 5 heterozygous mutations in the CDH1 gene (see, e.g., 192090.0024-192090.0026) and 3 in the CTNND1 gene (601045.0001-601045.0003; see BCDS2 617681). In 2 families, the mutations occurred de novo; in 2, the mutations segregated with disease; in 2, the mutations were inherited from an asymptomatic parent, suggesting incomplete penetrance; and in the remaining 2, parental DNA was unavailable. Ghoumid et al. (2017) stated that although the series was too small to establish genotype-phenotype correlations, they observed that eyelid anomalies were more severe in patients with CDH1 mutations than in those with CTNND1 mutations. In addition, they noted that a previously reported Japanese girl (Nishi et al., 2016) who had cleft lip and palate, choanal atresia, tetralogy of Fallot, and a neural tube defect, and who upon exome sequencing was found to carry a missense mutation in CDH1 (D676E; 192090.0027), also exhibited eyelid anomalies characteristic of BCDS.
### Exclusion Studies
In 3 families with blepharocheilodontic syndrome, Freitas et al. (2007) screened 5 candidate genes, including P63 and IRF6, but found no mutations. In the proband of a 3-generation family segregating autosomal dominant BCDS, Weaver et al. (2010) also found no mutations in the P63 and IRF6 genes.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Flat face \- High forehead \- Asymmetric face (in some patients) \- High anterior hairline (in some patients) Eyes \- Hypertelorism \- Ectropion of lower eyelids \- Lagophthalmia (incomplete closure of eyelids) \- Megaloblepharon \- Distichiasis (double row of eyelashes) Nose \- Choanal atresia (rare) Mouth \- Cleft lip and/or palate Teeth \- Conical teeth \- Hypodontia \- Delayed dentition (rare) ABDOMEN Gastrointestinal \- Imperforate anus (in some patients) SKELETAL Hands \- Clinodactyly \- Syndactyly, cutaneous (in some patients) SKIN, NAILS, & HAIR Nails \- Hypoplastic nails Hair \- Distichiasis \- Sparse hair NEUROLOGIC Central Nervous System \- Neural tube defect (uncommon) ENDOCRINE FEATURES \- Thyroid hypoplasia or agenesis (uncommon) MISCELLANEOUS \- Incomplete penetrance observed in some families MOLECULAR BASIS \- Caused by mutation in the cadherin 1 gene (CDH1, 192090.0024 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| BLEPHAROCHEILODONTIC SYNDROME 1 | c1861536 | 29,493 | omim | https://www.omim.org/entry/119580 | 2019-09-22T16:43:09 | {"doid": ["0080345"], "mesh": ["C536188"], "omim": ["119580"], "orphanet": ["1997"], "synonyms": ["Alternative titles", "BLEPHAROCHEILODONTIC SYNDROME", "BCD SYNDROME", "CLEFTING, ECTROPION, AND CONICAL TEETH", "ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE", "ELSCHNIG SYNDROME", "LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE"]} |
Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 9p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the duplication was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a duplication. Treatment is based on the signs and symptoms present in each person.
This page is meant to provide general information about 9p duplications. You can contact GARD if you have questions about a specific duplication on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Chromosome 9p duplication | c0265428 | 29,494 | gard | https://rarediseases.info.nih.gov/diseases/5364/chromosome-9p-duplication | 2021-01-18T18:01:19 | {"mesh": ["C538026"], "umls": ["C0265428"], "synonyms": ["Duplication 9p", "Trisomy 9p", "9p duplication", "9p trisomy", "Partial trisomy 9p"]} |
Sealpox virus
Virus classification
(unranked): Virus
Realm: Varidnaviria
Kingdom: Bamfordvirae
Phylum: Nucleocytoviricota
Class: Pokkesviricetes
Order: Chitovirales
Family: Poxviridae
Genus: Parapoxvirus
Species: incertae sedis
Virus: Sealpox virus
Sealpox
Sealpox is a cutaneous (skin) condition caused by a Parapoxvirus, usually affecting seal handlers who have been bitten by infected harbor or grey seals.[1]:394 First identified in 1969,[2] it wasn't unequivocally proven to be transmissible to humans until 2005,[3] though such transmission had been reported at least as early as 1987.[4] It causes lesions that closely resemble those caused by orf.[3] As many as 2% of seals in marine mammal rehabilitation facilities in North America may have it.[5]
## See also[edit]
* Farmyard pox
* Tanapox
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Dunn, J. Lawrence; Spotte, Stephen (1974). "Some Clinical Aspects of Seal Pox in Captive Atlantic Harbor Seals". The Journal of Zoo Animal Medicine. 5 (4): 27–30. doi:10.2307/20094269. JSTOR 20094269.
3. ^ a b Clark C, McIntyre PG, Evans A, McInnes CJ, Lewis-Jones S (April 2005). "Human sealpox resulting from a seal bite: confirmation that sealpox virus is zoonotic". Br. J. Dermatol. 152 (4): 791–3. doi:10.1111/j.1365-2133.2005.06451.x. PMID 15840117.
4. ^ Hastings, Barkley E.; Lowenstine, Linda J.; Gage, Laurie J.; Munn, Robert J. (September 1989). "An Epizootic of Seal Pox in Pinnipeds at a Rehabilitation Center". Journal of Zoo and Wildlife Medicine. 20 (3): 282–290. JSTOR 20094962. "Abstract: An epizootic of cutaneous nodules occurred in three species of pinnipeds at the California Marine Mammal Center during the summer of 1986."
5. ^ Roess AA, Levine RS, Barth L, Monroe BP, Carroll DS, Damon IK, Reynolds MG (December 2011). "Sealpox virus in marine mammal rehabilitation facilities, North America, 2007-2009". Emerging Infect. Dis. 17 (12): 2203–8. doi:10.3201/eid1712.101945. PMC 3311194. PMID 22172454.
## External links[edit]
Classification
D
* ICD-10-CM: B08.62
* ICD-9-CM: 059.12
* SNOMED CT: 16677000
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Sealpox | c0276191 | 29,495 | wikipedia | https://en.wikipedia.org/wiki/Sealpox | 2021-01-18T18:52:26 | {"umls": ["C0276191"], "icd-9": ["059.12"], "wikidata": ["Q7440653"]} |
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial isolated clinodactyly of fingers | c0265610 | 29,496 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295014 | 2021-01-23T18:52:02 | {"umls": ["C0265610"], "icd-10": ["Q68.1"]} |
A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
## Epidemiology
Prevalence is unknown; over 80 cases have been described to date.
## Clinical description
Acroosteolysis dominant type (AOD) has a variable, broad and evolving clinical spectrum. AOD manifests clinically from infancy or early childhood onwards with a mild cranio-facial dysmorphism with features becoming gradually coarser over time. Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears, long philtrum, micrognathia with highly arched palate or cleft palate, and short neck. The cardinal signs (habitually in late childhood or adolescence) comprise progressive acroosteolysis of distal phalanges and short and broad digits (with or without associated pain). Associated ossification anomalies are multiple wormian bones, thickened cranial vault, absent frontal sinus, elongated sella turcica, basilar impression/platybasia leading to various neurological symptoms (mostly in adolescents and adults) secondary to stretching of the cranial nerves, and generalized osteoporosis resulting in biconcave vertebrae, vertebral collapse, and scoliosis. Hydrocephalus and syringomyelia may be seen even prior to development of basilar impression/platybasia. Other abnormalities include recurrent respiratory tract infections, abnormal deep voice, hearing loss and joint laxity. Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. Affected individuals may present with congenital heart disease, as well as respiratory, renal and digestive tract malformations, and umbilical hernia in the first months of life.
## Etiology
AOD is caused by truncating mutations in the NOTCH2 gene (1p13-p11). All mutations lie within the last coding exon of NOTCH2 resulting in a gain of function due to the loss of the protein-destabilizing PEST domain. NOTCH2 mutations have been reported in a variant Alagille syndrome (see this term).
## Diagnostic methods
Diagnosis is often delayed due to the relatively late onset of acroosteolysis of distal phalanges. Diagnosis is based on clinical and radiological examinations. DEXA (dual energy radiodensitometry) is beneficial to ascertain presence of osteoporosis. Acroosteolysis shows two different patterns of bone resorption: from the distal end of the terminal phalanx and a transverse band of osteolysis across. Genetic testing confirms the diagnosis.
## Differential diagnosis
Differential diagnoses may include pycnodysostosis and Hutchinson-Gilford progeria syndrome (see these terms) based on clinical and x-ray findings, however, patients lack premature aging seen in progeria and increased bone density and decreased mandible angle observed in pycnodysostosis.
## Antenatal diagnosis
In cases with a family history, prenatal diagnosis is feasible.
## Genetic counseling
AOD is transmitted as an autosomal dominant trait with a high penetrance. In addition, numerous novel sporadic cases are reported.
## Management and treatment
No treatment exists for AOD, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide.
## Prognosis
Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Acroosteolysis dominant type | c0917715 | 29,497 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=955 | 2021-01-23T18:46:00 | {"gard": ["508"], "mesh": ["C531695", "C535663", "D031845"], "omim": ["102400", "102500"], "umls": ["C0917715", "C2930971"], "icd-10": ["M89.5"], "synonyms": ["Acrodentoosteodysplasia", "Acroosteolysis with osteoporosis and changes in skull and mandible", "Arthrodentoosteodysplasia", "Cheney syndrome", "Hajdu-Cheney syndrome"]} |
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Gastrointestinal stromal tumor | c0238198 | 29,498 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=44890 | 2021-01-23T18:59:16 | {"gard": ["8598"], "mesh": ["D046152"], "omim": ["175510", "606764"], "umls": ["C0238198", "C3179349"], "icd-10": ["C26.9"], "synonyms": ["GIST", "Gastrointestinal stromal sarcoma"]} |
Teeth that do not fully grow out of the gums due to being blocked by other teeth
Impacted wisdom teeth
Other namesImpacted third molars
3D CT of an impacted wisdom tooth adjacent the inferior alveolar nerve prior to removal of wisdom tooth
SpecialtyDentistry, oral and maxillofacial surgery
SymptomsLocalized pain and swelling behind the last teeth
ComplicationsInfections, loss of adjacent teeth, cysts
Usual onsetLate teens, early 20s
TypesFull vs partially impacted, direction of impaction
CausesCongenital
Diagnostic methodExamination, x-ray
Differential diagnosisOther causes for dental pain, TMJ pain
TreatmentGood dental care, removal of wisdom teeth
Frequency70-75% of the population
Impacted wisdom teeth is a disorder where the third molars (wisdom teeth) are prevented from erupting into the mouth.[1] This can be caused by a physical barrier, such as other teeth, or when the tooth is angled away from a vertical position.[2] Completely unerupted wisdom teeth usually result in no symptoms, although they can sometimes develop cysts or neoplasms. Partially erupted wisdom teeth can develop cavities or pericoronitis. Removal of impacted wisdom teeth is advised in the case of certain pathologies, such as nonrestorable caries or cysts.[3]
Wisdom teeth likely become impacted because of a mismatch between the size of the teeth and the size of the jaw. Impacted wisdom teeth are classified by their direction of impaction, their depth compared to the biting surface of adjacent teeth and the amount of the tooth's crown that extends through gum tissue or bone. Impacted wisdom teeth can also be classified by the presence or absence of symptoms and disease. Screening for the presence of wisdom teeth often begins in late adolescence when a partially developed tooth may become impacted. Screening commonly includes clinical examination as well as x-rays such as panoramic radiographs.
Infection resulting from impacted wisdom teeth can be initially treated with antibiotics, local debridement or surgical removal of the gum overlying the tooth. Over time, most of these treatments tend to fail and patients develop recurrent symptoms. The most common treatment to recurrent pericoronitis is wisdom tooth removal. The risks of wisdom tooth removal are roughly proportional to the difficulty of the extraction. Sometimes, when there is a high risk to the inferior alveolar nerve, only the crown of the tooth will be removed (intentionally leaving the roots) in a procedure called a coronectomy. The long-term risk of coronectomy is that chronic infection can persist from the tooth remnants. The prognosis for the second molar is good following the wisdom teeth removal with the likelihood of bone loss after surgery increased when the extractions are completed in people who are 25 years of age or older. A treatment controversy exists about the need for and timing of the removal of disease-free impacted wisdom teeth. Supporters of early removal cite the increasing risks for extraction over time and the costs of monitoring the wisdom teeth. Supporters for retaining wisdom teeth cite the risk and cost of unnecessary surgery.
The condition affects up to 72% of the Swedish population.[4] Wisdom teeth have been described in the ancient texts of Plato and Hippocrates, the works of Darwin and in the earliest manuals of operative dentistry. It was the meeting of sterile technique, radiology and anaesthesia in the late 19th and early 20th centuries that allowed the more routine management of impacted wisdom teeth.
Play media
Video summary
## Contents
* 1 Classification
* 2 Signs and symptoms
* 3 Causes
* 4 Pathophysiology
* 5 Diagnosis
* 6 Screening
* 7 Treatment
* 7.1 Local treatment
* 7.2 Wisdom teeth removal
* 7.2.1 Recovery, risks and complications
* 7.2.2 Treatment controversy
* 7.3 Coronectomy
* 8 Prognosis
* 9 Epidemiology
* 10 History
* 11 References
* 12 External links
## Classification[edit]
All teeth are classified as either developing, erupted (into the mouth), embedded (failure to erupt despite lack of blockage from another tooth) or impacted. Impacted teeth are ones that fails to erupt due to blockage from other teeth. Wisdom teeth, as the last teeth to erupt in the mouth are the most likely to become impacted. They develop between the ages of 14 and 25, with 50% of root formation completed by age 16, and 95% of all teeth erupted by the age of 25, however, some tooth movement can continue beyond the age of 25.[5]:140
Impacted wisdom teeth are classified by the direction and depth of impaction, the amount of available space for tooth eruption, and the amount of soft tissue or bone (or both) that covers them. The classification structure helps clinicians estimate the risks for impaction, infections and complications associated with wisdom teeth removal.[6] Wisdom teeth are also classified by the presence (or absence) of symptoms and disease.[7]
One review found that 11% of wisdom teeth will have evidence of disease and are symptomatic, 0.6% will be symptomatic but have no disease, 51% will be asymptomatic but have disease present and 37% will be asymptomatic and have no disease.[7] Impacted wisdom teeth are often described by the direction of their impaction (forward tilting, or mesioangular being the most common), the depth of impaction and the age of the patient as well as other factors such as pre-existing infection or the presence of pathology (cysts, tumors or other disease).[5]:143–144 Each of these factors is used to predict the difficulty (and rate of complications) when removing an impacted tooth, with age being the most reliable predictor[8] rather than the orientation of the impaction.[9]
Impacted wisdom tooth with a backward tilt (distoangular impaction) and chronic infection to back of crown (green arrow)
Impacted wisdom tooth with no tilt (vertical impaction)
Impacted wisdom tooth that is tilted forward (mesioangular impaction)
Impacted wisdom tooth with a horizontal orientation (horizontal impaction)
Another classification system often taught in U.S. dental schools is known as Pell and Gregory Classification. This system includes a horizontal and vertical component to classify the location of third molars (predominately applicable to lower third molars): the third molar's relationship to the level of the teeth already in the mouth, being the vertical or x-component and to the anterior border of the ramus being the horizontal or y-component. [10]
## Signs and symptoms[edit]
Pericoronitis (green arrow) in lower right wisdom tooth
Impacted wisdom teeth without a communication to the mouth, that have no pathology associated with the tooth, and have not caused tooth resorption on the blocking tooth, rarely have symptoms.[11] The chances of developing pathology on an impacted wisdom tooth that is not communicating with the mouth is approximately 12%.[11] However, when impacted wisdom teeth communicate with the mouth, food and bacteria penetrate to the space around the tooth and cause symptoms such as localized pain, swelling and bleeding of the tissue overlying the tooth. The tissue overlying the tooth is called the operculum, and the disorder is called pericoronitis which means inflammation around the crown of the tooth.[5]:141 Low grade chronic periodontitis commonly occurs on either the wisdom tooth or the second molar, causing less obvious symptoms such as bad breath and bleeding from the gums. The teeth can also remain asymptomatic (pain free), even with disease.[7]
The term asymptomatic means that the person has no symptoms. The term asymptomatic should not be equated with absence of disease. Most diseases have no symptoms early in the disease process. A pain-free or asymptomatic tooth can still be infected for many years before pain symptoms develop.[7]
## Causes[edit]
Wisdom teeth become impacted when there is not enough room in the jaws to allow for all of the teeth to erupt into the mouth. Because the wisdom teeth are the last to erupt, due to insufficient room in the jaws to accommodate more teeth, the wisdom teeth become stuck in the jaws, i.e., impacted. There is a genetic predisposition to tooth impaction. Genetics plays an important, albeit unpredictable role in dictating jaw and tooth size and tooth eruption potential of the teeth. Some also believe that there is an evolutionary decrease in jaw size due to softer modern diets that are more refined and less coarse than our ancestors'.[6]
## Pathophysiology[edit]
Impacted wisdom tooth with caries and cyst (green arrow) displacing inferior alveolar nerve (blue)
Impactions completely covered by bone and soft tissue, do not communicate with the mouth, and have a low rate of clinically significant infection. Since the tooth never erupts, however, the dental follicle that surrounds the tooth does not degenerate during eruption, and can develop cysts or uncommon tumors over time.[5]:141 Estimates of the incidence of cysts or other neoplasms (almost all benign) around impacted teeth average at 3%, usually seen in people under the age of 40. This suggests that the chance of tumor formation decreases with age.[5]:141
Bacteroides fragilis bacteria under microscope
For partially impacted teeth in those over 20 year of age, the most common pathology seen, and the most common reason for wisdom teeth removal, is pericoronitis or infection of the gum tissue over the impacted tooth. The bacteria associated with infections include Peptostreptococcus, Fusobacterium, and Bacteroides bacteria. The next most common pathology seen is cavities or tooth decay. Fifteen percent of people with retained wisdom teeth exposed to the mouth have cavities on the wisdom tooth or adjacent second molar due to a wisdom tooth. The rate of cavities on the back of the second molar has been reported anywhere from 1% to 19% with the wide variation attributed to increased age.[12]
In five percent of cases, advanced periodontitis or gum inflammation between the second and third molars precipitates the removal of wisdom teeth.[5]:141[6] Among patients with retained, asymptomatic wisdom teeth, roughly 25% have gum infections (periodontal disease).[13]:ch13 Teeth with periodontal pockets of greater than 5mm have tooth loss rates that start at 10 teeth lost per 1000 teeth per year at 5mm to a rate of 70 teeth lost per year per 1000 teeth at 11mm.[14]:57 The risk of periodontal disease and caries on third molars increases with age with a small minority (less than 2%) of adults age 65 years or older maintaining the teeth without caries or periodontal disease and 13% maintaining unimpacted wisdom teeth without caries or periodontal disease.[15] Periodontal probing depths increase over time to greater than 4 mm in a significant proportion of young adults with retained impacted wisdom teeth which is associated with increases in serum inflammatory markers such as interleukin-6, soluble intracellular adhesion molecule-1 and C-reactive protein.[16]
Crowding of the front teeth is not believed to be caused by the eruption of wisdom teeth although this is a reason many dental clinicians use to justify wisdom teeth extraction.[5]:141,[17]
## Diagnosis[edit]
Panoramic radiograph of impacted lower wisdom teeth (green arrows) in a 26-year-old with dental caries (red arrows) on the adjacent teeth
The diagnosis of impaction can be made clinically if enough of the wisdom tooth is visible to determine its angulation, depth, and if the patient is old enough that further eruption or uprighting is unlikely. Wisdom teeth continue to move to the age of 25 years old due to eruption, and then continue some later movement owing to periodontal disease.[18]
If the tooth cannot be assessed with clinical exam alone, the diagnosis is made using either a panoramic radiograph or cone-beam CT. Where unerupted wisdom teeth still have eruption potential several predictors are used to determine the chance of the teeth becoming impacted. The ratio of space between the tooth crown length and the amount of space available, the angle of the teeth compared to the other teeth are the two most commonly used predictors, with the space ratio being the most accurate. Despite the capacity for movement into early adulthood, the likelihood that the tooth will become impacted can be predicted when the ratio of space available to the length of the crown of the tooth is under 1.[5]:141
## Screening[edit]
Impacted 2nd molar (red arrow) with developing wisdom tooth (green arrow)
There is no standard to screen for wisdom teeth. It has been suggested, absent evidence to support routinely retaining or removing wisdom teeth, that evaluation with panoramic radiograph, starting between the ages of 16 and 25 be completed every 3 years. Once there is the possibility of the teeth developing disease, then a discussion about the operative risks versus long-term risk of retention with an oral and maxillofacial surgeon or other clinician trained to evaluate wisdom teeth is recommended. These recommendations are based on expert opinion level evidence.[19] Screening at a younger age may be required if the second molars (the "12-year molars") fail to erupt as ectopic positioning of the wisdom teeth can prevent their eruption. Radiographs can be avoided if the majority of the tooth is visible in the mouth.
## Treatment[edit]
Wisdom teeth that are fully erupted and in normal function need no special attention and should be treated just like any other tooth. It is more challenging, however to make treatment decisions with asymptomatic, disease-free wisdom teeth where there is a high probability that the teeth will develop disease over time, but none exists on examination, or on x-rays (see Treatment controversy below).[4]
### Local treatment[edit]
An operculum (green arrow) over a partially erupted lower left third molar with inflammation and pus (right of green arrow under tissue)
Main article: Pericoronitis
Pericoronitis is an infection of the operculum of a partially impacted wisdom tooth. It can be treated with local cleaning, an antiseptic rinse of the area and antibiotics if severe. Definitive treatment can be excision of the operculum, however, recurrence of these infections is high. Pericoronitis, while a small area of tissue, should be viewed with caution, because it lies near the anatomic planes of the neck and can progress to life-threatening neck infections.[14]:440–441
### Wisdom teeth removal[edit]
Radiograph of symptomatic and infected impacted lower left wisdom tooth
The above tooth after extraction
Wisdom teeth removal (extraction) is the most common treatment for impacted wisdom teeth. In the US, 10 million wisdom teeth are removed annually.[20] The procedure can be either simple or surgical, depending on the depth of the impaction and angle of the tooth. Surgical removal is to create an incision in the mucosa of the mouth, remove bone of the mandible or maxilla adjacent the tooth, extract it or possibly section the tooth and extract it in pieces. This can be completed under local anaesthetic, sedation or general anaesthetic.[5]
Radiograph of symptomatic and infected impacted wisdom tooth near inferior alveolar nerve
Nerve (green arrow) pierces the root of impacted wisdom tooth. Tooth sectioned from around nerve
Socket of wisdom tooth with skeletonized inferior alveolar nerve (green arrow) intact
#### Recovery, risks and complications[edit]
Most people will experience pain and swelling (worst on the first post-operative day) then return to work after 2 to 3 days with the rate of discomfort decreased to about 25% by post-operative day 7 unless affected by dry socket: a disorder of wound healing that prolongs post-operative pain. It can be 4 to 6 weeks before patients are fully recovered with a full range of jaw movements.[21]
A Cochrane investigation found that the use of antibiotics either just before or just after surgery reduced the risk of infection, pain and dry socket after wisdom teeth are removed by oral surgeons, but that using antibiotics also causes more side effects for these patients. Twelve patients needed to receive antibiotics to prevent one infection and for every 21 people who received antibiotics, an adverse event was likely. The conclusion of the review was that antibiotics given to healthy people to prevent infections may cause more harm than benefit to both the individual patients and the population as a whole.[22]
Another Cochrane Investigation has found post-operative pain is effectively managed with either ibuprofen, or ibuprofen in combination with acetaminophen.[23]
Many variations to the surgical technique exist however; as of 2014 the evidence was insufficient to recommend one type of surgical practice over another.[24]
Long-term complications can include periodontal complications such as bone loss on the second molar following wisdom teeth removal. Bone loss as a complication after wisdom teeth removal is uncommon in the young but present in 43% of those of 25 years of age or older.[21] Injury to the inferior alveolar nerve resulting in numbness or partial numbness of the lower lip and chin has reported rates that vary widely from 0.04% to 5%.[21] The largest study is from a survey of 535 oral and maxillofacial surgeons in California, where a rate of 1:2,500 was reported.[25]
The large variation in report rates is attributed to variations in technique, the patient pool and surgeon experience. Other complications that are uncommon have been reported including persistent sinus communication, damage to adjacent teeth, lingual nerve injury, displaced teeth, osteomyelitis and jaw fracture.[21] Alveolar osteitis, post-operative infection, excessive bleeding may also be expected.[17]
#### Treatment controversy[edit]
Many impacted wisdom teeth are extracted prior to the age of 25, when full eruption can be reasonably expected and before symptoms or disease have begun. This has led to a treatment controversy generally referred to as the extraction of asymptomatic, disease-free wisdom teeth.
In 2000, the National Institute of Clinical Excellence (NICE) of the United Kingdom set guidelines to discontinue the removal of asymptomatic disease-free third molars in the UK National Health Service, stating that there was no reliable research evidence to support a health benefit to patients from the prophylactic removal of pathology-free impacted third molar teeth, in addition to the risks of removal and cost to the service.[26] Advocates of the policy point out that the impacted wisdom teeth can be monitored and avoidance of surgery also means avoidance of the recovery, risks, complications and costs associated with it. Following implementation of the NICE guidelines the UK saw a decrease in the number of impacted third molar operations between 2000 and 2006 and a rise in the average age at extraction from 25 to 31 years.[12] The American Public Health Association (APHA) has adopted a similar policy.[27]
Those who argue against a blanket moratorium on the extraction of asymptomatic, disease-free wisdom teeth point out that wisdom teeth commonly develop periodontal disease or cavities which may eventually damage the second molars and that there are costs associated with monitoring wisdom teeth. They also point to the fact that there is an increase in the rate of post-operative periodontal disease on the second molar,[7] difficulty of surgery and post-operative recovery time with age.[8] The UK has also seen an increase in the rate of dental caries on the lower second molars increasing from 4–5% prior to the NICE guideline to 19% after its adoption.[12]
Although most studies arrive at the conclusion of negative long-term outcomes e.g. increased pocketing and attachment loss after surgery, it is clear that early removal (before 25 years old), good post-operative hygiene and plaque control, and lack of pre-existing periodontal pathology before surgery are the most crucial factors that minimise the probability of adverse post-surgical outcomes.[28]
Asymptomatic disease-free impacted wisdom teeth in 21-year-old
The Cochrane review of surgical removal versus retention of asymptomatic disease-free impacted wisdom teeth suggests that the presence of asymptomatic impacted wisdom teeth may be associated with increased risk of periodontal disease affecting adjacent 2nd molar (measured by distal probing depth > 4 mm on that tooth) in the long term. Few studies, however, met the criteria to be included in the Cochrane review and those that were included provided very low quality evidence and had a high risk of bias. Another study which was at high risk of bias, found no evidence to suggest that removal of asymptomatic disease-free impacted wisdom teeth has an effect on crowding in the dental arch. There is also insufficient evidence to highlight a difference in risk of decay with or without impacted wisdom teeth.[17]
One trial in adolescents who had orthodontic treatment comparing the removal of impacted lower wisdom teeth with retention was identified. It only examined the effect on late lower incisor crowding and was rated 'highly biased' by the authors. The authors concluded that there is not enough evidence to support either the routine removal or retention of asymptomatic impacted wisdom teeth.[29][needs update] Another randomised controlled trial done in the UK has suggested that it is not reasonable to remove asymptomatic disease-free impacted wisdom tooth merely to prevent incisor crowding as there is not strong enough evidence to show this association.[30]
Due to the lack of sufficient evidence to determine whether such teeth should be removed or not, the patient's preference and values should be taken into account with clinical expertise exercised and careful consideration of risks and benefits to determine treatment.[28] If it is decided to retain asymptomatic disease-free impacted wisdom teeth, clinical assessment at regular intervals is advisable to prevent undesirable outcomes (pericoronitis, root resorption, cyst formation, tumour formation, inflammation/infection).[17]
### Coronectomy[edit]
Coronectomy of impacted wisdom tooth post-op xray showing root remnants (red arrow) and inferior alveolar nerve (green arrow)
Coronectomy is a procedure where the crown of the impacted wisdom tooth is removed, but the roots are intentionally left in place. It is indicated when there is no disease of the dental pulp or infection around the crown of the tooth, and there is a high risk of inferior alveolar nerve injury.[31]
Coronectomy, while lessening the immediate risk to the inferior alveolar nerve function has its own complication rates and can result in repeated surgeries. Between 2.3% and 38.3% of roots loosen during the procedure and need to be removed and up to 4.9% of cases require reoperation due to persistent pain, root exposure or persistent infection. The roots have also been reported to migrate in 13.2% to 85.9% of cases.[31]
## Prognosis[edit]
The prognosis for impacted wisdom teeth depends on the depth of the impaction. When they lack a communication to the mouth, the main risk is the chance of a cyst or neoplasm forming in the tissues around the tooth (such as the dental follicle), which is relatively uncommon.[4]
Once communicating with the mouth, the onset of disease or symptoms cannot be predicted but the chance of it does increase with age. Less than 2% of wisdom teeth are free of either periodontal disease or caries by age 65.[15] Further, several studies have found that between 30% – 60% of people with previously asymptomatic impacted wisdom teeth will have them extracted due to symptoms or disease, 4–12 years after initial examination.[4]
Extraction of the wisdom teeth removes the disease on the wisdom tooth itself and also appears to improve the periodontal status of the second molar, although this benefit diminishes beyond the age of 25.[15]
## Epidemiology[edit]
Few studies have looked at the percentage of the time wisdom teeth are present or the rate of wisdom teeth eruption. The lack of up to five teeth (excluding third molars, i.e. wisdom teeth) is termed hypodontia. Missing third molars occur in 9-30% of studied populations. One large scale study on a group of young adults in New Zealand showed 95.6% had at least 1 wisdom tooth with an eruption rate of 15% in the maxilla and 20% in the mandible.[32] Another study on 5000 army recruits found 10,767 impacted wisdom teeth.[33]:246 The frequency of impacted lower third molars was found to be 72% in a Swedish study,[4] and the frequency of retained impacted wisdom teeth that are free of disease and symptoms is estimated to be between 11.6% to 29%, a percentage which drops with age.[32]
The incidence of wisdom tooth removal was estimated to be 4 per 1000 person years in England and Wales prior to the 2000 NICE guidelines.[4]
## History[edit]
Farmer at the dentist, Johann Liss, c. 1616–17.
Wisdom teeth have been described in the ancient texts of Plato and Hippocrates. "Teeth of wisdom" being from the Latin, dentes sapientiæ, which in turn is derived from the Hippocratic term, sophronisteres, from the Greek sophron, meaning prudent.[34]
Charles Darwin believed the wisdom teeth to be in decline with evolution which his contemporary, Paolo Mantegazza, later proved to be false when he discovered Darwin was not opening the jawbones of specimens to find the impacted tooth stuck in the jaw.[35]
In the late 19th and early 20th centuries, the collision of sterile technique, anaesthesia and radiology made routine surgery on the wisdom teeth possible. John Tomes's 1873 text A System of Dental Surgery describes techniques for removal of "third molars, or dentes sapientiæ" including descriptions of inferior alveolar nerve injury, jaw fracture and pupil dilation after opium is placed in the socket.[36] Other texts from about this time speculate on their de-evolution, that they are prone to decay and discussion on whether or not they lead to crowding of the other teeth.[37]
## References[edit]
1. ^ "Wisdom Teeth And Orthodontic Treatment: Should I be worried?". Orthodontics Australia. 2020-01-25. Retrieved 2020-11-19.
2. ^ "ICD-10 Diagnosis Code K01.1 Impacted teeth". icdlist.com. Retrieved 2019-03-30.
3. ^ "Guidance on the Extraction of Wisdom Teeth". NICE. Retrieved 29 June 2019.
4. ^ a b c d e f Dodson TB, Susarta SM (Apr 2010). "Impacted wisdom teeth (systematic review)". Clin Evid (Online). 2010 (1302). PMC 2907590. PMID 21729337.
5. ^ a b c d e f g h i Peterson, Larry J.; Miloro, Michael (2004). Peterson's Principles of Oral and Maxillofacial Surgery (2nd ed.). PMPH-USA. ISBN 978-1-55009-234-9.
6. ^ a b c Juodzbalys G, Daugela P (Apr–Jun 2013). "Mandibular Third Molar Impaction: Review of Literature and a Proposal of a Classification (review)". J Oral Maxillofac Res. 4 (2): e1. doi:10.5037/jomr.2013.4201. PMC 3886113. PMID 24422029.
7. ^ a b c d e Dodson TB (Sep 2012). "The management of the asymptomatic, disease-free wisdom tooth: removal versus retention. (review)". Atlas Oral Maxillofac Surg Clin North Am. 20 (2): 169–76. doi:10.1016/j.cxom.2012.06.005. PMID 23021394.
8. ^ a b Pogrel MA (2012). "What Is the Effect of Timing of Removal on the Incidence and Severity of Complications (review)". J Oral Maxillofac Surg. 70 (Suppl 1): 37–40. doi:10.1016/j.joms.2012.04.028. PMID 22705212.
9. ^ Bali A, Bali D, Sharma A, Verma G (Sep 2013). "Is Pederson Index a True Predictive Difficulty Index for Impacted Mandibular Third Molar Surgery? A Meta-analysis". J Oral Maxillofac Surg. 12 (3): 359–364. doi:10.1007/s12663-012-0435-x. PMC 3777040. PMID 24431870.
10. ^ Hupp, James R., et. al. Contemporary Maxillofacial Surgery, 6E, Elsevier-Mosby, 2014. ISBN 978-0-323-09177-0
11. ^ a b Friedman, JW (September 2007). "The prophylactic extraction of third molars: a public health hazard". American Journal of Public Health. 97 (9): 1554–9. doi:10.2105/ajph.2006.100271. PMC 1963310. PMID 17666691.
12. ^ a b c Renton T, Al-Haboubi M, Pau A, Shepherd J, Gallagher JE (2012). "What Has Been the United Kingdom's Experience with Retention of Third Molars?". J Oral Maxillofac Surg. 70 (Suppl 1): 48–57. doi:10.1016/j.joms.2012.04.040. PMID 22762969.
13. ^ Bell RB, Khan HA (2012). Current Therapy in Oral and Maxillofacial Surgery. Elsevier Saunders. ISBN 978-1-4160-2527-6.
14. ^ a b Newman MG, Takei HH, Klokkevold PR, Carranza FA (2012). Carranza's Clinical Periodontology. Elsevier Saunders. ISBN 978-1-4377-0416-7.
15. ^ a b c Marciani RD (2012). "Is there pathology associated with asymptomatic third molars (review)". J Oral Maxillofac Surg. 70 (Suppl 1): 15–19. doi:10.1016/j.joms.2012.04.025. PMID 22717377.
16. ^ Offenbacher S, Beck JD, Moss KL, et al. (2012). "What Are the Local and Systemic Implications of Third Molar Retention". J Oral Maxillofac Surg. 70 (Suppl 1): 58–65. doi:10.1016/j.joms.2012.04.036. PMID 22916700.
17. ^ a b c d Ghaeminia, Hossein; Nienhuijs, Marloes El; Toedtling, Verena; Perry, John; Tummers, Marcia; Hoppenreijs, Theo Jm; Van der Sanden, Wil Jm; Mettes, Theodorus G. (4 May 2020). "Surgical removal versus retention for the management of asymptomatic disease-free impacted wisdom teeth". The Cochrane Database of Systematic Reviews. 5: CD003879. doi:10.1002/14651858.CD003879.pub5. ISSN 1469-493X. PMC 7199383. PMID 32368796.
18. ^ Phillips C, White RP (2012). "How Predictable Is the Position of Third (review)". J Oral Maxillofac Surg. 70 (Suppl 1): 11–14. doi:10.1016/j.joms.2012.04.024. PMID 22705213.
19. ^ Dodson TB (2012). "Surveillance as a Management Strategy for Retained Third Molars: Is it Desirable?". J Oral Maxillofac Surg. 70 (Suppl 1): 20–24. doi:10.1016/j.joms.2012.04.026. PMID 22916696.
20. ^ Moisse, Katie (15 December 2011). "Parents Sue After Teen Dies During Wisdom Tooth Surgery". ABC News. Retrieved 27 January 2016.
21. ^ a b c d Pogrel MA (2012). "What are the Risks of Operative Intervention (review)". J Oral Maxillofac Surg. 70 (Suppl 1): 33–36. doi:10.1016/j.joms.2012.04.029. PMID 22705215.
22. ^ Lodi G, Figini L, et al. (Nov 2012). "Antibiotics to prevent complications following tooth extractions". Cochrane Database Syst Rev. 11: CD003811. doi:10.1002/14651858.CD003811.pub2. PMID 23152221.
23. ^ Bailey E, Worthington HV, et al. (Dec 2013). "Ibuprofen and/or paracetamol (acetaminophen) for pain relief after surgical removal of lower wisdom teeth". Cochrane Database Syst Rev. 12 (12): 12:CD004624. doi:10.1002/14651858.CD004624.pub2. PMID 24338830.
24. ^ Coulthard, Paul; Bailey, Edmund; Esposito, Marco; Furness, Susan; Renton, Tara F.; Worthington, Helen V. (2014-07-29). "Surgical techniques for the removal of mandibular wisdom teeth". The Cochrane Database of Systematic Reviews (7): CD004345. doi:10.1002/14651858.CD004345.pub2. ISSN 1469-493X. PMID 25069437.
25. ^ Robert, Richard C.; Bacchetti, Peter; Pogrel, M. Anthony (June 2005). "Frequency of Trigeminal Nerve Injuries Following Third Molar Removal". Journal of Oral and Maxillofacial Surgery. 63 (6): 732–735. doi:10.1016/j.joms.2005.02.006. PMID 15944965.
26. ^ TA1 Wisdom teeth – removal: guidance. London, United Kingdom: National Institute for Clinical Excellence (UK). 2000.
27. ^ "Opposition to Prophylactic Removal of Third Molars (Wisdom Teeth)". Policy Statement Database. American Public Health Association. 2008-10-28. Retrieved 2016-03-09.
28. ^ a b Dodson, Thomas B. Current Therapy in Oral and Maxillofacial Surgery. pp. 122–126.
29. ^ Mettes TD (Jun 2012). "Surgical removal versus retention for the management of asymptomatic impacted wisdom teeth. (Cochrane Invest)" (PDF). Cochrane Database Syst Rev. 13 (6): CD003879. doi:10.1002/14651858.CD003879.pub3. hdl:2066/109646. PMID 22696337.
30. ^ Song, F.; O'Meara, S.; Wilson, P.; Golder, S.; Kleijnen, J. (2000-01-01). "The effectiveness and cost-effectiveness of prophylactic removal of wisdom teeth". Health Technology Assessment (Winchester, England). 4 (15): 1–55. doi:10.3310/hta4150. ISSN 1366-5278. PMID 10932022.
31. ^ a b Ghaeminia H (2013). "Coronectomy may be a way of managing impacted third molars (systematic review)". Evid Based Dent. 14 (2): 57–8. doi:10.1038/sj.ebd.6400939. PMID 23792405.
32. ^ a b Dodson TB (2012). "How Many Patients Have Third Molars and How Many Have One or More Asymptomatic, Disease-Free Third Molars?". J Oral Maxillofac Surg. 70 (Suppl 1): 4–7. doi:10.1016/j.joms.2012.04.038. PMID 22916698.
33. ^ Fonseca RJ (2000). Oral and Maxillofacial Surgery Volume 1. Philadelphia, PA: Saunders. ISBN 978-0-7216-9632-4.
34. ^ Mitchell E, Barclay J (1819). A Series of Engravings: Representing the Bones of the Human Skeleton; with the Skeletons of Some of the Lower Animals. High Street, London, UK: Oliver & Boyd. "wisdom teeth."
35. ^ Mantegazza, P (June 1878). "Concerning the Atrophy and Absence of Wisdom Teeth". In Stevenson, RK (ed.). Anthropology Society of Paris Meeting of June 20, 1878. Paris, France: Anthropology Society of Paris. Retrieved 4 February 2014.
36. ^ Tomes, J.; Tomes, C. S. (1873). A System of Dental Surgery. London, UK: J&A Churchill.
37. ^ Gant, F (1878). Science and Practice of Surgery ; Including Special Chapters by Different Authors, Volume 2. Philadelphia, USA: Lindsay & Blakiston. p. 308.
## External links[edit]
Classification
D
* ICD-10: K01.1
* ICD-9-CM: 520.6
* OMIM: 189490
* DiseasesDB: 32003
External resources
* MedlinePlus: 001057
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
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* Candidiasis
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* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
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* Molluscum contagiosum
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* Benign: Squamous cell papilloma
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* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
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* Submucous fibrosis
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Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
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* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
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* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
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* Microdontia
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* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
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* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Impacted wisdom teeth | None | 29,499 | wikipedia | https://en.wikipedia.org/wiki/Impacted_wisdom_teeth | 2021-01-18T18:43:37 | {"wikidata": ["Q17165269"]} |
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