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Graham-Little-Piccardi-Lassueur syndrome (GLPLS) is a rare type of scarring hair loss. It is most commonly found in otherwise healthy women between the ages of 30 and 70 years. GLPLS is characterized by three features: progressive patchy scarring hair loss of the scalp (cicatricial alopecia), non-scarring thinning of the hair in the armpits and groin (noncicatricial alopecia), and spiky rough bumps based around hair follicles (follicular lichen planus). Sometimes individuals with GLPLS experience itching around affected areas, which can be severe. The cause of this condition is not known; however, over the years, researchers have suggested theories that it may develop in relation to genetic factors, viral exposures, hormonal changes, immune system issues, stress, and vitamin deficiencies. Treatment focuses on slowing the progression of hair loss and may include corticosteroids, retinoids (medications related to vitamin A), psoralen plus ultraviolet light A (PUVA), antimalarial medications, and antibiotics.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Graham-Little-Piccardi-Lassueur syndrome
|
c0023645
| 27,700 |
gard
|
https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome
| 2021-01-18T18:00:13 |
{"mesh": ["C535892"], "umls": ["C0023645"], "orphanet": ["505"], "synonyms": ["Graham Little-Piccardi-Lassueur syndrome", "Graham Little syndrome", "Piccardi-Lassueur-Little syndrome"]}
|
A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24.
Description
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009).
Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).
Clinical Features
Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family. They had no cardiovascular, musculoskeletal, or metabolic disease, and there was no family history of Marfan syndrome, Weill-Marchesani syndrome, or metabolic disease. Their parents and 4 other sibs were unaffected.
Kumar et al. (2010) studied 2 consanguineous Indian families in which there were 3 brothers and a sister and brother, respectively, with microspherophakia. The 3 brothers all had unilateral lens dislocation into the vitreous cavity. The 23-year-old female presented with blurred vision and was found to have bilateral microspherophakia and secondary glaucoma, as did her 15-year-old brother. None of the 5 affected individuals had enlarged cornea, buphthalmos, abnormal angle structures, or increased axial length, excluding a diagnosis of primary congenital glaucoma in both families. None of the patients from either family had any systemic involvement.
Desir et al. (2010) described 3 sibs, born of first-cousin Moroccan parents, who had bilateral microspherophakia and megalocornea. The proband presented at 18 months of age with impaired vision and was found to have microspherophakia with bilateral lens dislocation, megalocornea, flat irides, and iridodonesis. Eye pressures were normal, and he had axial myopia. He underwent bilateral lensectomy at 2 years of age; 4 to 5 years later he had bilateral retinal detachment, and ocular hypertension developed. A sister was examined at 10 months of age due to megalocornea; she also had microspherophakia, iridodonesis, and axial myopia, with very deep anterior chambers, miotic oval pupils without well-defined borders, and normal eye pressures. She had complete posterior lens dislocation at 6 years of age, and ocular hypertension was noted at 8 years of age. Another sister presented at 18 months of age with axial myopia, megalocornea, microspherophakia without lens dislocation, iridodonesis, iris anomalies including anterior synechiae and iris mamillations, deep anterior chambers, and normal eye pressures. At 5 years of age, she had intermittent anterior dislocation of the left lens, causing acute glaucoma crises, and she underwent emergent extraction of the lens; left retinal detachment developed a few weeks later. Progressive posterior luxation of the right lens and bilateral ocular hypertension were observed. Reexamination of the proband at 14 years of age revealed an increased arm span of 204 cm with a height of 184 cm, and a decreased upper-to-lower body ratio. His hands were normal with no arachnodactyly, and the Walker and Steinberg signs were not present; Marfan syndrome (154700) was considered, but direct analysis of the FBN1 gene (134797) revealed no mutation. His affected sisters had normal upper-to-lower body ratios. Desir et al. (2010) also reported a second family of Macedonian Gypsy descent with 1 affected girl and 1 healthy boy. The girl presented at 2 years of age with megalocornea, and examination showed patchy iris atrophy and a very flat anterior chamber, with anterosuperior dislocation of microspherophakic lenses. Fundi and eye pressures were normal at that time, and her eye pressures were still normal at 3 years of age. All affected children from both families had unremarkable skin, teeth, and gums, and their hearts, valves, and aortic roots were normal by ultrasonography.
Khan et al. (2011) reported 8 affected individuals from 3 consanguineous families with congenital megalocornea and secondary glaucoma due to spherophakia and/or ectopia lentis. The authors noted that 1 patient from each family had spontaneous complete crystalline lens dislocation into the anterior chamber with acute glaucoma during early childhood, an unusual ophthalmic presentation that had previously been most strongly associated with homocystinuria (see 236200); however, homocystinuria screening in these patients was negative. In addition, 2 of the older patients had tall stature and a high-arched palate, but none of the other affected individuals had dysmorphic features, dysmorphic body habitus, or nonocular congenital anomalies.
Inheritance
Small round lens as an isolated abnormality appears to be a recessive. Fleischer (1916), Gil (1928), and Franceschetti (1930) reported affected sibs, and Fleischer (1916) and Franceschetti (1930) reported parental consanguinity.
Ben Yahia et al. (2009) stated that, from 1901 to 2009, 30 sporadic cases of microspherophakia had been reported.
Mapping
In a consanguineous Indian family in which 3 brothers had microspherophakia, Kumar et al. (2010) performed a whole-genome scan and identified a 31.52-cM (22.76-Mb) region of homozygosity between D14S588 and D14S1050 on chromosome 14q24-q32.12. A maximum multipoint lod score of 2.91 was obtained between markers D14S1020 and D14S606. The region contained 110 reference genes. Haplotype analysis in another consanguineous Indian family with microspherophakia did not identify a region of homozygosity, suggesting genetic heterogeneity.
In a consanguineous Moroccan family in which 3 sibs had megalocornea, microspherophakia, ectopia lentis, and secondary glaucoma, Desir et al. (2010) performed homozygosity mapping and identified a region of homozygosity on chromosome 14q23.3-q24.3 that segregated with disease. A maximum multipoint lod score of 2.87 was calculated at D14S1002.
In 4 affected individuals from 2 consanguineous families with megalocornea, lens dislocation, and secondary glaucoma, Khan et al. (2011) detected a common run of homozygosity in a region of 14q containing the LTPB2 gene (602091).
### Exclusion Studies
By linkage analysis in the consanguineous Tunisian family segregating isolated microspherophakia, Ben Yahia et al. (2009) found that the 2 affected sibs were heterozygous for all tested markers overlapping the ADAMTS10 gene (608990), and although the sibs shared the same haplotype around the FBN1 gene (134797), no homozygosity by descent was observed, making linkage to FBN1 unlikely under the hypothesis of autosomal recessive inheritance. Ben Yahia et al. (2009) concluded that WMS, which can be caused by mutation in the FBN1 or the ADAMTS10 gene, and isolated microspherophakia are not allelic disorders.
Molecular Genetics
In 3 affected brothers from a consanguineous Indian family segregating microspherophakia mapping to chromosome 14q24-q32.12, Kumar et al. (2010) identified homozygosity for a frameshift mutation in the LTBP2 gene (602091.0005).
INHERITANCE \- Autosomal recessive GROWTH Other \- Increased arm-span-to-height ratio (rare) \- Decreased upper-to-lower body ratio (rare) HEAD & NECK Eyes \- Microspherophakia \- Lens dislocation \- Megalocornea \- Myopia, axial \- Hypermetropia (in some patients) \- Glaucoma, secondary \- Deep anterior chamber (in some patients) \- Flat anterior chamber (in some patients) \- Iridodonesis (in some patients) \- Retinal detachment, postsurgical (in some patients) Mouth \- High-arched palate (in some patients) \- Normal gums Teeth \- Normal teeth CHEST Ribs Sternum Clavicles & Scapulae \- Pectus excavatum, mild (rare) SKIN, NAILS, & HAIR Skin \- Normal skin MISCELLANEOUS \- Patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root MOLECULAR BASIS \- Caused by mutation in the latent transforming growth factor beta binding protein 2 gene (LTBP2, 602091.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
|
c3538951
| 27,701 |
omim
|
https://www.omim.org/entry/251750
| 2019-09-22T16:25:08 |
{"omim": ["251750"], "orphanet": ["238763"], "synonyms": ["Megalocornea-spherophakia-secondary glaucoma syndrome"]}
|
A number sign (#) is used with this entry because of evidence that X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is caused by mutation in the oligophrenin-1 gene (OPHN1; 300127) on chromosome Xq12.
Clinical Features
Billuart et al. (1998) reported a large family in which 4 males had X-linked mental retardation. Des Portes et al. (2004) performed clinical and 3-dimensional brain MRI evaluations on the affected males of the family studied by Billuart et al. (1998) and an unrelated female patient with an X;12 balanced translocation described by Bienvenu et al. (1997) (see 300127). Clinical features shared by affected individuals were neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation. Brain MRIs in 2 brothers and the unrelated female patient revealed a complex cerebellar dysgenesis including incomplete sulcation of the anterior and posterior vermis with the most prominent defect in lobules VI and VII. Nonspecific cerebral corticosubcortical atrophy was also observed.
Philip et al. (2003) reported 2 families in which 4 males and 1 male, respectively, had X-linked mental retardation associated with subtle facial dysmorphism and cerebellar anomalies, including hypoplasia of the vermis, expansion of the cisterna magna, and retrocerebellar cysts.
Bergmann et al. (2003) reported a family of German descent in which 5 brothers had moderate to severe mental retardation associated with enlargement of the lateral ventricles and cerebellar hypoplasia. Other features included seizures, ataxia, strabismus, and hypogenitalism with cryptorchidism, hypoplastic scrotum, and microphallus. Genetic analysis revealed a deletion in the OPHN1 gene (300127.0004).
Chabrol et al. (2005) reported a family with X-linked mental retardation associated with a mutation in the OPHN1 gene (300127.0005). The 2 affected males had mild facial dysmorphism with long face, prominent forehead, deep-set eyes, marked infraorbital creases, strabismus, short or upturned philtrum, and large ears. Neuroradiographic findings included hypoplasia of the cerebellar vermis, cystic dilatation of the cisterna magna, ventricular dilatation, and global reduction of cerebral volume, particularly in the frontal lobes. Two obligate female carriers showed subtle facial changes. In a review of the 2 families reported by Philip et al. (2003), Chabrol et al. (2005) noted that affected males had similar facial features.
Al-Owain et al. (2011) reported a Saudi family in which 4 boys and 1 girl had a syndromic form of X-linked mental retardation. The 19-year-old proband showed generalized hypotonia and delayed psychomotor development in infancy. He had moderate mental retardation (IQ of 40) and autistic features with minimal social interaction, poor eye contact, and poor speech. At age 8 years, he developed partial complex seizures that were well-controlled. Physical examination showed dysmorphic facial features with long semi-triangular face, deep-set eyes, strabismus, broad high nasal root, peaked prominent nose, and prominent chin. Cerebellar signs included mild ataxia and intention tremor on finger-nose pointing. Brain MRI showed a cerebellar hypoplasia and ventriculomegaly. The 3 other brothers were similarly affected, although 2 did not have ataxia and the severity of the seizure disorder was variable. The 10-year-old girl had mild cognitive delay, moderate speech impairment, attention-deficit hyperactivity disorder, seizures, and similar dysmorphic features as her affected brothers. Brain MRI showed mild cerebellar hypoplasia. X-inactivation studies showed normal random X inactivation in the girl.
Mapping
In a large family segregating X-linked mental retardation, Billuart et al. (1998) found linkage of the disorder to Xp11.4-q12 with a maximum lod score of 3.01 at a marker from the androgen receptor gene (AR; 313700) and with flanking markers OTC (300461) and DXS981.
Molecular Genetics
In a family with X-linked mental retardation, Billuart et al. (1998) identified a 1-bp deletion in the OPHN1 gene (300127.0001). All 4 affected males had the mutation and 7 unaffected females carried the mutation.
Philip et al. (2003) identified 2 different mutations in the OPHN1 gene (300127.0002 and 300127.0003) in affected members of 2 unrelated families with syndromic X-linked mental retardation.
Zanni et al. (2005) identified 4 different novel mutations in the OPHN1 gene in 2 (12%) of 17 unrelated males with mental retardation and known cerebellar anomalies and in 2 (1%) of 196 unrelated males with X-linked mental retardation without previous brain imaging studies. Retrospective imaging studies, when possible, detected cerebellar hypoplasia in the latter patients, indicating that OPHN1 mutations are associated with a syndromic form of X-linked mental retardation with cerebellar hypoplasia.
In affected members of a Saudi family with syndromic X-linked mental retardation, Al-Owain et al. (2011) identified an intragenic 68-kb deletion spanning exons 7 to 15 in the OPHN1 gene (300127.0006).
Animal Model
The pathophysiologic hypothesis of mental retardation caused by the deficiency of OPHN1 relies on the well-known functions of Rho GTPases on neuronal morphology (i.e., dendritic spine structure). Khelfaoui et al. (2007) generated Ophn1-null mice and observed behavior defects in spatial memory together with impairment in social behavior, lateralization, and hyperactivity. In cultured mouse cells, inactivation of Ophn1 function increased the density and proportion of immature dendritic spines. Conditional loss of Ophn1 function in the mouse model confirmed the immaturity defect and showed that Ophn1 is required at all stages of development. Khelfaoui et al. (2007) conclude that depending on the context, OPHN1 controls the maturation of dendritic spines either by maintaining the density of mature spines or by limiting the extension of new filopodia.
INHERITANCE \- X-linked recessive HEAD & NECK Head \- Macrocephaly Face \- Prominent forehead \- Prominent supraorbital ridges \- Long face \- Short philtrum \- Upturned philtrum \- Marked infraorbital creases \- Prominent chin Ears \- Large ears Eyes \- Hypotelorism \- Deep-set eyes \- Strabismus \- Nystagmus Nose \- Long, tubular nose Mouth \- Thin upper lip GENITOURINARY External Genitalia (Male) \- Hypoplastic scrotum \- Microphallus Internal Genitalia (Male) \- Cryptorchidism NEUROLOGIC Central Nervous System \- Psychomotor delay \- Mental retardation, moderate to severe (IQ 40 to 60) \- Mental retardation, mild, in most carrier females \- Hypotonia \- Speech delay \- Seizures \- Ataxic gait \- Spasticity \- Cerebellar signs \- Cerebellar hypoplasia \- Disorganization of the anterior cerebellar vermis \- Enlarged ventricles \- Enlarged cisterna magna \- Retrocerebellar cyst \- Decreased cerebral volume, especially of the frontal lobes Behavioral Psychiatric Manifestations \- Hyperactivity \- Autistic features MISCELLANEOUS \- Onset in infancy \- Most carrier females have mild mental retardation and subtle facial changes MOLECULAR BASIS \- Caused by mutation in the oligophrenin 1 gene (OPHN1, 300127.0001 ) ▲ 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
|
c1845366
| 27,702 |
omim
|
https://www.omim.org/entry/300486
| 2019-09-22T16:20:15 |
{"doid": ["0080311"], "mesh": ["C537456"], "omim": ["300486"], "orphanet": ["137831"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 60, FORMERLY"]}
|
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 7 (MKS7) is caused by homozygous mutation in the NPHP3 gene (608002) on chromosome 3q22.
Description
This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature.
Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS.
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Clinical Features
Goldston et al. (1963) reported 3 neonate sibs with cystic renal dysplasia, 2 of whom also had Dandy-Walker malformation. Liver and pancreatic abnormalities were not reported (Hunter et al., 1991).
Kudo et al. (1985) reported 2 unrelated premature infants with Dandy-Walker malformation, congenital hepatic fibrosis, and generalized cystic dysplastic kidneys. The authors noted that similar renal lesions had been reported in Meckel syndrome and Goldston syndrome, but suggested a distinction from Meckel syndrome due to the presence of Dandy-Walker malformation and the absence of polydactyly and occipital meningoencephalocele. However, the cases did resemble Goldston syndrome.
Gloeb et al. (1989) reported a 17-week-old fetus with marked dilatation of the fourth ventricle and cystic renal dysplasia. Postmortem examination showed evidence of the oligohydramnios syndrome and microscopic lesions in the liver. Gloeb et al. (1989) considered this to be a case of Goldston syndrome, which they defined as cystic renal dysplasia and Dandy-Walker malformation.
Tsuru et al. (1980) reported an autopsied case with renal dysplasia, tapetoretinal degeneration, and Dandy-Walker malformation.
Hunter et al. (1991) described a male neonate with Potter facies, and pulmonary hypoplasia born of a pregnancy complicated by oligohydramnios. He died 15 minutes after birth due to respiratory insufficiency. Postmortem examination showed malrotation of the gut, Dandy-Walker malformation, markedly enlarged cystic kidneys, and congenital hepatic fibrosis with dysgenetic bile ducts. The pancreas was grossly normal, but microscopic examination showed ductal dysgenesis. A sib in a subsequent pregnancy was found to have Dandy-Walker malformation and multicystic kidneys, and the pregnancy was terminated. The authors concluded that their patients most closely resembled the sibs reported by Goldston et al. (1963), although liver and pancreatic abnormalities were not described in those patients. Hunter et al. (1991) also suggested phenotypic overlap with the patients reported by Kudo et al. (1985), Gloeb et al. (1989), and Tsuru et al. (1980). Hunter et al. (1991) noted phenotypic overlap with Meckel syndrome, but concluded that these patients had a distinct autosomal recessive disorder. Hunter et al. (1991) also commented that pancreatic dysplasia may not always be present, that it may not be studied or reported, and that pancreatic changes may be subtle.
Walpole et al. (1991) described a family in which 3 nonviable brothers had a variant of Dandy-Walker malformation associated with enlarged cystic dysplastic kidneys and hepatic fibrosis with biliary duct proliferation. Absence of the spleen was noted in 1 fetus. The presence of these abnormalities in all 3 sibs in the absence of polydactyly and encephalocele suggested that this was distinct from Meckel syndrome. Walpole et al. (1991) noted the phenotypic similarities to the sibs reported by Goldston et al. (1963).
Gulcan et al. (2001) reported a case of Goldston syndrome in a prematurely born male neonate. They defined the disorder as a combination of renal lesions, Dandy-Walker malformation, and congenital hepatic fibrosis. According to the authors, this was the second reported patient in whom the disorder had been diagnosed prenatally.
Moerman et al. (1993) described 2 sib fetuses with a combination of CNS malformations, renal dysplasia, and hepatic ductal malformation. The first fetus had absent cerebellar vermis, congenital hepatic fibrosis with ductal plate malformation, large cystic kidneys, and Dandy-Walker cyst. There was no encephalocele and no polydactyly. Based on the occurrence of a cerebellar Dandy-Walker malformation, the diagnosis of Goldston syndrome was proposed. The other sib showed typical Meckel syndrome with occipital encephalocele, hepatic ductal plate malformation, and cystic renal dysplasia. Both fetuses had cranium bifidum with 2 defects in the squamous part of the occipital bone. Neither fetus had pancreatic abnormalities. Moerman et al. (1993) concluded that Goldston syndrome is not a distinct entity, but rather is a variant of Meckel syndrome, of which the Dandy-Walker malformation can be a component.
Karmous-Benailly et al. (2005) concluded that the association of Dandy-Walker malformation, cystic kidneys, and hepatic fibrosis without bile duct proliferation, sometimes described as the 'Meckel-like' syndrome, belongs to the clinical spectrum of Bardet-Biedl syndrome (BBS; 209900).
Bergmann et al. (2008) reported 2 Turkish sibs, 1 of whom died at age 23 weeks' gestation and the other in the perinatal period, with enlarged multicystic dysplastic kidneys, oligohydramnios, and hepatic ductal plate malformation. One had Dandy-Walker malformation; it was not determined whether the other had a central nervous system defect. The pancreas was normal in 1 and defects were not determined in the other. Bergmann et al. (2008) concluded that the phenotype was consistent with a Meckel-like syndrome, here designated MKS7.
Bergmann et al. (2008) also reported 2 African sibs with enlarged multicystic dysplastic kidneys and liver abnormalities: 1 had liver cysts and the other had ductal plate malformation. One died in the perinatal period and was found to have a hypoplastic calvarium, large fontanel, and cystic pancreas. The other, who died at age 49 days, was neurologically abnormal, with hypertonia, a cyst on the floor of the right ventricle, and bilateral choroid plexus cysts.
Molecular Genetics
In 2 Turkish sibs with a phenotype consistent with Meckel syndrome, Bergmann et al. (2008) identified a homozygous truncating mutation in the NPHP3 gene (608002.0004). They also identified homozygosity for a truncating mutation in the NPHP3 gene (608002.0005) in 2 African sibs with a renal-hepatic-pancreatic dysplasia and brain anomalies, representing phenotypic overlap between MKS7 and RHPD (208540).
Nomenclature
There has been controversy about whether the classic description by Goldston et al. (1963) of renal dysplasia with Dandy-Walker malformation represents a distinct entity or is a form of Meckel syndrome because occipital encephalocele and polydactyly, which are often present in Meckel syndrome, have not been described in Goldston syndrome (Walpole et al., 1991). Moerman et al. (1993) concluded that Goldston syndrome is a variant of Meckel syndrome, of which the Dandy-Walker malformation can be a component.
INHERITANCE \- Autosomal recessive ABDOMEN Liver \- Bile duct proliferation \- Ductal plate malformations GENITOURINARY Kidneys \- Cystic dysplasia NEUROLOGIC Central Nervous System \- Dandy-Walker malformation (in 1 patient) MISCELLANEOUS \- Lethal in utero or perinatal lethal \- Two families each with two affected children have been reported (last curated April 2015) MOLECULAR BASIS \- Caused by mutation in the nephrocystin 3 gene (NPHP3, 608002.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
MECKEL SYNDROME, TYPE 7
|
c2673885
| 27,703 |
omim
|
https://www.omim.org/entry/267010
| 2019-09-22T16:22:47 |
{"doid": ["0070121"], "mesh": ["C537756"], "omim": ["267010"], "orphanet": ["3032"], "synonyms": ["Alternative titles", "RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST", "GOLDSTON SYNDROME"]}
|
Rare metabolic genetic disorder resulting in leukoencephalopathy
Ribose-5-phosphate isomerase deficiency
Other namesRPI deficiency[1]
Ribose-5-phosphate isomerasedeficiency is a human disorder caused by mutations in the pentose phosphate pathway enzyme ribose-5-phosphate isomerase. With only three diagnosed patients over a 27-year period, RPI deficiency is currently the rarest disease in the world.[2]
## Contents
* 1 Mechanism
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
* 6 External links
## Mechanism[edit]
In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen allelic combination.[2] One allele is a non-functional null allele, while the other encodes for a partially active enzyme. Furthermore, the partially functional allele has expression deficits that depend on the cell type in which it is expressed. Therefore, some of the patient's cells have a considerable amount of Rpi activity, whereas others do not.[citation needed]
The molecular cause of the pathology is not fully understood. One hypothesis is that ribose-5-phosphate may lack for RNA synthesis; another possibility is that the accumulation of D-ribitol and D-arabitol may be toxic.[3]
## Diagnosis[edit]
Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, leukoencephalopathy and global developmental delay.[4]
## Treatment[edit]
There is no current treatment as well as prognosis for ribose-5-phosphate isomerase deficiency.
## History[edit]
In 1999 van der Knaap and colleagues[5][3] described a 14-year-old boy with developmental delay, insidious psychomotor regression, epilepsy, leukoencephalopathy and abnormal polyol metabolism. Later, Naik and colleagues[6] reported a second case, an 18-year-old man with seizures, psychomotor regression and diffuse white matter abnormality. A third case was reported in 2018 by Sklower Brooks and colleagues, a child with neonatal onset leukoencephalopathy and psychomotor delays.[7]
## References[edit]
1. ^ "OMIM Entry - # 608611 - RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY". omim.org. Retrieved 16 March 2019.
2. ^ a b Wamelink, M. M.; Grüning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". J. Mol. Med. 88 (9): 931–39. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
3. ^ a b Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS (April 2004). "Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy". American Journal of Human Genetics. 74 (4): 745–51. doi:10.1086/383204. PMC 1181951. PMID 14988808.
4. ^ "Ribose 5-Phosphate Isomerase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2018-03-05.
5. ^ van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C (December 1999). "Leukoencephalopathy associated with a disturbance in the metabolism of polyols". Annals of Neurology. 46 (6): 925–8. doi:10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. PMID 10589548.
6. ^ Naik N, Shah A, Wamelink MC, van der Knaap MS, Hingwala D (September 2017). "Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy". Neurology. 89 (11): 1195–1196. doi:10.1212/WNL.0000000000004361. PMID 28801340.
7. ^ Brooks SS, Anderson S, Bhise V, Botti C (October 2018). "Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case". Journal of Child Neurology. 33 (12): 784–787. doi:10.1177/0883073818789316. PMID 30088433.
## External links[edit]
Classification
D
* OMIM: 608611
* MeSH: C563212
External resources
* Orphanet: 440706
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Ribose-5-phosphate isomerase deficiency
|
c1291609
| 27,704 |
wikipedia
|
https://en.wikipedia.org/wiki/Ribose-5-phosphate_isomerase_deficiency
| 2021-01-18T19:09:16 |
{"mesh": ["C563212"], "umls": ["C1291609"], "orphanet": ["440706"], "wikidata": ["Q6583504"]}
|
A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Anaplastic ependymoma
|
c0280788
| 27,705 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251646
| 2021-01-23T17:39:10 |
{"gard": ["10634"], "mesh": ["D004806"], "umls": ["C0280788"], "icd-10": ["C71.9"]}
|
## Clinical Features
Schinz et al. (1951) described dominant inheritance of slowly progressive osteolysis of the phalanges in the hands and feet associated with recurrent ulcers of the fingers and soles, elimination of bone sequestra, and healing with loss of toes or fingers, with onset between 8 and 22 years. Lamy and Maroteaux (1961) described a dominant form in mother and son. Members of 2 earlier generations were also affected. No abnormality of sensation was present. Maroteaux (1970) found no basilar impression or other changes in the skull or long bones to suggest that this was Cheney syndrome (102500). Reed (1974) reported other families.
A phenocopy is produced in men working in the polymerization of vinyl chloride (Harris and Adams, 1967; Ross, 1970).
Limbs \- Osteolysis of phalanges \- Recurrent ulcers, fingers and soles \- Bone sequestra \- Loss of toes or fingers Misc \- Onset 8 to 22 years \- Phenocopy in vinyl chloride workers Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
ACROOSTEOLYSIS
|
c0917715
| 27,706 |
omim
|
https://www.omim.org/entry/102400
| 2019-09-22T16:45:24 |
{"mesh": ["D031845"], "omim": ["102400"], "orphanet": ["955"]}
|
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
9p13 microdeletion syndrome
|
c4707097
| 27,707 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324313
| 2021-01-23T19:06:29 |
{"icd-10": ["Q93.5"], "synonyms": ["Del(9)(p13)", "Monosomy 9p13"]}
|
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that the missing piece occurs near the center of the chromosome. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder.
Most people with proximal 18q deletion syndrome have delayed development of skills such as sitting, crawling, walking, and speaking, and intellectual disability that can range from mild to severe. In particular, vocabulary and the production of speech (expressive language skills) may be delayed. Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder. Affected individuals also frequently have behavioral problems such as hyperactivity, aggression, and features of autism spectrum disorder that affect communication and social interaction.
## Frequency
Deletions from the q arm of chromosome 18 occur in an estimated 1 in 55,000 newborns worldwide. However, only a small number of these individuals have deletions in the region associated with proximal 18q deletion syndrome. At least 15 people with proximal 18q deletion syndrome have been described in the medical literature.
## Causes
Proximal 18q deletion syndrome is caused by a deletion of genetic material from one copy of chromosome 18. The deletion occurs near the middle of the q arm of the chromosome, typically in an area between regions called 18q11.2 and 18q21.2. The size of the deletion varies among affected individuals. The signs and symptoms of proximal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of chromosome 18. Researchers are working to determine how the loss of specific genes in this region contributes to the various features of this disorder.
### Learn more about the chromosome associated with Proximal 18q deletion syndrome
* chromosome 18
## Inheritance Pattern
Proximal 18q deletion syndrome is considered to be an autosomal dominant condition. This means that a deletion in one of the two copies of chromosome 18 in each cell is sufficient to cause the disorder's characteristic features.
Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Proximal 18q deletion syndrome
|
c0432443
| 27,708 |
medlineplus
|
https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/
| 2021-01-27T08:25:40 |
{"gard": ["10866"], "mesh": ["C536580"], "omim": ["601808"], "synonyms": []}
|
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
## Epidemiology
The annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls.
## Clinical description
Nephroblastoma mainly affects young children, between the ages 1 and 5 years, but 15% of nephroblastomas occur before the age of 1 year and 2% after the age of 8 years. Adult forms are very rare. An abdominal mass (unilateral in most cases) is frequently present. Patients sometimes experience abdominal pain (around 10% of cases), hypertension, fever (20% of cases), hematuria and anemia. The evolution of the disease is very rapid, with regional dissemination in the retroperitoneal space, lymph nodes, vessels (renal vein and inferior vena cava) and in the peritoneal cavity in cases of tumor effraction, and a strong likelihood of metastases in the lungs and liver.
## Etiology
Nephroblastoma is sporadic in 99% of cases and, among these cases, 10% are associated with congenital anomalies (aniridia, hemihypertrophy, genitourinary defects) or form part of specific syndromes (Beckwith-Wiedemann, Denys-Drash, WAGR or Perlman syndromes; see these terms). Genetic anomalies found in different chromosomal regions, including 11p13 (containing the WT1 gene), 11p15.5 (containing the H19 gene), 16q, 1p, 1q and 17p, have been found within the tumors. Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion.
## Diagnostic methods
Diagnosis is based on imagery, particularly CT or MRI scans. The concentration of urinary metabolites of catecholamines is normal. Analysis of the extent of the disease is also conducted using imagery (ultrasound and abdominal CT analyzing particularly the liver and contralateral kidney, and thoracic radiography and CT).
## Differential diagnosis
Differential diagnoses include other renal tumors in children such as mesoblastic nephroma (especially in infants), clear cell sarcoma, neuroblastoma (extremely rare in the kidney but may invade the kidney by contiguity), rhabdoid tumors (see these terms) and metanephric stromal tumors.
## Management and treatment
Disease management is multidisciplinary and may involve chemotherapy and surgery with or without radiotherapy. Chemotherapy enables preoperative reduction in tumor size and eradicates metastases. Surgery should be accomplished without tumor effraction, which usually means that total nephrectomy is required. Nephroblastoma can be confirmed on microscopic examination, which also allows the stage of the tumor in the kidney to be evaluated. This in turn determines the choice of post-operative chemotherapy. Radiotherapy is reserved for the most extensive cases or cases with the least favorable histology.
## Prognosis
In the majority of cases, the prognosis is favorable with a survival rate of over 90%. Adult forms have the same prognosis and should be treated following the same methods, even when adult patients tolerate chemotherapy less well than children (which may lead to a reduction in treatment and as a result a worse prognosis).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Nephroblastoma
|
c0027708
| 27,709 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=654
| 2021-01-23T18:18:25 |
{"gard": ["7892"], "mesh": ["D009396"], "omim": ["194070", "194071", "194090", "601363", "601583", "616806"], "umls": ["C0027708"], "icd-10": ["C64"], "synonyms": ["Renal embryonic tumor", "Wilms tumor"]}
|
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.
People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma.
Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time.
Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.
## Frequency
Neurohypophyseal diabetes insipidus is thought to be rare, although its exact incidence is unknown. The acquired form occurs much more frequently than the familial form.
## Causes
The familial form of neurohypophyseal diabetes insipidus is caused by mutations in the AVP gene. This gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance.
The kidneys filter the blood to remove waste and excess fluid, which are stored in the bladder as urine. ADH controls the balance between fluid intake and urine excretion. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), the brain releases more ADH into the bloodstream. High levels of this hormone direct the kidneys to reabsorb more water and to make less urine. When fluid intake is adequate, the brain releases less ADH. Lower levels of this hormone cause the kidneys to reabsorb less water and to make more urine.
Mutations in the AVP gene result in progressive damage to the brain cells where ADH is produced. These cells ultimately die, causing a shortage of ADH. Without this hormone, the kidneys do not reabsorb water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of neurohypophyseal diabetes insipidus.
The acquired form of neurohypophyseal diabetes insipidus results when the areas of the brain that produce or store ADH are damaged by head injuries, brain tumors, brain surgery, certain diseases and infections, or bleeding in the brain. A loss of ADH disrupts the body's water balance, leading to excessive urine production and the other features of the disorder.
In 30 to 50 percent of all cases of neurohypophyseal diabetes insipidus, the cause of the disorder is unknown. Studies suggest that some of these cases may have an autoimmune basis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. For unknown reasons, in some people with neurohypophyseal diabetes insipidus the immune system appears to damage the brain cells that normally produce ADH.
### Learn more about the gene associated with Neurohypophyseal diabetes insipidus
* AVP
## Inheritance Pattern
Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder.
In a few affected families, the condition has had an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Neurohypophyseal diabetes insipidus
|
c0687720
| 27,710 |
medlineplus
|
https://medlineplus.gov/genetics/condition/neurohypophyseal-diabetes-insipidus/
| 2021-01-27T08:25:02 |
{"mesh": ["D020790"], "omim": ["125700"], "synonyms": []}
|
Abortion in Georgia, like the rest of the United States, is legal. This right came into force with the US Supreme Court's 1973' Roe v. Wade ruling. In 2007, mandatory ultrasound requirements were passed by state legislators. Georgia has continually sought to legislate against abortion at a state level since 2011. The most recent example, the 2019 so-called "heartbeat bill" sought to make abortion illegal as soon as a fetal heartbeat can be detected. In most cases that is around the six-week mark of a pregnancy. Most women are not aware they are pregnant at this time. An injunction was issued against this bill by a federal judge who ruled that it contravened the Supreme Court's 1973 ruling.
Opinion polls indicate that a slim majority of adults in Georgia favour limiting access to abortion (49% illegal in most cases vs 48% legal in most cases with others stating "don't know").[1]
The number of abortion clinics has been on the decline for many years, going from 82 in 1982 to 55 in 1992 and further falling to 17 in 2014. Due to tight restrictions in neighbouring states, as well as cost issues, thousands of women come from out of state to have abortions in Georgia. There were 30,013 legal abortions in 2014, and 31,009 in 2015. 14.5% of all abortions carried out in 2015 were for out of state residents.[2]
There is an active abortion rights movement in the state. This received a surge in donations following the passing of the state's controversial 2019 bill. Women from the state participated in marches supporting abortion rights as part of a #StoptheBans movement in May 2019.
## Contents
* 1 Terminology
* 2 History
* 2.1 Judicial history
* 3 Statistics
* 4 Footnotes
* 5 References
## Terminology[edit]
Main article: Abortion
See also: Definitions of abortion
The abortion debate most commonly relates to the "induced abortion" of an embryo or fetus at some point in a pregnancy, which is also how the term is used in a legal sense.[note 1] Some also use the term "elective abortion", which is used in relation to a claim to an unrestricted right of a woman to an abortion, whether or not she chooses to have one. The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons.[3]
Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child",[4][5] and see the medical terms "embryo", "zygote", and "fetus" as dehumanizing.[6][7] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing: they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. "Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life".[8] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion".[9]
## History[edit]
Thousands of women came from out of state in 2015 to get abortions in North Carolina and Georgia. 14.5% of all abortions in Georgia that year were for out-of-state residents, while 7.5% of all abortions performed in North Carolina were performed for out-of-state residents. This contrasted to neighboring South Carolina, where only 5.9% of abortions performed in the state involved out-of-state residents.
Fetal heartbeat bills by state, including time limit without exceptions marked:
Heartbeat bill passed (to go into effect)
Law partially passed by state legislature
Law blocked by court order
In the late 1960s and early 1970s, Arkansas, Colorado, Georgia, Maryland, New Mexico, North Carolina and Oregon made reforms to their abortion laws, with most of these states providing more detailed medical guidance on when therapeutic abortions could be performed.[10] In 1962, the American Law Institute published their model penal code as it applied to abortions with three circumstances where they believed a physician could justifiably perform an abortion, "If ... there is substantial risk that the continuance of the pregnancy would gravely impair the physical or mental health of the mother or that the child would be born with grave physical or mental defect, or that the pregnancy resulted from rape, incest, or other felonious intercourse." In 1968, Georgia implemented a version of this could but created an exception where they did not allow abortion in the case of incest.[11]
Dates of when heartbeat laws come into effect (as of May 25, 2019)
The state passed a law in the 2000s banning abortions at 22 weeks because they alleged that fetus can feel pain.[12] The state was one of 23 states in 2007 to have a detailed abortion-specific informed consent requirement.[13] Georgia, Michigan, Arkansas and Idaho all required that women must be provided the option by an abortion clinic to view an image of their fetus if an ultrasound is used prior to the abortion taking place.[14] Informed consent materials about fetal pain at 20-weeks in Arkansas, Georgia and Oklahoma says, "the unborn child has the physical structures necessary to experience pain." The Journal of the American Medical Association has concluded that pain sensors do not develop in the fetus until between weeks 23 and 30.[14] Georgia and Wisconsin were two of the only 22 states with written informed consent materials referring women to "crisis pregnancy centers" which acknowledged these centers did not support or provide women with abortion related services.[14]
In 2011, the state was one of six where the legislature introduced a bill that would have banned abortion in almost all cases. It did not pass.[15] This was repeated in 2012, where the state was one of three to unsuccessfully try to ban abortion.[15]
The law as of March 2019 required women wait 24 hours after their initial appointment for an abortion before they could have a second appointment for the actual procedure. This could be waived in case of medical emergency, allowing a woman to receive mandatory counselling over the phone or via a website.[16] State law at the time prohibited health insurance companies on public exchanges from offering abortion services unless the life of the woman was at risk.[16]
Georgia had a six-week abortion ban slated to go into effect in 2019, which will make it illegal to obtain an abortion in the state once the fetus's heartbeat can be detected. The law makes no exception for cases of rape or incest and mandates a penalty in prison for doctors who perform the procedure, noted specifically that this is not referring to the women who get this procedure done.[17]
Rep. Ed Setzler introduced HB 481 in the Georgia House of Representatives on February 25, 2019.[18] During his campaign for Governor, Brian Kemp, now the Governor of Georgia, "vow[ed] to sign the toughest abortion laws in the country" and when asked about litigation said, "bring it! I'll fight for life at the Capitol and in the courtroom."[19] After being passed in the House on March 7, 2019, HB 481 was passed out of a Senate committee on March 18, 2019.[20][21] It was subsequently passed by the entire state Senate, after which it was narrowly passed by the House 92–78.[22] The bill was signed by Governor Kemp on May 7, 2019, bringing into effect one of the strictest abortion laws in the country at the time.[23] The bill would prohibit abortions after a heartbeat can be detected in a conceptus, which is usually when a woman is six weeks pregnant.[24] It was one of several states passing heartbeat bills in April and May, 2019 alongside Missouri, Louisiana and Alabama.[25]
### Judicial history[edit]
The US Supreme Court's decision in 1973's Roe v. Wade ruling meant the state could no longer regulate abortion in the first trimester.[10][26] In 1973, the US Supreme Court rules in a case named Doe v. Bolton. The 7 - 2 ruling invalidated the law in Georgia that said women needed to seek and attain permission from three physicians before she could have an abortion performed on her. The Court said Georgia's law put too many restrictions on women seeking to get an abortion, making it unconstitutional.[26][27]
Number of abortion clinics in Georgia by year
After HB 481 was passed in May 2019, the American Civil Liberties Union, Planned Parenthood and the Center for Reproductive Rights sued the state and sought an injunction against enforcement of the ban before it would go into effect in January 2020. The case was heard in the United States District Court for the Northern District of Georgia under Judge Steve C. Jones. Jones ruled in favor of the injunction to block enforcement in his decision in October 2019, stating "By banning pre-viability abortions, H.B. 481 violates the constitutional right to privacy, which, in turn, inflicts per se irreparable harm on Plaintiffs."[28]
## Statistics[edit]
In the period between 1972 and 1974, the state had an illegal abortion mortality rate per million women aged 15 – 44 of between 0.1 and 0.9.[29] In 1990, 796,000 women in the state faced the risk of an unintended pregnancy.[30] In 2010, the state had eight publicly funded abortions, of which all eight were federally funded.[31]In 2014, 48% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.[1]
According to a 2020 study, the 22-week law reduced the number of abortions after 21 weeks.[32]
Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996[33] Census division and state Number Rate % change 1992–1996
1992 1995 1996 1992 1995 1996
South Atlantic 269,200 261,990 263,600 25.9 24.6 24.7 –5
Delaware 5,730 5,790 4,090 35.2 34.4 24.1 –32
District of Columbia 21,320 21,090 20,790 138.4 151.7 154.5 12
Florida 84,680 87,500 94,050 30 30 32 7
Georgia 39,680 36,940 37,320 24 21.2 21.1 –12
Maryland 31,260 30,520 31,310 26.4 25.6 26.3 0
North Carolina 36,180 34,600 33,550 22.4 21 20.2 –10
South Carolina 12,190 11,020 9,940 14.2 12.9 11.6 –19
Virginia 35,020 31,480 29,940 22.7 20 18.9 –16
West Virginia 3,140 3,050 2,610 7.7 7.6 6.6 –14
Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents, US CDC estimates Location Residence Occurrence % obtained by
out-of-state residents
Year Ref
No. Rate^ Ratio^^ No. Rate^ Ratio^^
Georgia 39,680 24 1992 [33]
Georgia 36,940 21.2 1995 [33]
Georgia 37,320 21.1 1996 [33]
Georgia 26,563 12.6 203 30,013 14.3 229 12.3 2014 [34]
Georgia 26,835 12.7 204 31,009 14.6 236 14.5 2015 [2]
Georgia 29,631 13.9 228 33,811 15.9 260 13.4 2016 [35]
^number of abortions per 1,000 women aged 15-44; ^^number of abortions per 1,000 live births
## Footnotes[edit]
1. ^ According to the Supreme Court's decision in Roe v. Wade:
> (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Likewise, Black's Law Dictionary defines abortion as "knowing destruction" or "intentional expulsion or removal".
## References[edit]
1. ^ a b "Views about abortion by state - Religion in America: U.S. Religious Data, Demographics and Statistics". Pew Research Center. Retrieved 2019-05-23.
2. ^ a b Jatlaoui, Tara C. (2018). "Abortion Surveillance — United States, 2015". MMWR. Surveillance Summaries. 67 (13): 1–45. doi:10.15585/mmwr.ss6713a1. ISSN 1546-0738. PMC 6289084. PMID 30462632.
3. ^ Watson, Katie (20 Dec 2019). "Why We Should Stop Using the Term "Elective Abortion"". AMA Journal of Ethics. 20: E1175-1180. doi:10.1001/amajethics.2018.1175. PMID 30585581. Retrieved 17 May 2019.
4. ^ Chamberlain, Pam; Hardisty, Jean (2007). "The Importance of the Political 'Framing' of Abortion". The Public Eye Magazine. 14 (1).
5. ^ "The Roberts Court Takes on Abortion". New York Times. November 5, 2006. Retrieved January 18, 2008.
6. ^ Brennan 'Dehumanizing the vulnerable' 2000
7. ^ Getek, Kathryn; Cunningham, Mark (February 1996). "A Sheep in Wolf's Clothing – Language and the Abortion Debate". Princeton Progressive Review.
8. ^ "Example of "anti-life" terminology" (PDF). Archived from the original (PDF) on 2011-07-27. Retrieved 2011-11-16.
9. ^ Goldstein, Norm, ed. The Associated Press Stylebook. Philadelphia: Basic Books, 2007.
10. ^ a b Buell, Samuel (1991-01-01). "Criminal Abortion Revisited". New York University Law Review. 66: 1774–1831.
11. ^ Tyler, C. W. (1983). "The public health implications of abortion". Annual Review of Public Health. 4: 223–258. doi:10.1146/annurev.pu.04.050183.001255. ISSN 0163-7525. PMID 6860439.
12. ^ Times, The New York. "Abortion Restrictions in States". archive.nytimes.com. Retrieved 2019-05-25.
13. ^ "STATE POLICY ON INFORMED CONSENT FOR ABORTION" (PDF). Guttmacher Policy Review. Fall 2007. Retrieved May 22, 2019.
14. ^ a b c "State Abortion Counseling Policies and the Fundamental Principles of Informed Consent". Guttmacher Institute. 2007-11-12. Retrieved 2019-05-22.
15. ^ a b Lai, K. K. Rebecca (2019-05-15). "Abortion Bans: 8 States Have Passed Bills to Limit the Procedure This Year". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
16. ^ a b Emanuella Grinberg. "The reality for women seeking abortions in Alabama and Georgia". CNN. Retrieved 2019-06-08.
17. ^ 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.
18. ^ Prabhu, Maya (February 26, 2019). "Georgia Republican files 'heartbeat' bill that would effectively ban abortion". The Atlanta Journal-Constitution. Retrieved February 27, 2019. "State Rep. Ed Setzler on Monday introduced House Bill 481, which would outlaw abortions once a doctor can detect a heartbeat in the womb."
19. ^ Jimison, Robert (February 27, 2019). "Republican Lawmakers In Georgia Aim For Most Restrictive Abortion Law in The Country". Georgia Public Radio - GPB News. NPR. Retrieved February 27, 2019. "Before becoming governor, Brian Kemp campaigned on the promise to sign “the toughest abortion laws in the country.” . . . I back Mississippi's ban on abortions after fifteen weeks and vow to sign the toughest abortion laws in the country as your next governor. If abortion rights activists want to sue me...bring it! I'll fight for life at the Capitol and in the courtroom."
20. ^ "2019–2020 Regular Session - HB 481". legis.ga.gov. Georgia General Assembly. Retrieved March 8, 2019.
21. ^ Fink, Jenni (March 18, 2019). "GEORGIA SENATOR: ANTI-ABORTION BILL 'NATIONAL STUNT' IN RACE TO BE CONSERVATIVE STATE TO GET ROE V. WADE OVERTURNED". Newsweek. Retrieved March 19, 2019.
22. ^ Prabhu, Maya (March 29, 2019). "Georgia's anti-abortion 'heartbeat bill' heads to governor's desk". The Atlanta Journal-Constitution. Retrieved April 1, 2019.
23. ^ Mazzei, Patricia; Blinder, Alan (May 7, 2019). "Georgia Governor Signs 'Fetal Heartbeat' Abortion Law". New York Times. Retrieved May 11, 2019.
24. ^ "Could miscarriages land women in jail? Let's clarify these Georgia and Alabama abortion bills". The Washington Post. 2019.
25. ^ Lartey, Jamiles (2019-05-22). "Louisiana senate passes anti-abortion bill in latest attack on women's rights". The Guardian. ISSN 0261-3077. Retrieved 2019-05-22.
26. ^ a b Tribune, Chicago. "Timeline of abortion laws and events". chicagotribune.com. Retrieved 2019-05-23.
27. ^ "Timeline of Important Reproductive Freedom Cases Decided by the Supreme Court". American Civil Liberties Union. Retrieved 2019-05-25.
28. ^ Kelly, Caroline (October 1, 2019). "Federal judge blocks Georgia's controversial abortion ban". CNN. Retrieved October 1, 2019.
29. ^ Cates, Willard; Rochat, Roger (March 1976). "Illegal Abortions in the United States: 1972–1974". Family Planning Perspectives. 8 (2): 86. doi:10.2307/2133995. JSTOR 2133995. PMID 1269687.
30. ^ Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998). A State-By-State Review of Abortion and Reproductive Rights. DIANE Publishing. ISBN 9780788174810.
31. ^ "Guttmacher Data Center". data.guttmacher.org. Retrieved 2019-05-24.
32. ^ Hall, Kelli Stidham; Redd, Sara; Narasimhan, Subasri; Mosley, Elizabeth A.; Hartwig, Sophie A.; Lemon, Emily; Berry, Erin; Lathrop, Eva; Haddad, Lisa B.; Rochat, Roger; Cwiak, Carrie (2020-05-21). "Abortion Trends in Georgia Following Enactment of the 22-Week Gestational Age Limit, 2007–2017". American Journal of Public Health: e1–e5. doi:10.2105/AJPH.2020.305653. ISSN 0090-0036.
33. ^ a b c d "Abortion Incidence and Services in the United States, 1995-1996". Guttmacher Institute. 2005-06-15. Retrieved 2019-06-02.
34. ^ Jatlaoui, Tara C. (2017). "Abortion Surveillance — United States, 2014". MMWR. Surveillance Summaries. 66 (24): 1–48. doi:10.15585/mmwr.ss6624a1. ISSN 1546-0738. PMID 29166366.
35. ^ Jatlaoui, Tara C. (2019). "Abortion Surveillance — United States, 2016". MMWR. Surveillance Summaries. 68. doi:10.15585/mmwr.ss6811a1. ISSN 1546-0738.
Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* North Carolina
* North Dakota
* Ohio
* Oklahoma
* Oregon
* Pennsylvania
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* Utah
* 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Abortion in Georgia (U.S. state)
|
None
| 27,711 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Georgia_(U.S._state)
| 2021-01-18T18:42:59 |
{"wikidata": ["Q64876912"]}
|
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is caused by compound heterozygous mutations in the BRAT1 gene (614506) on chromosome 7p22.
Biallelic mutations in the BRAT1 gene can also cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL; 614498), a more severe disorder with overlapping features.
Clinical Features
Hanes et al. (2015) reported a girl, born of unrelated patients, with a neurodevelopmental disorder. After a normal neonatal period, she was noted to have delayed psychomotor development, poor eye fixation, nystagmus, stiffness, hand fisting, and staring spells. She sat at age 15 months, but never gained more advanced motor milestones and had no language. She had a small head, but no dysmorphic features. Examination showed horizontal nystagmus, difficulty swallowing, axial hypotonia with appendicular hypertonia, and ankle clonus. EEG was normal, but her spells were consistent with focal dyscognitive seizures. At age 2.5 years, she developed episodes of pallor, hyperthermia, and decreased responsiveness. She gained few new developmental milestones, but showed no regression. Brain imaging showed progressive generalized cerebellar atrophy and associated atrophy of the brainstem, as well as dysmyelination. She was alive at 3 years, 8 months, but functioned at a 6-month-old level.
Srivastava et al. (2016) reported 2 sisters (patients 1 and 2), born of unrelated parents, with a similar neurodevelopmental disorder. After a normal neonatal course, the girls presented in infancy with delayed psychomotor development, delayed walking (3 to 5 years of age), and delayed language acquisition. The patients were able to speak several words, point to body parts, and say the letters of the alphabet around 3 to 5 years of age. The older sister could write her name at age 7. Both developed disruptive, angry, and defiant behaviors around 5 years of age. They had axial hypotonia that improved with age and no evidence of rigidity; cerebellar signs included ataxic gait, truncal titubation, tremor, dysmetria, and nystagmus. Brain imaging showed cerebellar atrophy. The older sister did not have any seizure-like episodes, whereas the younger sister developed staring spells associated with normal EEG at age 6. Both also had dysmorphic features, including epicanthal folds, slightly high-arched palate, tented upper lip, and fifth finger clinodactyly. An unrelated girl (patient 3) had a similar disorder with delayed psychomotor development and language delay. She had dyspraxia with fine motor skills, rigid and wide-based gait with no arm swing, and could walk, but not run. Additional features included staring spells associated with autonomic changes of pallor and perioral cyanosis, small head circumference, mild optic nerve hypoplasia with impaired vision, and moderate appendicular rigidity. She had a flat facial profile and fifth finger clinodactyly. At age 4 years, she was very social and visually interactive and could follow simple commands. Brain imaging showed cerebellar atrophy and mild myelination delay.
Mundy et al. (2016) reported a 6-year-old girl with onset of intractable seizures at 3 months of age. She had axial and peripheral hypertonia with hyperreflexia, a small head circumference, and dysmorphic features, including brachycephaly, long grooved philtrum, and thin lips. She developed apneic episodes at age 10 months. Developmental progress was delayed: she sat at age 15 months, babbled at age 17 months, and could stand with support at age 6 years, but could not walk. She had both hypotonia and hypertonia and developed apneic episodes at age 10 months. Brain MRI showed decreased myelination, thin corpus callosum, and cerebellar hypoplasia. Mundy et al. (2016) noted that the patient had a severe phenotype with severe intellectual disability and intractable seizures, but was still alive, unlike patients with RMFSL.
Inheritance
The transmission pattern of NEDCAS in the families reported by Srivastava et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a girl with NEDCAS, Hanes et al. (2015) identified compound heterozygous mutations in the BRAT1 gene (614506.0006 and 614506.0007). The mutations, which were found through a next-generation sequencing panel for neurologic disorders, segregated with the disorder in the family. Functional studies of the variants and studies of patients cells were not performed. Hanes et al. (2015) postulated that patients with compound heterozygous BRAT1 mutations may have a less severe phenotype than patients with homozygous mutations.
In 3 patients from 2 unrelated families with NEDCAS, Srivastava et al. (2016) identified compound heterozygous mutations in the BRAT1 gene (614506.0001 and 614506.0008-614506.0009). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Functional studies of the variants and studies of patient cells were not performed.
In a 6-year-old girl with NEDCAS, Mundy et al. (2016) identified compound heterozygous mutations in the BRAT1 gene (c.294dupA, 614506.0006 and A642E, 614506.0011). Functional studies of the variants and studies of patient cells were not performed.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Small head circumference \- Microcephaly Face \- Wide face \- Long philtrum Eyes \- Epicanthal folds \- Nystagmus \- Poor eye fixation \- Impaired vision (in some patients) Mouth \- Tented upper lip \- Thin lips \- High-arched palate RESPIRATORY \- Apneic episodes ABDOMEN Gastrointestinal \- Feeding difficulties \- Swallowing problems SKELETAL Hands \- Fifth finger clinodactyly \- Hand fisting MUSCLE, SOFT TISSUES \- Axial hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Delayed walking \- Speech delay \- Poor or absent speech \- Intellectual disability \- Gait ataxia \- Truncal titubation \- Dysmetria \- Tremor \- Hypertonia \- Hyperreflexia \- Cerebellar signs \- Cerebellar atrophy \- Decreased myelination \- Thin corpus callosum \- Seizures (in most patients) \- Staring spells Behavioral Psychiatric Manifestations \- Agitation \- Disruptive behavior MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the BRCA1-associated ATM activator 1 gene (BRAT1, 614506.0001 ) ▲ 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
|
c3281029
| 27,712 |
omim
|
https://www.omim.org/entry/618056
| 2019-09-22T15:43:51 |
{"omim": ["614498", "618056"], "orphanet": ["435845"], "synonyms": ["Lethal neonatal rigidity-multifocal seizure syndrome"]}
|
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
|
c3806742
| 27,713 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431140
| 2021-01-23T19:11:54 |
{"omim": ["300915"], "icd-10": ["Q87.0"], "synonyms": ["X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"]}
|
High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
High-grade neuroendocrine carcinoma of the cervix uteri
|
None
| 27,714 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213777
| 2021-01-23T17:40:39 |
{"icd-10": ["C53.0", "C53.1", "C53.8"], "synonyms": ["High-grade neuroendocrine carcinoma of the uterine cervix", "Poorly differentiated neuroendocrine carcinoma of the cervix uteri", "Poorly differentiated neuroendocrine cervical carcinoma"]}
|
16th century epidemics in New Spain
Indigenous victims, Florentine Codex (compiled 1540–1585)
The cocoliztli epidemic or the great pestilence[1] is a term given to millions of deaths in the territory of New Spain in present-day Mexico in the 16th century attributed to one or more illnesses collectively called cocoliztli, a mysterious illness characterized by high fevers and bleeding. It ravaged the Mexican highlands in epidemic proportions. The disease became known as Cocoliztli by the native Aztecs, and had devastating effects on the area’s demography, particularly for the indigenous people. Based on the death toll, this outbreak is often referred to as the worst disease epidemic in the history of Mexico.[2] Subsequent outbreaks continued to baffle both Spanish and native doctors, with little consensus among modern researchers on the pathogenesis. However, recent bacterial genomic studies have suggested that Salmonella, specifically a serotype of Salmonella enterica known as Paratyphi C, was at least partially responsible for this initial outbreak.[3] It might have also been an indigenous viral hemorrhagic fever, perhaps exacerbated by the worst droughts to affect that region in 500 years, as well as living conditions for indigenous peoples of Mexico in the wake of the Spanish conquest (c. 1519).[4]
## Contents
* 1 Etymology
* 2 History
* 2.1 Sources and vectors
* 2.2 Extent
* 3 Symptoms
* 4 Causes
* 5 Effects
* 5.1 Death toll
* 5.2 Other
* 6 Later outbreaks
* 7 See also
* 8 References
* 9 Bibliography
* 10 External links
## Etymology[edit]
The word cocoliztli originated from the Nahuatl word for "pest",[4] or disease, illness, and plague.
## History[edit]
Collapse of population in Mexico during the 16th century, attributed at least in part to repeated cocoliztli epidemics.[5]
There have been 12 epidemics that have been identified as potentially being of cocoliztli, with the largest ones being those in 1520, 1545, 1576, 1736, and 1813.[6] Soto et al. have hypothesized that a large scale outbreak of hemorrhagic fever could also have contributed to the earlier collapse of the Classic Mayan civilization (AD 750–950), though most experts believe other factors including climate change likely played a much larger role.[7][8]
Cocoliztli epidemics usually occurred within two years of a major drought, while another disease called "matlazahuatl" appeared within two years of the rainy season. The epidemic in 1576 occurred after a drought stretching from Venezuela to Canada.[9][6] The correlation between drought and the disease has been thought to be that population numbers of the vesper mouse, a carrier of viral hemorrhagic fever, increased during the rains that followed the drought, as conditions improved.[5]
There exists some ambiguity regarding if cocoliztli preferentially targeted native people, as opposed to European colonists. The majority of firsthand accounts regarding the outbreak come from Aztec informants, who were primarily concerned with the diseases’ novelty and pronounced symptoms. Spanish colonizers may have used indigenous fears to further justify and enforce Christianity, as expressed by the following statement from Gonzalo de Ortiz (an encomendero): "envió Dios tal enfermedad sobre ellos que de quarto partes de indios que avia se llevó las tres" (God sent down such sickness upon the Indians that three out of every four of them perished).[10] It is unclear if Ortiz was exaggerating, or if the Spanish colonizers were truly less affected by this "act of God". Accounts by Toribio de Benavente Motolinia, an early Spanish missionary, seem to contradict Ortiz’s sentiment by suggesting that 60–90% of New Spain's total population decreased, regardless of ethnicity.[2] Bernardino de Sahagún, another Spanish clergyman and author of the Florentine Codex, attested to contracting the disease himself towards the end of the outbreak.[2] During a second cocoliztli outbreak in 1576, Sahagún identified both African slaves and Spanish colonists as being susceptible to the disease.[citation needed]
### Sources and vectors[edit]
The social and physical environment of Colonial Mexico was likely key in allowing the Outbreak of 1545–1548 to reach the heights that it did. Already weakened by war and earlier disease outbreaks, the Aztecs were forced into easily governable reducciones (congregations) that focused on agricultural production and conversion to Christianity.[11] The reducciones would have not only brought people in much closer contact to one another, but with animals, as well. Whether it is rats, chickens, pigs, or cattle, animals imported from the Old World were potentially disease vectors for illnesses of New and Old World origins.[citation needed]
At the same time, droughts plagued Central America, with tree-ring data showing that the outbreak occurred in the midst of a megadrought.[4] The lack of water would have altered sanitary conditions and encouraged poor hygiene habits. Megadroughts were reported before both the 1545 and 1576 outbreaks. Additionally, periodic rains during a supposed megadrought, such as those hypothesized for shortly before 1545, would have increased the presence of New World rats and mice.[12] These animals are believed to have also been able to transport the arenaviruses capable of causing hemorrhagic fevers.[13] The effects of drought, combined with the now crowded settlements, is a highly plausible explanation for disease transmission, especially if the pathogens are spread by either human fecal matter or animals.[citation needed]
As alluded to above, the Aztecs and other indigenous groups affected by the outbreak were potentially put at a disadvantage given their lack of exposure to zoonotic diseases. Given that many of the Old World pathogens being considered as responsible for the cocoliztli outbreak, it is significant that all but one of the most common species of domestic mammalian livestock (llamas/alpacas being the exception) come from the Old World.[14]
### Extent[edit]
Scholars suspect it began in the southern and central Mexico Highlands, near modern-day Puebla City.[2] Shortly after its initial onset, however, it may have spread as far north as Sinaloa,[15] and as south as Chiapas and Guatemala, where it was called gucumatz.[10] It may have even crossed the South American border, and into Ecuador[16] and Peru,[17] although it is hard to be certain that the same disease was described. The outbreak seemed to be limited to higher elevation, as it was nearly absent from coastal regions at sea level, e.g. the plains along the Gulf of Mexico and Pacific coast.[4]
## Symptoms[edit]
Although symptomatic descriptions of cocoliztli are similar to those of Old World diseases (e.g. measles, yellow fever, typhus), many researchers believe that it should be recognized as a separate disease.[3][12][18] According to Francisco Hernández de Toledo, a physician who witnessed the outbreak in 1576, symptoms included high fever, severe headache, vertigo, black tongue, dark urine, dysentery, severe abdominal and chest pain, head and neck nodules, neurologic disorders, jaundice, and profuse bleeding from the nose, eyes, and mouth; death frequently occurred within 3 to 4 days.[4] Some also describe the afflicted during this period as having spotted skin[19] and gastrointestinal hemorrhaging, leading to bloody diarrhea, as well as bleeding from the eyes, mouth, and vagina.[18] The onset was often rapid, and without any precursors that would suggest one was sick. The disease was characterized by an extremely high level of virulence, with death often occurring within a week of one becoming symptomatic.[20] Due to the virulence and effectiveness of the disease, recognizing its existence in the archaeological record has been difficult. Cocoliztli, and other diseases that work rapidly, usually do not leave impacts (lesions) on the decedent’s bones, despite causing significant damage to the gastrointestinal, respiratory, and other bodily systems.[21]
## Causes[edit]
Numerous 16th century accounts detail the outbreak’s devastation, but the symptoms do not match any known pathogen. Shortly after 1548, the Spanish started calling the disease tabardillo (typhus), which had only been recognized in Spain since the late 15th century.[12] However, the symptoms of cocoliztli were still not identical to the typhus, or spotted fever, observed in the Old World at that time. Perhaps, this is why Francisco Hernández de Toledo, a Spanish physician, insisted on using the Nahuatl word when describing the disease to correspondents in the Old World.[12] Centuries later, in 1970, a historian named Germain Somolinos d'Ardois took a systematic look at all the proposed explanations at the time, including haemorrhagic influenza, leptospirosis, malaria, typhus, typhoid and yellow fever.[18] According to Somolinos d'Ardois, none of these quite matched the 16th century accounts of cocoliztli, leading him to conclude the disease was a result of "viral process of hemorrhagic influence." In other words, Somolinos d'Ardois believed cocoliztli was not the result of any known Old World pathogen, but possibly, a virus of either European or New World origins.[citation needed]
It has been speculated that it might have been an indigenous viral hemorrhagic fever as there are accounts of similar diseases having struck Mexico in Precolumbian times. The Codex Chimalpopoca states that an outbreak of bloody diarrhea occurred in Colhuacan in 1320.[22] If the disease was indigenous, it was perhaps exacerbated by the worst droughts to affect that region in 500 years and living conditions for indigenous peoples of Mexico in the wake of Spanish conquest (c. 1519).[4] Some historians have suggested it was typhus, measles, or smallpox, though the symptoms did not match.[23]
Marr and Kiracofe (2000) attempted to build off this work by reexamining Hernandez’s account of cocoliztli and comparing them with various clinical descriptions of other diseases.[12] They suggested that scholars consider "New World arenaviruses" and the role these pathogens may have played in colonial disease outbreaks. Rebelling against the universal acceptance of Post-Contact epidemics being "Old-World importations," Marr and Kiracofe theorized that arenaviruses, which mainly affect rodents,[13] were largely kept away from Pre-Columbian people. Consequently, rat and mice infestations brought upon by the arrival of the Spanish may, combined with climatic and landscape change, have brought these arenaviruses into much closer contact with people. Subsequent studies seemed to have accepted the viral haemorrhagic fever diagnosis, and became more interested in assessing how the disease became so widespread.[20]
In 2018, Johannes Krause, an evolutionary geneticist at the Max Planck Institute for the Science of Human History, and colleagues discovered new evidence for an Old World culprit. DNA samples from the teeth of 29 sixteenth-century skeletons in the Oaxaca region of Mexico were identified as belonging to a rare strain of the bacterium Salmonella enterica (subsp. enterica) which causes paratyphoid fever, suggesting that paratyphoid was the underlying fever behind the disease.[24][25]
The team extracted ancient DNA from the teeth of 29 individuals buried at Teposcolula-Yucundaa in Oaxaca, Mexico. The Contact-era site has the only cemetery to be conclusively linked to victims of the Cocoliztli Outbreak of 1545–1548. Using the MEGAN alignment tool (MALT), a program that attempts to match fragments of extracted DNA with a database of bacterial genomes, the researchers were able to recognize nonlocal microbial infections.[citation needed]
Within 10 individuals, they identified Salmonella enterica subsp. enterica serovar Paratyphi C, which causes enteric fevers in humans.[26] This strain of Salmonella is unique to humans, and was not found in any soil samples or pre-Contact individuals that were used as controls. Enteric fevers, also known as typhoid or paratyphoid, are similar to typhus, and were only distinguished from one another in the 19th century.[27] Today, S. Paratyphi C continues to cause enteric fevers, and if untreated, has a mortality rate up to 15%.[28] Infections are largely limited to developing nations in Africa and Asia, although enteric fevers, in general, are still a health threat world wide.[29] Infections with S. Paratyphi C are rare, as the majority of cases reported (about 27 million in 2000) were the result of the serovars S. Typhi and S. Paratyphi A.[3]
These findings are boosted by the recent discovery of S. Paratyphi C within a 13th century Norwegian cemetery.[30] A young female, who likely died from an enteric fever, is proof that the pathogen was present in Europe over 300 years before the epidemics in Mexico. Thus, it is possible that healthy carriers transported the bacteria to the New World, where it thrived. Those who unknowingly possessed the bacteria were likely aided from generations of contact with it, as it is believed that S. Paratyphi C may have first transferred over to humans from swine in the Old World during, or, shortly after the Neolithic period.[30]
Some, including evolutionary geneticist, María Ávila-Arcos, have questioned this evidence, since S. enterica symptoms are poorly matched with the disease.[31][32][28] Both Ávila-Arcos, and even Krause’s team and authors of earlier historical analyses,[33] point out that RNA viruses, among other non-bacterial pathogens, had not been investigated. Others have highlighted the fact that certain symptoms described, including gastrointestinal hemorrhaging, are not present in current observations of S. Paratyphi C infections.[34] Ultimately, a more definitive proposal for the cause of any of the cocoliztli epidemics of 1545–1548 and 1576-81 awaits further developments in ancient RNA analysis and the causes of different outbreaks may prove to differ.[35][36]
## Effects[edit]
### Death toll[edit]
Beyond the estimations done by Motolinia and others for New Spain, most of the death toll figures cited for the outbreak of 1545–1548 are concerned with Aztec populations. Around 800,000 died in the Valley of Mexico, which led to the widespread abandonment of many indigenous sites in the area during, or, shortly after this four-year period.[19] Estimates for the entire number of human lives lost during this epidemic have ranged from 5 to 15 million people,[37] making it one of the most deadly disease outbreaks of all time.[4]
### Other[edit]
The effects of the outbreak extended beyond just a loss in terms of population. The lack of indigenous labor led to a sizeable food shortage, which affected both the natives and Spanish.[38] The death of many Aztecs due to the plague led to a void in land ownership, with Spanish colonists of all backgrounds looking to exploit these now vacant lands.[38] Coincidentally, the Spanish Emperor, Charles V, had been seeking a way to disempower the encomendero class, and establish a more efficient and "ethical" settlement system.[39]
Starting around the end of the outbreak in 1549, the encomederos, crippled by the loss in profits resulting and unable to meet the demands of New Spain, were forced to comply with the new tasaciones (regulations).[38] The new ordinances, known as Leyes Nuevas aimed to limit the amount of tribute encomenderos could personally extract, while also prohibiting them from exercising absolute control over the labor force.[40] Simultaneously, non-encomenderos began claiming lands lost by the encomenderos, as well as, the labor provided by the indigenous. This developed in to the implementation of the repartimiento system, which sought to institute a higher level of oversight within the Spanish colonies and maximize the overall tribute extracted for public and crown use.[38] Rules regarding tribute itself were also changed in response to the epidemic of 1545, as fears over future food shortages ran rampant among the Spanish. By 1577, after years of debate and a second major outbreak of cocoliztli, maize and money were designated as the only two forms of acceptable tribute.[19][38]
## Later outbreaks[edit]
A second large outbreak of cocoliztli occurred in 1576, lasting until about 1580. Although less destructive (around 2 million deaths) than its predecessor, this outbreak appears in much greater detail in colonial accounts.[18] Many of the descriptions of cocoliztli symptoms, beyond the bleeding, fevers, and jaundice, were recorded during this epidemic. In total, there are 13 cocoliztli epidemics cited in Spanish accounts between 1545 and 1642, with a later outbreak in 1736 taking a similar form, but referred to by a different name (tlazahuatl).[20]
## See also[edit]
* Virgin soil epidemic
* Columbian Exchange
* Ecological imperialism
* Millenarianism in colonial societies
## References[edit]
1. ^ Skaarup 2015, p. 205.
2. ^ a b c d Prem, Hanns (1991). "Disease Outbreaks in Central Mexico During the Sixteenth Century". In Cook, Noble David; Lovell, W. George (eds.). "Secret Judgments of God": Old World Disease in Colonial Spanish America. Norman: University of Oklahoma Press. pp. 20–48. ISBN 0806123729.
3. ^ a b c Vågene, Åshild; et al. (2018). "Salmonella enterica genomes from victims of a major sixteenth-century epidemic in Mexico". Nature Ecology & Evolution. 2 (3): 520–528. doi:10.1038/s41559-017-0446-6. PMID 29335577.
4. ^ a b c d e f g Acuna-Soto, R.; Stahle, D. W.; Cleaveland, M. K.; Therrell, M. D (April 2002). "Megadrought and megadeath in 16th century Mexico". Emerging Infectious Diseases. 8 (4): 360–362. doi:10.3201/eid0804.010175. PMC 2730237. PMID 11971767.
5. ^ a b ""Huey cocoliztli" en el México del siglo XVI: ¿una enfermedad emergente del pasado?". www.madrimasd.org. Retrieved 8 December 2015.
6. ^ a b "Fiebres hemorrágicas causa de muerte en las culturas originarias". www.ciudadania-express.com. Retrieved 6 December 2015.
7. ^ Turner, B. L.; Sabloff, J. A. (21 August 2012). "Classic Period collapse of the Central Maya Lowlands: Insights about human-environment relationships for sustainability". Proceedings of the National Academy of Sciences. 109 (35): 13908–13914. Bibcode:2012PNAS..10913908T. doi:10.1073/pnas.1210106109. PMC 3435155. PMID 22912403.
8. ^ Haug, G. H. (14 March 2003). "Climate and the Collapse of Maya Civilization". Science. 299 (5613): 1731–1735. Bibcode:2003Sci...299.1731H. doi:10.1126/science.1080444. PMID 12637744.
9. ^ "Cocoliztli y Matlazahuatl". www.zocalo.com.mx. Retrieved 6 November 2015.
10. ^ a b Lovell, W. George (1991). "Disease and Depopulation in Early Colonial Guatemala". In Cook, Noble David; Lovell, W. George (eds.). "Secret Judgments of God": Old World Disease in Colonial Spanish America. Norman: University of Oklahoma Press. pp. 49–83. ISBN 0806123729.
11. ^ Rice, Prudence (2012). "Torata Alta: An Inka Administrative Center and Spanish Colonial Reducción in Moquegua, Peru". Latin American Antiquity. 23 (1): 3–28. doi:10.7183/1045-6635.23.1.3.
12. ^ a b c d e Marr, John; Kiracofe, J.B. (2000). "Was Huey Cocoliztli a Haemorrhagic fever?". Medical History. 44 (3): 341–262. doi:10.1017/S0025727300066746. PMC 1044288. PMID 10954969. S2CID 8951159.
13. ^ a b Bowen, Michael; Peters, Clarence; Nichol, Stuart (1997). "Phylogenetic Analysis of theArenaviridae: Patterns of Virus Evolution and Evidence for Cospeciation between Arenaviruses and Their Rodent Hosts". Molecular Phylogenetics and Evolution. 8 (3): 301–316. doi:10.1006/mpev.1997.0436. PMID 9417890.
14. ^ Wolfe, Nathan; Dunavan, Claire; Diamond, Jared (2007). "Origins of Major Human Infectious Diseases". Nature. 447 (7142): 279–83. Bibcode:2007Natur.447..279W. doi:10.1038/nature05775. PMC 7095142. PMID 17507975.
15. ^ Reff, Daniel (1991). Disease, Depopulation, and Culture Change in Northwestern New Spain, 1518-1764. Salt Lake City: University of Utah Press. ISBN 0874803551.
16. ^ Newson, Linda (1991). "Old World Epidemics in Ecuador". In Cook, Noble David; Lovell, W. George (eds.). "Secret Judgments of God": Old World Disease in Colonial Spanish America. Norman: University of Oklahoma Press. pp. 84–112. ISBN 0806123729.
17. ^ Evans, Brian (1991). "Death in Aymaya of Upper Peru, 1580–1623". In Cook, Noble David; Lovell, W. George (eds.). "Secret Judgments of God": Old World Disease in Colonial Spanish America. Norman: University of Oklahoma Press. ISBN 0806123729.
18. ^ a b c d Somolinos d'Ardois, Germaine (1970). "La epidemia de Cocoliztli de 1545 senalada en un codice". Tribuna Medica. 15 (4): 85.
19. ^ a b c Warinner, Christina; et al. (2012). "Disease, demography, and diet in early colonial New Spain: investigation of a sixteenth-century Mixtec cemetery at Teposcolula Yucundaa". Latin American Antiquity. 23 (4): 467–489. doi:10.7183/1045-6635.23.4.467. hdl:11858/00-001M-0000-002B-7496-6.
20. ^ a b c Acuña-Soto, Roldalfo; Calderón Romero, Leticia; Maguire, James (2000). "Large epidemics of hemorrhagic fevers in Mexico 1545–1815". The American Journal of Tropical Medicine and Hygiene. 62 (6): 733–739. doi:10.4269/ajtmh.2000.62.733. PMID 11304065.
21. ^ Siek, Thomas (2013). "The Osteological Paradox and Issues of Interpretation in Paleopathology". Vis-à- Vis: Explorations in Anthropology. 12 (1): 92–101.
22. ^ John Bierhorst, History and Mythology of the Aztecs: The Codex Chimalpopoca pg 66.
23. ^ "La epidemia de cocoliztli de 1576" (PDF). Instituto Nacional de Antropología e Historia. Retrieved 30 November 2015.
24. ^ "500 years later, scientists discover what probably killed the Aztecs". The Guardian. AFP. 18 January 2018. Retrieved 16 January 2018.
25. ^ Hersher, Rebecca (16 January 2017). "Salmonella May Have Caused Massive Aztec Epidemic, Study Finds". National Public Radio. Retrieved 2018-01-17.
26. ^ Judd, Michael; Mintz, Eric (2014). "Chapter 3: Typhoid & Paratyphoid Fever". In Newton, Anna (ed.). CDC Health Information for International Travel: The Yellow Book. Oxford: Oxford Press. ISBN 9780199948499.
27. ^ Smith, Dale (1980). "Gerhard's distinction between typhoid and typhus and its reception in America, 1833-1860". Bulletin of the History of Medicine. 54 (3): 368–385. JSTOR 44441270. PMID 6998525.
28. ^ a b Callaway, Ewen (2017). "Collapse of Aztec society linked to catastrophic salmonella outbreak". Nature. 542 (7642): 404. doi:10.1038/nature.2017.21485. PMID 28230141.
29. ^ "2014 National Typhoid and Paratyphoid Fever Surveillance Annual Summary" (PDF). CDC. Retrieved 20 April 2018.
30. ^ a b Zhou, Zhemin; et al. (2017). "Millennia of genomic stability within the invasive Para C Lineage of Salmonella enterica". bioRxiv. doi:10.1101/105759.
31. ^ "What Wiped Out the Aztecs? Scientists Find New Clues". National Geographic News. 16 January 2018. Retrieved 6 June 2019.
32. ^ Chen, Angus (16 January 2018). "One of history's worst epidemics may have been caused by a common microbe". Science. Retrieved 6 June 2019.
33. ^ Community, Nature Research Ecology & Evolution (2018-01-15). "Enteric fever in sixteenth-century Mexico". Nature Research Ecology & Evolution Community. Retrieved 2020-04-11.
34. ^ Puente, Jose Luis; Calva, Edmundo (2017). "The One Health Concept—the Aztec empire and beyond". Pathogens and Disease. 75 (6). doi:10.1093/femspd/ftx062. PMID 28605517.
35. ^ Lindqvist, Charlotte; Rajora, Om P., eds. (2019). Paleogenomics: Genome-Scale Analysis of Ancient DNA. Population Genomics. Springer International Publishing. ISBN 978-3-030-04752-8.
36. ^ Community, Nature Research Ecology & Evolution (2018-01-15). "Enteric fever in sixteenth-century Mexico". Nature Research Ecology & Evolution Community. Retrieved 2020-04-11.
37. ^ Acuna-Soto, Rodolfo; et al. (2004). "When half of the population died: the epidemic of hemorrhagic fevers of 1576 in Mexico". FEMS Microbiology Letters. 240 (1): 1–5. doi:10.1016/j.femsle.2004.09.011. PMC 7110390. PMID 15500972.
38. ^ a b c d e Gibson 1964.
39. ^ Espinsoa, Aurelio (2006). "The Spanish Reformation: Institutional Reform, Taxation, And The Secularization Of Ecclesiastical Properties Under Charles V". The Sixteenth Century Journal. 37 (1): 3–24.
40. ^ Prem, Hanns (1992). "Spanish colonization and Indian property in central Mexico, 1521–1620". Annals of the Association of American Geographers. 82 (3): 444–459. doi:10.1111/j.1467-8306.1992.tb01969.x.
## Bibliography[edit]
* Skaarup, Bjørn Okholm (2015). Anatomy and Anatomists in Early Modern Spain (1st ed.). Routledge. p. 205. ISBN 978-1472448262.CS1 maint: ref=harv (link)
* Gibson, Charles (1964). The Aztecs Under Spanish Rule: A history of the Indians of the Valley of Mexico 1519–1810. Stanford: Stanford University Press.
## External links[edit]
* "Megadeath in Mexico". discovermagazine.com. Retrieved 2015-11-28.
* "'Ebola' bug wiped out the Aztecs". The Guardian. Retrieved 2015-11-28.
* "Expert: Native disease killed Aztecs, not outsiders". chron.com. Retrieved 2015-12-05.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Cocoliztli epidemics
|
None
| 27,715 |
wikipedia
|
https://en.wikipedia.org/wiki/Cocoliztli_epidemics
| 2021-01-18T18:28:45 |
{"wikidata": ["Q63472138"]}
|
A number sign (#) is used with this entry because one form of familial partial lipodystrophy (FPLD3) is caused by heterozygous mutation in the PPARG gene (601487) on chromosome 3p25.
For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.
Clinical Features
Barroso et al. (1999) reported a 56-year-old female who presented at age 20 with irregular menstrual periods and primary infertility. She later had 2 pregnancies, one of them by assisted conception, that were complicated by gestational diabetes and preeclampsia. She continued to have frank type II diabetes (125853) requiring insulin treatment and severe sustained hypertension. Her son developed severe hypertension and diabetes. Barroso et al. (1999) reported another patient from a different kindred who had been identified at age 15 with primary amenorrhea, hirsutism, acanthosis nigricans, and elevated blood pressure. Her glucose tolerance was initially normal, but with markedly elevated fasting and postprandial insulin levels. By age 17, she had developed type II diabetes and her hypertension required treatment with beta-blockers. In a follow-up study, Savage et al. (2003) found that the patients reported by Barroso et al. (1999) had clinical features of partial lipodystrophy characterized by loss of subcutaneous limb and gluteal fat with preservation of visceral and subcutaneous abdominal fat. There was normal or mildly decreased facial fat. All patients had fatty infiltration of the liver, with 1 case of cirrhosis. Hyperuricemia was also noted.
Hegele et al. (2002) reported a 3-generation Canadian family in which 4 members had autosomal dominant familial partial lipodystrophy. The proband was a 46-year-old woman of Anglo-Saxon descent in whom the diagnosis of partial lipodystrophy had been based on prominent muscularity of her calves and lower arms, marked atrophy of gluteal fat, and marked centripetal distribution of adipose tissue, with accumulation of subcutaneous facial, neck, suprascapular, and abdominal fat. The same abnormal fat distribution was present in the other 3 affected members of the family and had been present since adolescence in the proband and her daughter, who was 22 years old when clinically diagnosed with FPLD. Clinically, the phenotype was similar to that seen in the Canadian FPLD index probands with missense mutations in LMNA; see 150330.0010. However, differentiating features included the presence of some subcutaneous upper arm fat to the level of the surgical neck of the humerus, no phlebectasia, and less prominent muscularity of the arms and calves. The proband had type II diabetes since age 38. She had a history of irregular menses and had bilateral polycystic ovary disease. She also had hyperinsulinemia and type IV hyperlipoproteinemia. The proband's father was 71 years old. He had prominent muscularity of calves and lower arms due to paucity of subcutaneous fat. He had treated hypertension of 20 years' duration and type II diabetes of 18 years' duration. Despite no history of smoking, he suffered an anterior wall myocardial infarction at age 56. The proband's youngest brother was 39 years old, with prominent muscularity of calves and lower arms. Clinically, there was no hepatosplenomegaly or acanthosis nigricans in any of the subjects. No female subject had hirsutism.
Agarwal and Garg (2002) reported a 64-year-old non-Hispanic Caucasian woman who developed diabetes mellitus and hypertriglyceridemia at age 32 years, and loss of adipose tissue from the extremities and face at age 50 years. She also had hirsutism. Anthropometry and whole body magnetic resonance imaging revealed marked loss of subcutaneous fat, particularly from the extremities, but subcutaneous truncal fat was slightly increased.
Molecular Genetics
In a mother and son and an unrelated patient with insulin-resistant diabetes mellitus, acanthosis nigricans, hypertension, and partial lipodystrophy, Barroso et al. (1999) identified heterozygous mutations in the PPARG gene (see 601487.0007 and 601487.0008).
In affected members of a family with familial partial lipodystrophy, Hegele et al. (2002) identified a heterozygous mutation in the PPARG gene (601487.0012).
In a patient with familial partial lipodystrophy, Agarwal and Garg (2002) identified a heterozygous mutation in the PPARG gene (601487.0013). None of the 4 unaffected family members had the mutation.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Normal or decreased facial adipose tissue Neck \- Normal adipose tissue around neck CARDIOVASCULAR Vascular \- Hypertension \- Prominent superficial veins ABDOMEN Liver \- Hepatic steatosis \- Cirrhosis GENITOURINARY Internal Genitalia (Female) \- Polycystic ovary syndrome in some SKIN, NAILS, & HAIR Skin \- Acanthosis nigricans \- Prominent superficial veins Hair \- Hirsutism MUSCLE, SOFT TISSUES \- Loss of subcutaneous adipose tissue from extremities \- Loss of subcutaneous adipose tissue from gluteal region \- Some subcutaneous adipose tissue may remain on upper arms \- Normal or increased abdominal adipose tissue \- Normal or decreased facial and neck adipose tissue \- Prominent musculature ENDOCRINE FEATURES \- Hyperinsulinemia \- Insulin-resistant diabetes mellitus \- Oligomenorrhea \- Primary amenorrhea PRENATAL MANIFESTATIONS Maternal \- Gestational diabetes \- Preeclampsia LABORATORY ABNORMALITIES \- Hyperglycemia \- Increased serum triglycerides \- Decreased HDL cholesterol \- Hyperuricemia MISCELLANEOUS \- Onset of major clinical features in young adulthood \- Onset of insulin resistance may occur in childhood MOLECULAR BASIS \- Caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (PPARG, 601487.0007 ) ▲ 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
|
c1720861
| 27,716 |
omim
|
https://www.omim.org/entry/604367
| 2019-09-22T16:12:10 |
{"doid": ["0070204"], "mesh": ["D052496"], "omim": ["604367"], "orphanet": ["79083"], "synonyms": ["Alternative titles", "LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS"]}
|
Dentin hypersensitivity
Other namesSensitive dentin,[1] dentin sensitivity,[2] cervical sensitivity,[3] cervical hypersensitivity[3]
SpecialtyDentistry
Dentin hypersensitivity (DH,[4] DHS)[5] is dental pain which is sharp in character and of short duration, arising from exposed dentin surfaces in response to stimuli, typically thermal, evaporative, tactile, osmotic, chemical or electrical; and which cannot be ascribed to any other dental disease.[5][3][6][7]
A degree of dentin sensitivity is normal, but pain is not usually experienced in everyday activities like drinking a cooled drink. Therefore, although the terms dentin sensitivity and sensitive dentin are used interchangeably to refer to dental hypersensitivity,[3] the latter term is the most accurate.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 5.1 Home Treatment
* 5.2 In-Clinic Therapy
* 6 Epidemiology
* 7 Prognosis
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
The pain is sharp and sudden, in response to an external stimulus.[7] The most common trigger is cold,[4] with 75% of people with hypersensitivity reporting pain upon application of a cold stimulus.[3] Other types of stimuli may also trigger pain in dentin hypersensitivity, including:
* Thermal – hot and cold drinks and foods,[7] cold air, coolant water jet from a dental instrument.
* Electrical – electric pulp testers.[8]
* Mechanical–tactile – dental probe during dental examination,[8] periodontal scaling and root planing,[8] toothbrushing.[7]
* Osmotic – hypertonic solutions such as sugars.[8]
* Evaporation – air blast from a dental instrument.[8]
* Chemical – acids,[8] e.g. dietary, gastric, acid etch during dental treatments.
The frequency and severity with which the pain occurs are variable.[5]
## Causes[edit]
Cross section of a tooth. Non-dentin layer is covered by enamel or cementum and gingiva.
An odontoblast cell showing odontoblast process (not in proportion – in reality this process is far longer than the body of the cell).
The real cause of dentine hypersensitivity is controversial. There have been several theories put forward to try and explain the cause of dentine hypersensitivity, these include: the ‘odontoblastic transduction theory’, the ‘neural theory’ and the ‘hydrodynamic theory’.[9]
The most commonly accepted model is called the hydrodynamic or fluid movement theory proposed by Brannstrom in 1964. According to this theory, when the exposed dentine surface is subjected to thermal, chemical, tactile or evaporative stimuli, the flow of the fluid within the tubules will be increased.[10]
Fluid movement inside the dentinal tubules may be away from or towards the pulp. Dentine contains many thousands of microscopic tubular structures that radiate outwards from the pulp; these dentinal tubules are typically 0.5–2 micrometres in diameter. Changes in the flow of the plasma-like biological fluid present in the dentinal tubules can trigger mechanoreceptors present on nerves located at the pulpal aspect, thereby eliciting a pain response. This hydrodynamic flow can be increased by cold, (air pressure), drying, sugar, sour (dehydrating chemicals), or forces acting on to the tooth. Hot or cold food or drinks, and physical pressure are typical triggers in those individuals with teeth sensitivity. Movement of dentinal fluid away from the pulp can be caused by triggers such as cold and drying and movement towards the pulp can be caused by heat. Research has shown that triggers causing dentinal fluid to move away from the pulp elicit more of a painful response.[11]
The odontoblastic transduction theory was suggested by Rapp et al. and they put forward that odontoblasts act as receptor cells, and conduct impulses via synaptic junctions to the end of the nerves and therefore cause the feeling of pain. However, there is not much evidence to support this theory.
The neural theory proposed that thermal or mechanical stimuli can directly influence nerve endings within the dentinal tubules via direct communication with the nerve endings of the pulp.
There are two common ways in which dentine can be exposed; gingival recession and tooth wear.[9] The main cause of DH is gingival recession (receding gums) with exposure of root surfaces, loss of the cementum layer and smear layer. Receding gums can be a sign of long-term trauma from excessive or forceful toothbrushing or abrasive toothpaste (dental abrasion), or a sign of chronic periodontitis (gum disease).[10] A less common cause is acid erosion, which is the loss of hard dental tissues due to acids e.g. related to gastroesophageal reflux disease, bulimia or excessive consumption of acidic foods and drinks. Repeated exposures to a low pH cause the mineral content of the teeth on the outer layer of enamel to dissolve therefore leaving the dentine exposed and leading to hypersensitivity. Other causes include dental bleaching, smoking tobacco (which can lead to recession and therefore sensitivity) cracked teeth and abfraction or grinding of teeth. Evidence of abfraction may be shown by wedge shaped defects that are developed at the cervical region of the teeth known as abfraction lesions. There is no direct relationship between abfraction lesions and diet, periodontal disease or abrasion.[12]
Most experts on this topic state that the pain of DH is in reality a normal, physiologic response of the nerves in a healthy, non-inflamed dental pulp in the situation where the insulating layers of gingiva and cementum have been lost;[5][3] i.e., dentin hypersensitivity is not a true form of allodynia or hyperalgesia. To contradict this view, not all exposed dentin surfaces cause DH.[3] Others suggest that due to the presence of patent dentinal tubules in areas of hypersensitive dentin, there may be increased irritation to the pulp, causing a degree of reversible inflammation.[12]
## Diagnosis[edit]
The diagnosis of DH may be challenging.[5] It is a diagnosis of exclusion, reached once all other possible explanations for the pain have been ruled out.[5] A thorough patient history and clinical examination are required.[5] The examination includes a pain provocation test by blasting air from a dental instrument onto the sensitive area, or gentle scratching with a dental probe.[13] If a negative result for the pain provocation test occurs, no treatment for dentinal hypersensitivity is indicated and another diagnosis should be sought, such as other causes of orofacial pain.[13]
Inflammation of the dental pulp, termed pulpitis, produces true hypersensitivity of the nerves in the dental pulp.[3] Pulpitis is classified as irreversible when pulpal inflammation will irreversibly progress to pulpal necrosis due to compression of the venous microcirculation and tissue ischemia, and reversible when the pulp is still capable of returning to a healthy, non-inflamed state, although usually dental treatment is required for this. Irreversible pulpitis is readily distinguishable from DH. There is poorly localized, severe pain which is aggravated by thermal stimuli, and which continues after the stimulus is removed. There also is typically spontaneous pain without any stimulus. Reversible pulpitis may not be so readily distinguishable from DH, however usually there will be some obvious sign such as a carious cavity, crack, etc. which indicates pulpitis. In contrast to pulpitis, the pain of DH is short and sharp.
## Prevention[edit]
Gingival recession and cervical tooth wear is one of the main causes of dentine hypersensitivity as it leads to the exposure of dentinal tubules. It can be avoided by healthy dietary and oral hygiene practices. By using a non-traumatic toothbrushing technique (i.e. a recommended technique such as the modified Bass technique rather than indiscriminately brushing the teeth and gums in a rough scrubbing motion) will help prevent receding gums and tooth wear around the cervical margin of teeth. Non-abrasive fluoride containing toothpastes should be used, at least twice daily for two minutes at a time. The consumption of acidic foods and drinks should be avoided but if done you should try limit this to only being consumed at mealtimes and rinse will still water afterwards. Importantly, the teeth should not be brushed immediately after acidic foods or drinks but ideally at least 30 minutes afterwards. It is recommended that anyone who suffers from acid reflux should seek medical treatment as to prevent their mouth being an acidic environment. A non-abrasive diet will also help to prevent tooth wear. Commonly, teeth whitening products can cause sensitivity. However, the increased sensitivity is temporary and should cease within a few days. If any sensitivity is experienced after using a tooth whitening product, taking a break may help.[14]
## Treatment[edit]
There is no universally accepted, gold-standard treatment which reliably relieves the pain of dental hypersensitivity in the long term, and consequently many treatments have been suggested which have varying degrees of efficacy when scientifically studied. Generally, they can be divided into in-office (i.e. intended to be applied by a dentist or dental therapist), or treatments which can be carried out at home, available over-the-counter or by prescription. OTC products are more suited for generalized, mild to moderate dentin hypersensitivity associated with several teeth, and in-office treatments for localized, severe DH associated with one or two teeth. Non-invasive, simple treatments which can be carried out at home should be attempted before in-office procedures are carried out.
The purported mechanism of action of these treatments is either occlusion of dentin tubules (e.g. resins, varnishes, toothpastes) or desensitization of nerve fibres/blocking the neural transmission (e.g. potassium chloride, potassium citrate, potassium nitrate).
### Home Treatment[edit]
At-home treatments include desensitizing toothpastes or dentifrices, potassium salts, mouthwashes and chewing gums.
A variety of toothpastes are marketed for dentin hypersensitivity, including compounds such as strontium chloride, strontium acetate, arginine, calcium carbonate, hydroxyapatite and calcium sodium phosphosilicate. Desensitizing chewing gums and mouthwashes are also mark
Potassium-containing toothpastes are common; however, the mechanism by which they may reduce hypersensitivity is unclear. Animal research has demonstrated that potassium ions placed in deep dentin cavities cause nerve depolarization and prevent re-polarization. It is not known if this effect would occur with the twice-daily, transient and small increase in potassium ions in saliva that brushing with potassium-containing toothpaste creates. In individuals with dentin hypersensitivity associated with exposed root surfaces, brushing twice daily with toothpaste containing 5% potassium nitrate for six to eight weeks reduces reported sensitivity to tactile, thermal and air blast stimuli. However, meta analysis reported that these individuals' subjective report of sensitivity did not significantly change after six to eight weeks of using the potassium nitrate toothpaste.
Desensitizing toothpastes containing potassium nitrate have been used since the 1980s while toothpastes with potassium chloride or potassium citrate have been available since at least 2000. It is believed that potassium ions diffuse along the dentinal tubules to inactivate intradental nerves. However, as of 2000, this has not been confirmed in intact human teeth and the desensitizing mechanism of potassium-containing toothpastes remains uncertain. Since 2000, several trials have shown that potassium-containing toothpastes can be effective in reducing dentin hypersensitivity, although rinsing the mouth after brushing may reduce their efficacy.
Studies have found that mouthwashes containing potassium salts and fluorides can reduce dentine hypersensitivity. A randomized clinical trial published in 2018 found promising results in controlling and reducing hypersensitivity when potassium oxalate mouthrinse was used in conjugation with toothbrushing. As of 2006, no controlled study of the effects of chewing gum containing potassium chloride has been made, although it has been reported as significantly reducing dentine hypersensitivity.
Nano-hydroxyapatite (nano-HAp) is considered one of the most biocompatible and bioactive materials and has gained wide acceptance in dentistry in recent years. An increasing number of reports have shown that nano-hydroxyapatite shares characteristics with the natural building blocks of enamel having the potential, due to its particle size, to occlude exposed dentinal tubules helping to reduce hypersensitivity and enhancing teeth remineralization. For this reason, the number of toothpastes and mouthwashes that already incorporate nano-hydroxyapatite as a desensitizing agent is increasing.[14]
Bioglass is a relatively new technology in toothpaste formulations. BioMin, a bioactive glass of calcium fluoro phosphosilicate, provides faster and longer lasting relief against sensitivity through deep tubular occlusion.[citation needed]
Treatments used for dentin hypersensitivity.[3]
Intended mechanism of action Example(s)
Nerve desensitization
Potassium nitrate
Protein precipitation
Glutaraldehyde
Silver nitrate
Zinc chloride
Strontium chloride hexahydrate
Plugging dentinal tubules
Sodium fluoride
Stannous fluoride
Strontium chloride
Silver diammine fluoride
Potassium oxalate
Calcium phosphate
Calcium carbonate
Bioactive glasses (SiO2–P2O5–CaO–Na2O)
Dentin adhesive sealers
Fluoride varnishes
Oxalic acid and resin
Glass ionomer cements
Composites
Dentin bonding agents
Lasers
Neodymium:yttrium aluminum garnet (Nd:YAG) laser
Galium-aluminium-arsenide (GaAlAs) laser
Erbium-yttrium aluminum garnet (Er:YAG) laser
### In-Clinic Therapy[edit]
In-clinic treatments can include the placement of materials to seal dental tubules or the wearing of appliances at night if the cause of the sensitivity stems from night-time grinding.
Fissure sealants, resin, or glass ionomer materials can be placed over areas of the tooth causing particular sensitivity in order to penetrate the exposed tubules and seal them against the external environment. Duraphat varnish, which is a high concentration fluoride varnish, can be applied at regular intervals to reduce the severity of the symptoms of dentine hypersensitivity. then it will permanently be stained black.[14]
## Epidemiology[edit]
Dentin hypersensitivity is a relatively common condition.[4][3] Due to differences in populations studied and methods of detection, the reported incidence ranges from 4-74%.[3] Dentists may under-report dentin hypersensitivity due to difficulty in diagnosing and managing the condition.[4] When questionnaires are used, the reported incidence is usually higher than when clinical examination is used.[3] Overall, it is estimated to affect about 15% of the general population to some degree.[7]
It can affect people of any age, although those aged 20–50 years are more likely to be affected.[3] Females are slightly more likely to develop dentin hypersensitivity compared to males.[3] The condition is most commonly associated with the maxillary and mandibular canine and bicuspid teeth on the facial (buccal) aspect,[3] especially in areas of periodontal attachment loss.[12]
Dentine hypersensitivity is commonly experienced by patients. Studies reveal prevalence rates can range from 3-98%.[15] Prevalence is found to be higher in patient questionnaire studies, 74%, over diagnostic studies, 15-30%.[16] Diagnostic studies are where patients are diagnosed on classical symptoms (rapid, sharp, short duration). This discrepancy in range can be explained by DH being underreported due to the difficulties patients face when describing symptoms. The scale of symptoms for DH are so variant, some patients are unable to eat ice cream or drink cold water, whereas for others, discomfort is episodic in nature. Episodic symptoms of DH is the likely reason why some patients fail to report the discomfort.[16] Hence having a negative effect on the number of diagnoses. If a patient does not complain of the symptoms then no additional screening checks are in place for dentin hypersensitivity and often the diagnosis is missed. It must be remembered that DH is seen as a diagnosis of exclusion.[16]
Although DH affects all age groups, varying from 20–50 years, it most commonly peaks between 30–40 years. Females are more affected by DH.[9] It can be said that this is due to females having diets high in erosive acids and diligent oral hygiene methods. Another contributing factor to this theory, is that females attend the dentist on a more regular basis, discuss health problems more readily than males which can lead to some bias in the DH being more prevalent in females. Hence the findings from some studies that DH does not significantly affect females over males.[15]
A large number of DH cases are linked to periodontal disease and follow as a result of periodontal treatment. Surgical and non-surgical periodontal treatment is said to have the same effect on DH. As part of the periodontitis disease process, recession and root exposure are prevalent. The aim of periodontal treatment is to reduce the inflammation that presents. Treatment strategies also lead to the removal of cementum, smear layer and exposure of dentinal tubules, furthermore causing DH for patients. Within the elderly generation periodontal disease is more prevalent however, DH is not a common diagnosis in the elderly. DH decreases during 40–50 years, a plausible explanation or this is the result of sclerosing of canals and formation of tertiary dentine.[15]
DH can present on several teeth in the whole of the mouth, on teeth in one part of the mouth or on a single tooth. Premolars and canines tend to present with hypersensitivity more readily followed by molars5, this is true for upper and lower arches. Maxillary teeth are more commonly affected. Sites of teeth affected are cervical aspect buccal sites on teeth.[15]
## Prognosis[edit]
Dentin hypersensitivity may affect individuals' quality of life.[4] Over time, the dentin-pulp complex may adapt to the decreased insulation by laying down tertiary dentin, thereby increasing the thickness between the pulp and the exposed dentin surface and lessening the symptoms of hypersensitivity.[12] Similar process such as formation of a smear layer (e.g. from toothbrushing) and dentin sclerosis.[12] These physiologic repair mechanisms, which occur at a naturally slow pace, are likely to occur with or without any form of treatment.
## See also[edit]
* Remineralization of teeth
## References[edit]
1. ^ "International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010". World Health Organization. Retrieved 21 December 2013.
2. ^ "Medical Subject Headings". National Library of Medicine. Retrieved 21 December 2013.
3. ^ a b c d e f g h i j k l m n o Miglani, Sanjay; Aggarwal, Vivek; Ahuja, Bhoomika (2010). "Dentin hypersensitivity: Recent trends in management". Journal of Conservative Dentistry. 13 (4): 218–24. doi:10.4103/0972-0707.73385. PMC 3010026. PMID 21217949.
4. ^ a b c d e Karim, B. F. A; Gillam, D. G (2013). "The Efficacy of Strontium and Potassium Toothpastes in Treating Dentine Hypersensitivity: A Systematic Review". International Journal of Dentistry. 2013: 573258. doi:10.1155/2013/573258. PMC 3638644. PMID 23653647.
5. ^ a b c d e f g Türp, Jens C. (28 December 2012). "Discussion: how can we improve diagnosis of dentin hypersensitivity in the dental office?". Clinical Oral Investigations. 17 (S1): 53–54. doi:10.1007/s00784-012-0913-z. PMC 3585981. PMID 23269545.
6. ^ Canadian Advisory Board on Dentin Hypersensitivity (2003). "Consensus-based recommendations for the diagnosis and management of dentin hypersensitivity". Journal of the Canadian Dental Association. 69 (4): 221–226. PMID 12662460.
7. ^ a b c d e Poulsen, Sven; Errboe, Marie; Lescay Mevil, Yamila; Glenny, Anne-Marie (2006). "Potassium containing toothpastes for dentine hypersensitivity". Cochrane Database of Systematic Reviews (3): CD001476. doi:10.1002/14651858.CD001476.pub2. PMC 7028007. PMID 16855970.
8. ^ a b c d e f Petersson, Lars G. (28 December 2012). "The role of fluoride in the preventive management of dentin hypersensitivity and root caries". Clinical Oral Investigations. 17 (S1): 63–71. doi:10.1007/s00784-012-0916-9. PMC 3586140. PMID 23271217.
9. ^ a b c Miglani, Sanjay; Aggarwal, Vivek; Ahuja, Bhoomika (2010). "Dentin hypersensitivity: Recent trends in management". Journal of Conservative Dentistry : JCD. 13 (4): 218–224. doi:10.4103/0972-0707.73385. ISSN 0972-0707. PMC 3010026. PMID 21217949.
10. ^ a b Braennstroem, M.; Astroem, A. (July 1964). "A Study on the Mechanism of Pain Elicited from the Dentin". Journal of Dental Research. 43 (4): 619–625. doi:10.1177/00220345640430041601. ISSN 0022-0345. PMID 14183350. S2CID 43485627.
11. ^ Davari, AR; Ataei, E; Assarzadeh, H (September 2013). "Dentin Hypersensitivity: Etiology, Diagnosis and Treatment; A Literature Review". Journal of Dentistry. 14 (3): 136–145. ISSN 2345-6485. PMC 3927677. PMID 24724135.
12. ^ a b c d e Hargreaves KM, Cohen S (editors), Berman LH (web editor) (2010). Cohen's pathways of the pulp (10th ed.). St. Louis, Mo.: Mosby Elsevier. pp. 510, 521. ISBN 978-0-323-06489-7.CS1 maint: multiple names: authors list (link)
13. ^ a b Schmidlin, Patrick R.; Sahrmann, Phlipp (30 December 2012). "Current management of dentin hypersensitivity". Clinical Oral Investigations. 17 (S1): 55–59. doi:10.1007/s00784-012-0912-0. PMC 3585982. PMID 22350036.
14. ^ a b c "UTCAT3309, Found CAT view, CRITICALLY APPRAISED TOPICs". cats.uthscsa.edu. Retrieved 2020-01-09.
15. ^ a b c d Splieth, Christian H.; Tachou, Aikaterini (March 2013). "Epidemiology of dentin hypersensitivity". Clinical Oral Investigations. 17 (Suppl 1): 3–8. doi:10.1007/s00784-012-0889-8. ISSN 1432-6981. PMC 3585833. PMID 23224064.
16. ^ a b c Gillam, David G (2017-01-02). "A new perspective on dentine hypersensitivity – guidelines for general dental practice". Dental Update. 44 (1): 33–42. doi:10.12968/denu.2017.44.1.33. ISSN 0305-5000. PMID 29172308.
## External links[edit]
Classification
D
* ICD-10: K03.8
* MeSH: D003807
* 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
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* 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
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Dentin hypersensitivity
|
c0011432
| 27,717 |
wikipedia
|
https://en.wikipedia.org/wiki/Dentin_hypersensitivity
| 2021-01-18T18:58:25 |
{"mesh": ["D003807"], "umls": ["C0011432"], "wikidata": ["Q948056"]}
|
For a general phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Clinical Features
Yeetong et al. (2013) reported a large 3-generation Thai family in which 13 individuals had adult-onset cortical tremor, 7 of whom also had generalized seizures. The average age of onset was 19.5 years (range 10-33) for tremor and 25 years (range 19-33) for seizures. Only 1 patient had onset of seizures before tremor. The seizures were well-controlled, and none of the patients had cognitive impairment. Electrophysiologic studies confirmed the cortical origin of the myoclonus in most patients. Among 10 patients with EEG studies, 9 had spike and wave or polyspike and wave discharges, and 7 had multifocal discharges that corresponded with contralateral jerky movement and photosensitivity. Seven patients had increased amplitudes of cortical somatosensory evoked potentials, and all had the C-reflex. Two patients showed premyoclonic cortical discharges detected by jerk-locked back averaging.
Inheritance
The transmission pattern of FAME4 in the family reported by Yeetong et al. (2013) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis and refined mapping in a Thai family with FAME, Yeetong et al. (2013) found linkage to a 10-Mb region on chromosome 3q26.32-q28 between D3S3730 and D3S1580 (maximum 2-point lod score of 5.419 at D3S1262). Linkage to 3 known regions for FAME was excluded.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Involuntary rhythmic myoclonic movements ('tremor'), upper extremities \- Cortical origin of the tremor \- Generalized tonic-clonic seizures (GTCS) (in most patients) \- EEG shows spike and wave or polyspike and wave discharges \- Multifocal discharges associated with contralateral jerky movements \- Photoparoxysmal and photomyoclonic responses \- Cortical reflex myoclonus \- Giant cortical somatosensory evoked potentials (SEPs) \- Enhancement of the C-reflex \- Jerk-locked premyoclonus spikes MISCELLANEOUS \- Young-adult onset \- Onset of tremor usually before onset of seizures \- Nonprogressive course \- Anticonvulsants are effective One family of Thai origin has been reported (last curated March 2013) ▲ 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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
|
c1832841
| 27,718 |
omim
|
https://www.omim.org/entry/615127
| 2019-09-22T15:53:06 |
{"mesh": ["C563399"], "omim": ["601068", "615127"], "orphanet": ["86814"], "synonyms": ["ADCME", "Familial adult myoclonic epilepsy", "Autosomal dominant cortical myoclonus and epilepsy", "FAME", "Benign adult familial myoclonus epilepsy", "FCMTE", "Alternative titles", "CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4", "Familial cortical myoclonic tremor and epilepsy", "BAFME"]}
|
Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van den Ende Gupta syndrome is caused by a SCARF2 gene that is not working correctly. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical examination, imaging studies and confirmed by genetic testing. Treatment is focused on managing the symptoms. Surgery can help correct the underdevelopment of facial features.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Van den Ende Gupta syndrome
|
c1833136
| 27,719 |
gard
|
https://rarediseases.info.nih.gov/diseases/3382/van-den-ende-gupta-syndrome
| 2021-01-18T17:57:11 |
{"mesh": ["C535909"], "omim": ["600920"], "umls": ["C1833136"], "orphanet": ["2460"], "synonyms": ["Marden Walker like syndrome without psychomotor retardation", "VDEGS", "Blepharophimosis, arachnodactyly, and congenital contractures", "Marden-Walker-like syndrome"]}
|
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
|
c3809309
| 27,720 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369867
| 2021-01-23T17:10:46 |
{"omim": ["615376"], "icd-10": ["G60.0"], "synonyms": ["RI-CMT type C"]}
|
## Summary
### Clinical characteristics.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.
### Diagnosis/testing.
The diagnosis of RVCL-S is established in a proband with suggestive findings and a heterozygous pathogenic variant in TREX1 identified by molecular genetic testing.
### Management.
Treatment of manifestations: Retinal vasculopathy may be treated with laser therapy, which may also prevent and slow the progression of visual impairment; macular edema may respond to bevacizumab; ESRD may require renal replacement therapy (including renal transplantation); corticosteroid therapy may be considered for those with cerebral vasogenic edema; standard treatment for glaucoma, hypertension, migraine headaches, seizure disorders, hypothyroidism, anemia, Raynaud phenomenon, and psychiatric disorders.
Surveillance: Ophthalmologic evaluation, blood pressure assessment, renal function tests (serum creatinine, BUN, and urinalysis to include creatinine and protein content), liver function tests (AST, ALT, alkaline phosphatase, GGT, serum albumin), TSH and free T4, and complete blood count annually starting in the fourth decade or as appropriate based on symptoms; annual assessment of cognition and psychiatric manifestations.
Agents/circumstances to avoid: Intravenous tissue-type plasminogen activator therapy for acute ischemic stroke is not warranted, as there is no proof that neurologic manifestations are caused by occluded large blood vessels and the risk of complications is assumed to be higher in affected individuals.
Evaluation of relatives at risk: It is appropriate to evaluate the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual by molecular genetic testing of the TREX1 pathogenic variant in the family in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures.
### Genetic counseling.
RVCL-S is inherited in an autosomal dominant manner. Most individuals diagnosed with RVCL-S have an affected parent. However, disease onset and severity vary considerably even within the same family. The offspring of an individual with RVCL-S are at a 50% risk of inheriting the TREX1 pathogenic variant. If the pathogenic variant in the family is known, prenatal testing for pregnancies at increased risk for RVCL-S and preimplantation genetic testing are possible; however, such testing for adult-onset disorders is uncommon.
## Diagnosis
There are no consensus clinical diagnostic criteria for retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
### Suggestive Findings
RVCL-S should be suspected in individuals with the following findings [Stam et al 2016, Pelzer et al 2019].
Major features
* Vascular retinopathy typically manifesting as decreased visual acuity and/or visual field defects
* Focal and/or global brain dysfunction and brain MRI abnormalities
* Focal neurologic signs can include but are not limited to hemiparesis, facial weakness, aphasia, and hemianopsia.
* Global brain dysfunction may manifest as progressive cognitive impairment.
* Brain MRI abnormalities are restricted to the white matter (see Clinical Characteristics, Neurologic Features).
* Family history of middle-age onset of disease manifestations consistent with an autosomal dominant inheritance pattern
Note: Absence of a known family history of similarly affected individuals does not preclude the diagnosis.
Supportive features
* Calcifications on brain CT scan, typically not present in healthy controls
* Nonspecific MRI white matter lesions that occur more frequently than expected given the age of the individual
* Microvascular liver disease, manifested by modest elevations of alkaline phosphatase and gamma-glutamyltransferase
* Microvascular kidney disease, typically manifested by a mild-to-moderate increase in serum creatinine or by proteinuria
Likely associated features
* Anemia consistent with blood loss and/or chronic disease (typically normocytic and normochromic)
* Microscopic gastrointestinal bleeding
* Hypertension
* Migraine with or without aura
* Raynaud phenomenon (typically mild)
* Subclinical hypothyroidism
### Establishing the Diagnosis
The diagnosis of RVCL-S is established in a proband with suggestive findings and a heterozygous pathogenic variant in TREX1 identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include single-gene testing and use of a multigene panel:
* Single-gene testing. Sequence analysis of TREX1 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 of TREX1.
* A multigene panel that includes TREX1 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 an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
Note: At the Leiden University Medical Center, a panel of genes is used to screen for pathogenic variants that cause cerebral angiopathies and adult-onset leukoencephalopathies. New pathogenic variants that cause these disorders continue to be discovered; click here for more information.
### Table 1.
Molecular Genetic Testing Used in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
View in own window
Gene 1MethodProportion of Probands with a Pathogenic
Variant 2 Detectable by Method
TREX1Sequence analysis 3Estimated >99% 4, 5
Gene-targeted deletion/duplication analysis 6Unknown 7
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\.
The identification of a heterozygous pathogenic variant in TREX1 is required for the diagnosis RVCL-S. The proportion of individuals with suggestive features of RVCL-S who do not have an identifiable heterozygous pathogenic variant in TREX1 has not been systematically studied.
5\.
To date, all pathogenic variants in TREX1 that cause RVCL-S have been frameshift variants in the region encoding the C terminus of the protein.
6\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
7\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
Clinical information about RVCL-S is summarized from the following reports of individuals with molecularly confirmed RVCL-S: Storimans et al [1991], Terwindt et al [1998], Cohn et al [2005], Richards et al [2007], Winkler et al [2008], Mateen et al [2010], Gruver et al [2011], Schuh et al [2014], Dhamija et al [2015], DiFrancesco et al [2015], Stam et al [2016], Vodopivec et al [2016], Carra-Dalliere et al [2017], Hardy et al [2017], and Pelzer et al [2019]. The numerators and denominators in this section are derived from the study by Stam et al [2016], which included 11 affected families and is the largest study to date on RVCL-S.
RVCL-S is a small-vessel disease that systemically affects various highly vascularized organs. Affected individuals develop retinal vasculopathy and neurologic symptoms, in addition to other systemic manifestations including impaired liver and renal function.
Clinical presentation is variable; onset is often between ages 35 and 50 years, with a mean age at clinical diagnosis of 42.9 years (SD ±8.3, range 25-61 years). Life expectancy is decreased; the average age of death is 53.1 years (SD ±9.6, range 32-72). Cause of death is frequently pneumonia or sepsis in the setting of general debilitation. For clinical course see Figure 1.
#### Figure 1.
Clinical course of RVCL-S Adapted from Pelzer et al [2019]
#### Ophthalmologic Features
Symptoms
* Symptoms caused by retinal vasculopathy are the most common presenting finding in individuals with RVCL-S but can also develop later in the disease course.
* Affected individuals often notice decreased visual acuity and/or visual field defects. A gradual worsening often occurs and affected individuals can become legally blind.
Signs
* All individuals with a heterozygous pathogenic variant in TREX1 will develop vascular retinopathy at some point.
* The retinopathy is characterized in the early stages by telangiectasias, microaneurysms, and cotton wool spots.
* In later stages perifoveal capillary obliterations and neovascularizations appear.
* Macular edema and neovascular glaucoma may develop as a complication of vascular retinopathy.
#### Neurologic Features
Symptoms
* Focal neurologic symptoms were reported in 40/72 individuals. These symptoms occurred more frequently in those with retinal vasculopathy and/or brain lesions (40/59). Manifestations include but are not limited to hemiparesis, facial weakness, aphasia, and hemianopsia.
* Cognitive impairment has been described in 32/57 affected individuals with retinal vasculopathy and/or brain lesions. This ratio is higher (21/28) in those with more disease symptoms, implying a progressive decline in cognition. Apathy, irritability, and difficulties with memory and judgment have also been reported.
* Migraine occurred in 24/41 individuals in whom other manifestations of the disease (retinal vasculopathy and/or brain lesions) were present. Of 16 deceased individuals, 12 had a history of migraine at some point in their life; further clinical details are unavailable.
* Seizures occurred in 9/66 affected individuals. Generalized as well as partial sensomotoric seizures have been described.
Signs on neuroimaging. Three types of lesions have been observed frequently on brain MRI scans:
* Focal, non-enhancing T2-hyperintense lesions scattered throughout the periventricular and deep white matter (at an age when nonspecific age-related white matter hyperintensities are infrequent)
* Punctate T2-hyperintense white matter lesions with nodular enhancement
* Hyperintense mass lesions on T2 and hypointense lesions on T1-weighted images, enhanced with gadolinium contrast, and often surrounded by extensive edema. Hemorrhages are rarely reported. Occasionally, restricted diffusion, most often centrally, is observed and is referred to as a "pseudotumor." These lesions:
* Have been reported in 36/51 individuals with a heterozygous pathogenic variant in TREX1, most often in later stages of the disease;
* Are most frequently localized in the frontoparietal lobe but are occasionally found in other regions;
* Often lead to displacement of adjacent structures and sulci effacement;
* Can increase in size, remain stable, or diminish;
* Are associated with calcifications on CT scan.
#### Renal Disease
Renal disease has been demonstrated in 22/44 affected individuals. It is typically characterized by a mild-to-moderate increase in serum creatinine and mild proteinuria but may be severe (stage IV kidney disease) and fatal in some families. While the progression of the renal disease of RVCL-S requires further study, in most cases the renal manifestations are progressive; however, there is tremendous variability in the rate of renal decline.
#### Liver Disease
Liver disease was present in 28/40 affected individuals and usually manifests as mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT).
#### Hypothyroidism
Subclinical hypothyroidism was found to be part of the disease course in a recent cross-sectional study. Of the 19 affected individuals older than age 40 years, seven had subclinical hypothyroidism.
#### Psychiatric Symptoms
Psychiatric manifestations were present in 26/62 affected individuals and may include depression, psychosis, anxiety, and other psychiatric problems.
#### Other
Additional findings may include the following:
* Hypertension (present in 30/52 individuals)
* Mild-to-moderate anemia that is typically normocytic and normochromic
* Microscopic gastrointestinal bleeding resulting in anemia (present in 25/34 affected individuals)
* Raynaud phenomenon, which is typically mild (present in approximately 31/73 individuals with a heterozygous pathogenic variant in TREX1)
* Avascular necrosis of the femoral head (2 individuals)
* (Hypertensive) cardiomyopathy (3 individuals)
* Macular skin rash and punctate skin lesions (3 individuals)
#### Pathology
Histologic abnormalities have been demonstrated in all organs involved in RVCL-S, including the following.
Retina
* Scattered microinfarcts
* Thickened hyalinized retinal arterial walls
* Focal areas of disruption of the ganglion cell layer and inner nuclear layer
Brain
* Multiple – often confluent – foci of ischemic necrosis of white matter
* Vasculopathy: vessel wall thickening and luminal stenosis; telangiectasias
* A modest chronic inflammatory cell infiltrate in some individuals
* Focal calcifications and reactive astrocytosis
* Myelin loss
Kidney
* Renal arteriolosclerosis
* Focal or diffuse glomerulosclerosis
Liver
* Nodular regenerative hyperplasia
* Micro- and macrovesicular steatosis
* Periportal inflammation
* Bridging and portal fibrosis
### Genotype-Phenotype Correlations
To date, all pathogenic variants have been frameshift variants in the region of TREX1 encoding the carboxyl terminus of TREX1 (see Molecular Genetics).
To date no genotype-phenotype correlations have been observed.
### Penetrance
Penetrance of RVCL-S is age dependent; however, it is thought that all individuals with a heterozygous pathogenic TREX1 variant will develop features of this condition if they live long enough.
### Nomenclature
Previous descriptions of families with cerebroretinal vasculopathy (CRV); hereditary vascular retinopathy (HRV); hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); hereditary systemic angiopathy (HSA); and retinal vasculopathy with cerebral leukodystrophy (RVCL) represent early reports of RVCL-S.
### Prevalence
Currently, fewer than 25 families with RVCL-S are known. However, RVCL-S is most likely underdiagnosed because physicians are generally unfamiliar with the disorder. For example, in the Netherlands alone three unrelated families have been identified because of increased awareness of this condition. The widespread availability of exome and genome sequencing techniques likely also contribute to increased recognition of RVCL-S.
## Differential Diagnosis
Due to the systemic nature of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S), the differential diagnosis is quite broad. Following are differential diagnoses specifically for the characteristic brain findings and vascular retinopathy seen in RVCL-S. For other inherited disorders with phenotypic similarities see Table 3.
### Focal and/or Global Brain Dysfunction / MRI Brain Abnormalities
Focal and/or global brain dysfunction and MRI brain abnormalities (intracerebral mass lesions and white matter abnormalities) seen in RVCL-S can be similar to intracranial neoplasm, multiple sclerosis, multi-infarct dementia, and central nervous system vasculitis. In these disorders other organs are usually not affected. Moreover, these conditions do not typically follow an autosomal dominant inheritance pattern.
* In sarcoidosis and systemic lupus erythematosus (SLE) (see Table 3) there can be focal and/or global brain dysfunction as well as involvement of multiple organs, as is seen in RVCL-S.
* With sarcoidosis, however, there is frequent involvement of the lungs and skin. No lesions in the lungs have been described in individuals with RVCL-S and skin lesions are not frequently reported [Hardy et al 2017].
### Vascular Retinopathy
Vascular retinopathy can occur as a long-term complication of diabetes mellitus and hypertension:
* As the vascular retinopathy in RVCL-S is usually observed at a relatively young age (retinopathy has been found in the third decade of life) it is unlikely to be a complication of hypertension or diabetes mellitus, even in those with RVCL-S who have co-occurrence of hypertension or diabetes.
* Vascular retinopathy can also be caused by systemic lupus erythematosus, sarcoidosis, and ophthalmologic infections (which are outside of the scope of this GeneReview).
* In Susac syndrome, vascular retinopathy and encephalopathy are part of the symptomatology, as is hearing loss, but hearing loss is very rare in RVCL-S. The pattern of white matter lesions seen on MRI may also help to distinguish the two conditions.
### Table 3.
Inherited Disorders to Consider in the Differential Diagnosis of RVCL-S
View in own window
Differential
Diagnosis
DisorderGene(s)MOIClinical Features of the Differential Diagnosis Disorder
Overlapping w/RVCL-SDistinguishing from RVCL-S
CADASILNOTCH3AD
* Focal neurologic symptoms
* Progressive cognitive decline
* Migraine
* Mood disturbances
* Apathy
* White matter lesions on brain imaging
* Positive family history
* Clinical involvement limited to the brain
* The pattern of white matter lesions on brain imaging differs from that in RVCL-S.
CARASALCTSAAD
* Ischemic stroke
* Progressive cognitive decline
* Extended white matter lesions on brain imaging
* Hypertension
Hemorrhagic strokes occur frequently in CARASAL.
CARASILHTRA1AR
* Stepwise deterioration in brain functions
* Progressive cognitive decline
* Extended white matter lesions on brain imaging
* Positive family history
* Spasticity in lower extremities, spondylosis deformans & alopecia
* AR inheritance
Fabry diseaseGLAXL
* Focal neurologic complaints
* Nephropathy
* Positive family history
* Angiokeratomas, hypohidrosis, & corneal opacity
* Onset usually in childhood or adolescence
* XL inheritance; heterozygous females can be asymptomatic w/normal life span.
Neurofibromatosis 1NF1AD
* Focal neurologic symptoms w/mass lesions on brain imaging
* Seizures
* Migraine
* Positive family history
* Café au lait macules, neurofibroma, plexiform neurofibroma, freckling in axillary or inguinal regions, optic glioma, Lisch noduli, & distinctive osseous lesions
* Pattern of lesions on brain imaging differs from that seen in RVCL-S.
Systemic lupus erythematosus
(OMIM 152700)CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
TREX1AD 1
* Nephropathy
* Anemia
* Retinopathy
* Mood disorders
* Cognitive complaints
* Seizures
* Liver disease
* Often no genetic pathogenic variant found
* Features of vasculitis can occur, specifically cutaneous abnormalities, oral or nasal ulcers, alopecia, & arthritis.
* Often associated w/↑ ANAs, anti-dsDNA; anti-Smith antibodies &/or antiphospholipid antibodies (anticardiolipin immunoglobin or lupus anticoagulant)
Tuberous sclerosis complexTSC1
TSC2AD
* Multisystem disorder involving brain, kidney, & eye
* Focal neurologic symptoms
* Seizures
* Mass lesions on brain imaging
* Positive family history
* Formation of hamartomas & skin& lung lesions
* Many patients are diagnosed as children, but it is not uncommon for adults to be diagnosed.
AD = autosomal dominant; ANAs = antinuclear antibodies; AR = autosomal recessive; CADASIL = cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL = cathepsin A–related arteriopathy with strokes and leukoencephalopathy; CARASIL = cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; dsDNA = double-stranded DNA; MOI = mode of inheritance; XL = X-linked
1\.
Most frequently, no genetic cause is identified.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with RVCL-S
View in own window
System/ConcernEvaluationComment
EyesOphthalmologic evaluationAssess for signs of retinopathy, macular edema, & glaucoma.
CardiovascularBlood pressureAssess for hypertension.
RenalRenal function tests 1Consider referral to nephrologist for those w/significant renal insufficiency &/or hypertension.
Hepatology
* Liver enzymes 2 & serum albumin
* Consideration of serum lactate dehydrogenase levels, coagulation studies, & bilirubin concentration
Consider referral to gastroenterologist for those w/significantly altered liver enzymes or ↓ liver function.
NeurologicAssess cognitive function.Consider referral to neurologist &/or a neuropsychological evaluation.
Assess for signs & symptoms of migraines.Consider referral to neurologist.
EEG if seizures are suspected
Assess for focal neurologic complaints.Refer to neurologist, if present.
EndocrinologicThyroid function 3Refer to endocrinologist, if clinically significant
HematologicComplete blood countTo assess for anemia; consider referral to gastroenterologist for possible occult GI bleeding.
RheumatologicAssess for signs & symptoms of Raynaud phenomenon.
PsychiatricAssess for psychiatric symptoms. 4Consider psychiatric consultation.
OtherConsultation w/clinical geneticist &/or genetic counselor
1\.
Serum creatinine, BUN, and urinalysis (to include creatinine and protein content)
2\.
Aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase, gamma-glutamyltransferase (GGT)
3\.
TSH and free T4
4\.
Findings may include depression, psychosis, anxiety, or other psychiatric diagnoses.
It is crucial that unnecessary diagnostic tests not be undertaken. Biopsies of the brain, kidney, or liver are not required in individuals with RVCL-S and do not appear to provide additional prognostic or treatment information.
### Treatment of Manifestations
Table 5 summarizes treatment for the manifestations of an individual diagnosed with RVCL-S.
### Table 5.
Treatment of Manifestations in Individuals with Retinal Vasculopathy with RVCL-S
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Visual impairmentRetinal laser therapyCan prevent & slow down progression of retinal involvement that causes visual impairment
Macular edemaBevacizumab
Elevated eye pressure /
GlaucomaStandard treatment
HypertensionStandard treatmentMay prevent further damage to involved organs
Renal insufficiencyStandard treatment of hypertensionRefer to nephrologist.
Renal replacement therapy (incl transplantation) may be considered in severe cases for those w/end-stage renal disease.
Liver function abnormalitiesThere is no treatment for liver function abnormalities.Monitor to prevent complications associated w/liver fibrosis & to exclude other causes. 1
Cerebral vascular
edemaConsider corticosteroid therapy. 2May reduce cerebral vasogenic edema but does not appear to treat the underlying lesion
MigraineStandard treatment
Seizure disorderStandard treatment w/antiepileptic drugsRefer to neurologist.
HypothyroidismThyroid replacement therapy
AnemiaStandard treatmentIntravenous iron therapy (& in rare cases blood transfusion) may be necessary.
Raynaud phenomenonStandard treatment
Psychiatric concernsStandard treatmentRefer to psychiatrist or neuropsychologist.
1\.
When not properly monitored, affected individuals are frequently given incorrect diagnoses and often receive advice to stop drinking alcohol or stop their medication, while this is not required.
2\.
Intravenous methylprednisolone followed by an oral corticosteroid treatment
### Surveillance
There are currently no consensus guidelines for monitoring individuals with RVCL-S. However, close monitoring is recommended. The frequency of monitoring depends on the manifestations and rate of disease progression (see Table 6).
### Table 6.
Recommended Surveillance for Individuals with RVCL-S
View in own window
System/ConcernEvaluationFrequency (Minimum)
EyesOphthalmologic evaluationAnnually starting in 4th decade or as appropriate based on symptoms
CardiovascularBlood pressure evaluation
RenalRenal function tests 1
EndocrinologicTSH and free T4
HematologicComplete blood count
HepatologyLiver enzymes 2 & serum albuminAnnually starting in the 4th decade
NeurologicAssessment of cognitionAnnually or as appropriate based on symptoms starting after diagnosis
PsychiatricAssessment for psychiatric symptoms
1\.
Serum creatinine, BUN, and urinalysis (to include creatinine and protein content)
2\.
Aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase, gamma-glutamyltransferase (GGT)
### Agents/Circumstances to Avoid
Although there is no evidence, the authors would advise against intravenous tissue-type plasminogen activator (IV tPA) for acute ischemic stroke. There is to date no proof that the neurologic manifestations are caused by occluded large blood vessels (RVCL-S is a small vessel disease), and the risk of complications of such treatment (e.g., a secondary hemorrhage) is assumed to be higher in affected individuals.
### Evaluation of Relatives at Risk
It is appropriate to evaluate the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual by molecular genetic testing of the TREX1 pathogenic variant in the family in order to identify as early as possible those who would benefit from prompt initiation of treatment that could benefit eyesight and prevent secondary damage due to hypertension. Furthermore, clarification of the genetic status of at-risk relatives could prevent unnecessary diagnostic tests (e.g., liver/kidney/brain biopsies).
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Currently, a pilot study for treating RVCL-S with aclarubicin has been started. For details, see ClinicalTrials NCT02723448.
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 inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
|
c0035309
| 27,721 |
gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK546576/
| 2021-01-18T21:00:13 |
{"mesh": ["D012164"], "synonyms": ["Cerebroretinal Vasculopathy (CRV); Hereditary Endotheliopathy", "Retinopathy", "Nephropathy", "and Stroke (HERNS); Hereditary Systemic Angiopathy (HSA); Hereditary Vascular Retinopathy (HVR); Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL); RVCL-S"]}
|
Chelonitoxism or chelonitoxication is a type of food poisoning which occasionally results from eating turtles, particularly, marine turtles, in the region of the Atlantic, Pacific and Indian Oceans.[1][2] It is considered rare.[3]
Four species of marine turtle have been associated with Chelonitoxism: hawksbill turtle (Eremochelys imbricata), green sea turtle (Chelonia mydas), loggerhead sea turtle (Caretta caretta gigas), leatherback sea turtle (Dermochelys coriacea), plus the freshwater species New Guinea giant softshell turtle (Pelochelys bibroni). Consumption of these species has caused poisoning incidents at various times of year in various tropical and subtropical locations, including such places as Southeast Asia, Indonesia, the Philippines and New Guinea, as well as southern South Asia (Gulf of Mannar). This last region has recorded 89 deaths from (primarily hawksbill and green) sea turtle poisoning from 1840 to 1983, mainly in Tamil Nadu and northern and western Sri Lanka.[2]
Chelonitoxism can be deadly, and supportive treatment is the only treatment available; there is no known antidote.[4][5] Sea turtle is a traditional food in the region of the Western Pacific and Indian Oceans.[2] Symptoms of chelonitoxism begin to show up within hours to a week following ingestion of turtle meat which has not been repeatedly parboiled.[2] Children are especially susceptible, and the toxins have been reported to transfer readily via breastfeeding, even when the mother experiences no illness.[1][2]
Digestive system signs include nausea, vomiting, diarrhea, abdominal pain, dysphagia, tongue abnormalities and a firm, nontender liver . Autopsies have revealed hemorrhage in liver, esophagus and stomach, with mucosal edema of the esophagus, stomach and intestines. Fatty changes and necrosis of the liver were present. Other organs found to be abnormal on autopsy include swollen gall bladder, congested kidneys and enlarged spleen.[2]
Cardiovascular signs include variable slight tachycardia and a moderate drop in systolic blood pressure, pallor and, on autopsy, a flabby heart with hemorrhagic petechiae. Neurological signs include increased salivation, sweating, vertigo, lethargy and diminished deep reflexes, sometimes followed by coma and death. Death was found to result from respiratory failure. On autopsy, cerebral cortical edema was found, along with hemorrhagic petechiae.[2] Low fever, thirst, constipation and spontaneous abortion have also been reported, while typical signs of allergic reaction are absent. A full recovery can take weeks, and it is not known whether any aftereffects are permanent. While standard hospital toxicology screens detected no known toxins, stomach contents of hospitalized patients fed to small laboratory animals killed the animals. It has been speculated by Silas and Bastian that chelonitoxism may involve a neurotoxin.[2]
Research on the biochemistry of both poisonous turtle tissues and tissues of turtle poisoning patients is scant, and local medical practitioners have minimal treatment protocols for chelonitoxism at their disposal.[2]Currently, with loggerheads (and other turtles under pressure from hunting) under legal protection against hunting, researchers hope that programs to discourage turtle consumption on health grounds may both increase turtle numbers and prevent human morbidity and mortality.[2]
## References[edit]
1. ^ a b Multiple fatalities following ingestion of sea turtle meat Archived 2014-04-13 at the Wayback Machine NACCT Congress – September 23–26, 2011 Washington DC POSTER SESSION III 169
2. ^ a b c d e f g h i j Silas, E. G; Fernando, A. Bastian (1984). "Turtle poisoning" (PDF). Central Marine Fisheries Research Institute (CMFRI) Bulletin. Retrieved 6 December 2020.
3. ^ Fussy, Agnès; Pommier, Philip; Lumbroso, Catherine; De Haro, Luc (2007). "Chelonitoxism: New case reports in French Polynesia and review of the literature". Toxicon. 49 (6): 827–32. doi:10.1016/j.toxicon.2006.12.002. PMID 17250862.
4. ^ Chelontoxism Food Safety Net
5. ^ Pacific Islanders die after feasting on poisonous turtle meat Telegraph
* v
* t
* e
Turtle terminology
* Carapace
* Chelonitoxism
* Fibropapillomatosis
* Gular scute
* Jackson ratio
* Plastron
* Pyramiding
* Shell
* Tortoiseshell
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Chelonitoxism
|
None
| 27,722 |
wikipedia
|
https://en.wikipedia.org/wiki/Chelonitoxism
| 2021-01-18T19:02:00 |
{"wikidata": ["Q16466674"]}
|
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
## Epidemiology
More than 300 patients have been reported worldwide. Prevalence is estimated to be approximately 1/50,000 among Caucasians.
## Clinical description
The initial clinical manifestation may be neonatal cholestasis or chronic diarrhea from infancy. In 75% of cases, cataract is the first finding, often appearing in childhood. Infants may present with cholestasis and liver dysfunction. Xanthomata may appear in the 2nd or 3rd decade of life, in the Achilles and other tendons (elbow, hand, patella, neck). Some patients show intellectual impairment from infancy, but most have normal or subnormal intellectual function until puberty. Adult-onset progressive neurologic dysfunction includes dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, seizures, and neuropathy. Dementia occurs in the 20s in over 50% of cases. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicidal tendencies may be prominent. Pyramidal signs and/or cerebellar ataxia are present in the 20s or 30s. Patients may experience extrapyramidal manifestations (dystonia and atypical parkinsonism), and peripheral neuropathy.
## Etiology
CTX is caused by mutations in the sterol 27-hydroxylase gene (CYP27A1; 2q33-qter). Sterol 27-hydroxylase catalyzes the first step in the oxidation of the side-chain of sterol intermediates in the bile acid synthesis (BAS) pathway. Defective enzymatic function disrupts bile acid synthesis leading to cholesterol and cholestanol deposits, which result in a degenerative process.
## Diagnostic methods
Mass spectrometry analysis of urine enables early diagnosis in children by showing characteristic bile alcohol metabolites. Diagnosis in adults is based on two of the following criteria: intractable diarrhea, presenile cataracts, tendinous xanthomata and neurologic abnormalities, and abnormal amounts of cholestanol in serum and tendons. Plasma cholesterol concentration may be low or normal. MRI shows bilateral hyperintensity of the dentate nuclei and cerebral and cerebellar white matter. Molecular genetic testing in a certified laboratory may be used to confirm the diagnosis.
## Differential diagnosis
Differential diagnoses include other causes of xanthomata such as sitosterolemia and hyperlipemia (especially type IIa, also known as familial hypercholesterolemia [see these terms]), and for infants presenting with cholestasis, all other causes of neonatal cholestasis.
## Antenatal diagnosis
Antenatal diagnosis can be established by analysis of embryonic tissue when there has been a previously identified sibling.
## Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to affected families.
## Management and treatment
First-line treatment is based on chenodeoxycholic acid (CDCA) replacement therapy, which normalizes BAS and cholestanol concentrations, and improves neurological symptoms. Inhibitors of HMG-CoA reductase may also be used alone or in combination with CDCA, although they may induce muscle damage. Cataract extraction is typically required by age 50 years. Cholic acid treatment has also been used. It is not as effective as CDCA in suppressing BAS and the production of cholestanol, but lacks the hepatotoxicity of CDCA.
## Prognosis
Early diagnosis and treatment are crucial to prevent progressive accumulation of cholestanol and cholesterol: disease progression may be halted and in some cases reversed. Treated patients may have a normal lifespan. In untreated patients, life expectancy is 50 to 60 years. Some early deaths in infancy have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Cerebrotendinous xanthomatosis
|
c0238052
| 27,723 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=909
| 2021-01-23T18:17:17 |
{"gard": ["5622"], "mesh": ["D019294"], "omim": ["213700"], "umls": ["C0238052"], "icd-10": ["E75.5"], "synonyms": ["CTX", "Sterol 27-hydroxylase deficiency"]}
|
Skin fold of the upper eyelid
"Mongoloid fold" redirects here. For other uses, see Mongoloid (disambiguation).
Epicanthic fold
A South Korean person with the skin fold of the upper eyelid covering the inner angle of the eye
Details
SynonymsEpicanthal fold, epicanthus, eye fold,[2] Mongoloid fold,[3] palpebronasal fold[4]
Pronunciation/ˌɛpɪˌkænθɪk ˈfoʊld/[5]
Identifiers
LatinPlica palpebronasalis[1]
TA98A15.2.07.028
TA2211
FMA59370
Anatomical terminology
[edit on Wikidata]
An epicanthic fold or epicanthus[6] is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye.[3] However, variation occurs in the nature of this feature and the possession of 'partial epicanthic folds' or 'slight epicanthic folds' is noted in the relevant literature.[7][8][9] Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions.
## Contents
* 1 Etymology
* 2 Classification
* 3 Ethnogeographic distribution
* 3.1 High-frequency populations
* 3.2 Lower-frequency populations
* 3.3 Perception and attribution
* 4 Possible evolutionary function
* 5 Other factors
* 5.1 Age
* 5.2 Medical conditions
* 6 See also
* 7 References
* 8 External links
## Etymology[edit]
Epicanthus means 'above the canthus' with canthus being the Latinized form of the Ancient Greek κανθός : kanthós, 'corner of the eye'.
## Classification[edit]
Variation in the shape of the epicanthic fold has led to four types being recognised:
* Epicanthus supraciliaris runs from the brow, curving downwards towards the lachrymal sac.
* Epicanthus palpebralis begins above the upper tarsus and extends to the inferior orbital rim.
* Epicanthus tarsalis originates at the upper eyelid crease and merges into the skin near the medial canthus. This is the type most often found in East Asians.
* Epicanthus inversus runs from the lower eyelid skin over the medial canthus and extends to the upper lid.[10]
## Ethnogeographic distribution[edit]
### High-frequency populations[edit]
Uighur girl, Central Asian, with the trait.
The highest frequency of occurrence of epicanthic folds is found in specific ethnicities: East Asians, Southeast Asians, Central Asians, North Asians, Polynesians, Micronesians, Native Americans, Mestizos, the Khoisan, and the Malagasy. Among South Asians, they occur at very high frequencies among the Bhutanese,[11] Northeast Indians,[11] Kirati, and certain Adivasi[11] tribes of eastern India.
In some of these populations the trait is almost universal, specifically in East Asians and Southeast Asians, where a majority, up to 90% in some estimations, of adults have this feature.[12]
### Lower-frequency populations[edit]
A Swedish Sami,[13][14] Jens Byggmark, with partial epicanthic folds.
Epicanthic folds also occur, at a considerably lower frequency, in other populations: Europeans (e.g., Scandinavians, English, Irish,[15] Hungarians, Russians, Poles, Lithuanians, Latvians, Finns, Estonians and Samis),[16][17] South Asians (Sinhalese,[18] Bengalis[11] among other groups in eastern South Asia),[11] Nilotes, Cushites and Amazigh people.[19]
### Perception and attribution[edit]
The degree of development of the fold between individuals varies greatly, and attribution of its presence or absence is often subjective, being to a degree relative to the occurrence of the trait within the community of the specific observer. Also, its frequency varies clinally across Eurasia. Its use, therefore, as a phenotypic marker to define biological populations is debatable.[20]
## Possible evolutionary function[edit]
The epicanthic fold is often associated with greater levels of fat deposition around the eyeball, a feature most accentuated in native North Siberian, Aleut and Inuit populations. The adipose tissue is thought to provide greater insulation for the eye and sinuses from the effects of cold, especially from freezing winds, and to represent an adaptation to cold climates. It has also been postulated that the fold itself may provide a level of protection from snow blindness. Though its appearance in peoples of Southeast Asia can be linked to possible descent from cold-adapted ancestors, its occurrence in various African peoples precludes a cold-adaptive explanation for it appearing in the latter groups. The epicanthic fold found in some African people has been tentatively linked to protection for the eye from the high levels of ultraviolet light found in desert and semi-desert areas.[21]
## Other factors[edit]
### Age[edit]
Many fetuses lose their epicanthic folds after three to six months of gestation.[22] Epicanthic folds may be visible in the development stages of young children of any ethnicity, especially before the nose bridge fully develops.[23]
### Medical conditions[edit]
Epicanthic fold prevalence can sometimes be found as a sign of congenital abnormality, such as in Turner syndrome and Zellweger syndrome. Medical conditions that cause the nasal bridge not to develop and project are also associated with epicanthic fold. About 60% of individuals with Down syndrome (also known as trisomy 21) have prominent epicanthic folds.[24][25] In 1862, John Langdon Down classified what is now called Down syndrome. He used the term mongoloid for the condition. This was derived from then-prevailing ethnic theory[26] and from his perception that children with Down syndrome shared physical facial similarities (epicanthic folds) with those of Blumenbach's Mongolian race. While the term "mongoloid" (also "mongol" or "mongoloid idiot") continued to be used until the early 1970s, it is now considered pejorative and inaccurate and is no longer in common use since the 1970s about such medical conditions.[27] In Zellweger syndrome, epicanthic folds are also prominent.[28] Other examples are fetal alcohol syndrome, phenylketonuria, and Turner syndrome.[29]
## See also[edit]
* Blepharitis
* Epicanthoplasty, the surgical modification of epicanthic folds
* Human physical appearance
* Mongoloid
## References[edit]
1. ^ "AllRefer Health - Epicanthal Folds (Plica Palpebronasalis)". AllRefer.com. Archived from the original on 12 January 2010. Retrieved 1 October 2009.
2. ^ "Eye fold".
3. ^ a b Das, Ram Narayan (1997). Sterling Dictionary of Anthropology. Sterling. ISBN 9788173590689.
4. ^ "Palpebronasal Fold - Medical Dictionary Search". Stedman's Medical Dictionary. 2006. Retrieved 1 October 2009.
5. ^ Wells, John (3 April 2008). Longman Pronunciation Dictionary (3rd ed.). Pearson Longman. ISBN 978-1-4058-8118-0.
6. ^ https://medical-dictionary.thefreedictionary.com/epicanthus. Retrieved 21 July 2020. Missing or empty `|title=` (help)
7. ^ Powell, M. L. (1981) Assessment and management of developmental changes and problems in children, Mosby, Incorporated, p. 38 ISBN 9780801615207
8. ^ U. Schilbach, U. and Rott, H-D. (1988) Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias: A New Autosomal Dominant Syndrome, American Journal of Medical Genetics 31:863-870
9. ^ Lang, Berel (ed.) (2000) Race and Racism in Theory and Practice, Rowman & Littlefield, p. 10
10. ^ Nguyen, M.Q., Hsu, P.W. and Dinh, T.A. (2009) Asian Blepharoplasty, Semin Plast Surg. 2009 Aug; 23(3), pp. 185–197 doi: 10.1055/s-0029-1224798, p. 189
11. ^ a b c d e Coon, Carleton Stevens; Hunt, Edward E. (21 April 1966). "The Living Races of Man". Cape – via Google Books.
12. ^ Lee, Y., Lee, E. and, Park, W.J. (2000) Anchor epicanthoplasty combined with outfold type double eyelidplasty for Asians: do we have to make an additional scar to correct the Asian epicanthal fold? Plast. Reconstr. Surg. 105:1872–1880
13. ^ http://www.samer.se/2063?template=print_artikel
14. ^ http://www.samer.se/5031
15. ^ "Q&A". The New York Times. 8 October 1985. ISSN 0362-4331. Retrieved 12 November 2016.
16. ^ "epicanthic fold (anatomy)". Encyclopædia Britannica. Retrieved 25 April 2014.
17. ^ Montagu, A. (1989). Growing Young (2nd ed.). Granby, Mass: Bergin & Garvey. ISBN 978-0-89789-166-0.
18. ^ Angel, J. Lawrence (1963). ": The Physical Anthropology of Ceylon. Howard W. Stoudt". American Anthropologist. 65 (3): 694–695. doi:10.1525/aa.1963.65.3.02a00260.
19. ^ Hassan, M. M. (September 1962). "Mongolism in Sudanese children". Journal of Tropical Pediatrics. 8 (2): 48–50. doi:10.1093/oxfordjournals.tropej.a057626. PMID 13905256.
20. ^ Lang, Berel (ed.) (2000) Race and Racism in Theory and Practice, Rowman & Littlefield, p. 10
21. ^ Lang, Berel (ed.) (2000) Race and Racism in Theory and Practice, Rowman & Littlefield, pp. 10-11
22. ^ Park JI (1 January 2000). "Modified Z-Epicanthoplasty in the Asian Eyelid". Archives of Facial Plastic Surgery. 2 (1): 43–47. doi:10.1001/archfaci.2.1.43. ISSN 1521-2491.
23. ^ https://medlineplus.gov/ency/article/003030.htm U.S National Library of Medicine
24. ^ Hammer, edited by Stephen J. McPhee, Gary D. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of disease : an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0.CS1 maint: extra text: authors list (link)
25. ^ Pham, V. (2010). COMMON OTOLARYNGOLOGICAL CONGENITAL ABNORMALITIES. UTMB, Dept. of Otolaryngology. [1] Archived 6 October 2011 at the Wayback Machine
26. ^ Conor, WO (1999). "John Langdon Down: The Man and the Message". Down Syndrome Research and Practice. 6 (1): 19–24. doi:10.3104/perspectives.94. PMID 10890244.
27. ^ Howard-Jones, Norman (1979). "On the diagnostic term "Down's disease"". Medical History. 23 (1): 102–04. doi:10.1017/s0025727300051048. PMC 1082401. PMID 153994.
28. ^ Kalyanasundaram, S.; et al. (2010). "Peroxisomal Disorder-Unusual Presentation as Failure to Thrive in Early Infancy". Indian Journal of Pediatrics. 77 (10): 1151–1152. doi:10.1007/s12098-010-0199-6. PMID 20872098.
29. ^ Kaneshiro, Neil K.; Zieve, David; Ogilvie, Isla. "Epicanthal folds". MedlinePlus.
## External links[edit]
* Media related to Epicanthic fold at Wikimedia Commons
* v
* t
* e
The orbit of the eye
Bones
* Frontal bone
* Zygomatic bone
* Maxillary bone
* Sphenoid bone
* Ethmoid bone
* Palatine bone
* Lacrimal bone
Muscles
* Superior rectus muscle
* Inferior rectus muscle
* Lateral rectus muscle
* Medial rectus muscle
* Superior oblique muscle
* Trochlea of superior oblique
* Inferior oblique muscle
Eyelid
* Levator palpebrae superioris muscle
* Tarsus
* Medial palpebral ligament
* Epicanthic fold
* Meibomian gland
* Ciliary glands
* Eyelash
* Palpebral fissure
* Canthus
* Gland of Zeis
Lacrimal apparatus
* Lacrimal canaliculi
* Lacrimal caruncle
* Lacrimal gland
* Accessory lacrimal glands
* Krause's glands
* Ciaccio's glands
* Lacrimal lake
* Lacrimal papilla
* Lacrimal punctum
* Lacrimal sac
* Nasolacrimal duct
Other
* Eyebrow
* Unibrow
* Conjunctiva
* Plica semilunaris
* Orbital septum
* Periorbita
* Suspensory ligament of eyeball
* Tenon's capsule
Authority control
* TA98: A15.2.07.028
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Epicanthic fold
|
None
| 27,724 |
wikipedia
|
https://en.wikipedia.org/wiki/Epicanthic_fold
| 2021-01-18T19:01:44 |
{"orphanet": ["98573"], "wikidata": ["Q1135825"]}
|
A number sign (#) is used with this entry because some cases of short stature are associated with variations in the pseudoautosomal genes SHOX (312865) or SHOXY (400020).
Mutations in the SHOX gene also cause Leri-Weill dyschondrosteosis (127300) and Langer mesomelic dysplasia (249700). In addition, haploinsufficiency of the SHOX gene is associated with short stature in Turner syndrome.
Description
Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997).
For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255).
Clinical Management
Blum et al. (2007) determined the efficacy of growth hormone (GH; 139250) in treating short stature associated with SHOX gene deficiency (SHOX-D). This large, randomized, multicenter clinical trial in subjects with SHOX-D showed marked, significant, GH-stimulated increases in height velocity and height SDS during the 2-year study period. The efficacy of GH treatment in subjects with SHOX-D was equivalent to that seen in subjects with Turner syndrome. The authors concluded that GH is effective in improving the linear growth of patients with various forms of SHOX-D.
Mapping
Ballabio et al. (1989) did an extensive study of 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The patients had various syndromes as isolated entities or associated in various combinations as contiguous gene syndromes. The use of cDNA and genomic probes from the Xpter-p22 region allowed Ballabio et al. (1989) to identify 12 different deletion intervals. A putative pseudoautosomal gene affecting height was assigned to the pseudoautosomal region (PAR) of Xp, distal to surface antigen MIC2 (313470). One of their patients had the XXY chromosome constitution of Kallmann syndrome (308700), associated with an X/Y translocation and a presumed deletion in PAR of both Xp and Yp. Rather than the usual increase in height of Kallmann syndrome, the patient was 155 cm tall. Furthermore, both affected males and heterozygous females with terminal deletions of Xp displayed short stature. Ballabio et al. (1989) suggested that these observations confirmed those of Zuffardi et al. (1982), who noted short stature in patients with terminal deletions of the X and Y chromosomes.
Pointing out that short stature is consistently found in persons with terminal deletions of Xp, Henke et al. (1991) attempted to refine a localization of the putative locus affecting height by analysis of 2 patients with partial monosomy of the pseudoautosomal region at the molecular level. Of 8 pseudoautosomal probes used, 3 were new markers positioned on the pseudoautosomal map by pulsed field gel electrophoresis. Their findings suggested that a locus affecting height maps within a region of about 1.5 Mb distal to the DXS406 locus and proximal to the DXS405 locus, a region that contains 2 CpG islands. Ogata et al. (1992) described a Japanese girl with short stature and a terminal deletion of Xp distal to DXYS15. Their findings supported the mapping of 1 or more growth genes to the PAR. Cytogenetic studies showed that the rearranged X chromosome was formed by breakage at Xq26 and the transfer of the Xq fragment onto the tip of Xp. The abnormal X was always late replicating. Since the abnormal X chromosome was missing only about 700 kb of DNA from the PAR distal to DXYS15, Ogata et al. (1992) proposed that the growth gene was present in that region, where it can be assumed to escape inactivation and exert a dosage effect. Ogata et al. (1992) also described a Japanese boy and his mother with an interstitial deletion in Xp22.3 and reviewed the correlation between genotype and stature in 6 cases of partial monosomy of the PAR. The results indicated that the region from DXYS20 to DXYS15 is a critical region for the putative growth gene(s). Ogata et al. (1995) described a girl with isolated short stature and an inverted duplication of Xp21.3-p22.33. Molecular studies showed deletion of the PAR distal to DXYS15.
By fluorescence in situ hybridization studies of 4 patients with X-chromosomal rearrangements, 2 with normal height and 2 with short stature, Rao et al. (1997) narrowed the critical 'short stature interval' to a 270-kb region within PAR1.
Deng et al. (2002) performed genomewide linkage analysis on a sample of 53 pedigrees containing 1,249 sib pairs, 1,098 grandparent-grandchildren pairs, 1,993 avuncular pairs, and 1,172 first-cousin pairs. The study suggested several genomic regions linked with variation in height, including Xp22 at the marker DXS1060 (2-point lod score of 1.95). Deng et al. (2002) observed that the SHOX gene, which had been related to idiopathic familial short stature, was located in the Xp22 region.
Molecular Genetics
Rao et al. (1997) identified a 170-kb DNA interval within the PAR1 that was deleted in 36 individuals with short stature and different rearrangements on Xp22 or Yp11.3. This deletion was not detected in any of the relatives with normal stature or in a further 30 individuals with rearrangements on Xp22 or Yp11.3 with normal height. The authors identified and isolated the SHOX gene within this region. In 1 of 91 individuals with idiopathic short stature, Rao et al. (1997) identified a functionally significant mutation in the SHOX gene (312865.0001).
Shanske et al. (1999) found a Y;13 translocation in a 10-year-old boy with idiopathic short stature. Southern blot analysis using cDNA probes indicated that most of the pseudoautosomal region, including the SHOX gene, was lost as a result of the translocation. They concluded that haploinsufficiency for this gene was responsible for the growth failure in the patient. Treatment with recombinant growth hormone resulted in greatly improved growth velocity.
Rappold et al. (2002) investigated the incidence and type of SHOX mutations in 900 patients with short stature. All patients had a normal karyotype, and their heights for chronologic age were below the 3rd percentile or -2 SD of national height standards. All were without obvious skeletal features reminiscent of Leri-Weill syndrome at the time of diagnosis. Silent, missense, and nonsense mutations and a small deletion in the coding region of SHOX were identified in 9 of the 750 patients analyzed for intragenic mutations. Complete gene deletions were detected in 3 of the 150 patients studied for gene deletions. At least 3 of the 9 intragenic mutations were judged to be functional based upon the genotype-phenotype relationship for the parents and normal control individuals. The authors concluded that 2.4% of children with short stature have SHOX mutations and that the spectrum of mutations is biased, with the vast majority leading to complete gene deletions.
Morizio et al. (2003) identified deletion of the SHOX gene in 4 (7.1%) of 56 patients with idiopathic short stature. None of the patients had skeletal abnormalities.
In a study of 140 children with idiopathic short stature, Binder et al. (2003) sought to determine the prevalence of SHOX mutations and to give an unbiased characterization of the haploinsufficiency phenotype of such children. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in 3 probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxologic data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the 3 SHOX haploinsufficient probands in comparison with the whole group. All children with SHOX haploinsufficiency exhibited at least 1 characteristic radiologic sign of Leri-Weill dyschondrosteosis in their left-hand radiography, namely, triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Binder et al. (2003) concluded that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 +/- 0.5 height (m) and to add a critical judgment of the hand radiography.
### Deletions of the SHOX Downstream Regulatory Domain
By comparative genetic analysis, Sabherwal et al. (2007) identified 8 highly conserved noncoding DNA elements (CNE2 to CNE9) within a 200-kb interval, located between 48 and 215 kb downstream of the SHOX gene, and functional analysis showed that CNE4, CNE5, and CNE9 had cis-regulatory activity in the developing limbs of chicken embryos. Sabherwal et al. (2007) stated that their findings indicated that the deleted region in the affected families contains several distinct elements that regulate SHOX expression in the developing limb, and noted that deletion of these elements in humans with both SHOX genes intact generates a phenotype apparently indistinguishable from that of patients with mutations in the SHOX coding region.
Chen et al. (2009) analyzed copy number variation in the pseudoautosomal region of the sex chromosomes in 735 individuals with idiopathic short stature (ISS) and in 58 patients with Leri-Weill syndrome. They identified 31 microdeletions in the pseudoautosomal region in ISS patients, 8 of which involved only enhancer CNEs (CNE7, CNE8, and CNE9) residing at least 150 kb centromeric to the SHOX gene. In the Leri-Weill patients, 29 microdeletions were identified, 13 of which involved CNEs and left the SHOX gene intact. These deletions were not found in 100 controls. Chen et al. (2009) concluded that enhancer deletions in the SHOX downstream region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome.
Benito-Sanz et al. (2012) identified a recurrent 47.5-kb deletion in the pseudoautosomal region 1 (PAR1) downstream of the SHOX gene (312865.0016) in 19 of 124 probands with Leri-Weill dyschondrosteosis (15.3%) and 11 of 576 probands with idiopathic short stature (300582) (1.9%). The deletion did not include any of the SHOX enhancer elements known at that time. Conservation analysis of the deleted region followed by chromosome conformation capture and luciferase reporter assays demonstrated the presence of an evolutionarily conserved region (ECR1) that acted as a novel orientation- and position-independent SHOX enhancer.
### Turner Syndrome
Relevant to the earlier work on these short stature genes is the work of Ellison et al. (1996, 1997), who reported the isolation of the SHOX gene from the PAR which they suggested might be involved in the short stature of Turner syndrome. Ellison et al. (1996, 1997) named the gene PHOG for 'pseudoautosomal homeobox-containing osteogenic gene'. Turner syndrome is presumably the result of haploinsufficiency of certain genes on the X chromosome. Gene dosage considerations led to the prediction that the genes implicated are those that escape X inactivation and have functional Y homologs. Among the genes possessing these characteristics are those residing in the PAR. Genes in the PAR that are dosage sensitive probably contribute to the short stature observed in Turner syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
SHORT STATURE, IDIOPATHIC, X-LINKED
|
c1845118
| 27,725 |
omim
|
https://www.omim.org/entry/300582
| 2019-09-22T16:20:04 |
{"mesh": ["C564479"], "omim": ["300582"], "orphanet": ["314795"], "synonyms": []}
|
Diabetic neuropathy refers to various types of nerve damage associated with diabetes mellitus. Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensory symptoms such as numbness, tingling, or pain; or autonomic changes such as urinary symptoms. These changes are thought to result from microvascular injury involving small blood vessels that supply nerves (vasa nervorum). Relatively common conditions which may be associated with diabetic neuropathy include distal symmetric polyneuropathy; third, fourth, or sixth cranial nerve palsy;[1] mononeuropathy; mononeuropathy multiplex; diabetic amyotrophy; and autonomic neuropathy.
## Contents
* 1 Signs and symptoms
* 1.1 Sensorimotor polyneuropathy
* 1.2 Autonomic neuropathy
* 1.3 Cranial neuropathy
* 2 Pathogenesis
* 2.1 Microvascular disease
* 2.2 Advanced glycated end products
* 2.3 Polyol pathway
* 3 Diagnosis
* 3.1 Classification
* 4 Prevention
* 5 Treatment
* 5.1 Blood glucose management
* 5.2 Topical agents
* 5.3 Medications
* 5.3.1 Antiepileptic drugs
* 5.3.2 Serotonin-norepinephrine reuptake inhibitors
* 5.3.3 Tricyclic antidepressants
* 5.3.4 Opioids
* 5.4 Medical devices
* 5.5 Physical therapy
* 5.6 Other
* 6 Prognosis
* 7 Epidemiology
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
Illustration depicting areas affected by diabetic neuropathy
Diabetic neuropathy can affect any peripheral nerves including sensory neurons, motor neurons, and the autonomic nervous system. Therefore, diabetic neuropathy has the potential to affect essentially any organ system and can cause a range of symptoms. There are several distinct syndromes based on the organ systems affected.
### Sensorimotor polyneuropathy[edit]
Longer nerve fibers are affected to a greater degree than shorter ones because nerve conduction velocity is slowed in proportion to a nerve's length. In this syndrome, decreased sensation and loss of reflexes occurs first in the toes on each foot, then extends upward. It is usually described as a glove-stocking distribution of numbness, sensory loss, dysesthesia and night time pain. The pain can feel like burning, pricking sensation, achy or dull. A pins and needles sensation is common. Loss of proprioception, the sense of where a limb is in space, is affected early. These patients cannot feel when they are stepping on a foreign body, like a splinter, or when they are developing a callus from an ill-fitting shoe. Consequently, they are at risk of developing ulcers and infections on the feet and legs, which can lead to amputation. Similarly, these patients can get multiple fractures of the knee, ankle or foot, and develop a Charcot joint. Loss of motor function results in dorsiflexion, contractures of the toes, loss of the interosseous muscle function that leads to contraction of the digits, so-called hammer toes. These contractures occur not only in the foot but also in the hand where the loss of the musculature makes the hand appear gaunt and skeletal. The loss of muscular function is progressive.
### Autonomic neuropathy[edit]
The autonomic nervous system is composed of nerves serving the heart, lungs, blood vessels, bone, adipose tissue, sweat glands, gastrointestinal system and genitourinary system. Autonomic neuropathy can affect any of these organ systems. One commonly recognized autonomic dysfunction in diabetics is orthostatic hypotension, or becoming dizzy and possibly fainting when standing up due to a sudden drop in blood pressure. In the case of diabetic autonomic neuropathy, it is due to the failure of the heart and arteries to appropriately adjust heart rate and vascular tone to keep blood continually and fully flowing to the brain. This symptom is usually accompanied by a loss of respiratory sinus arrhythmia – the usual change in heart rate seen with normal breathing. These two findings suggest autonomic neuropathy.
Gastrointestinal manifestations include gastroparesis, nausea, bloating, and diarrhea. Because many diabetics take oral medication for their diabetes, absorption of these medicines is greatly affected by the delayed gastric emptying. This can lead to hypoglycemia when an oral diabetic agent is taken before a meal and does not get absorbed until hours, or sometimes days later when there is normal or low blood sugar already. Sluggish movement of the small intestine can cause bacterial overgrowth, made worse by the presence of hyperglycemia. This leads to bloating, gas and diarrhea.
Urinary symptoms include urinary frequency, urgency, incontinence and retention. Again, because of the retention of urine, urinary tract infections are frequent. Urinary retention can lead to bladder diverticula, kidney stones, and reflux nephropathy.
### Cranial neuropathy[edit]
When cranial nerves are affected, neuropathies of the oculomotor nerve (cranial nerve #3 or CNIII) are most common. The oculomotor nerve controls all the muscles that move the eye except for the lateral rectus and superior oblique muscles. It also serves to constrict the pupil and open the eyelid. The onset of a diabetic third nerve palsy is usually abrupt, beginning with frontal or pain around the eye and then double vision. All the oculomotor muscles innervated by the third nerve may be affected, but those that control pupil size are usually well-preserved early on. This is because the parasympathetic nerve fibers within CNIII that influence pupillary size are found on the periphery of the nerve (in terms of a cross-sectional view), which makes them less susceptible to ischemic damage (as they are closer to the vascular supply). The sixth nerve, the abducens nerve, which innervates the lateral rectus muscle of the eye (moves the eye laterally), is also commonly affected but fourth nerve, the trochlear nerve, (innervates the superior oblique muscle, which moves the eye downward) involvement is unusual. Damage to a specific nerve of the thoracic or lumbar spinal nerves can occur and may lead to painful syndromes that mimic a heart attack, gallbladder inflammation, or appendicitis. Diabetics have a higher incidence of entrapment neuropathies, such as carpal tunnel syndrome.
## Pathogenesis[edit]
The following processes are thought to be involved in the development of diabetic neuropathy:
### Microvascular disease[edit]
Main article: Microangiopathy
Vascular and neural diseases are closely related. Blood vessels depend on normal nerve function, and nerves depend on adequate blood flow. The first pathological change in the small blood vessels is narrowing of the blood vessels. As the disease progresses, neuronal dysfunction correlates closely with the development of blood vessel abnormalities, such as capillary basement membrane thickening and endothelial hyperplasia, which contribute to diminished oxygen tension and hypoxia. Neuronal ischemia is a well-established characteristic of diabetic neuropathy. Blood vessel opening agents (e.g., ACE inhibitors, α1-antagonists) can lead to substantial improvements in neuronal blood flow, with corresponding improvements in nerve conduction velocities. Thus, small blood vessel dysfunction occurs early in diabetes, parallels the progression of neural dysfunction, and may be sufficient to support the severity of structural, functional, and clinical changes observed in diabetic neuropathy.
### Advanced glycated end products[edit]
Main article: Advanced glycation end product
Elevated levels of glucose within cells cause a non-enzymatic covalent bonding with proteins, which alters their structure and inhibits their function. Some of these glycated proteins have been implicated in the pathology of diabetic neuropathy and other long-term complications of diabetes.
### Polyol pathway[edit]
Main article: Polyol pathway
Also called the sorbitol/aldose reductase pathway, the polyol pathway appears to be implicated in diabetic complications, especially in microvascular damage to the retina,[2] kidney,[3] and nerves.[4]
## Diagnosis[edit]
Diabetic peripheral neuropathy can be diagnosed with a history and physical examination. The diagnosis is considered in people who develop pain or numbness in a leg or foot with a history of diabetes. Physical exam findings may include changes in appearance of the feet, presence of ulceration, and diminished ankle reflexes, the most useful physical examination findings for large fiber neuropathy are an abnormally decreased vibration perception to a 128-Hz tuning fork (likelihood ratio (LR) range, 16–35) or pressure sensation with a 5.07 Semmes-Weinstein monofilament (LR range, 11–16). Normal results on vibration testing (LR range, 0.33–0.51) or monofilament (LR range, 0.09–0.54) make large fiber peripheral neuropathy from diabetes less likely.[5] Nerve conduction tests may show reduced functioning of the peripheral nerves, but seldom correlate with the severity of diabetic peripheral neuropathy and are not appropriate as routine tests for the condition.[6]
### Classification[edit]
Diabetic neuropathy encompasses a series of different neuropathic syndromes which can be categorized as follows:[7]
* Focal and multifocal neuropathies:
* Mononeuropathy which affects one nerve
* Amyotrophy or radiculopathy such as proximal diabetic neuropathy, affecting a specific pattern of nerves
* Multiple lesions, affecting nerves that don't follow a specific pattern, also called "mononeuritis multiplex"
* Nerve damage from entrapment (e.g. median, ulnar, peroneal)
* Symmetrical neuropathies:
* Sensory
* Autonomic
* Distal symmetrical polyneuropathy (DSPN), the diabetic type of which is also known as diabetic peripheral neuropathy (DPN) (most common presentation)
## Prevention[edit]
This section needs expansion. You can help by adding to it. (March 2017)
Diabetic neuropathy can be largely prevented by maintaining blood glucose levels and lifestyle modifications.[8][9] Enhanced glucose control methods include more frequent subcutaneous insulin administration, continuous insulin infusion, oral antidiabetic agents, while lifestyle modifications may include exercise alone, or in combination with dietary modifications. Enhanced glucose control prevents the development of clinical neuropathy and reduces nerve abnormalities in type 1 diabetes, and delays the onset of neuropathy in both types of diabetes. However, such methods may increase the likelihood of experiencing a hypoglycemic event, and many of these more aggressive methods require more frequent insulin use which has been associated with excessive risk of falls.[10]
## Treatment[edit]
### Blood glucose management[edit]
Treatment of early manifestations of sensorimotor polyneuropathy involves improving glycemic control.[11] Tight control of blood glucose can reverse the changes of diabetic neuropathy if the neuropathy and diabetes are recent in onset. This is the primary treatment of diabetic neuropathy that may change the course of the condition as the other treatments focus on reducing pain and other symptoms.
### Topical agents[edit]
Capsaicin applied to the skin in a 0.075% concentration has not been found to be more effective than placebo for treating pain associated with diabetic neuropathy. There is insufficient evidence to draw conclusions for more concentrated forms of capsaicin, clonidine, or lidocaine applied to the skin.[12] About 10% of people who use capsaicin cream have a large benefit.[13]
### Medications[edit]
Medication options for pain control include antiepileptic drugs (AEDs), serotonin-norepinephrine reuptake inhibitors (SNRIs), and tricyclic antidepressants (TCAs).[14]
A systematic review concluded that "tricyclic antidepressants and traditional anticonvulsants are better for short term pain relief than newer generation anticonvulsants."[15] A further analysis of previous studies showed that the agents carbamazepine, venlafaxine, duloxetine, and amitriptyline were more effective than placebo, but that comparative effectiveness between each agent is unclear.[16]
The only three medications approved by the United States' Food and Drug Administration for diabetic peripheral neuropathy (DPN) are the antidepressant duloxetine, the anticonvulsant pregabalin, and the long-acting opioid tapentadol ER (extended release).[17][18] Before trying a systemic medication, some doctors recommend treating localized diabetic peripheral neuropathy with lidocaine patches.[6]
#### Antiepileptic drugs[edit]
Multiple guidelines from medical organizations such as the American Association of Clinical Endocrinologists, American Academy of Neurology, European Federation of Neurological Societies, and the National Institute of Clinical Excellence recommend AEDs, such as pregabalin, as first-line treatment for painful diabetic neuropathy.[19] Pregabalin is supported by low-quality evidence as more effective than placebo for reducing diabetic neuropathic pain but its effect is small.[12] Studies have reached differing conclusions about whether gabapentin relieves pain more effectively than placebo.[12][20] Available evidence is insufficient to determine if zonisamide or carbamazepine are effective for diabetic neuropathy.[12] The first metabolite of carbamazepine, known as oxcarbazepine, appears to have a small beneficial effect on pain. A 2014 systematic review and network meta-analysis concluded topiramate, valproic acid, lacosamide, and lamotrigine are ineffective for pain from diabetic peripheral neuropathy.[14][12] The most common side effects associated with AED use include sleepiness, dizziness, and nausea.[12]
#### Serotonin-norepinephrine reuptake inhibitors[edit]
As above, the serotonin-norepinephrine reuptake inhibitors (SNRIs) duloxetine and venlafaxine are recommended in multiple medical guidelines as first or second-line therapy for DPN.[19] A 2017 systematic review and meta-analysis of randomized controlled trials concluded there is moderate quality evidence that duloxetine and venlafaxine each provide a large benefit in reducing diabetic neuropathic pain.[12] Common side effects include dizziness, nausea, and sleepiness.[12]
#### Tricyclic antidepressants[edit]
TCAs include imipramine, amitriptyline, desipramine, and nortriptyline. They are generally regarded as first or second-line treatment for DPN.[19] Of the TCAs, imipramine has been the best studied.[12] These medications are effective at decreasing painful symptoms but suffer from multiple side effects that are dose-dependent.[12] One notable side effect is cardiac toxicity, which can lead to fatal abnormal heart rhythms. Additional common side effects include dry mouth, difficulty sleeping, and sedation.[12] At low dosages used for neuropathy, toxicity is rare,[citation needed] but if symptoms warrant higher doses, complications are more common. Among the TCAs, amitriptyline is most widely used for this condition, but desipramine and nortriptyline have fewer side effects.
#### Opioids[edit]
Typical opioid medications, such as oxycodone, appear to be no more effective than placebo. In contrast, low-quality evidence supports a moderate benefit from the use of atypical opioids (e.g., tramadol and tapentadol), which also have SNRI properties.[12] Opioid medications are recommended as second or third-line treatment for DPN.[19]
### Medical devices[edit]
Monochromatic infrared photo energy treatment (MIRE) has been shown to be an effective therapy in reducing and often eliminating pain associated with diabetic neuropathy.[citation needed] The studied wavelength of 890 nm is able to penetrate into the subcutaneous tissue where it acts upon a specialized part of the cell called the cytochrome C. The infrared light energy prompts the cytochrome C to release nitric oxide into the cells. The nitric oxide in turn promotes vasodilation which results in increased blood flow that helps nourish damaged nerve cells. Once the nutrient rich blood is able to reach the affected areas (typically the feet, lower legs and hands) it promotes the regeneration of nerve tissues and helps reduce inflammation thereby reducing and/or eliminating pain in the area.
Transcutaneous electrical nerve stimulation (TENS) and interferential current (IFC) use a painless electric current and the physiological effects from low frequency electrical stimulation to relieve stiffness, improve mobility, relieve neuropathic pain, reduce oedema, and heal resistant foot ulcers.[21]
### Physical therapy[edit]
Physical therapy may help reduce dependency on pain relieving drug therapies. Certain physiotherapy techniques can help alleviate symptoms brought on from diabetic neuropathy such as deep pain in the feet and legs, tingling or burning sensation in extremities, muscle cramps, muscle weakness, sexual dysfunction, and diabetic foot.[22]
Gait training, posture training, and teaching these patients the basic principles of off-loading can help prevent and/or stabilize foot complications such as foot ulcers.[21] Off-loading techniques can include the use of mobility aids (e.g. crutches) or foot splints.[21] Gait re-training would also be beneficial for individuals who have lost limbs, due to diabetic neuropathy, and now wear a prosthesis.[21]
Exercise programs, along with manual therapy, will help to prevent muscle contractures, spasms and atrophy. These programs may include general muscle stretching to maintain muscle length and a person's range of motion.[23] General muscle strengthening exercises will help to maintain muscle strength and reduce muscle wasting.[24] Aerobic exercise such as swimming and using a stationary bicycle can help peripheral neuropathy, but activities that place excessive pressure on the feet (e.g. walking long distances, running) may be contraindicated.[25]
Heat, therapeutic ultrasound,[21] hot wax[21] are also useful for treating diabetic neuropathy.[21] Pelvic floor muscle exercises can improve sexual dysfunction caused by neuropathy.
### Other[edit]
Low-quality evidence supports a moderate-large beneficial effect of botulinum toxin injections.[12] There is insufficient evidence to draw firm conclusions for the utility of the cannabinoids nabilone and nabiximols.[12]
## Prognosis[edit]
The mechanisms of diabetic neuropathy are poorly understood. At present, treatment alleviates pain and can control some associated symptoms, but the process is generally progressive.
As a complication, there is an increased risk of injury to the feet because of loss of sensation (see diabetic foot). Small infections can progress to ulceration and this may require amputation.[26]
## Epidemiology[edit]
Globally diabetic neuropathy affects approximately 132 million people as of 2010 (1.9% of the population).[27]
Diabetes is the leading known cause of neuropathy in developed countries, and neuropathy is the most common complication and greatest source of morbidity and mortality in diabetes. It is estimated that neuropathy affects 25% of people with diabetes.[28] Diabetic neuropathy is implicated in 50–75% of nontraumatic amputations.
The main risk factor for diabetic neuropathy is hyperglycemia. In the DCCT (Diabetes Control and Complications Trial, 1995) study, the annual incidence of neuropathy was 2% per year but dropped to 0.56% with intensive treatment of Type 1 diabetics. The progression of neuropathy is dependent on the degree of glycemic control in both Type 1 and Type 2 diabetes. Duration of diabetes, age, cigarette smoking, hypertension, height, and hyperlipidemia are also risk factors for diabetic neuropathy.
## References[edit]
1. ^ "What Is Microvascular Cranial Nerve Palsy?". aao.org. 1 September 2017. Archived from the original on 22 December 2017.
2. ^ Behl T, Kaur I, Kotwani A (Jun 2015). "Implication of oxidative stress in progression of diabetic retinopathy". Surv Ophthalmol. 61 (2): 187–196. doi:10.1016/j.survophthal.2015.06.001. PMID 26074354.
3. ^ Forbes, JM; Coughlan MT; Cooper ME (June 2008). "Oxidative stress as a major culprit in kidney disease in diabetes". Diabetes. 57 (6): 1446–1454. doi:10.2337/db08-0057. PMID 18511445. Archived from the original on 2009-04-15.
4. ^ Javed S, Petropoulos IN, Alam U, Malik RA (Jan 2015). "Treatment of painful diabetic neuropathy". Ther Adv Chronic Dis. 6 (1): 15–28. doi:10.1177/2040622314552071. PMC 4269610. PMID 25553239.
5. ^ Kanji JN, Anglin RE, Hunt DL, Panju A (April 2010). "Does this patient with diabetes have large-fiber peripheral neuropathy?". JAMA. 303 (15): 1526–32. doi:10.1001/jama.2010.428. PMID 20407062.
6. ^ a b King SA (October 1, 2008). "Diabetic Peripheral Neuropathic Pain: Effective Management". Consultant. 48 (11).
7. ^ Aristidis Veves; John M. Giurini; Frank W. LoGerfo (2012-06-12). The Diabetic Foot: Medical and Surgical Management (3rd ed.). Springer Science & Business Media. p. 34. ISBN 978-1-61779-791-0.
8. ^ Pop-Busui, Rodica; Boulton, Andrew J.M.; Feldman, Eva L.; Bril, Vera; Freeman, Roy; Malik, Rayaz A.; Sosenko, Jay M.; Ziegler, Dan (20 December 2016). "Diabetic Neuropathy: A Position Statement by the American Diabetes Association". Diabetes Care. 40 (1): 136–154. doi:10.2337/dc16-2042. PMC 6977405. PMID 27999003.
9. ^ "What Is Diabetic Neuropathy?". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 8 October 2020.
10. ^ Callaghan, BC; Little, AA; Feldman, EL; Hughes, RAC (2012). "Enhanced glucose control for preventing and treating diabetic neuropathy". Cochrane Database of Systematic Reviews. 6 (6): CD007543. doi:10.1002/14651858.cd007543.pub2. PMC 4048127. PMID 22696371.
11. ^ The Diabetes Control and Complications Trial Research Group. (1995). "The effect of intensive diabetes therapy on the development and progression of neuropathy". Ann. Intern. Med. 122 (8): 561–8. doi:10.7326/0003-4819-122-8-199504150-00001. PMID 7887548. S2CID 24754081.
12. ^ a b c d e f g h i j k l m n Waldfogel, JM; Nesbit, SA; Dy, SM; Sharma, R; Zhang, A; Wilson, LM; Bennett, WL; Yeh, HC; Chelladurai, Y; Feldman, D; Robinson, KA (May 2017). "Pharmacotherapy for diabetic peripheral neuropathy pain and quality of life: A systematic review". Neurology (Systematic Review & Meta-Analysis). 88 (20): 1958–67. doi:10.1212/WNL.0000000000003882. PMID 28341643. S2CID 40159060.
13. ^ Derry, S; Rice, AS; Cole, P; Tan, T; Moore, RA (13 January 2017). "Topical capsaicin (high concentration) for chronic neuropathic pain in adults" (PDF). The Cochrane Database of Systematic Reviews (Systematic Review). 1: CD007393. doi:10.1002/14651858.CD007393.pub4. hdl:10044/1/49554. PMC 6464756. PMID 28085183.
14. ^ a b Griebeler, ML; Morey-Vargas, OL; Brito, JP; Tsapas, A; Wang, Z; Carranza Leon, BG; Phung, OJ; Montori, VM; Murad, MH (November 2014). "Pharmacologic interventions for painful diabetic neuropathy: An umbrella systematic review and comparative effectiveness network meta-analysis". Annals of Internal Medicine (Systematic Review & Meta-Analysis). 161 (9): 639–49. doi:10.7326/M14-0511. PMID 25364885.
15. ^ Wong MC, Chung JW, Wong TK (2007). "Effects of treatments for symptoms of painful diabetic neuropathy: systematic review". BMJ. 335 (7610): 87. doi:10.1136/bmj.39213.565972.AE. PMC 1914460. PMID 17562735.
16. ^ Griebeler ML, Morey-Vargas OL, Brito JP, Tsapas A, Wang Z, Carranza Leon BG, Phung OJ, Montori VM, Murad MH (4 Nov 2014). "Pharmacologic interventions for painful diabetic neuropathy: an umbrella systematic review and comparative effectiveness network meta-analysis". Ann Intern Med. 161 (9): 639–49. doi:10.7326/M14-0511. PMID 25364885.
17. ^ Bril V, England J, Franklin GM, et al. (May 2011). "Evidence-based guideline: Treatment of painful diabetic neuropathy: report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation". Neurology. 76 (20): 1758–65. doi:10.1212/WNL.0b013e3182166ebe. PMC 3100130. PMID 21482920.
18. ^ "Prescribing Information" (PDF). Archived (PDF) from the original on 2016-02-08. Retrieved 2013-01-26.
19. ^ a b c d Ziegler, D; Fonseca, V (January–February 2015). "From guideline to patient: a review of recent recommendations for pharmacotherapy of painful diabetic neuropathy". Journal of Diabetes and Its Complications (Review). 29 (1): 146–56. doi:10.1016/j.jdiacomp.2014.08.008. PMID 25239450.
20. ^ Wiffen, PJ; Derry, S; Bell, RF; Rice, AS; Tölle, TR; Phillips, T; Moore, RA (June 2017). "Gabapentin for chronic neuropathic pain in adults". Cochrane Database of Systematic Reviews (Systematic Review & Meta-Analysis). 6: CD007938. doi:10.1002/14651858.CD007938.pub4. PMC 6452908. PMID 28597471.
21. ^ a b c d e f g Kalra, Sanjay; Kalra, Bharti; Sharma, Naresh (2007). "Prevention and Management of Diabetes: The Role of the Physiotherapist" (PDF). Diabetes Voice. 52 (3): 12–14. Archived (PDF) from the original on 2010-12-14. Retrieved 2011-05-03.
22. ^ "Diabetic Neuropathy". PubMed Health. 2010-04-19. Archived from the original on 2011-02-05. Retrieved 2011-05-03.
23. ^ Wiktorsson-Moller, Margareta; Oberg, Birgitta; Ekstrand, Jan; Gillquist, Jan (July 1983). "Effects of Warming Up, Massage, and Stretching on Range of Motion and Muscle Strength in the Lower Extremity". The American Journal of Sports Medicine. 11 (4): 249–252. doi:10.1177/036354658301100412. PMID 6614296. S2CID 39037628.
24. ^ Borges, Cristiane; Castao, Karine; Souto, Patricia; Zan, Tatiane; Pompeu, Jose; Fukuda, Thiago (2009). "Effects of Resisted Exercise on Muscular Strength, Spasticity and Functionality in Chronic Hemiparetic Subjects: A Systematic Review" (PDF). The Journal of Applied Research. 9 (4): 147–158. Archived (PDF) from the original on 2012-03-23. Retrieved 2011-05-03.
25. ^ Typpo, Omaha (2010-12-26). "Importance of Physical Activity in Neuropathy". Demand Media Inc. Archived from the original on 2012-03-13. Retrieved 2011-05-03.
26. ^ Arad Y, Fonseca V, Peters A, Vinik A (2011). "Beyond the Monofilament for the Insensate Diabetic Foot: A systematic review of randomized trials to prevent the occurrence of plantar foot ulcers in patients with diabetes". Diabetes Care. 34 (4): 1041–6. doi:10.2337/dc10-1666. PMC 3064020. PMID 21447666.
27. ^ Vos, T (Dec 15, 2012). "Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2163–96. doi:10.1016/S0140-6736(12)61729-2. PMC 6350784. PMID 23245607.
28. ^ Snyder, MJ; Gibbs, LM; Lindsay, TJ (1 August 2016). "Treating Painful Diabetic Peripheral Neuropathy: An Update". American Family Physician. 94 (3): 227–34. PMID 27479625.
## Further reading[edit]
* Bril, Vera; England, John D.; Franklin, Gary M.; Backonja, Miroslav; Cohen, Jeffrey A.; Del Toro, David R.; Feldman, Eva L.; Iverson, Donald J.; Perkins, Bruce; Russell, James W.; Zochodne, Douglas W. (June 2011). "Evidence-based guideline: Treatment of painful diabetic neuropathy-report of the American Association of Neuromuscular and Electrodiagnostic Medicine, the American Academy of Neurology, and the American Academy of Physical Medicine & Rehabilitation". Muscle & Nerve. 43 (6): 910–917. doi:10.1002/mus.22092. hdl:2027.42/84412. PMID 21484835. Archived from the original on 2015-02-16. Retrieved 2015-01-08.
* Pop-Busui, Rodica; Boulton, Andrew J.M.; Feldman, Eva L.; Bril, Vera; Freeman, Roy; Malik, Rayaz A.; Sosenko, Jay M.; Ziegler, Dan (20 December 2016). "Diabetic Neuropathy: A Position Statement by the American Diabetes Association". Diabetes Care. 40 (1): 136–154. doi:10.2337/dc16-2042. PMC 6977405. PMID 27999003.
## External links[edit]
Classification
D
* ICD-10: E10.4, E11.4, E12.4, E13.4, E14.4
* ICD-9-CM: 250.6
* MeSH: D003929
External resources
* MedlinePlus: 000693
* Diabetic Neuropathy at WebMD
* Diabetic Polyneuropathy at Medscape
* Diabetic Nerve Problems. MedlinePlus' extensive reference list of pertinent sites.
* v
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Diabetes
Types
* Type 1
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Neuropathic pain and fibromyalgia pharmacotherapies
Monoaminergics
* SNRIs (e.g., duloxetine, milnacipran)
* TCAs (e.g., amitriptyline, nortriptyline, dosulepin)
* Opioid MRIs (e.g., tapentadol, tramadol)
Ion channel blockers
* Anticonvulsants (e.g., gabapentin, pregabalin, mirogabalin, carbamazepine, oxcarbazepine, lacosamide, lamotrigine)
* Local anesthetics (e.g., lidocaine)
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Others
* Alpha lipoic acid
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* Sodium oxybate (GHB)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Diabetic neuropathy
|
c0011882
| 27,726 |
wikipedia
|
https://en.wikipedia.org/wiki/Diabetic_neuropathy
| 2021-01-18T18:56:56 |
{"mesh": ["D003929"], "umls": ["C0011882"], "icd-10": ["E10.4"], "wikidata": ["Q2046550"]}
|
A language delay is a language disorder in which a child fails to develop language abilities at the usual age-appropriate period in their developmental timetable. It is most commonly seen in children from two years-old to the age of seven years-old and can sometimes continue into late childhood. The reported prevalence of language delay is not agreed upon and ranges from 2.3 to 19 percent.[1]
Language is a uniquely human form of communication that entails the use of words in a standard and structured way.[2] Language is distinct from communication. Communication is a two-stage process. The first stage is the process of encoding the message into a set of words (or signs in the case of Sign Languages) and sentence structures that convey the required meaning, i.e. into language. In the second stage, language is translated into motor commands that control the articulators (hands, face, body, lungs, vocal cords, mouth, tongue, teeth, etc.), thereby creating speech.
Language delays are distinct from speech delays, in which the development of the mechanical and motor aspects of speech production are delayed. Speech is the verbal motor production of language, while language is a means of communication.[1] Because language and speech are independent, they may be individually delayed. For example, a child may be delayed in speech (i.e., unable to produce intelligible speech sounds), but not delayed in language because they use a Sign Language.
A language delay is commonly divided into receptive and expressive categories. Receptive language refers to the process of understanding language. Expressive language refers to the use of sentences (made of words or signs) to communicate messages to others. Both categories are essential in developing effective communication.
Language delays are recognized by comparing language development of children to recognized developmental milestones. They are presented in a variety of ways, as every individual child has a unique set of language skills and deficiencies that are identifiable through many different screenings and tools. There are different causes leading to language delay; it is often a result of another developmental disorder and treatment requires analysis of the unique individual causes. The condition is frequently observed early on, among two- and three-year-olds.[3] Early language delays are only considered risk-factors in leading to more severe language disorders.[3]
## Contents
* 1 Language Development
* 1.1 Timeline of typical speech and language developmental milestones
* 1.2 Language development in language delay
* 2 Presentation
* 2.1 Early signs and symptoms (red flags)
* 2.2 Identification
* 2.3 Complications
* 3 Causes
* 4 Treatment
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Language Development[edit]
There are recognizable speech and language developmental milestones.[4] Language delays are often identified when a child strays from the expected developments in the timeline of typical speech and language developmental milestones that researchers agree on.[4] Children can stray slightly from the confines of the expected timeline, but, in the case that a child is observed to be largely straying from the expected timeline, the child's caretaker should consult with a medical specialist.
### Timeline of typical speech and language developmental milestones[edit]
This timeline only provides a general outline of expected developments from birth to age five, individual children can still exhibit varying development patterns as this timeline only serves as a general guideline. This timeline is only one model, other models regarding language development exist.[2] The development of language remains a theoretical mystery.[5]
Newborn baby: No language skills developed yet, but is communicating through actions and sounds such as crying.
Around 2 months, babies can make “cooing" sounds.[4]
Around 4 months, babies can respond to voices.[4]
Around 6 months, babies begin to babble and respond to names.[4]
Around 9 months, babies begin to produce mama/dada - appropriate terms and are able to imitate one word at a time.[4]
Around 12 months, toddlers can typically speak one or more words. They can produce two words with meaning.[4]
Around 15 months, toddlers begin to produce jargon,[4] which is defined as "pre-linguistic vocalizations in which infants use adult-like stress and intonation".[6]
Around 18 months, toddlers can produce 10 words and follow simple commands.[4]
Around 24 months, toddlers begin to produce 2-3 words and phases that use "I", "Me", and "you", indicating possession.[4] They are about 25% intelligible.[4]
Around 3 years, toddlers are able to use language in numerical terms.
### Language development in language delay[edit]
Early developmental language delay is characterized by slow language development in preschoolers.[3] Language development for children with language delay takes longer than the general timeline provided above.[7] It is not only slower, but also presents itself in different forms. For example, a child with a language delay could have weaker language skills such as the ability to produce phrases at 24 months-old.[7] They may find themselves producing language that is different from language norms in developing children.
## Presentation[edit]
A language delay is most commonly identified around 18 months of age with an enhanced well-baby visit.[8] It presents itself in many forms and can be comorbid or develop as a result of other developmental delays. It is important to remember that language delays act and develop differently individually. Language delay is different than individual variation in language development, and is defined by children falling behind on the timeline for recognized milestones.[9]
### Early signs and symptoms (red flags)[edit]
Language delay in children is associated with increased difficulty with reading, writing, attention, and/or socialization.[1] Children that do not effectively compare with their peers in these abilities and have drastic difficulties should see a physician.[1] Language delay could be present itself early on as a lack of communicative gestures or sounds.
For example, communicative tools might indicate language delay symptoms, such as:
* Not smiling at 3 months-old
* Not turning the head towards sounds at 4 months-old.
* Not pointing at 15 months-old.
* More specifically, not being able to produce around 10 words at 18 months-old.[10][11][12]
Later symptoms include:
* A lack of speech.[1]
* An inability to comprehend, process, or understand language presented to the child.[1]
### Identification[edit]
Many different screening tools are available to identify language delay in young children. The Language Development Survey (LDS; developed by Rescorla[13]) is a 10 minute, parent-administered and simple tool to help identify language delays in children at two years-old.[14] It is a validated, suitable, and inexpensive screening tool that enables the early assessment of language delay.[14]
There is currently insufficient evidence in literature to suggest an argument for or against routine use of formal screening instruments in to detect language delay in all children.[1] However, if a child is not meeting expected language milestones, a comprehensive developmental evaluation is necessary.[1]
### Complications[edit]
Language delay is a risk factor for other types of developmental delay, including social, emotional, and cognitive delay. Even though speech and language delays may affect a smaller portion of the population in children, it still can have an incredible impact on their life and their accomplishments in the future. Some of these include problems with behavior, difficulty with reading, and other issues related to spelling and low IQ scores.[15] Some children may grow out of these deficits, even coming to excel where they once lagged, while others do not. One particularly common result of language delay is delayed or inadequate acquisition of reading skills. Reading depends upon an ability to code and decode script (i.e., match speech sounds with symbols, and vice versa). If a child is still struggling to master language and speech, it is very difficult to learn another level of complexity (writing). Thus, it is crucial that children have facility with language to be successful readers.
Neuroscientist Steven Pinker postulated in 1999 that a certain form of language delay (dubbed "Einstein syndrome" by economist Thomas Sowell in 2001) may be associated with exceptional and innate analytical prowess in some individuals, such as Albert Einstein, Richard Feynman and Edward Teller.[16]
## Causes[edit]
Language delays are the most frequent developmental delays, and can occur for many reasons. A delay can be due to being a “late bloomer”, “late talker”, or a more serious problem. The most common causes of speech delay include
* Hearing loss
* Slow development
* Intellectual disability
Such delays can occur in conjunction with a lack of mirroring of facial responses, unresponsiveness or unawareness of certain noises, a lack of interest in playing with other children or toys, or no pain response to stimuli.[17][18] There are other causes to language delay.
* Autism (a developmental disorder) - There is strong evidence that autism is commonly associated with language delay.[19][20] Asperger syndrome, which is on the autistic spectrum, however, is not associated with language delay.[21]
* Being a twin or a younger sibling increases the chance of speech and language delays. Reasons for this are thought to include less one-on-one time with parents, premature birth with twins, and the companionship of their twin sibling reducing their motivation to talk to others.[22] With being a younger sibling, it can also be linked to less one on one time with their parents or guardians. Older siblings also tend to talk for their younger siblings, giving them less opportunities to grow their language skills.[23]
* Gender and family history: Correlation with male sex, previous family history, and maternal education has been demonstrated.[24]
* Genetic abnormalities - In 2005, researchers found a connection between expressive language delay and a genetic abnormality: a duplicate set of the same genes that are missing in sufferers of Williams-Beuren syndrome. Also so called XYY syndrome can often cause speech delay.[25]
* Neonatal Brachial Plexus Palsy \- There exists a high prevalence of early language delay exists among toddlers with neonatal brachial plexus palsy.[26]
* Poverty \- Poverty is a risk factor for language delay as a result of a lack of access appropriate therapies.[27] Socioeconomic adversities correlate with delayed language development.[28]
* Psychosocial deprivation \- The child doesn't spend enough time communicating with adults, such as babbling and joint attention. Research on early brain development shows that babies and toddlers have a critical need for direct interactions with parents and other significant care givers for healthy brain growth and the development of appropriate social, emotional, and cognitive skills.[29]
* Television viewing - Excessive television viewing is associated with delayed language development. Children who watched television alone were 8.47 times more likely to have language delay when compared to children who interacted with their caregivers during television viewing.[30] Some educational television shows, such as Blue's Clues, have been found to enhance a child's language development.[31] But, as recommended by the American Academy of Pediatrics, children under the age of 2 should watch no television at all, and after age 2 watch no more than one to two hours of quality programming a day. Therefore, exposing such young children to television programs should be discouraged, especially television shows with no educational value.[31] Parents should engage children in more conversational activities to avoid television-related delays to their children language development, which could impair their intellectual performance. However, in a study conducted by Dr. Birken of the Hospital for Sick Children, it was found that watching television while interacting with a parent of caregiver is actually beneficial for children who are bilingual. The study spanned four years, from 2011 to 2015, and was based on parent report and clinician observation. Over the four years it was found that if a bilingual child had interaction with an adult while watching television they did not suffer language delay and it in fact helped them develop English, their second language.[32]
* Symptoms of stress: Stress during pregnancy is associated with language delay.[33]
* Chemical exposure during pregnancy.[34]
## Treatment[edit]
Studies have failed to find clear evidence that a language delay can be prevented by training or educating health care professionals in the subject. Overall, some of the reviews show positive results regarding interventions in language delay, but are not curative.[35] To treat an already existing language delay a child would need Speech and Language Therapy to correct any deficits. These therapists can be found in schools, clinics, through home care agencies, and also colleges where Communication Sciences and Disorders are studied. Most young children with language delay recover to a normal range by five years of age.[3]
Aside from these, it is still encouraged for the child's parent to get involved. A few ways that a parent could get involved with helping to improve a child’s language and speech skills includes speaking to their child with enthusiasm, engaging in conversations revolving what the child is focusing on, and reading to their child frequently.[36]
Social and play skills appear to be more difficult for children with language delays due to their decreased experience in conversation. Speech Pathologists utilize methods such as prompting to improve a child's social skills through play intervention. While recent studies have consistently found play intervention to be helpful, further research is required in order to determine the effectiveness of this form of therapy.[37]
In regards to demographic factors causing language delay, specifically poverty, system-level changes improve access to treatment for children with language delay and allow them therapies.[27]
## See also[edit]
Syndromes or disorders
* Auditory processing disorder
* Down syndrome
* Developmental verbal dyspraxia
* Nonverbal autism
General topics
* Bilingualism
* Cleft palate
* Late talker
* Psycholinguistics
* Speech therapy
* Utterance
* Speech production (vocalization)
## References[edit]
1. ^ a b c d e f g h McLaughlin, Maura R. (2011-05-15). "Speech and Language Delay in Children". American Family Physician. 83 (10): 1183–1188. ISSN 0002-838X. PMID 21568252.
2. ^ a b Owens, Robert E. (2005). Language Development: An Introduction. Boston: Pearson. pp. 125–136.
3. ^ a b c d Whitehurst, G. J.; Fischel, J. E. (1994). "Practitioner review: early developmental language delay: what, if anything, should the clinician do about it?". Journal of Child Psychology and Psychiatry, and Allied Disciplines. 35 (4): 613–648. doi:10.1111/j.1469-7610.1994.tb01210.x. ISSN 0021-9630. PMID 8040218.
4. ^ a b c d e f g h i j k "MCCQE 2000 Review Notes and Lecture Series Pediatrics 1 - PDF". docplayer.net. Retrieved 2019-10-20.
5. ^ Taylor, Christine M. (1999). "Review : An examination of the development of language in the normal child". Journal of Child Health Care. 3 (1): 35–38. doi:10.1177/136749359900300105. ISSN 1367-4935. PMID 10451332.
6. ^ Sroufe, L. Alan (1996). Child development : its nature and course /. McGraw-Hill. ISBN 9780070605701.
7. ^ a b "MCCQE 2000 Review Notes and Lecture Series Pediatrics 1 - PDF". docplayer.net. Retrieved 2019-10-20.
8. ^ "MCCQE 2000 Review Notes and Lecture Series Pediatrics 1 - PDF". docplayer.net. Retrieved 2019-10-20.
9. ^ Wooles, Nicola; Swann, Joanna; Hoskison, Emma (2018-01-01). "Speech and language delay in children: a case to learn from". British Journal of General Practice. 68 (666): 47–48. doi:10.3399/bjgp17X694373. ISSN 0960-1643. PMC 5737311. PMID 29284642.
10. ^ Gavin Bremner, J.; Wachs, Theodore D. (2011-08-02). The Wiley-Blackwell Handbook of Infant Development, Volume 2: Applied and Policy Issues. ISBN 9781444351842.
11. ^ Buckley, Sue; Sacks, Ben (2001). An Overview of the Development of Infants with Down Syndrome (0-5 Years). ISBN 9781903806029.
12. ^ Crocetti, Michael; Barone, Michael A.; Oski, Frank A. (2004). Oski's Essential Pediatrics. ISBN 9780781737708.
13. ^ Rescorla, Leslie (1989). "The Language Development Survey". Journal of Speech and Hearing Disorders. 54 (4): 587–599. doi:10.1044/jshd.5404.587. ISSN 0022-4677. PMID 2811339.
14. ^ a b Mossabeb, Roschanak; Wade, Kelly C.; Finnegan, Kathryn; Sivieri, Emidio; Abbasi, Soraya (2012). "Language Development Survey Provides a Useful Screening Tool for Language Delay in Preterm Infants". Clinical Pediatrics. 51 (7): 638–644. doi:10.1177/0009922812439244. PMID 22399570 – via Sage Journals.
15. ^ US Preventive Services Task Force (2006). "Screening for speech and language delay in preschool children: Recommendation statement". Pediatrics. 117 (2): 497–501. doi:10.1542/peds.2005-2766. PMID 16452370.
16. ^ Pinker, Steven (24 June 1999). "His Brain Measured Up". The New York Times. Archived from the original on 11 December 2006. Retrieved 2006-12-04.
17. ^ "Language Learning Styles". TLG. August 2013. Archived from the original on 23 August 2013. Retrieved 22 August 2013.
18. ^ "Frequently Asked Questions". American Academy of Children & Adolescent Psychiatry. Retrieved 22 August 2013.
19. ^ Miniscalco, C; Nygren, G; Hagberg, B; Kadesjö, B; Gillberg, C (May 2006). "Neuropsychiatric and neurodevelopmental outcome of children at age 6 and 7 years who screened positive for language problems at 30 months" (PDF). Developmental Medicine & Child Neurology. 48 (5): 361–6. doi:10.1017/S0012162206000788. hdl:2077/851. PMID 16608544.
20. ^ Hagberg BS, Miniscalco C, Gillberg C (2010). "Clinic attenders with autism or attention-deficit/hyperactivity disorder: cognitive profile at school age and its relationship to preschool indicators of language delay". Research in Developmental Disabilities. 31 (1): 1–8. doi:10.1016/j.ridd.2009.07.012. PMID 19713073.
21. ^ American Psychiatric Association (2000). "Diagnostic criteria for 299.00 Autistic Disorder". Diagnostic and statistical manual of mental disorders: DSM-IV (4 ed.). Washington, DC: American Psychiatric Association. ISBN 0-89042-025-4. OCLC 768475353.
22. ^ "Do Twins Talk to Each Other in a Secret Language?". Twin Pickle. 2017-11-07. Retrieved 2018-03-06.
23. ^ Turnbull, Khara; Justice, Laura (2017). Language Development from Theory to Practice (Third ed.). Pearson.
24. ^ Campbell, T F; Dollaghan, C A; Rockette, H E; Paradise, J L; Feldman, H M; Shriberg, L D; Sabo, D L; Kurs-Lasky, M (2002). "Risk factors for speech delay of unknown origin in 3-year-old children" (PDF). Child Development. 74 (2): 346–57. doi:10.1111/1467-8624.7402002. PMID 12705559.
25. ^ "47,XYY syndrome".
26. ^ Chang, Kate Wan-Chu; Yang, Lynda J.-S.; Driver, Lynn; Nelson, Virginia S. (2014-09-01). "High Prevalence of Early Language Delay Exists Among Toddlers With Neonatal Brachial Plexus Palsy". Pediatric Neurology. 51 (3): 384–389. doi:10.1016/j.pediatrneurol.2014.04.021. ISSN 0887-8994. PMC 4792271. PMID 25160543.
27. ^ a b Brown, Courtney M.; Beck, Andrew F.; Steuerwald, Wendy; Alexander, Elizabeth; Samaan, Zeina M.; Kahn, Robert S.; Mansour, Mona (2016-02-01). "Narrowing Care Gaps for Early Language Delay: A Quality Improvement Study". Clinical Pediatrics. 55 (2): 137–144. doi:10.1177/0009922815587090. ISSN 0009-9228. PMC 4788473. PMID 25994319.
28. ^ O'Hare, Anne; Bremner, Lynne (2016). "Management of developmental speech and language disorders: Part 1". Archives of Disease in Childhood. 101 (3): 272–277. doi:10.1136/archdischild-2014-307394. ISSN 1468-2044. PMID 26208514.
29. ^ Committee on Public Education (August 1999). "Media education". Pediatrics. 104 (2 Pt 1): 341–3. doi:10.1542/peds.104.2.341. PMID 10429023.
30. ^ Chonchaiya, W; Pruksananonda, C (July 2008). "Television viewing associates with delayed language development". Acta Paediatrica. 97 (7): 977–82. doi:10.1111/j.1651-2227.2008.00831.x. PMID 18460044.
31. ^ a b Bavelier, Daphne; Green, Shawn; Dye, Matthew (2010). "Children, wired – for better and for worse". Neuron. 67 (5): 692–701. doi:10.1016/j.neuron.2010.08.035. PMC 3170902. PMID 20826302.
32. ^ Akpan, N (2017-05-04). "Toddler's Screen Time Linked to Slower Speech Development". PBS. PBS. Retrieved 1 December 2018.
33. ^ Talge, NM; Neal, C; Glover, V (2007). "Antenatal maternal stress and long-term effects on child neurodevelopment: how and why?". Journal of Child Psychology and Psychiatry. 48 (3–4): 245–61. doi:10.1111/j.1469-7610.2006.01714.x. PMID 17355398.
34. ^ Repouskou, Anastasia; Papadopoulou, Anastasia-Konstantina; Panagiotidou, Emily; Trichas, Panagiotis; Lindh, Christian; Bergman, Åke; Gennings, Chris; Bornehag, Carl-Gustaf; Rüegg, Joëlle; Kitraki, Efthymia; Stamatakis, Antonios (2020-06-09). "Long term transcriptional and behavioral effects in mice developmentally exposed to a mixture of endocrine disruptors associated with delayed human neurodevelopment". Scientific Reports. 10 (1): 9367. doi:10.1038/s41598-020-66379-x. ISSN 2045-2322.
35. ^ Commentary - Early Identification of Language Delays, 2005.
36. ^ Klass, Perri (2010). "When to worry if a child has too few words". The Hamilton Spectator. The Hamilton Spectator.
37. ^ Sualy, Abbey; Yount, Sara; Kelly-Vance, Lisa; Ryalls, Brigette (2011). "Using a play intervention to improve the play skills of children with a language delay". International Journal of Psychology: 105–122 – via PsychINFO.
## Further reading[edit]
* Wilson, Philip; McQuaige, Fiona; Thompson, Lucy; McConnachie, Alex (2013). "Language Delay Is Not Predictable from Available Risk Factors". The Scientific World Journal. 2013: 947018. doi:10.1155/2013/947018. PMC 3618945. PMID 23576912.
## External links[edit]
* Speech Therapy for Down Syndrome
* Different Issues in Speech and Language Development \- American Speech-Language-Hearing Association (ASHA)
* Delay in Speech and Language \- KidsHealth
* Early Identification of Speech -Language Delays and Disorders
* Speech and Language Delays and Disorders \- University of Michigan Health System
* CHAPTER III - Assessment Methods for Young Children With Communications Disorders
* https://www.nidcd.nih.gov/health/statistics/statistics-voice-speech-and-language#3 \- National Institute of Deafness and Other Communication Disorders
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*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
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*[[*]]: Article is not yet available in this wiki.
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*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
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*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
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*[m.]: married
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*[transl.]: translation
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X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
X-linked myotubular myopathy-abnormal genitalia syndrome
|
c1846169
| 27,728 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=456328
| 2021-01-23T19:11:16 |
{"mesh": ["C564561"], "omim": ["300219"], "synonyms": ["Xq28 contiguous gene deletion syndrome"]}
|
SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
SSR4-CDG
|
c4012395
| 27,729 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370927
| 2021-01-23T18:50:08 |
{"gard": ["12405"], "omim": ["300934"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Iy", "CDG-Iy", "CDG1Y", "Carbohydrate deficient glycoprotein syndrome type Iy", "Congenital disorder of glycosylation type 1y", "Congenital disorder of glycosylation type Iy"]}
|
Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Autoimmune pancreatitis type 2
|
None
| 27,730 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280315
| 2021-01-23T18:01:15 |
{"icd-10": ["K86.1"], "synonyms": ["AIP type 2", "Duct-centric pancreatitis"]}
|
Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated 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
|
Autoimmune pancreatitis type 1
|
c4302243
| 27,731 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280302
| 2021-01-23T18:09:54 |
{"icd-10": ["K86.1"], "synonyms": ["AIP type 1", "IgG4-related pancreatitis", "Lymphoplasmacytic sclerosing pancreatitis"]}
|
Salivary gland atresia is congenital blockage or absence of the orifice of a major salivary gland duct or part of the duct itself.[1]
It is a very rare condition.[1][2] The submandibular salivary gland duct is usually involved, having failed to cannulate during embryological development. The condition first becomes apparent in the first few days after birth where a submandibular swelling caused by a retention cyst is noticed.[2]
## References[edit]
1. ^ a b Graamans K; van den Hans A (6 December 2012). Diagnosis of salivary gland disorders. Springer Science & Business Media. p. 115. ISBN 978-94-011-3608-2.
2. ^ a b Mayur Chaudhary M; Chaudhary SD (1 April 2012). Essentials of Pediatric Oral Pathology. JP Medical Ltd. p. 304. ISBN 978-93-5025-374-8.
* 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
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* 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
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* 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
This article about a congenital malformation is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Salivary gland atresia
|
None
| 27,732 |
wikipedia
|
https://en.wikipedia.org/wiki/Salivary_gland_atresia
| 2021-01-18T18:58:09 |
{"wikidata": ["Q25098882"]}
|
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.
More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly).
Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.
## Frequency
Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and Black South Africans.
## Causes
Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue.
The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.
Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of the ICL so the cross-link can be removed and DNA replication can continue.
Eighty to 90 percent of cases of Fanconi anemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG. These genes provide instructions for producing components of the FA core complex. Mutations in any of the many genes associated with the FA core complex will cause the complex to be nonfunctional and disrupt the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop acute myeloid leukemia or other cancers.
### Learn more about the genes associated with Fanconi anemia
* BRCA2
* FANCA
* FANCC
* FANCG
Additional Information from NCBI Gene:
* BRIP1
* FANCB
* FANCD2
* FANCE
* FANCF
* FANCI
* FANCL
* FANCM
* PALB2
* RAD51C
* SLX4
## Inheritance Pattern
Fanconi anemia is most often 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.
Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Fanconi anemia
|
c4015968
| 27,733 |
medlineplus
|
https://medlineplus.gov/genetics/condition/fanconi-anemia/
| 2021-01-27T08:25:41 |
{"gard": ["6425"], "omim": ["609644", "227650", "300514", "227645", "605724", "227646", "600901", "603467", "614082", "609053", "609054", "614083", "610832", "613390", "613951"], "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. (March 2015) (Learn how and when to remove this template message)
Idiopathic giant-cell myocarditis
Other namesIGCM[1]
Myocardium is affected by this condition
SpecialtyCardiology
Idiopathic giant-cell myocarditis (IGCM) is a cardiovascular disease of the muscle of the heart (myocardium).
The condition is rare;[2] however, it is often fatal and there is no proven cure because of the unknown nature of the disorder.
IGCM frequently leads to death with a high rate of about 70% in first year. A patient with IGCM typically presents with symptoms of heart failure, although some may present initially with ventricular arrhythmia or heart block. Median age from the time the disease is diagnosed to the time of death is approximately 6 months. 90% of patients are either deceased by the end of 1 year or have received a heart transplant. Diagnosis is made by endomyocardial biopsy during heart catheterization. Biopsy shows multinucleated giant cells and thus the name. While previously cases universally required heart transplantation, recent studies show that two thirds of patients can survive past one year with high doses of immunosuppressants such as prednisone and cyclosporine. The transplanted heart has a high chance of disease recurrence. Compared to lymphocytic (presumed viral) myocarditis, giant cell myocarditis is much more severe with much more rapid progression.
It is suggested to be caused by T-lymphocytes.
## See also[edit]
* Idiopathic
* Giant cell
* Myocarditis
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Idiopathic giant cell myocarditis". www.orpha.net. Retrieved 23 October 2019.
2. ^ Cooper LT, Berry GJ, Shabetai R (June 1997). "Idiopathic giant-cell myocarditis--natural history and treatment. Multicenter Giant Cell Myocarditis Study Group Investigators". N. Engl. J. Med. 336 (26): 1860–6. doi:10.1056/NEJM199706263362603. PMID 9197214.
## External links[edit]
Classification
D
* ICD-10: I40.8
* ICD-9-CM: 422.91
External resources
* Orphanet: 329874
* 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
This article about a medical condition affecting the circulatory 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
|
Idiopathic giant-cell myocarditis
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None
| 27,734 |
wikipedia
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https://en.wikipedia.org/wiki/Idiopathic_giant-cell_myocarditis
| 2021-01-18T18:33:41 |
{"gard": ["6502"], "icd-10": ["I40.8"], "orphanet": ["329874"], "synonyms": ["IGCM"], "wikidata": ["Q17125239"]}
|
Meningioma
Other namesMeningeal tumor[1]
A contrast-enhanced CT scan of the brain, demonstrating the appearance of a meningioma
SpecialtyNeurosurgery
SymptomsNone, seizures, dementia, trouble talking, vision problems, one sided weakness[2]
Usual onsetAdults[1]
TypesGrade I, II, III[1]
Risk factorsIonizing radiation, family history[3]
Diagnostic methodMedical imaging[2]
Differential diagnosisHaemangiopericytoma, lymphoma, schwannoma, solitary fibrous tumour, metastasis[4]
TreatmentObservation, surgery, radiation therapy[2]
MedicationAnticonvulsants, corticosteroids[2]
Prognosis95% ten year survival with complete removal[5]
Frequencyc. 1 per 1,000 (US)[3]
Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the meninges, the membranous layers surrounding the brain and spinal cord.[1] Symptoms depend on the location and occur as a result of the tumor pressing on nearby tissue.[3][6] Many cases never produce symptoms.[2] Occasionally seizures, dementia, trouble talking, vision problems, one sided weakness, or loss of bladder control may occur.[2]
Risk factors include exposure to ionizing radiation such as during radiation therapy, a family history of the condition, and neurofibromatosis type 2.[2][3] As of 2014 they do not appear to be related to cell phone use.[6] They appear to be able to form from a number of different types of cells including arachnoid cells.[1][2] Diagnosis is typically by medical imaging.[2]
If there are no symptoms, periodic observation may be all that is required.[2] Most cases that result in symptoms can be cured by surgery.[1] Following complete removal fewer than 20% recur.[2] If surgery is not possible or all the tumor cannot be removed radiosurgery may be helpful.[2] Chemotherapy has not been found to be useful.[2] A small percentage grow rapidly and are associated with worse outcomes.[1]
About one per thousand people in the United States are currently affected.[3] Onset is usually in adults.[1] In this group they represent about 30% of brain tumors.[4] Women are affected about twice as often as men.[3] Meningiomas were reported as early as 1614 by Felix Plater.[7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetics
* 3 Pathophysiology
* 3.1 Locations
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 6.1 Observation
* 6.2 Surgery
* 6.3 Radiation therapy
* 6.4 Chemotherapy
* 7 Epidemiology
* 8 History
* 9 Notable cases
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Small tumors (e.g., < 2.0 cm) usually are incidental findings at autopsy without having caused symptoms. Larger tumors may cause symptoms, depending on the size and location.
* Focal seizures may be caused by meningiomas that overlie the cerebrum.
* Progressive spastic weakness in legs and incontinence may be caused by tumors that overlie the parasagittal frontoparietal region.[citation needed]
* Tumors of the Sylvian aqueduct may cause myriad motor, sensory, aphasic, and seizure symptoms, depending on the location.
* Increased intracranial pressure eventually occurs, but is less frequent than in gliomas.
* Diplopia (Double vision) or uneven pupil size may be symptoms if related pressure causes a third and/or sixth nerve palsy.
## Causes[edit]
The causes of meningiomas are not well understood.[8] Most cases are sporadic, appearing randomly, while some are familial. Persons who have undergone radiation, especially to the scalp, are more at risk for developing meningiomas, as are those who have had a brain injury.[9] Atomic bomb survivors from Hiroshima had a higher than typical frequency of developing meningiomas, with the incidence increasing the closer that they were to the site of the explosion. Dental x-rays are correlated with an increased risk of meningioma, in particular for people who had frequent dental x-rays in the past, when the x-ray dose of a dental x-ray was higher than in the present.[10]
Having excess body fat increases the risk.[11]
A 2012 review found that mobile telephone use was unrelated to meningioma.[12]
People with neurofibromatosis type 2 (NF-2) have a 50% chance of developing one or more meningiomas.
Ninety-two percent of meningiomas are benign. Eight percent are either atypical or malignant.[7]
### Genetics[edit]
The most frequent genetic mutations (~50%) involved in meningiomas are inactivation mutations in the neurofibromatosis 2 gene (merlin) on chromosome 22q.
TRAF7 mutations are present in about one-fourth of meningiomas. Mutations in the TRAF7, KLF4, AKT1, and SMO genes are commonly expressed in benign skull-base meningiomas. Mutations in NF2 are commonly expressed in meningiomas located in the cerebral and cerebellar hemispheres.[13]
## Pathophysiology[edit]
Micrograph of a meningioma showing the characteristic whorling, HPS stain
Micrograph of a meningioma with brain invasion (WHO Grade II); the tumour (bottom/right of image) has the typical "pushing border" invasion into the cerebral cortex (top/left of image), HPS stain
Meningiomas arise from arachnoidal cells,[14] most of which are near the vicinity of the venous sinuses, and this is the site of greatest prevalence for meningioma formation. They most frequently are attached to the dura over the superior parasagittal surface of frontal and parietal lobes, along the sphenoid ridge, in the olfactory grooves, the sylvian region, superior cerebellum along the falx cerebri, cerebellopontine angle, and the spinal cord. The tumor is usually gray, well-circumscribed, and takes on the form of the space it occupies. They usually are dome-shaped, with the base lying on the dura.
### Locations[edit]
* Parasagittal/falcine (25%)
* Convexity (surface of the brain) (19%)
* Sphenoid ridge (17%)
* Suprasellar (9%)
* Posterior fossa (8%)
* Olfactory groove (8%)
* Middle fossa/Meckel's cave (4%)
* Tentorial (3%)
* Peri-torcular (3%)
Other uncommon locations are the lateral ventricle, foramen magnum, and the orbit/optic nerve sheath.[7] Meningiomas also may occur as a spinal tumor, more often in women than in men. This occurs more often in Western countries than Asian.
Histologically, meningioma cells are relatively uniform, with a tendency to encircle one another, forming whorls and psammoma bodies (laminated calcific concretions).[15] As such, they also have a tendency to calcify and are highly vascularized.
Meningiomas often are considered benign tumors that can be removed by surgery, but most recurrent meningiomas correspond to histologic benign tumors. The metabolic phenotype of these benign recurrent meningiomas indicated an aggressive metabolism resembling that observed for atypical meningioma.[16]
## Diagnosis[edit]
A meningioma that previously had been operated on, with surrounding edema
MRI image of a meningioma with contrast
Meningiomas are visualized readily with contrast CT, MRI with gadolinium,[17] and arteriography, all attributed to the fact that meningiomas are extra-axial and vascularized. CSF protein levels are usually found to be elevated when lumbar puncture is used to obtain spinal fluid.
Although the majority of meningiomas are benign, they may have malignant presentations. Classification of meningiomas are based upon the WHO classification system.[18]
* Benign (Grade I) – (90%) – meningothelial, fibrous, transitional, psammomatous, angioblastic
* Atypical (Grade II) – (7%) – chordoid, clear cell, atypical (includes brain invasion)
* Anaplastic/malignant (Grade III) – (2%) – papillary, rhabdoid, anaplastic (most aggressive)
In a 2008 review of the latter two categories, atypical and anaplastic-meningioma cases, the mean overall survival for atypical meningiomas was found to be 11.9 years vs. 3.3 years for anaplastic meningiomas. Mean relapse-free survival for atypical meningiomas was 11.5 years vs. 2.7 years for anaplastic meningiomas.[19]
Malignant anaplastic meningioma is an especially malignant tumor with aggressive behavior. Even if, by general rule, neoplasms of the nervous system (brain tumors) cannot metastasize into the body because of the blood–brain barrier, anaplastic meningioma can. Although they are inside the cerebral cavity, they are located on the bloodside of the BBB, because meningiomas tend to be connected to blood vessels. Thus, cancerized cells can escape into the bloodstream, which is why meningiomas, when they metastasize, often turn up around the lungs.
Anaplastic meningioma and hemangiopericytoma are difficult to distinguish, even by pathological means, as they look similar, especially, if the first occurrence is a meningeal tumor, and both tumors occur in the same types of tissue.[citation needed]
Although usually benign a "petro-clival" menigioma is typically fatal without treatment due to its location. Until the 1970s no treatment was available for this type of meningioma however since that time a range of surgical and radiological treatments have evolved. Nevertheless the treatment of this type of meningioma remains a challenge with relatively frequent poor outcomes.[20]
## Prevention[edit]
The risk of meningioma can be reduced by maintaining a normal body weight,[21] and by avoiding unnecessary dental x-rays.[22]
## Treatment[edit]
### Observation[edit]
Observation with close imaging follow-up may be used in select cases if a meningioma is small and asymptomatic. In a retrospective study on 43 patients, 63% of patients were found to have no growth on follow-up, and the 37% found to have growth at an average of 4 mm / year.[23] In this study, younger patients were found to have tumors that were more likely to have grown on repeat imaging; thus are poorer candidates for observation. In another study, clinical outcomes were compared for 213 patients undergoing surgery vs. 351 patients under watchful observation.[24] Only 6% of the conservatively treated patients developed symptoms later, while among the surgically treated patients, 5.6% developed persistent morbid condition, and 9.4% developed surgery-related morbid condition.
Observation is not recommended in tumors already causing symptoms. Furthermore, close follow-up with imaging is required with an observation strategy to rule out an enlarging tumor.[25]
### Surgery[edit]
Meningiomas usually can be surgically resected (removed) and result in a permanent cure if the tumor is superficial on the dural surface and easily accessible. Transarterial embolization has become a standard preoperative procedure in the preoperative management.[26] If invasion of the adjacent bone occurs, total removal is nearly impossible. It is rare for benign meningiomas to become malignant.
The probability of a tumor recurring or growing after surgery may be estimated by comparing the tumor's WHO (World Health Organization) grade and by the extent of surgery by the Simpson Criteria.[27]
Simpson Grade Completeness of Resection 10-year Recurrence
Grade I complete removal including resection of underlying bone and associated dura 9%
Grade II complete removal and coagulation of dural attachment 19%
Grade III complete removal without resection of dura or coagulation 29%
Grade IV subtotal resection 40%
### Radiation therapy[edit]
Radiation therapy may include photon-beam or proton-beam treatment, or fractionated external beam radiation. Radiosurgery may be used in lieu of surgery in small tumors located away from critical structures.[28] Fractionated external-beam radiation also can be used as primary treatment for tumors that are surgically unresectable or, for patients who are inoperable for medical reasons.
Radiation therapy often is considered for WHO grade I meningiomas after subtotal (incomplete) tumor resections. The clinical decision to irradiate after a subtotal resection is somewhat controversial, as no class I randomized, controlled trials exist on the subject.[29] Numerous retrospective studies, however, have suggested strongly that the addition of postoperative radiation to incomplete resections improves both progression-free survival (i.e. prevents tumor recurrence) and improves overall survival.[30]
In the case of a grade III meningioma, the current standard of care involves postoperative radiation treatment regardless of the degree of surgical resection.[31] This is due to the proportionally higher rate of local recurrence for these higher-grade tumors. Grade II tumors may behave variably and there is no standard of whether to give radiotherapy following a gross total resection. Subtotally resected grade II tumors should be radiated.
### Chemotherapy[edit]
Likely, current chemotherapies are not effective. Antiprogestin agents have been used, but with variable results.[32] A 2007 study of whether hydroxyurea has the capacity to shrink unresectable or recurrent meningiomas is being further evaluated.[33]
## Epidemiology[edit]
Many individuals have meningiomas, but remain asymptomatic, so the meningiomas are discovered during an autopsy. One to two percent of all autopsies reveal meningiomas that were unknown to the individuals during their lifetime, since there were never any symptoms. In the 1970s, tumors causing symptoms were discovered in 2 out of 100,000 people, while tumors discovered without causing symptoms occurred in 5.7 out of 100,000, for a total incidence of 7.7/100,000. With the advent of modern sophisticated imaging systems such as CT scans, the discovery of asymptomatic meningiomas has tripled.
Meningiomas are more likely to appear in women than men, though when they appear in men, they are more likely to be malignant. Meningiomas may appear at any age, but most commonly are noticed in men and women age 50 or older, with meningiomas becoming more likely with age. They have been observed in all cultures, Western and Eastern, in roughly the same statistical frequency as other possible brain tumors.[7]
## History[edit]
The neoplasms currently referred to as meningiomas were referred to with a wide range of names in older medical literature, depending on the source. Various descriptors included "fungoid tumors", "fungus of the dura mater", "epithelioma", "psammoma", "dural sarcoma", "dural endothelioma", "fibrosarcoma", "angioendothelioma", "arachnoidal fibroboastoma", "endotheliosis of the meninges", "meningeal fibroblastoma", "meningoblastoma", "mestothelioma of the meninges", "sarcoma of the dura", and others.
The modern term of "meningioma" was used first by Harvey Cushing (1869–1939) in 1922, to describe a set of tumors that occur throughout the neuraxis (brain and spinal cord), but have various commonalities.[34][35] Charles Oberling then separated these into subtypes based on cell structure and, over the years, several other researchers have defined dozens of different subtypes as well. In 1979, the World Health Organization (WHO) classified seven subtypes, upgraded in 2000 to a classification system with nine low-grade variants (grade I tumors) and three variants each of grade II and grade III meningiomas.[35] The most common subtypes are Meningotheliomatous (63%), transitional or mixed-type (19%), fibrous (13%), and psammomatous (2%).[7]
The earliest evidence of a probable meningioma is from a skull approximately 365,000 years old, which was found in Germany. Other probable examples have been discovered in other continents around the world, including North and South America, and Africa.
The earliest written record of what was probably a meningioma is from the 1600s, when Felix Plater (1536–1614) of the University of Basel performed an autopsy on Sir Caspar Bonecurtius.[34] Surgery for removal of meningiomas was first attempted in the sixteenth century, but the first known successful surgery for removal of a meningioma of the convexity (parasagittal) was performed in 1770 by Anoine Luis.[36] The first documented successful removal of a skull base meningioma was performed in 1835 by Zanobi Pecchioli, Professor of Surgery at the University of Siena.[7] Other notable meningioma researchers have been William Macewen (1848–1924), and William W. Keen (1837–1932).[34]
Improvements in meningioma research and treatment over the last century have occurred in terms of the surgical techniques for removal of the tumor, and related improvements in anesthesia, antiseptic methods, techniques to control blood loss, better ability to determine which tumors are and are not operable,[37] and to effectively differentiate between the different meningioma subtypes.[38]
## Notable cases[edit]
* Leonard Wood (1860–1927), underwent successful surgery by Dr. Harvey Cushing for a meningioma circa 1910, a major advance in neurosurgery at the time.[34]
* Crystal Lee Sutton (1940–2009), American union organizer and inspiration for the film Norma Rae, died of a malignant meningioma.[39][40]
* Elizabeth Taylor (1932-2011), American actress, underwent surgery in February 1997 to remove a benign meningioma.[41]
* Kathi Goertzen (1958–2012), television news anchor in Seattle who underwent a very public battle with recurring tumors. She died on August 13, 2012, of complications related to her treatment.[42]
* Eileen Ford (1922–2014), American model agency executive and co-founder of Ford Models. Died on July 9, 2014, from complications of meningioma and osteoporosis.[43]
* Mary Tyler Moore (1936–2017), American actress, underwent surgery in May 2011 to remove a benign meningioma.[44][45]
* Jack Daulton (1956–), American trial lawyer and art collector, underwent three surgeries in 2011-2012 in connection with the removal of a golf-ball-size benign meningioma over his left motor cortex; he fully recovered without disability or recurrence.[46]
## See also[edit]
This article uses anatomical terminology.
## References[edit]
1. ^ a b c d e f g h "Adult Central Nervous System Tumors Treatment". National Cancer Institute. 26 August 2016. Archived from the original on 28 July 2017.
2. ^ a b c d e f g h i j k l m Ferri, Fred F. (2017). Ferri's Clinical Advisor 2018 E-Book: 5 Books in 1. Elsevier Health Sciences. p. 809. ISBN 9780323529570. Archived from the original on 2017-09-10.
3. ^ a b c d e f Wiemels, J; Wrensch, M; Claus, EB (September 2010). "Epidemiology and etiology of meningioma". Journal of Neuro-Oncology. 99 (3): 307–14. doi:10.1007/s11060-010-0386-3. PMC 2945461. PMID 20821343.
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14. ^ "moon.ouhsc.edu". Archived from the original on 2008-12-05. Retrieved 2008-11-30.
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16. ^ Monleón D, Morales JM, Gonzalez-Segura A, Gonzalez-Darder JM, Gil-Benso R, Cerdá-Nicolás M, López-Ginés C (November 2010). "Metabolic aggressiveness in benign meningiomas with chromosomal instabilities". Cancer Research. 70 (21): 8426–8434. doi:10.1158/0008-5472.CAN-10-1498. PMID 20861191. Archived from the original on 2017-02-14. Retrieved 2011-07-12.
17. ^ "Meningioma]". Radiopaedia.
18. ^ Wrobel G, Roerig P, Kokocinski F, et al. (March 2005). "Microarray-based gene expression profiling of benign, atypical and anaplastic meningiomas identifies novel genes associated with meningioma progression". Int. J. Cancer. 114 (2): 249–56. doi:10.1002/ijc.20733. PMID 15540215.
19. ^ Yang SY, Park CK, Park SH, Kim DG, Chung YS, Jung HW (May 2008). "Atypical and anaplastic meningiomas: prognostic implications of clinicopathological features". Journal of Neurology, Neurosurgery, and Psychiatry. 79 (5): 574–80. doi:10.1136/jnnp.2007.121582. hdl:10371/62023. PMID 17766430.
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23. ^ Herscovici Z, et al. (Sep 2004). "Natural history of conservatively treated meningiomas". Neurology. 63 (6): 1133–4. doi:10.1212/01.wnl.0000138569.45818.50. PMID 15452322.
24. ^ Yano S, Kuratsu J (2006). "Indications for surgery in patients with asymptomatic meningiomas based on an extensive experience". J Neurosurg. 105 (4): 538–43. doi:10.3171/jns.2006.105.4.538. PMID 17044555.
25. ^ Olivero WC, et al. (Aug 1995). "The natural history and growth rate of asymptomatic meningiomas: a review of 60 patients". J Neurosurg. 83 (2): 222–4. doi:10.3171/jns.1995.83.2.0222. PMID 7616265.
26. ^ "Archived copy" (PDF). Archived from the original (PDF) on 2007-01-10. Retrieved 2007-01-02.CS1 maint: archived copy as title (link)
27. ^ Simpson D (Feb 1957). "The recurrence of intracranial meningiomas after surgical treatment". J Neurol Neurosurg Psychiatry. 20 (1): 22–39. doi:10.1136/jnnp.20.1.22. PMC 497230. PMID 13406590.
28. ^ Kollová A, Liscák R, Novotný J, Vladyka V, Simonová G, Janousková L (August 2007). "Gamma Knife surgery for benign meningioma". Journal of Neurosurgery. 107 (2): 325–36. doi:10.3171/JNS-07/08/0325. PMID 17695387.
29. ^ Taylor BW, Marcus RB, Friedman WA, Ballinger WE, Million RR (August 1988). "The meningioma controversy: postoperative radiation therapy". International Journal of Radiation Oncology, Biology, Physics. 15 (2): 299–304. doi:10.1016/S0360-3016(98)90008-6. PMID 3403313.
30. ^ Goldsmith BJ, et al. (1994). "Postoperative irradiation for subtotally resected meningiomas. A retrospective analysis of 140 patients treated from 1967 to 1990". J Neurosurg. 80 (2): 195–201. doi:10.3171/jns.1994.80.2.0195. PMID 8283256.
31. ^ Goyal LK, Suh JH, Mohan DS, Prayson RA, Lee J, Barnett GH (January 2000). "Local control and overall survival in atypical meningioma: a retrospective study". International Journal of Radiation Oncology, Biology, Physics. 46 (1): 57–61. doi:10.1016/S0360-3016(99)00349-1. PMID 10656373.
32. ^ Wahab M, Al-Azzawi F (December 2003). "Meningioma and hormonal influences". Climacteric. 6 (4): 285–92. doi:10.1080/cmt.6.4.285.292. PMID 15006250.
33. ^ Newton HB (2007). "Hydroxyurea chemotherapy in the treatment of meningiomas". Neurosurg Focus. 23 (4): E11. doi:10.3171/foc-07/10/e11. PMID 17961035.
34. ^ a b c d Okonkwo DO, Laws ER (2009). "Meningiomas: Historical Perspective". Meningiomas. pp. 3–10. doi:10.1007/978-1-84628-784-8_1. ISBN 978-1-84882-910-7.
35. ^ a b Prayson RA (2009). "Pathology of Meningiomas". Meningiomas. pp. 31–43. doi:10.1007/978-1-84628-784-8_5. ISBN 978-1-84882-910-7.
36. ^ Louis A (1774). "Mêmoire sur les Tumeurs Fungueuses de la Dure-mère". Mem Acad Roy Chir. 5: 1–59.
37. ^ DeMonte, Franco; Ossama Al-Mefty; Michael McDermott (2011). Al-Mefty's Meningiomas (2nd ed.). Thieme. ISBN 978-1-60406-053-9.
38. ^ Al-Kadi, OS (April 2015). "A multiresolution clinical decision support system based on fractal model design for classification of histological brain tumours". Computerized Medical Imaging and Graphics. 41: 67–79. arXiv:1512.08051. doi:10.1016/j.compmedimag.2014.05.013. PMID 24962336.
39. ^ Handgraaf, Brie (2008-06-28). "Real 'Norma Rae' has new battle involving cancer". The Times-News. Archived from the original on 2012-03-02. Retrieved 2012-02-25.
40. ^ Sturgis, Sue (2009-09-14). "Real 'Norma Rae' dies of cancer after insurer delayed treatment". Facing South. Institute for Southern Studies. Archived from the original on 2013-10-27. Retrieved 2012-02-25.
41. ^ "Elizabeth Taylor home from hospital after brain surgery". CNN News. February 26, 1997. Retrieved 2018-12-31.
42. ^ Staff (February 6, 2013). "News anchor Kathi Goertzen dies after long illness". CBS-Channel 5 KING. Archived from the original on April 3, 2015. Retrieved March 5, 2015.
43. ^ Notice of death of Eileen Ford, with causes provided Archived 2014-07-13 at the Wayback Machine, CNN.com, July 10, 2014; accessed July 13, 2014.
44. ^ Goldman, Russell (May 12, 2011). "Mary Tyler Moore has brain surgery for meningioma tumor". ABC News. Archived from the original on February 21, 2012. Retrieved 2012-02-25.
45. ^ Genzlinger, Neil (January 26, 2012). "Boy, did she make it". The New York Times. Archived from the original on February 15, 2012. Retrieved February 25, 2012.
46. ^ https://www.youtube.com/watch?v=Bljirn0Gkyc&t=57s
## External links[edit]
* MR/CT scans of meningioma from MedPix
* MR/CT scans of pneumosinus dilatans from MedPix
* Cancer.Net: Meningioma
Classification
D
* ICD-10: C70, D32
* ICD-9-CM: 225.2
* ICD-O: M9530/0
* OMIM: 607174
* MeSH: D008579
* DiseasesDB: 8008
External resources
* eMedicine: neuro/209 radio/439
* Patient UK: Meningioma
* v
* t
* e
Tumours of the nervous system
Endocrine
Sellar:
* Craniopharyngioma
* Pituicytoma
Other:
* Pinealoma
CNS
Neuroepithelial
(brain tumors,
spinal tumors)
Glioma
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PNET
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Meninges
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* Nerve sheath tumor
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* 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
|
Meningioma
|
c0025286
| 27,735 |
wikipedia
|
https://en.wikipedia.org/wiki/Meningioma
| 2021-01-18T18:59:43 |
{"gard": ["7015"], "mesh": ["D008579"], "umls": ["C0025286", "C1334698", "C1336537", "C0349604", "C0025284"], "icd-9": ["225.2"], "orphanet": ["252025"], "wikidata": ["Q369157"]}
|
Repeated Implantation failure (RIF) is the failure of the embryo to implant onto the side of the uterus wall following IVF treatment.[1] Regularly, this happens at 6–7 days after conception and involves the embedding of the growing embryo into the mothers uterus and a connection being formed.[2] A successful implantation can be determined by using an ultrasound to view the sac which the baby grows in, inside the uterus.[1]
However, the exact definition of RIF is debated. Recently the most commonly accepted definition is when a women under 40 has gone through 3 unsuccessful cycles of IVF, when in each cycle 4 good quality eggs have been transferred.[3]
Repeated implantation failure should not be confused with recurrent IVF failure. Recurrent IVF failure is a much more broad term and includes all repeated failures to get pregnant from IVF. Repeated implantation failure specifically refers to those failures due to unsuccessful implanting to the uterus wall.[1]
An unsuccessful implantation can be down to either problems with the mother or with the embryo. It is essential that the mother and embryo are able to communicate with each other during all stages of pregnancy, and an absence of this communication can lead to an unsuccessful implantation and a further unsuccessful pregnancy.[4]
## Contents
* 1 Contributing Maternal Factors
* 1.1 Congenital Uterine Abnormalities
* 1.2 Hox Genes
* 1.3 Fibroids
* 1.4 Endometrial Polyps
* 1.5 Intrauterine Adhesions
* 1.6 Thrombophilia
* 2 Embryonic Factors
* 2.1 Male Genetic Abnormalities
* 2.2 Female Genetic Abnormalities
* 2.3 Zona Pellucida Dysfunction
* 3 Investigations
* 4 Management
* 5 References
## Contributing Maternal Factors[edit]
During implantation, the embryo must cross the epithelial layer of the maternal endometrium before invading and implanting in the stroma layer. Maternal factors, including congenital uterine abnormalities, fibroids, endometrial polyps, intrauterine adhesions, adenomyosis, thrombophilia and endometriosis, can reduce the chances of implantation and result in RIF.[1]
### Congenital Uterine Abnormalities[edit]
Congenital uterine abnormalities are irregularities in the uterus which occur during the mothers foetal development.[1]
### Hox Genes[edit]
Two genes have been identified to assist in the development and receptivity of the uterus and endometrium, Hoxa10 and Hoxa11.[5] Hoxa10 has been shown to change the upper uterine segment into oviduct-like structures, creating a smaller uterus that appears normal. Embryo transfer into the lower uterine segment does not allow for implantation, so the Hoxa10 gene has multiple effects throughout the uterus.[6] Hoxa11 mutations alter the endometrial gland development and reduce the secretion of Leukaemia-Inhibitory factor (LIF) which is required for implantation.[5]
Uterine Fibroid
### Fibroids[edit]
Fibroids are benign tumours found in the smooth muscle of the uterus, they are often asymptomatic but can cause pelvic pain. They effect implantation rates by altering the shape and cytokine composition of the uterus. Removal of submucosal fibroids has shown to increase implantation rates.[1]
### Endometrial Polyps[edit]
Endometrial polyps are benign tumours found in the endometrium which factor into female infertility. There has been limited research into if their removal increases the chances of implantation and pregnancy.[1]
### Intrauterine Adhesions[edit]
Intrauterine adhesions (Asherman's Syndrome) occur from scar tissue within the uterus which cause the closure of part or all of the uterus. The adhesions prevent embryos from implanting by reducing the surface area and decreasing the receptivity.[7] Intrauterine adhesions normally occur after damage has been caused to the endometrium, either through removal of unwanted pregnancies, miscarriage, infection, and surgical damage.[1]
### Thrombophilia[edit]
Thrombophilia is a condition which makes the blood more likely to clot and this increases cardiovascular risk, meaning the individual is at higher risk of heart attacks, strokes or DVTs.[8] In pregnancy it can lead to a disruption in the flow of blood to the placenta and the uterus wall. This can lead to a decreased receptivity of the uterus wall for a pregnancy and can lead to a miscarriage further on. However, how significantly this contributes to RIF is not fully known but each case should be assessed on a personal basis by a clinician [4]
{{{1}}}
## Embryonic Factors[edit]
Figure 1: The exchange of chromosomal segments between chromosomes 4 to 20. Since no segments are lost, this is a balanced translocation.
The successful implantation of an embryo not only relies on a receptive uterine environment in the mother but also on the quality of the embryo itself. Embryo quality and probability of implantation can be affected by maternal and paternal genetic abnormalities as well as zona pellucida dysfunction and poor embryo transfer technique.[1]
### Male Genetic Abnormalities[edit]
Figure 2: The zona pellucida surrounds the blastocyst cavity that contains the inner cell mass.
The quality of the sperm that fertilizes an egg is a key contributor to the overall quality of the embryo. Abnormalities in DNA fragmentation and chromosomal arrangements are the main source of genetic deviation in males that can affect embryo quality.[9] DNA fragmentation occurs when the strands of DNA are separated to form two separate strands, this disrupts the genetic information that is coded in genes. Depending on the severity of the fragmentation, this can lead to the dysfunction of specific genes which may or may not be essential for embryo survival and in this case the initiation of implantation. DNA fragmentation can happen spontaneously in cells that undergo programmed cell death (apoptosis) where DNA is broken apart by enzymes called endonucleases. However, since the male DNA isn't activated until around day 3 after fertilisation, it is often difficult to diagnose sperm genetic abnormalities because morphological studies could identify a good quality oocyte when initial transfer occurs, but due to DNA fragmentation in the sperm, the embryo will die after day 3 of growth.[9]
### Female Genetic Abnormalities[edit]
Oocyte quality is also a main contributor to overall embryo quality since it is the DNA of the oocyte that is mainly involved in the first 3 days of embryo growth following fertilization. A major source of genetic abnormalities are balanced translocations (Figure 1).[9]
A translocation involves the exchange of segments of chromosomes that are not a homologous pair. In most cases, this leads to balanced translocations, in which no DNA is lost therefore is usually asymptomatic. However, as female gametes are formed, it is probable that 2/3 of embryos produced will have unbalanced translocations within their DNA if fertilised by sperm with a balanced translocation too. Translocation mutations can occur at any point during fertilization or even the first meiotic division that the oocyte undergoes during foetal life.[9]
### Zona Pellucida Dysfunction[edit]
The female egg (oocyte) is surrounded by a layer of glycoproteins called the zona pellucida. Once fertilisation has occurred, this layer will harden to prevent further sperm entering and maintain the shape of the fertilized egg (zygote) as it divides to form a blastocyst (Figure 2).[10] Once the inner cell mass \- the group of cells within the blastocyst that go on to form the embryo - starts to expand, lysin enzymes secreted by the inner cell mass will act on the zona pellucida and weaken the hardened structure. Eventually, this will cause the rupture of the zona pellucida, allowing the blastocyst to hatch and begin to implant into the uterine wall.[1]
If the zona pellucida fails to thin in preparation for rupture, this will prevent the blastocyst from hatching and therefore be unable to implant, therefore this is a probable cause of repeated implantation failure (RIF). This is supported by a study which showed that implantation rates in women who received assisted zona pellucida hatching - use of synthetic chemical to artificially weaken the zona pellucida - increased.[1]
## Investigations[edit]
Women with RIF should undergo ovarian function testing to explore their levels of FSH, AMH and any other hormones or follicle counts which may indicate the overall behaviour of the ovarian reserve.[1] Male partners may also be offered laboratory testing of sperm DNA integrity.[1]
In the instance of genetic testing, karyotyping may be made available to couples with RIF to exclude the possibility of balanced chromosomal translocations.[6] Ultrasounds may be used to oversee the morphological growth and development of follicles throughout IVF treatment, in addition to assessing endometrial thickness.[1][6]
Hysteroscopy is an essential part of investigating a couple’s RIF pathology and is used as a diagnostic tool to examine the cervical canal and uterine cavity.[1]
## Management[edit]
In depth reviews of the underlying causes of a couple's infertility should be undertaken with a qualified fertility specialist in order to make decisions regarding further management.[1]
Modifiable risk factors include smoking, alcohol consumption and BMI.[1] Women with RIF should be advised to abstain from both alcohol and smoking, and male partners may also consider cessation of smoking due to effects associated with weaker sperm counts and damage to sperm DNA and motility.[1] An ideal BMI target for women with RIF is between 19 and 29;[1] obese women may consider structured weight-loss programmes and regular exercise over bariatric surgery due to potential folate, iron, vitamin B12 and other nutritional deficiencies.[1]
Table below showing the main first-line treatments for couples undergoing RIF.[6]
Contribution Factors Treatment
Maternal Uterine anatomy
* Myomectomy
* Removal of polyps and intrauterine adhesions
Impaired endometrial function
* Aspirin
* Sildenafil
* Mechanical stimulation of the endometrium
* High dose oestradiol
Thrombophilia
* LMWH
* Aspirin
Immunology
* High dose (30g) of IVIg before embryo transfer and a second similar dose when fetal heart rate is noticed
Embryonic Genetic causes
* Karyotyping
* Pre-implantation genetic diagnosis (PGD)
Impaired embryo development in utero
* Laser assisted hatching
* Blastocyst culture and transfer
* ZIFT
Paternal Male factor contribution
* IMSI
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t Coughlan, C.; Ledger, W.; Wang, Q.; Liu, Fenghua; Demirol, Aygul; Gurgan, Timur; Cutting, R.; Ong, K.; Sallam, H. (January 2014). "Recurrent implantation failure: definition and management". Reproductive Biomedicine Online. 28 (1): 14–38. doi:10.1016/j.rbmo.2013.08.011. PMID 24269084.
2. ^ Norwitz, Errol R.; Schust, Danny J.; Fisher, Susan J. (2001-11-08). "Implantation and the Survival of Early Pregnancy". New England Journal of Medicine. 345 (19): 1400–1408. doi:10.1056/nejmra000763. ISSN 0028-4793. PMID 11794174.
3. ^ Polanski, Lukasz T.; Baumgarten, Miriam N.; Quenby, Siobhan; Brosens, Jan; Campbell, Bruce K.; Raine-Fenning, Nicholas J. (April 2014). "What exactly do we mean by 'recurrent implantation failure'? A systematic review and opinion". Reproductive BioMedicine Online. 28 (4): 409–423. doi:10.1016/j.rbmo.2013.12.006. ISSN 1472-6483. PMID 24581986.
4. ^ a b Simon, Alex; Laufer, Neri (May 2012). "Repeated implantation failure: clinical approach". Fertility and Sterility. 97 (5): 1039–1043. doi:10.1016/j.fertnstert.2012.03.010. ISSN 0015-0282. PMID 22464086.
5. ^ a b Salleh, Naguib; Giribabu, Nelli (2014). "Leukemia inhibitory factor: roles in embryo implantation and in nonhormonal contraception". TheScientificWorldJournal. 2014: 201514. doi:10.1155/2014/201514. ISSN 1537-744X. PMC 4131495. PMID 25152902.
6. ^ a b c d Margalioth, E. J.; Ben-Chetrit, A.; Gal, M.; Eldar-Geva, T. (December 2006). "Investigation and treatment of repeated implantation failure following IVF-ET". Human Reproduction. 21 (12): 3036–3043. doi:10.1093/humrep/del305. PMID 16905766.
7. ^ Salma, Umme; Xue, Min; Md Sayed, Ali Sheikh; Xu, Dabao (2014). "Efficacy of intrauterine device in the treatment of intrauterine adhesions". BioMed Research International. 2014: 589296. doi:10.1155/2014/589296. ISSN 2314-6141. PMC 4165200. PMID 25254212.
8. ^ Lim, Ming Y; Moll, Stephan (April 2015). "Thrombophilia". Vascular Medicine. 20 (2): 193–196. doi:10.1177/1358863x15575769. ISSN 1358-863X. PMID 25832606.
9. ^ a b c d Simon, Alex; Laufer, Neri (2012-09-14). "Assessment and treatment of repeated implantation failure (RIF)". Journal of Assisted Reproduction and Genetics. 29 (11): 1227–1239. doi:10.1007/s10815-012-9861-4. PMC 3510376. PMID 22976427.
10. ^ Simon, Alex; Laufer, Neri (2012-05-01). "Repeated implantation failure: clinical approach". Fertility and Sterility. 97 (5): 1039–1043. doi:10.1016/j.fertnstert.2012.03.010. PMID 22464086.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Repeated implantation failure
|
None
| 27,736 |
wikipedia
|
https://en.wikipedia.org/wiki/Repeated_implantation_failure
| 2021-01-18T18:58:34 |
{"wikidata": ["Q56792371"]}
|
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 2017)
Congenital bilateral perisylvian syndrome
Other namesCBPS
This condition is inherited in an X-linked dominant manner.[1]
SpecialtyNeurology
Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disease characterized by paralysis of certain facial muscles and epileptic seizures.
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
## Signs and symptoms[edit]
Signs and symptoms of CBPS typically appear in infancy or at birth, but can appear later in childhood. These include facial diplegia (paralysis on both sides), facial muscle spasms, pseudobulbar palsy, dysarthria (difficulty speaking), difficulty chewing, dysphagia (difficulty swallowing), epilepsy, and intellectual disability. Epileptic seizures in individuals with CBPS are different between individuals and can vary between episodes.[2]
## Pathophysiology[edit]
Though the underlying cause of CBPS is unknown, it is thought to arise from improper migration of neuroblasts (neuronal stem cells) to the cerebral cortex in the embryonic brain.[2] This causes the layers of the cerebral cortex to not form properly, and too many small folds (gyri) to form on the surface of the brain.[2] This condition is called bilateral perisylvian polymicrogyria. The sulci, deep grooves on the brain, may also not form correctly. Cranial nerves are affected and cause muscle paralysis and spasms in the face and throat.[2]
## Diagnosis[edit]
Several disorders may appear similar to CBPS and need to be distinguished in the process of diagnosing CBPS. These include pachygyria, double cortex syndrome, and lissencephaly, all of which are classified along with CBPS as neuronal migration disorders.[2] Diagnostic tests for CBPS include electroencephalograms, CT scanning, and magnetic resonance imaging.[2]
## Treatment[edit]
CBPS is commonly treated with anticonvulsant therapy to reduce seizures. Therapies include anticonvulsant drugs, adrenocorticotropic hormone therapy, and surgical therapy, including focal corticectomy and callosotomy. Special education, speech therapy, and physical therapy are also used to help children with intellectual disability due to CBPS.[2]
## Epidemiology[edit]
Males and females have an equal chance of having CBPS.[2]
## References[edit]
1. ^ "OMIM Entry - % 300388 - POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX". www.omim.org. Retrieved 19 August 2017.
2. ^ a b c d e f g h "Congenital Bilateral Perisylvian Syndrome – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-03.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Congenital bilateral perisylvian syndrome
|
c1845668
| 27,737 |
wikipedia
|
https://en.wikipedia.org/wiki/Congenital_bilateral_perisylvian_syndrome
| 2021-01-18T19:07:57 |
{"gard": ["6011"], "mesh": ["C536658"], "umls": ["C1845668"], "orphanet": ["98889"], "wikidata": ["Q25324253"]}
|
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Oculocutaneous albinism type 5
|
c3888401
| 27,738 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370091
| 2021-01-23T18:28:03 |
{"omim": ["615312"], "icd-10": ["E70.3"], "synonyms": ["OCA5"]}
|
A number sign (#) is used with this entry because von Willebrand disease (VWD) type 2 is caused by mutation in the gene encoding von Willebrand factor (VWF; 613160), which maps to chromosome 12p13.
Description
Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. It results from a defect in platelet aggregation due to defects in the von Willebrand factor. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; 300841). F8 is mutated in hemophilia A (306700) (review by Goodeve, 2010).
Whereas von Willebrand disease types 1 (193400) and 3 (277480) are characterized by quantitative defects in the VWF gene, von Willebrand disease type 2, which is divided in subtypes 2A, 2B, 2M, and 2N, is characterized by qualitative abnormalities of the VWF protein. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8. VWD2 accounts for 20 to 30% of cases of VWD (Mannucci, 2004; Sadler et al., 2006; Lillicrap, 2009; Goodeve, 2010).
For a general discussion and a classification of the types of von Willebrand disease, see VWD type 1 (193400).
Clinical Features
Von Willebrand disease type 2, like VWD type 1, is characterized by excessive mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery (Mannucci, 2004). The delineation of different subtypes of VWD type 2 does not reflect clinical differences, but rather different mutant VWF protein phenotypes, which may affect diagnosis, treatment, and counseling (Sadler et al., 2006).
Inheritance
Inheritance of VWD type 2 is generally autosomal dominant, although some cases are characterized by autosomal recessive transmission (Mannucci, 2004).
Pathogenesis
### Von Willebrand Disease Type 2A
The mutant VWF protein in von Willebrand disease type 2A has decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to (1) a failure to synthesize the multimers ('group 1') or (2) enhanced ADAMTS13 (604134)-mediated proteolysis of the secreted high molecular weight protein ('group 2'). Regardless of mechanism in type 2A, the loss of large multimers is associated with decreased VWF-platelet interactions and/or decreased VWF-connective tissue interactions (reviews by Sadler et al., 2006 and Lillicrap, 2009).
Historically, type 2A was subclassified into types IIA, IIC, IID, and IIE. The mutant VWF in type IIA showed increased proteolysis by ADAMTS13; type IIC showed impaired multimerization in the Golgi apparatus due to mutation in the VWF propeptide (Zimmerman and Ruggeri, 1987); type IID showed impaired dimerization in the endoplasmic reticulum due to mutations in the C-terminal domain; and type IIE showed impaired intersubunit disulfide bond formation in the Golgi apparatus (Sadler et al., 2006) and a lack of outer proteolytic bands on gel electrophoresis, indicating reduced proteolysis (Zimmerman et al., 1986). All these subtypes showed dominant inheritance except for IIC, which showed recessive inheritance. These subtypes of type 2A are no longer used because the discrimination has not shown clinical utility; all are now referred to as type 2A (Sadler et al., 2006).
Gralnick et al. (1985) found that in VWD type 2A, inhibition of a calcium-dependent protease in vitro resulted in correction of the abnormal multimeric structure. This suggested that an abnormal VWF protein synthesized in this disorder is susceptible to proteolytic degradation, a process which may play an important role in phenotypic expression of the disease.
### Von Willebrand Disease Type 2B
The mutant VWF protein in VWD type 2B shows increased affinity to platelet GP1BA (606672), resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers. Patients often have secondary thrombocytopenia due to platelet consumption (Sadler et al., 2006).
Othman and Favaloro (2008) reviewed the complexity of VWD type 2B, noting that atypical forms with complete VWF monomers, no mutations in the A1 domain, or with giant platelets have also been reported, suggesting the presence of phenotypic modifiers.
Saba et al. (1985) found chronic thrombocytopenia, in vivo platelet aggregate formation, and spontaneous platelet aggregation in vitro in affected members of a family with VWD type 2B. The 4 affected family members identified were a man and 2 sons and a daughter by 2 different wives.
Holmberg et al. (1986) reported a Swedish family in which 8 members had a variant of VWD type 2B, referred to as 'type 2 Malmo.' There was a mild bleeding disorder, and laboratory studies showed that platelets aggregated at much lower ristocetin concentrations than normal. The bleeding time was variously prolonged, and VWF:Ag, VWF activity, and F8 were decreased. All VWF multimers were present, and there was no thrombocytopenia. The defect in this family, inherited as an autosomal dominant, resembled that of type 2B because of the response to ristocetin, but differed because all VWF multimers were present. Weiss and Sussman (1986) reported a similarly affected family, and referred to this variant as 'type I New York' (Sadler et al., 2006). Wylie et al. (1988) also described this variant and noted that there was no spontaneous aggregation of platelets. Holmberg et al. (1993) reviewed the family reported by Holmberg et al. (1986) and reported another affected German family. Affected individuals had only mild bleeding. Sadler et al. (2006) emphasized that the variant reported by Wylie et al. (1988) and others was a form of VWD type 2B, with increased sensitivity to ristocetin in vivo.
Donner et al. (1987) described 2 families with an apparently autosomal recessive form of type 2B von Willebrand disease. The patients presented in infancy with thrombocytopenia.
Murray et al. (1991) found evidence of gonadal mosaicism in the father of 2 sibs with VWD type 2B who had inherited the same VWF gene, as marked by polymorphisms, i.e., haplotype, as did 7 unaffected sibs.
Jackson et al. (2009) identified a heterozygous V1316M substitution (613160.0007) in affected members of a large French Canadian family with VWD type 2B that had been described originally by Lacombe and D'Angelo (1963); Milton and Frojmovic (1979), and Milton et al. (1984) referred to the disorder in the family as 'Montreal platelet syndrome.' Affected individuals had lifelong bruising; some patients had severe postoperative bleeding, postpartum hemorrhage, and gastrointestinal bleeding. A significant proportion of platelets occurred in microaggregates typically containing 2 to 6 platelets, and the aggregation could be increased by stirring. Milton and Frojmovic (1979) suggested that the appearance of abnormally large platelets was related to a defect in the mechanism that regulates platelet size and shape during shape change. Jackson et al. (2009) found that affected family members had macrothrombocytopenia, borderline to normal VWF antigen, low ristocetin cofactor activity, and normal factor VIII coagulant activity, all consistent with VWD type 2B.
### Von Willebrand Disease Type 2M
The mutant VWF protein in VWD type 2M shows decreased platelet adhesion without a deficiency of high molecular weight multimers. This functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium, consistent with a loss of function (Sadler et al., 2006).
Stepanian et al. (2003) reported a French mother and son with VWD type 2M. Both patients had a moderate bleeding syndrome with epistaxis and easy bruising. Laboratory studies showed mildly decreased VWF antigen levels, normal multimers, and severely decreased VWF functional activity. Factor VIII was mildly decreased and platelet counts were normal.
### Von Willebrand Disease Type 2N
The mutant VWF protein in VWD type 2N shows markedly decreased binding affinity for factor VIII, and this may be confused with mild hemophilia A (306700) (Sadler et al., 2006). The phenotype is characterized by a disproportionate decrease in F8 compared to VWF:Ag. VWD type 2N usually shows autosomal recessive inheritance (Sadler et al., 2006). Gaucher et al. (1991) noted that the phenotype resembled hemophilia A, or F8 deficiency, but showed autosomal recessive instead of X-linked inheritance.
Mazurier et al. (1990) reported a 50-year-old French woman, born of consanguineous parents, with VWD type 2N (previously designated the 'Normandy' variant). She had a lifelong history of excessive bleeding, and laboratory data showed decreased factor VIII, subnormal bleeding time, and normal VWF multimers. VWF isolated from patient plasma was unable to bind factor VIII. Lopez-Fernandez et al. (1992) described a brother and sister with VWD characterized by abnormal binding of von Willebrand factor to factor VIII. They were presumably homozygous for a recessive VWF defect. Hilbert et al. (2004) reported 2 unrelated French patients with VWD type 2N. Both were adults with lifelong histories of mucocutaneous bleeding and menorrhagia. Laboratory studies showed a dramatic decrease in VWF F8-binding capacity.
### Von Willebrand Disease Type 2CB
Riddell et al. (2009) proposed a new subtype of VWF characterized by clinically significant bleeding episodes due to a mutant VWF protein with defective collagen binding, termed 'VWF 2CB.' Laboratory studies showed normal values of VWF:RCo to VWF:Ag (RCo:Ag), normal VWF multimer analysis, and normal ristocetin-induced platelet aggregation, but markedly reduced ratios of VWF collagen-binding activity to VWF antigen (CB:Ag) against type III collagen and type I collagen. Riddell et al. (2009) concluded that the defect was distinct from VWF type 2M, in that type 2M is also characterized by impaired binding to platelet GP1BA and can show a full range of associated VWF multimers.
Other Features
An association between aortic stenosis and hemorrhage from gastrointestinal angiodysplasia has long been recognized. Remarkably, aortic valve replacement, rather than bowel resection, corrects the bleeding. Warkentin et al. (1992) pointed out that aortic stenosis can be complicated by acquired von Willebrand disease type 2A which is corrected by valve replacement, and hypothesized that acquired VWD was the link. They suggested that in patients with aortic stenosis there is an accelerated clearance of the largest VWF multimers as a result of accelerated platelet/VWF interactions in blood flowing through the stenotic aortic valve.
Chey et al. (1992) described gastric angiodysplasia in association with type 2B VWD. Endoscopic electrocautery performed acutely and followed by long-term estrogen/progesterone therapy was accompanied by no recurrence of bleeding during 11 months of follow-up. Lavabre-Bertrand et al. (1994) corroborated the usefulness of estrogen-progesterone therapy for the bleeding of digestive angiodysplasia on the basis of observations in a 59-year-old man with VWD and life-threatening digestive bleeding.
Clinical Management
Von Willebrand disease is often treated with the vasopressin analog desmopressin acetate (1-desamino-8-D-arginine vasopressin; dDAVP), which raises the level of factor VIII/von Willebrand factor in plasma. Holmberg et al. (1983) showed that dDAVP is contraindicated in type 2B VWD because it produces thrombocytopenia in such patients by release of an abnormal factor VIII/von Willebrand factor with platelet-aggregating properties.
Hall et al. (1987) described 3 monoclonal antibodies produced against von Willebrand factor antigen by conventional hybridoma technique. These antibodies inhibited factor VIII ristocetin cofactor activity but did not inhibit factor VIII coagulant activity. Hall et al. (1987) found that the antibodies were useful in differentiating types 1 and 2 VWD. Since desmopressin may be ineffective or even contraindicated in treating patients with type 2 VWD, the differentiation is of clinical importance.
In a review of VWD type 2N, Mazurier (1992) stated that the deficiency of factor VIII could be corrected by infusion of a VWF concentrate almost devoid of factor VIII coagulant activity, and that this treatment was more effective than infusion of factor VIII itself.
Riddell et al. (2009) noted that patients with VWF type 2CB, which is characterized by clinically significant bleeding episodes due to a mutant VWF protein with defective collagen binding, show good functional response to treatment with DDAVP. DDAVP causes a rise in VWF:CB resulting from an overall increase in the amount of circulating VWF, even though the qualitative defect in collagen binding remains.
Mapping
Verweij et al. (1988) used RFLPs to demonstrate that the mutation in von Willebrand disease type 2A is in the gene for von Willebrand factor on chromosome 12p13.
Molecular Genetics
### Von Willebrand Disease Type 2A
Mutations causing the enhanced proteolysis phenotype lie within or near domain A2 (exon 28) of the VWF gene, which is the site of the ADAMTS13 (604134) cleavage sequence between residues tyr1605 and met1606. Mutations interfering with multimerization occur in regions involved in dimer or multimer assembly, such as the VWF propeptide, the N-terminal D3 domain, the A2 domain, and the C terminus (James and Lillicrap, 2008).
In affected members of a family with von Willebrand disease type 2A, Iannuzzi et al. (1991) identified a 4883T-C heterozygous mutation in the VWF (I865T; 613160.0001). The I865R substitution was located immediately adjacent to 2 other previously identified mutations that also result in type 2A von Willebrand disease (R834W, 613160.0002 and V844D, 613160.0003; Ginsburg et al., 1989), suggesting a clustering for these mutations in a portion of the protein critical for proteolysis.
Dent et al. (1990) noted that the I865T, R834W, and V844D mutations are located within a 32-amino acid segment in the midportion of the 2,813-amino acid VWF coding sequence. Type 2A von Willebrand disease is characterized by normal or only moderately decreased levels of von Willebrand factor, the absence of large and intermediate VWF multimers, and increased VWF proteolysis with an increase in the plasma levels of the 176-kD VWF proteolytic fragment. The ADAMTS13 (604134) proteolytic-cleavage site is located between tyr842 and met843 (numbering based on the mature protein).
### Von Willebrand Disease Type 2A/IIE
Schneppenheim et al. (2010) reported a high frequency (29%) of VWD type 2A subtype IIE among patients with type 2A studied in their laboratory. Type IIE is associated with a reduction of high molecular weight (HMW) VWF multimers and a lack of outer proteolytic bands on gel electrophoresis, indicating reduced proteolysis. Genetic analysis of 38 such index cases identified 22 different mutations in the VWF gene, most of them affecting cysteine residues clustered in the D3 domain. The most common mutation was Y1146C (613160.0039), which was found in 12 (32%) probands. In vitro expression studies indicated that the Y1146C-mutant protein caused a severe reduction in or lack of HMW monomers and decreased secreted VWF antigen levels. However, clinical symptoms were heterogeneous among carriers, ranging from mild to severe bleeding. Schneppenheim et al. (2010) suggested that several mechanisms likely act in concert to produce subtype IIE, including decreased secretion of VWF, the change of a cysteine residue which may impact multimerization, and decreased half-life of the mutant protein. Altered ADAMTS13-mediated proteolysis did not appear to be a major primary factor.
### Von Willebrand Disease Type 2B
Mutations causing VWD type 2B tend to cluster within or near the A1 domain of the VWF gene, which mediates platelet GP1BA (606672) binding. The mutations appear to enhance platelet binding of VWF by stabilizing the bound conformation (Sadler et al., 2006).
In patients with VWD type 2B, Randi et al. (1991) identified 3 different heterozygous mutations in exon 28 of the VWF gene (613160.0005-613160.0007) within the domain that interacts with platelet glycoprotein GP1BA, resulting in a loss of function. Patient plasma showed a decrease in large VWF multimers due to spontaneous binding of VWF to platelets and subsequent clearance from the circulation. The region of VWF that binds to GP1BA has been localized to a peptide including amino acids 480 to 718 of the mature subunit that is encoded by exon 28.
In affected members of a Swedish family (Holmberg et al., 1986) and a German family with a variant of VWD type 2B, Holmberg et al. (1993) identified a heterozygous mutation in the VWF gene (P1266L; 613160.0033). The phenotype was unique in that there was a mild bleeding disorder, and laboratory studies showed that platelets aggregated at much lower ristocetin concentrations than normal.
### Von Willebrand Disease Type 2M
In a French mother and son with VWD type 2M, Stepanian et al. (2003) identified a heterozygous mutation in the VWF gene (S1285F; 613160.0030) that altered the folding of the A1 loop and prevented the correct exposure of VWF binding sites to GP1BA. The findings were consistent with a loss of function.
### Von Willebrand Disease Type 2N
Mutations that cause VWD type 2N usually occur in the F8-binding site of VWF, which lies between ser764 and arg1035. However, mutations outside of this region have also been reported (Hilbert et al., 2004).
In a 50-year-old French woman with VWD type 2N reported by Mazurier et al. (1990), Gaucher et al. (1991) identified a homozygous mutation in the VWF gene (T28M in the mature subunit; 613160.0011).
Mazurier et al. (2002) reported a 20-year-old French woman with VWD type 2N who was compound heterozygosity for 2 mutations in the VWF gene (Y357X, 613160.0035 and C1060R, 613160.0036). She had very low levels of VWF and F8, and absent binding of VWF to F8. Clinical features included epistaxis, hematomas, and hematemesis throughout childhood. The diagnosis was complicated at first because 2 male first cousins had F8 deficiency (306700) due to a hemizygous mutation in the F8 gene (C179G; 300841.0268).
Hilbert et al. (2004) reported 2 unrelated French patients with type 2N VWD who were compound heterozygous for R854Q (613160.0013) and another pathogenic mutation (Y795C, 613160.0031 and C804F, 613160.0032, respectively).
### Von Willebrand Disease Type 2CB
In affected members of 2 unrelated families with von Willebrand disease type 2CB, Riddell et al. (2009) identified heterozygous mutations in the collagen-binding A3 domain of the VWF gene (W1745C; 613160.0040 and S1783A; 613160.0042, respectively). The authors noted that VWD type 2M is associated with mutations in the A1 domain of VWF.
Animal Model
Rayes et al. (2010) and Golder et al. (2010) independently developed mouse models of VWD type 2B that recapitulated the human phenotype.
INHERITANCE \- Autosomal dominant \- Autosomal recessive HEAD & NECK Nose \- Epistaxis SKIN, NAILS, & HAIR Skin \- Easy bruising HEMATOLOGY \- Prolonged bleeding due to a qualitative defect in the VWF protein \- Defect in platelet aggregation \- Mucocutaneous bleeding \- Menorrhagia \- Patients with type 2B develop thrombocytopenia LABORATORY ABNORMALITIES \- Decreased levels of plasma factor VIII in patients with type 2N MISCELLANEOUS \- There are several subtypes \- Variable severity \- Most types show autosomal dominant inheritance \- Type 2N shows autosomal recessive inheritance \- Type 2A is characterized by deficiency of high molecular weight monomers \- Type 2B is characterized by increased affinity for platelet glycoprotein 1B \- Type 2M is characterized by decreased platelet adhesion in the presence of high molecular weight monomers \- Type 2N is characterized by decreased binding affinity for factor VIII \- Type 2CB is characterized by defective binding affinity for collagen types I and III MOLECULAR BASIS \- Caused by mutation in the von Willebrand factor gene (VWF, 613160.0001 ) ▲ Close
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*[AA]: Adrenergic agonist
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*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
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*[EUA]: emergency use authorization
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*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
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*[transl.]: translation
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VON WILLEBRAND DISEASE, TYPE 2
|
c1264040
| 27,739 |
omim
|
https://www.omim.org/entry/613554
| 2019-09-22T15:58:18 |
{"doid": ["0060574"], "mesh": ["D056728"], "omim": ["613554"], "orphanet": ["166081", "166087", "903", "166084", "166090", "166093"], "synonyms": ["Alternative titles", "VON WILLEBRAND DISEASE, TYPE II", "VWD, TYPE 2"], "genereviews": ["NBK7014"]}
|
For other uses, see Amusia (disambiguation).
Amusia
SpecialtyNeurology
Amusia is a musical disorder that appears mainly as a defect in processing pitch but also encompasses musical memory and recognition.[1] Two main classifications of amusia exist: acquired amusia, which occurs as a result of brain damage, and congenital amusia, which results from a music-processing anomaly present since birth.
Studies have shown that congenital amusia is a deficit in fine-grained pitch discrimination and that 4% of the population suffers from this disorder.[2] Acquired amusia, on the other hand, may take several forms. Patients with brain damage may experience the loss of ability to produce musical sounds while sparing speech,[3] much like aphasics lose speech selectively but can sometimes still sing.[4][5] Other forms of amusia may affect specific sub-processes of music processing. Current research has demonstrated dissociations between rhythm, melody, and emotional processing of music,[6] and amusia may include impairment of any combination of these skill sets.
## Contents
* 1 Signs and symptoms
* 1.1 Social and emotional
* 1.2 Related diseases
* 2 Diagnosis
* 2.1 Classifications
* 2.1.1 Congenital amusia
* 2.1.2 Acquired amusia
* 3 Neuroanatomy
* 3.1 Pitch relations
* 3.2 Temporal relations
* 3.3 Memory
* 3.4 Other regions of the brain possibly linked to amusia
* 4 History
* 5 Treatment
* 6 Research
* 7 Notable cases
* 8 In fiction
* 9 See also
* 10 References
* 11 Further reading
* 12 External links
## Signs and symptoms[edit]
Symptoms of amusia are generally categorized as receptive, clinical, or mixed. Symptoms of receptive amusia, sometimes referred to as "musical deafness" or "tone deafness",[7] include the inability to recognize familiar melodies, the loss of ability to read musical notation, and the inability to detect wrong or out-of tune notes.[8] Clinical, or expressive, symptoms include the loss of ability to sing, write musical notation, and/or play an instrument.[9] A mixed disorder is a combination of expressive and receptive impairment.
Clinical symptoms of acquired amusia are much more variable than those of congenital amusia and are determined by the location and nature of the lesion.[8] Brain injuries may afflict motor or expressive functioning, including the ability to sing, whistle, or hum a tune (oral-expressive amusia), the ability to play an instrument (instrumental amusia or musical apraxia), and the ability to write music (musical agraphia). Additionally, brain damage to the receptive dimension affects the faculty to discriminate tunes (receptive or sensorial amusia), the ability to read music (musical alessia), and the ability to identify songs that were familiar prior to the brain damage (amnesic amusia).[citation needed]
Research suggests that patients with amusia also have difficulty when it comes to spatial processing.[10] Amusics performed more quickly than normal individuals on a combined task of both spatial and musical processing tasks, which is most likely due to their deficit. Normal individuals experience interference due to their intact processing of both musical and spatial tasks, while amusics do not.[10] Pitch processing normally depends on the cognitive mechanisms that are usually used to process spatial representations.[10]
Those with congenital amusia show impaired performance on discrimination, identification and imitation of sentences with intonational differences in pitch direction in their final word. This suggests that amusia can in subtle ways impair language processing.[11]
### Social and emotional[edit]
Amusic individuals have a remarkable sparing of emotional responses to music in the context of severe and lifelong deficits in processing music.[12] Some sufferers of amusia describe music as unpleasant. Others simply refer to it as noise and find it annoying.[citation needed] This can have social implications because amusics often try to avoid music, which in many social situations is not an option.
In China and other countries where tonal languages are spoken, amusia may have a more pronounced social and emotional impact: difficulty in speaking and understanding the language.[13] However, context clues are often strong enough to determine the correct meaning, similarly to how homophones can be understood.[14]
### Related diseases[edit]
Main article: Music-specific disorders
Amusia has been classified as a learning disability that affects musical abilities.[15] Research suggests that in congenital amusia, younger subjects can be taught tone differentiation techniques. This finding leads researchers to believe that amusia is related to dyslexia and other similar disorders.[16] Research has been shown that amusia may be related to an increase in size of the cerebral cortex, which may be a result of a malformation in cortical development. Conditions such as dyslexia and epilepsy are due to a malformation in cortical development and also lead to an increase in cortical thickness, which leads researchers to believe that congenital amusia may be caused by the identical phenomenon in a different area of the brain.[17]
Amusia is also similar to aphasia in that they affect similar areas of the brain near the temporal lobe. Most cases of those with amusia do not show any symptoms of aphasia. However, a number of cases have shown that those who have aphasia can exhibit symptoms of amusia, especially in acquired aphasia. The two are not mutually exclusive and having one does not imply possession of the other.[15] In acquired amusia, inability to perceive music correlates with an inability to perform other higher-level functions. In this case, as musical ability improves, so too do the higher cognitive functions which suggests that musical ability is closely related to these higher-level functions, such as memory and learning, mental flexibility, and semantic fluency.[18]
Amusia can also be related to aprosody, a disorder in which the sufferer's speech is affected, becoming extremely monotonous. It has been found that both amusia and aprosody can arise from seizures occurring in the non-dominant hemisphere. They can also both arise from lesions to the brain, as can Broca's aphasia come about simultaneously with amusia from injury. There is a relation between musical abilities and the components of speech, however, it not understood very well.[19]
## Diagnosis[edit]
The diagnosis of amusia requires multiple investigative tools all described in the Montreal Protocol for Identification of Amusia.[20] This protocol has at its center the Montreal Battery of Evaluation of Amusia (MBEA),[21] which involves a series of tests that evaluate the use of musical characteristics known to contribute to the memory and perception of conventional music,[22] but the protocol also allow for the ruling out of other conditions that can explain the clinical signs observed. The battery comprises six subtests which assess the ability to discriminate pitch contour, musical scales, pitch intervals, rhythm, meter, and memory.[2] An individual is considered amusic if they perform two standard deviations below the mean obtained by musically-competent controls.
This musical pitch disorder represents a phenotype that serves to identify the associated neuro-genetic factors.[7] Both MRI-based brain structural analyses and electroencephalography (EEG) are common methods employed to uncover brain anomalies associated with amusia (See Neuroanatomy).[23] Additionally, voxel-based morphometry (VBM) is used to detect anatomical differences between the MRIs of amusic brains and musically intact brains, specifically with respect increased and/or decreased amounts of white and grey matter.[23]
### Classifications[edit]
There are two general classifications of amusia: congenital amusia and acquired amusia.
#### Congenital amusia[edit]
"Tone Deaf" and "Tone deaf" redirect here. For the film, see Tone-Deaf.
Congenital amusia, commonly known as tone deafness,[7] refers to a musical disability that cannot be explained by prior brain lesion, hearing loss, cognitive defects, or lack of environmental stimulation,[22] and it affects about 4% of the population.[2] Individuals who suffer from congenital amusia seem to lack the musical predispositions with which most people are born.[24] They are unable to recognize or hum familiar tunes even if they have normal audiometry and above-average intellectual and memory skills. Also, they do not show sensitivity to dissonant chords in a melodic context, which, as discussed earlier, is one of the musical predispositions exhibited by infants. The hallmark of congenital amusia is a deficit in fine-grained pitch discrimination, and this deficit is most apparent when congenital amusics are asked to pick out a wrong note in a given melody.[2] If the distance between two successive pitches is small, congenital amusics are not able to detect a pitch change. As a result of this defect in pitch perception, a lifelong musical impairment may emerge due to a failure to internalize musical scales. A lack of fine-grained pitch discrimination makes it extremely difficult for amusics to enjoy and appreciate music, which consists largely of small pitch changes.[24]
Tone-deaf people seem to be disabled only when it comes to music as they can fully interpret the prosody or intonation of human speech. Tone deafness has a strong negative correlation with belonging to societies with tonal languages.[citation needed] This could be evidence that the ability to reproduce and distinguish between notes may be a learned skill; conversely, it may suggest that the genetic predisposition towards accurate pitch discrimination may influence the linguistic development of a population towards tonality. A correlation between allele frequencies and linguistic typological features has been recently discovered, supporting the latter hypothesis.[25]
Tone deafness is also associated with other musical-specific impairments such as the inability to keep time with music (beat deafness, or the lack of rhythm), or the inability to remember or recognize a song. These disabilities can appear separately, but some research shows that they are more likely to appear in tone-deaf people.[26] Experienced musicians, such as W. A. Mathieu, have addressed tone deafness in adults as correctable with training.[27]
#### Acquired amusia[edit]
Acquired amusia is a musical disability that shares the same characteristics as congenital amusia, but rather than being inherited, it is the result of brain damage.[18] It is also more common than congenital amusia.[18] While it has been suggested that music is processed by music-specific neural networks in the brain, this view has been broadened to show that music processing also encompasses generic cognitive functions, such as memory, attention, and executive processes.[18] A recent study was conducted to investigate the neural and cognitive mechanisms that underlie acquired amusia and contribute to its recovery.[18] The study was performed on 53 stroke patients with a left or right hemisphere middle cerebral artery (MCA) infarction one week, three months, and six months after the stroke occurred.[18] Amusic subjects were identified one week following their stroke, and over the course of the study, amusics and non-amusics were compared in both brain lesion location and their performances on neuropsychological tests.
Results showed that there was no significant difference in the distribution of left and right hemisphere lesions between amusic and non-amusic groups, but that the amusic group had a significantly higher number of lesions to the frontal lobe and auditory cortex.[18] Temporal lobe lesions were also observed in patients with amusia. Amusia is a common occurrence following an ischemic MCA stroke, as evidenced by the 60% of patients who were found to be amusic at the one-week post-stroke stage.[18] While significant recovery takes place over time, amusia can persist for long periods of time.[18] Test results suggest that acquired amusia and its recovery in the post-stroke stage are associated with a variety of cognitive functions, particularly attention, executive functioning, and working memory.[18]
## Neuroanatomy[edit]
Neurologically intact individuals appear to be born musical. Even before they are able to talk, infants show remarkable musical abilities that are similar to those of adults in that they are sensitive to musical scales and a regular tempo.[2] Also, infants are able to differentiate between consonant and dissonant intervals. These perceptual skills indicate that music-specific predispositions exist.[2]
Prolonged exposure to music develops and refines these skills. Extensive musical training does not seem to be necessary in the processing of chords and keys.[2] The development of musical competence most likely depends on the encoding of pitch along musical scales and maintaining a regular pulse, both of which are key components in the structure of music and aid in perception, memory, and performance.[2] Also, the encoding of pitch and temporal regularity are both likely to be specialized for music processing.[2] Pitch perception is absolutely crucial to processing music. The use of scales and the organization of scale tones around a central tone (called the tonic) assign particular importance to notes in the scale and cause non-scale notes to sound out of place. This enables the listener to ascertain when a wrong note is played. However, in individuals with amusia, this ability is either compromised or lost entirely.[2]
Music-specific neural networks exist in the brain for a variety of music-related tasks. It has been shown that Broca's area is involved in the processing of musical syntax.[28] Furthermore, brain damage can disrupt an individual's ability to tell the difference between tonal and atonal music and detect the presence of wrong notes, but can preserve the individual's ability to assess the distance between pitches and the direction of the pitch.[2] The opposite scenario can also occur, in which the individual loses pitch discrimination capabilities, but can sense and appreciate the tonal context of the work. Distinct neural networks also exist for music memories, singing, and music recognition. Neural networks for music recognition are particularly intriguing. A patient can undergo brain damage that renders them unable to recognize familiar melodies that are presented without words. However, the patient maintains the ability to recognize spoken lyrics or words, familiar voices, and environmental sounds.[2] The reverse case is also possible, in which the patient cannot recognize spoken words, but can still recognize familiar melodies. These situations overturn previous claims that speech recognition and music recognition share a single processing system.[2] Instead, it is clear that there are at least two distinct processing modules: one for speech and one for music.[2]
Many research studies of individuals with amusia show that a number of cortical regions appear to be involved in processing music. Some report that the primary auditory cortex, secondary auditory cortex, and limbic system are responsible for this faculty, while more recent studies suggest that lesions in other cortical areas, abnormalities in cortical thickness, and deficiency in neural connectivity and brain plasticity may contribute to amusia. While various causes of amusia exist, some general findings that provide insight to the brain mechanisms involved in music processing are discussed below.[8]
### Pitch relations[edit]
Studies suggest that the analysis of pitch is primarily controlled by the right temporal region of the brain. The right secondary auditory cortex processes pitch change and manipulation of fine tunes; specifically, this region distinguishes the multiple pitches that characterize melodic tunes as contour (pitch direction) and interval (frequency ratio between successive notes) information.[29] The right superior temporal gyrus recruits and evaluates contour information, while both right and left temporal regions recruit and evaluate interval information.[30] In addition, the right anterolateral part of Heschl's gyrus (primary auditory cortex) is also concerned with processing pitch information.[31]
### Temporal relations[edit]
The brain analyzes the temporal (rhythmic) components of music in two ways: (1) it segments the ongoing sequences of music into temporal events based on duration, and (2) it groups those temporal events to understand the underlying beat to music. Studies on rhythmic discrimination reveal that the right temporal auditory cortex is responsible for temporal segmenting, and the left temporal auditory cortex is responsible for temporal grouping.[32][33] Other studies suggest the participation of motor cortical areas in rhythm perception and production.[34] Therefore, a lack of involvement and networking between bilateral temporal cortices and neural motor centers may contribute to both congenital and acquired amusia.[8]
### Memory[edit]
Memory is required in order to process and integrate both melodic and rhythmic aspects of music. Studies suggest that there is a rich interconnection between the right temporal gyrus and frontal cortical areas for working memory in music appreciation.[35][36] This connection between the temporal and frontal regions of the brain is extremely important since these regions play critical roles in music processing. Changes in the temporal areas of the amusic brain are most likely associated with deficits in pitch perception and other musical characteristics, while changes in the frontal areas are potentially related to deficits in cognitive processing aspects, such as memory, that are needed for musical discrimination tasks.[18] Memory is also concerned with the recognition and internal representation of tunes, which help to identify familiar songs and confer the ability to sing tunes in one's head. The activation of the superior temporal region and left inferior temporal and frontal areas is responsible for the recognition of familiar songs,[30] and the right auditory cortex (a perceptual mechanism) is involved in the internal representation of tunes.[37] These findings suggest that any abnormalities and/or injuries to these regions of the brain could facilitate amusia.
### Other regions of the brain possibly linked to amusia[edit]
* Lesions (or the absence of) in associations between the right temporal lobe and inferior frontal lobe. In nine of ten tone-deaf people, the superior arcuate fasciculus in the right hemisphere could not be detected, suggesting a disconnection between the posterior superior temporal gyrus and the posterior inferior frontal gyrus. Researchers suggested the posterior superior temporal gyrus was the origin of the disorder.[38]
* Cortical thickness and reduced white matter – in a recent study, voxel-based morphometry, an imaging technique used to explore structural differences in the brain, revealed a decrease in white matter concentration in the right inferior frontal gyrus of amusic individuals as compared to controls.[39] Lack of extensive exposure to music could be a contributing factor to this white matter reduction.[39] For example, amusic individuals may be less inclined to listen to music than others, which could ultimately cause reduced myelination of connections to the frontal areas of the brain.[39]
* Involvement of the parahippocampal gyrus (responsible for the emotional reaction to music)[8]
## History[edit]
In 1825, F. Gall mentioned a "musical organ" in a specific region of the human brain that could be spared or disrupted after a traumatic event resulting in brain damage.[40] In 1865, Jean-Baptiste Bouillaud described the first series of cases that involved the loss of music abilities that were due to brain injury. Later, during the late nineteenth-century, several influential neurologists studied language in an attempt to construct a theory of cognition. While not studied as thoroughly as language, music and visual processing were also studied. In 1888–1890, August Knoblauch produced a cognitive model for music processing and termed it amusia. This model for music processing was the earliest produced.[41]
While the possibility that certain individuals may be born with musical deficits is not a new notion, the first documented case of congenital amusia was published relatively recently.[22] The study was conducted with a female volunteer, referred to as Monica, who declared herself to be musically impaired in response to an advertisement in the newspaper.[22] Monica had no psychiatric or neurological history, nor did she have any hearing loss. MRI scans showed no abnormalities. Monica also scored above average on a standard intelligence test, and her working memory was evaluated and found to be normal. However, Monica suffered from a lifelong inability to recognize or perceive music, which had persisted even after involvement with music through church choir and band during her childhood and teenage years.[22] Monica said that she does not enjoy listening to music because, to her, it sounded like noise and evoked a stressful response.
In order to determine if Monica's disorder was amusia, she was subjected to the MBEA series of tests. One of the tests dealt with Monica's difficulties in discriminating pitch variations in sequential notes. In this test, a pair of melodies was played, and Monica was asked if the second melody in the pair contained a wrong note.[22] Monica's score on this test was well below the average score generated by the control group.[22] Further tests showed that Monica struggled with recognizing highly familiar melodies, but that she had no problems in recognizing the voices of well-known speakers. Thus, it was concluded that Monica's deficit seemed limited to music.[22] A later study showed that not only do amusics experience difficulty in discriminating variations in pitch, but they also exhibit deficits in perceiving patterns in pitch.[42]
This finding led to another test that was designed to assess the presence of a deficiency in pitch perception.[22] In this test, Monica heard a sequence of five piano tones of constant pitch followed by a comparison sequence of five piano tones in which the fourth tone could be the same pitch as the other notes in the sequence or a completely different pitch altogether. Monica was asked to respond "yes" if she detected a pitch change on the fourth tone or respond "no" if she could not detect a pitch change. Results showed that Monica could barely detect a pitch change as large as two semitones (whole tone), or half steps.[22] While this pitch-processing deficit is extremely severe, it does not seem to include speech intonation.[22] This is because pitch variations in speech are very coarse compared with those used in music.[2] In conclusion, Monica's learning disability arose from a basic problem in pitch discrimination, which is viewed as the origin of congenital amusia.[22]
## Treatment[edit]
Currently, no forms of treatment have proven effective in treating amusia. One study has shown tone differentiation techniques to have some success, however future research on treatment of this disorder will be necessary to verify this technique as an appropriate treatment.[15]
## Research[edit]
Over the past decade, much has been discovered about amusia. However, there remains a great deal more to learn. While a method of treatment for people with amusia has not been defined, tone differentiation techniques have been used on amusic patients with some success. It was found with this research that children reacted positively to these tone differentiation techniques, while adults found the training annoying.[15] However, further research in this direction would aid in determining if this would be a viable treatment option for people with amusia. Additional research can also serve to indicate which processing component in the brain is essential for normal music development.[22] Also, it would be extremely beneficial to investigate musical learning in relation to amusia since this could provide valuable insights into other forms of learning disabilities such as dysphasia and dyslexia.[43][22]
## Notable cases[edit]
* Alfonso XIII of Spain[44]
* Franz Boas[45]
* William Lawrence Bragg[46]
* Alfred Duff Cooper[47]
* Charles Darwin[48][dubious – discuss]
* John Dewey[49]
* Pope Francis[50]
* Ulysses S. Grant[51][52]
* Che Guevara[53][52]
* J. B. S. Haldane[54]
* W. D. Hamilton[55]
* Prince Henry, Duke of Gloucester[citation needed]
* Isabel Paterson[56]
* Theodore Roosevelt[52]
* William Butler Yeats[57]
## In fiction[edit]
* Horatio Hornblower
* Grace from Home on the Range
* James Fraser from Outlander by Diana Gabaldon
* Rodrigo from Mozart in the Jungle
## See also[edit]
* Absolute pitch, the human ability to name a musical note when played or sung (less common than relative pitch)
* Auditory agnosia
* Cognitive neuroscience of music
* Color blindness
* Musical aptitude
* Relative pitch, the human ability to accurately distinguish pitch intervals (more common than absolute pitch)
* Synesthesia
* Tonal memory
## References[edit]
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2. ^ a b c d e f g h i j k l m n o Peretz I, Hyde KL (2003). "What is specific to music processing? Insights from congenital amusia." [Review]". Trends in Cognitive Sciences. 7 (8): 362–67. CiteSeerX 10.1.1.585.2171. doi:10.1016/s1364-6613(03)00150-5. PMID 12907232. S2CID 3224978.
3. ^ Peretz I, Zatorre R (2005). "Brain Organization for Music Processing". Annual Review of Psychology. 56: 89–114. doi:10.1146/annurev.psych.56.091103.070225. PMID 15709930.
4. ^ Hébert S, Racette A, Gagnon L, Peretz I (2003). "Revisiting the dissociation between singing and speaking in expressive aphasia". Brain. 126 (8): 1838–50. doi:10.1093/brain/awg186. PMID 12821526. Archived from the original on 21 July 2012. Retrieved 17 June 2009.
5. ^ Dorgueille, C. 1966. Introduction à l'étude des amusies. Unpublished doctoral dissertation, Université de la Sorbonne, Paris.
6. ^ Sacks, Oliver. (2007). Musicophilia, New York: Random House. pp. 3–17, 187–258, 302–03.
7. ^ a b c Peretz I, Cummings S, Dube MP (2007). "The genetics of congenital amusia (tone deafness): A family-aggregation study." [Article]". American Journal of Human Genetics. 81 (3): 582–88. doi:10.1086/521337. PMC 1950825. PMID 17701903.
8. ^ a b c d e http://amusia-brain.blogspot.com/2008/02/definition_25.html Hutchings, Tiffany, Seth Hayden, Mandy Politziner, and Erina Kainuma. "Amusia." Web log post. Amusia: Definition, Welcome to Amusia..., Congenital and Acquired Amusia, Neural Overview. 25 February 2008. Web. 10 October 2009.
9. ^ Bautista R, Ciampetti M (2003). "Expressive Aprosody and Amusia as a Manifestation of Right Hemisphere Seizures". Epilepsia. 44 (3): 466–67. doi:10.1046/j.1528-1157.2003.36502.x. PMID 12614406.
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13. ^ Tillmann, Barbara; Burnham, Denis; Nguyen, Sebastien; Grimault, Nicolas; Gosselin, Nathalie; Peretz, Isabelle (2011). "Congenital Amusia (or Tone-Deafness) Interferes with Pitch Processing in Tone Languages". Frontiers in Psychology. 2. doi:10.3389/fpsyg.2011.00120. ISSN 1664-1078.
14. ^ "WonderQuest: Tonal languages for the tone-deaf [or A horse is a hoarse of course of coarse], An Enterprising question". web.archive.org. 13 February 2006. Retrieved 8 November 2020.
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16. ^ Peretz, Isabelle; Brattico, Elvira; Tervaniemi, Mari (2002). "Abnormal Electrical Brain Responses to Pitch in Congenital Amusia". Annals of Neurology. 58 (3): 478–82. CiteSeerX 10.1.1.598.544. doi:10.1002/ana.20606. PMID 16130110. S2CID 7866573.
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20. ^ Vuvan, D. T.; Paquette, S.; Mignault Goulet, G.; Royal, I.; Felezeu, M.; Peretz, I. (1 June 2018). "Erratum to: The Montreal Protocol for Identification of Amusia". Behavior Research Methods. 50 (3): 1308. doi:10.3758/s13428-017-0941-3. ISSN 1554-3528. PMID 28718085.
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25. ^ Dediu, Dan; Ladd, D. Robert (June 2007). "Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin". Proceedings of the National Academy of Sciences. 104 (26): 10944–49. Bibcode:2007PNAS..10410944D. doi:10.1073/pnas.0610848104. PMC 1904158. PMID 17537923.
26. ^ Ayotte, Julie; Peretz, Isabelle; Hyde, Krista (February 2002). "Congenital amusia: a group study of adults afflicted with a music-specific disorder". Brain. 125 (2): 238–51. doi:10.1093/brain/awf028. PMID 11844725. Retrieved 18 July 2008.
27. ^ Mathieu, W. A. "Tone-Deaf Choir". Retrieved 26 February 2009.
28. ^ Burkhard Maess, Stefan Koelsch, Thomas C. Gunter and Angela D. Friederici. "Musical syntax is processed in Broca’s area: an MEG study" (2001) Nature Publishing Group.
29. ^ Zatorre RJ, Berlin P (2001). "Spectral and temporal processing in human auditory cortex". Cerebral Cortex. 11 (10): 946–53. doi:10.1093/cercor/11.10.946. PMID 11549617.
30. ^ a b Ayotte J, Peretz I, Rousseau I, Bard C, Bojanowski M (2000). "Patterns of music agnosia associated with middle cerebral artery infarcts". Brain. 123 (9): 1926–38. doi:10.1093/brain/123.9.1926. PMID 10960056.
31. ^ Tramo M, Shah GD, Braida LD (2002). "Functional role of auditory cortex in frequency processing and pitch perception". Journal of Neurophysiology. 87 (1): 122–39. CiteSeerX 10.1.1.588.2041. doi:10.1152/jn.00104.1999. PMID 11784735.
32. ^ DiPietro M, Laganaro M, Leeman B, Schnider A (2004). "Receptive amusia: temporal auditory deficit in a processional musician following a left temporo-parietal lesion". Neuropsychologia. 42 (7): 868–977. doi:10.1016/j.neuropsychologia.2003.12.004. PMID 14998702. S2CID 18348937.
33. ^ Wilson SJ, Pressing J, Wales RJ (2002). "Modeling rhythmic function in a musician post-stroke". Neuropsychologia. 40 (8): 1494–505. CiteSeerX 10.1.1.511.1384. doi:10.1016/s0028-3932(01)00198-1. PMID 11931954. S2CID 16730354.
34. ^ Halsband U, Ito N, Tanji J, Freund HJ (1993). "The role of premotor cortex and the supplementary motor area in the temporal control of movement in man". Brain. 116: 243–46. doi:10.1093/brain/116.1.243. PMID 8453461.
35. ^ Zatorre RJ, Samson S (1991). "Role of the right temporal neocortex in retention of pitch in auditory short-term memory". Brain. 114 (6): 2403–17. doi:10.1093/brain/114.6.2403. PMID 1782523.
36. ^ Gaab, N., Gaser, C., Zaehle, T., Jancke, L., Schlaug, G. (2003). Functional anatomy of pitch memory-an fMRI study with sparse temoral sampling. NeuroLmage. 19:1417-1426.
37. ^ Zatorre RJ, Halpern R (1993). "Effect of unilateral temporal-lobe excision on percention and imagery of songs". Neuropsychologia. 31 (3): 221–32. doi:10.1016/0028-3932(93)90086-f. PMID 8492875. S2CID 19749696.
38. ^ Loui, P.; Alsop, D.; Schlaug, S. (2009). "Tone Deafness: A New Disconnection Syndrome?". Journal of Neuroscience. 29 (33): 10215–120. doi:10.1523/JNEUROSCI.1701-09.2009. PMC 2747525. PMID 19692596.
39. ^ a b c Hyde KL, Zatorre RJ, Griffiths TD, Lerch JP, Peretz I (2006). "Morphometry of the amusic brain: a two-site study." [Article]". Brain. 129 (10): 2562–70. doi:10.1093/brain/awl204. PMID 16931534.
40. ^ Alossa, Nicoletta; Castelli, Lorys, "Amusia and Musical Functioning", Eur Neurol, Vol. 61, No. 5, pp. 269–77 (2009)
41. ^ Johnson, Julene K (2003). "August Knoblauch and amusia: A nineteenth-century cognitive model of music". Brain and Cognition. 51 (1): 102–14. doi:10.1016/S0278-2626(02)00527-4. PMID 12633592. S2CID 46669189.
42. ^ Foxton JM, Dean JL, Gee R, Peretz I, Griffiths TD (2004). "Characterization of deficits in pitch perception underlying 'tone deafness'." [Article]". Brain. 127 (4): 801–10. doi:10.1093/brain/awh105. PMID 14985262.
43. ^ Ayotte J, Peretz I, Hyde K (2002). "Congenital amusia – A group study of adults afflicted with a music-specific disorder." [Article]". Brain. 125 (Pt 2): 238–51. doi:10.1093/brain/awf028. PMID 11844725.
44. ^ See Isaac Asimov's Book of Facts
45. ^ Marmon Silko, Leslie (1981). Storyteller, p. 254. Arcade. ISBN 1-55970-005-X. Boas encountered difficulty with tonal languages such as Laguna.
46. ^ Hunter, Graeme K.; Light is a messenger: the life and science of William Lawrence Bragg, p. 158. ISBN 0-19-852921-X
47. ^ Norwich, John Julius. The Duff Cooper Diaries 1915–1951. Phoenix, 2006, ISBN 978-0-7538-2105-3, p. 109.
48. ^ LaFee, Scott (9 February 2009). "Darwin's Legacy: Natural selections". The San Diego Union-Tribune. Archived from the original on 25 April 2009. Retrieved 10 February 2009.
49. ^ Zeltner, Philip N.; John Dewey's Aesthetic Philosophy, p. 93. ISBN 90-6032-029-8
50. ^ "Can't chant, can't speak English? Pope says it's because he's tone-deaf", Catholic News Service, 2 April 2013
51. ^ Sacks, Oliver; Musicophilia: Tales of Music and the Brain; p. 108 ISBN 1-4000-3353-5
52. ^ a b c Münte, Thomas (February 2002). "Brains out of Tune" (PDF). Nature. 415 (6872): 589–90. doi:10.1038/415589a. PMID 11832921. S2CID 4412665. Archived from the original (PDF) on 27 January 2012. Retrieved 12 February 2013.
53. ^ Baril, Daniel (12 April 1999). "Le cerveau musical". Forum. 33 (26). Université de Montréal. Retrieved 19 July 2008.
54. ^ Crow, James Franklin and Dove, William F.; Perspectives on genetics: anecdotal, historical, and critical commentaries, p. 254. ISBN 0-299-16604-X
55. ^ Hamilton, W. D. and Ridley, Mark; Narrow Roads of Gene Land: The Collected Papers of W. D. Hamilton Volume 3, p. 7. ISBN 0-19-856690-5
56. ^ Cox, Stephen (2004). The Woman and the Dynamo: Isabel Paterson and the Idea of America. New Brunswick, New Jersey, USA: Transaction Publishers, p. 85. ISBN 978-0-7658-0241-5.
57. ^ "The Life of W. B. Yeats". The New York Times.
## Further reading[edit]
* Kazez D (1985). "The myth of tone deafness". Music Educators Journal. 71 (8): 46–47. doi:10.2307/3396499. JSTOR 3396499. S2CID 144988256.
* Kleist, Karl (1962). Sensory aphasia and amusia; the myeloarchitectonic basis. Oxford: Pergamon Press. OCLC 1649635.
## External links[edit]
* Oliver Sacks discussing Amusia
* University of Newcastle: Musical Listening Test
* BBC: Listening Displeasure
* NPR: Test for tone deafness (requires RealAudio player)
* MedicineNet: Amusia
* NIH: Distorted Tunes Test
* The Listening Book: Tone-Deaf Choir audio description by W. A. Mathieu
* v
* t
* e
Music psychology
Areas
* Biomusicology
* Cognitive musicology
* Cognitive neuroscience of music
* Culture in music cognition
* Evolutionary musicology
* Psychoacoustics
Topics
* Absolute pitch
* Auditory illusion
* Auditory imagery
* Background music
* Consonance and dissonance
* Deutsch's scale illusion
* Earworm
* Embodied music cognition
* Entrainment
* Exercise and music
* Eye movement in music reading
* Franssen effect
* Generative theory of tonal music
* Glissando illusion
* Hedonic music consumption model
* Illusory continuity of tones
* Levitin effect
* Lipps–Meyer law
* Melodic expectation
* Melodic fission
* Mozart effect
* Music and emotion
* Music and movement
* Music in psychological operations
* Music preference
* Music-related memory
* Musical gesture
* Musical semantics
* Musical syntax
* Octave illusion
* Relative pitch
* Sharawadji effect
* Shepard tone
* Speech-to-song illusion
* Temporal dynamics of music and language
* Tonal memory
* Tritone paradox
Disorders
* Amusia
* Auditory arrhythmia
* Beat deafness
* Musical hallucinations
* Musician's dystonia
* Music-specific disorders
* Tone deafness
Related fields
* Aesthetics of music
* Bioacoustics
* Ethnomusicology
* Hearing
* Melodic intonation therapy
* Music education
* Music therapy
* Musical acoustics
* Musicology
* Neurologic music therapy
* Neuronal encoding of sound
* Performance science
* Philosophy of music
* Psychoanalysis and music
* Sociomusicology
* Systematic musicology
* Zoomusicology
Researchers
* Jamshed Bharucha
* Lola Cuddy
* Robert Cutietta
* Jane W. Davidson
* Irène Deliège
* Diana Deutsch
* Tuomas Eerola
* Henkjan Honing
* David Huron
* Nina Kraus
* Carol L. Krumhansl
* Fred Lerdahl
* Daniel Levitin
* Leonard B. Meyer
* Max Friedrich Meyer
* James Mursell
* Richard Parncutt
* Oliver Sacks
* Carl Seashore
* Max Schoen
* Roger Shepard
* John Sloboda
* Carl Stumpf
* William Forde Thompson
* Sandra Trehub
Books and journals
* Music Perception
* Musicae Scientiae (journal)
* Musicophilia
* Music, Thought, and Feeling
* Psychology of Music (journal)
* The World in Six Songs
* This Is Your Brain on Music
* v
* t
* e
Frequency and pitch
Notation
* Concert pitch
* A440
* Enharmonic
* Helmholtz pitch notation
* Letter notation
* Piano key frequencies
* Pitch class
* Scientific pitch notation
Perception
* Absolute pitch
* Ear training
* Pitch circularity
* Relative pitch
* Tonal memory
* Tone deafness
* Virtual pitch
See also
* Electronic tuner
* Mersenne's laws
* Microtuner
* Musical tuning
* Beating
* Pitch pipe
* Savart wheel
* Tuning fork
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
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*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
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*[DEN]: Denmark
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*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
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c0234497
| 27,740 |
wikipedia
|
https://en.wikipedia.org/wiki/Amusia
| 2021-01-18T18:57:30 |
{"umls": ["C0234497"], "wikidata": ["Q481787"]}
|
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
## Epidemiology
The syndrome has been described in four patients (three males and one female) from the same family.
## Clinical description
The male patients presented with the complete phenotype while the female patient suffered only from blindness.
## Etiology
No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes which are associated with other syndromes presenting similar clinical findings (i.e. Marfan syndrome; see this term).
## Genetic counseling
Transmission seems autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Blindness-scoliosis-arachnodactyly syndrome
|
c2676234
| 27,741 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171844
| 2021-01-23T18:46:54 |
{"mesh": ["C567309"], "omim": ["612445"], "umls": ["C2676234"]}
|
Nepal legalised abortion in March 2002, under the 11th Amendment to the Civil Code. The legal services was successfully implemented on December 25, 2003.[1] The high maternal mortality rates in Nepal lead to the government legalising it. More than 5,00,000[clarification needed] women sought abortion between 2004–2014.[2] In 2014, 323,100 women in Nepal had the abortion, among this only 42% abortions were legal and 19% were treated for abortion complications. Similar study had found the rate of unintended pregnancy as 50%.[3]
## Methods for Abortion[edit]
According to the services provided by the government, Women are allowed to choose between Manual Vacuum Aspiration (MVA) and Medical Abortion (MA) abortion procedures.
Manual Vacuum Aspiration: It is a moderately invasive procedure where cervical dilators are used and suction is applied to remove the pregnancy from the uterus.[4]
Medical Abortion: Medical Abortion is a method most often combining a series of two types of oral pills taken to terminate the pregnancy. The experience is similar to a miscarriage and many patients feel it is a less invasive option.[5]
## Abortion Law in Nepal[edit]
Prior to 2002, Nepal had strict anti-abortion laws which ensured not only the imprisonment of the pregnant women who seek abortion but also their family members. In fact about 20% of women prisoners were imprisoned for abortion-related choices.[6]
According to the law women had access to legal abortion only under the following conditions
· The pregnancy must be under 12 weeks of gestation. If the woman is above 16 years of age, she does not require the permission of her husband or her guardian.
· In the case of rape or incest, the pregnancy must be under 18 weeks of gestation.
· If recommended by the doctor, at any stage of the pregnancy if it poses danger to the physical or mental health of the pregnant woman or if the foetus suffers from severe physical deformity.[7]
## References[edit]
1. ^ Worrell, Marc. "Nepal: Abortion law". Women on Waves. Retrieved 2018-09-28.
2. ^ Bhandari, T. R.; Dangal, G. (2015-08-17). "Abortion Practices in Nepal: What does Evidence Show?". Nepal Journal of Obstetrics and Gynaecology. 10 (1): 3–11. doi:10.3126/njog.v10i1.13186. ISSN 1999-8546.
3. ^ Puri, Mahesh; Singh, Susheela; Sundaram, Aparna; Hussain, Rubina; Tamang, Anand; Crowell, Marjorie (2016). "Abortion Incidence and Unintended Pregnancy in Nepal". International Perspectives on Sexual and Reproductive Health. 42 (4): 197–209. doi:10.1363/42e2116. ISSN 1944-0391. JSTOR 10.1363/42e2116. PMC 5568822. PMID 28825899.
4. ^ "Vacuum Aspiration for Abortion | CS Mott Children's Hospital | Michigan Medicine". www.mottchildren.org. Retrieved 2018-09-28.
5. ^ "10 Things You Should Know about Abortion Service in Nepal". The ASAP Blog. 2015-08-24. Retrieved 2018-09-28.
6. ^ Wu, Wan-Ju; Maru, Sheela; Regmi, Kiran; Basnett, Indira (June 2017). "Abortion Care in Nepal, 15 Years after Legalization". Health and Human Rights. 19 (1): 221–230. ISSN 1079-0969. PMC 5473051. PMID 28630554.
7. ^ Worrell, Marc. "Nepal: Abortion law". Women on Waves. Retrieved 2018-09-28.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Abortion in Nepal
|
None
| 27,742 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_Nepal
| 2021-01-18T18:59:29 |
{"wikidata": ["Q59554966"]}
|
Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum.[1][failed verification] It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female.[2] The disorders that are usually coupled with a female who has vaginal atresia are Rokitansky-Mayer- Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome.[2] One out of every 5,000 women have this abnormality.[3]
## Contents
* 1 Symptoms and signs
* 2 Causes
* 2.1 Rokitansky-Mayer-Küster-Hauser syndrome
* 2.2 Bardet-Biedl Syndrome
* 2.3 Fraser Syndrome
* 2.4 McKusick-Kaufman syndrome
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 Prognosis
* 6.1 Rokitansky-Mayer-Küster-Hauser Syndrome
* 6.2 Bardet-Biedl Syndrome
* 7 References
## Symptoms and signs[edit]
Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia.[4] Symptoms for vaginal atresia include cyclical abdominal pain, the inability to start having menstrual cycles, a small pouch or dimple where a vaginal opening should be, and pelvic mass when the upper vagina becomes filled with menstrual blood.[2] Signs and symptoms of vaginal atresia or vaginal agenesis can often go unnoticed in females until they reach the age of menstruation. Women may also experience some form of abdominal pain or cramping.[1]
## Causes[edit]
The cause for vaginal atresia is unknown. Typically, the creation of the vaginal canal is completed within the fetus by the 20th week of gestation.[medical citation needed] Researchers believe in patients with vaginal atresia, tubes known as the Müllerian ducts don't develop correctly within the first 20 weeks of gestation/pregnancy. Typically, one of these ducts develops in the fallopian tubes while the other ducts develop into the vagina and uterus.[1] Vaginal atresia is found to occur when the urogenital sinus does not contribute to the formation of the lower portion of the vagina.[medical citation needed] As previously mentioned, there are other disorders or syndromes that are found in conjunction with individuals living with vaginal atresia. These disorders are:
### Rokitansky-Mayer-Küster-Hauser syndrome[edit]
Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. Those born with this disorder are considered to be genetic female and have a 46XX chromosomes.[5] Kidney anomalies often accompany this disorder as well.[2] Also referred to as Müllerian agenesis, vaginal agenesis, or müllerian aplasia, this disorder affects 1 in every 4,000-5,000 females.[6][5] A cloacal malformation often accompanies this disorder, which is the surgical treatment that incorporates several vaginal replacement techniques.[clarification needed][2] This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1. A genetic mutation occurs causing a substitution of leucine to proline residue at position 12 on the amino acid in the WNT4 protein.[medical citation needed] Essentially, this will cause a reduction in the intranuclear levels of β catenin. Additionally, steroidogenic enzymes such as 17α-hydroxylase and 3β-hydroxysteriod dehydrogenase are inhibited because of this mutation, which leads to an excess amount to androgen in the system.[medical citation needed] As the WNT4 gene is essential for developing a protein that is essential for female sex development,[7] the Müllerian duct is either absent or deformed when this gene is not present. The development of the female reproductive system may be disrupted in the absence of the WNT4 protein's regulation. Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia.[7]
### Bardet-Biedl Syndrome[edit]
Bardet-Biedl syndrome (BBS) is a cliopathic human genetic disorder that can affect various parts of the body. Parts of the urogenital system where the effects of BBS are seen include: ectopic urethra, kidney failure, uterus duplex, hypogonadism, septate vagina, and hypoplasia of the fallopian tubes, uterus, ovaries.[8] Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity.[2][9][10]
The mechanism that causes BBS is still remains unclear. Mutations in more than 20 genes can cause BBS and is an inherited recessive condition. Some of the gene mutations that occur in BBS are listed below:
BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), IFT27 (BBS19), IFT72 (BBS20), and C8ORF37(BBS21)[11] The majority of the genes that are related to BBS encode proteins which are called cilia and basal bodies, which are related structures.[11]
### Fraser Syndrome[edit]
Fraser syndrome is a disorder that affects the development of the child prior to birth. Infants born with Fraser syndrome often have eyes that are malformed and completely covered by skin. Also the child is born with fingers and toes that are fused together along with abnormalities within the urine tract.[2] As this disorder relates to vaginal atresia, infants born with Fraser syndrome are also born with malformations in their genitals.
### McKusick-Kaufman syndrome[edit]
A female with McKusick-Kaufman syndrome has vaginal atresia that is often present with imperforate anus, heart defects, hydrometrocolpos, and/or polydactyly, The female will still develop secondary sexual characteristics.[9]
## Mechanism[edit]
The exact mechanism for vaginal atresia is not well known, as specific molecular mechanisms which lead to the closing or absence of the vagina are unclear. There are various pathways that may support or restrict regular vaginal development. Research has shown that changing factors may also include paracrine and autocrine signals and changes in the basis of developing organs. Specific patterns of genetic transmission have not been identified for this condition.[4] Normal reproductive organ production requires timely coordination of the following systems: external genitalia, internal ductal system, and gonadal structure. The abnormal development of the vagina results in an incomplete unit (low, mid, high transverse septum), failure of epithelium degeneration (imperforate hymen), and vaginal atresia.[medical citation needed]
According to a number of medical professionals, timely coordination of interdependent systems is required for normal reproductive organ development in both males and females.[4] The description of vaginal atresia mechanism can be explained in several steps of development of the uterovaginal canal per the information provide by these medical professionals. These interdependent systems are external genitalia, gonadal structures, and internal ductal system. The absence of androgens, müllerian-inhibiting substance (MIS), and testes causes the continuous differentiation of the müllerian ducts with reversion of the wolffian ducts in the female embryo. The müllerian duct will then elongate to reach the urogenital sinus within 9 weeks of gestation; this forms the uterovaginal canal.[4] By 15–26 weeks' of gestation, cephalic growth of the sinovaginal bulb is completed. The vaginal plate is also formed from the fusion of vaginal cord with the sinovaginal bulb.
The formation of the uterovaginal canal is thought to occur from the caudal to the cephalic portion, all while the urogenital sinus is used to create the epithelial lining. Development of the vagina is completed by the fifth month of gestation. While the mesenchyme that surrounds the structures transitions into musculature of the genital tract, the fallopian tubes are formed via the cephalic remnants of the müllerian duct. This developmental process attributes to the process of how proper vaginal development takes place. Failure of the septum to regress between the fused müllerian ducts results in a septate uterus. The incomplete fusion of the müllerian ducts attributes to the formation of arcuate, bicornuate, or didelphid uteri.[4]
Females who have both Rokitansky-Mayer-Küster-Hauser syndrome and uterovaginal atresia are theorized to have a failing caudal development within the müllerian ducts. Variations of transverse vaginal septum might be described by the malfunctions at the level of the vaginal plate. Though the müllerian and urogenital sinuses play a huge role in the derivation of the vagina, it is unclear how much of a role each of these play normal vaginal development.[4]
## Diagnosis[edit]
Vaginal atresia can sometimes be diagnosed by physical examination soon after birth.[1] A child with vaginal atresia often has other congenital abnormalities and other tests such as x-ray and tests to evaluate the kidney are done.[4] Findings in adolescents may include abdominal pain, difficulty voiding, and backache, but most present with amenorrhea. Difficulties with sexual intercourse can suggest atresia. In the event that the condition is not caught shortly after birth, vaginal atresia becomes more evident when no menstrual cycle is occurs.[2] If vaginal atresia is suspected by the doctor, a blood test may also be request for any of the previously mentioned syndromes, a magnetic resonance imaging (MRI) test, or an ultrasound. A regular evaluation of children born with an imperforate anus or anorectal malformation should be paired with the assessment of the results from these tests.[citation needed]
Woman with Müllerian agenesis exhibiting vaginal agenesis.
## Treatment[edit]
There are several methods of treatment for individuals with vaginal atresia. The first method of treatment that is recommended would be self-dilation of the vagina. A doctor may first recommend that the patient first attempts to create a vagina themselves through the process self-dilation.[1] The self dilation technique consists of using vaginal dilators, which are small round tubes that vary in size and are similar in size and shape to tampons.[2] Vaginal dilators may be pressed alongside the vaginal area on a regular basis in order to further open the vaginal canal. Frank's procedure is a technique that used a progressive series of vaginal dilators that are inserted into the dimple of the vagina while using pressure. This will widen any space that exists between the bladder and the rectum.[medical citation needed] Frank's procedure can be performed directly by the patient, therefore requiring no surgery or anesthesia. The procedure/technique can take months to complete, with regular compliance necessary. The overall success rate for females who use Frank's procedure is 80%. If this procedure does not work, then surgery would be the next method of treatment.[medical citation needed] Another alternative form of treatment would be surgery, or the creation of a new vagina.[2]
## Prognosis[edit]
The prognosis for vaginal atresia is one that is complicated. There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment.[4] Due to this, it is difficult to compare outcomes between individuals with vaginal atresia.
### Rokitansky-Mayer-Küster-Hauser Syndrome[edit]
Fertility options for girls and women with Rokitansky-Mayer-Küster-Hauser syndrome has a bit more information. Girls and women who are born without a complete vagina, but still have a regular sized uterus more than likely will be able to become pregnant and have a baby. However, if the female is born with a tiny uterus, or without a uterus, they will not be able to have a baby.[5] As the ovaries may be normal in this case, the egg may be fertilized with a donor's or partner's sperm. In this case, surrogacy, would be an option where there will be a gestational carrier to carry the pregnancy for the couple. Adoption may also be an option for females with Rokitansky-Mayer-Küster-Hauser syndrome. Another possibility could be uterine transplants, however this a new and developing form of treatment. Fertility options are being researched daily, so there can always be a new method available.[5]
Any pain associated with Rokitansky-Mayer-Küster-Hauser syndrome comes from menstruation related cramping and can be treated with several ways. Individuals with this syndrome may be born with a uterine remnant (tiny uterus), which can fill with become filled with blood in the pelvic cavity causing pain.[5] A medical professional can assess the severity of having a uterine remnant within each patient to determine if removal of the uterus is necessary.[5]
### Bardet-Biedl Syndrome[edit]
There is no cure available for individuals with Bardet-Biedl Syndrome, however there are methods of treatment for some of the signs and symptoms within each individual.[12] Corrective surgery of malformation related to the disorder may be an option for treatment. Genetic counseling is also something that could be beneficial to families with this disorder.
## References[edit]
1. ^ a b c d e "Vaginal agenesis - Symptoms and causes - Mayo Clinic". www.mayoclinic.org. Retrieved 2017-11-07.
2. ^ a b c d e f g h i j "Vaginal Atresia :: Nationwide Children's Hospital". www.nationwidechildrens.org. Retrieved 2017-11-07.
3. ^ "Urology Care Foundation - What is Vaginal Agenesis?". www.urologyhealth.org. Retrieved 2018-01-21.
4. ^ a b c d e f g h "Vaginal Atresia: Background, Anatomy, Pathophysiology". Medscape. 2017-03-30.
5. ^ a b c d e f "MRKH: General Information | Center for Young Women's Health". youngwomenshealth.org. Retrieved 2017-12-13.
6. ^ "Müllerian Agenesis: Diagnosis, Management, and Treatment - ACOG". www.acog.org. Retrieved 2017-12-12.
7. ^ a b Reference, Genetics Home. "Müllerian aplasia and hyperandrogenism". Genetics Home Reference. Retrieved 2017-12-12.
8. ^ Welt, Corinne K.; Barbieri, Robert L. "Etiology, diagnosis, and treatment of primary amenorrhea". Retrieved 19 November 2015.
9. ^ a b "Vaginal Atresia Clinical Presentation: History and Physical Examination". emedicine.medscape.com. April 22, 2016. Retrieved 2017-12-27.
10. ^ "Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes". www.nlm.nih.gov. Retrieved 2018-01-21.
11. ^ a b "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-13.
12. ^ "Bardet-Biedl syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-12-13.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Vaginal atresia
|
c1321884
| 27,743 |
wikipedia
|
https://en.wikipedia.org/wiki/Vaginal_atresia
| 2021-01-18T18:45:47 |
{"umls": ["C1321884"], "icd-9": ["623.2"], "icd-10": ["Q52.0"], "orphanet": ["65681"], "wikidata": ["Q1691618"]}
|
A number sign (#) is used with this entry because of evidence that the C (Opitz trigonocephaly) syndrome is caused by heterozygous mutation in the CD96 gene (606037), which encodes a member of the immunoglobulin superfamily, on chromosome 3q13.
Description
The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007).
C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11.
Clinical Features
Opitz et al. (1969) described a brother and sister with a malformation syndrome that included unusual facies, polydactyly, cardiac abnormality and, in the boy, cryptorchidism.
Antley et al. (1981) brought the total number of cases to 11 and pointed (in an addendum) to affected brother and sister reported earlier under another designation. Normal karyotype, normal parents with multiple affected offspring, equal sex ratio of affected persons, and parental consanguinity made autosomal recessive inheritance highly likely.
Sargent et al. (1985) presented 12 cases of trigonocephaly of which 6 were associated with other malformations. Partial or complete obliteration of the metopic suture is characteristic. The forehead is narrow and pointed, often associated with biparietal widening and a triangular shape of the skull when viewed from above. Trigonocephaly has been observed as part of several chromosomal syndromes. The cases of Sargent et al. (1985) included an example of first-cousin parents and a pair of affected sibs. Isolated trigonocephaly is usually a trivial anomaly. Complex trigonocephaly, even after chromosomal aberrations are excluded, may be heterogeneous and the risk of recurrence for the group as a whole is probably on the order of 10% rather than 25% (Sargent et al., 1985).
Lalatta et al. (1990) reported 3 unrelated patients. One had a large omphalocele. De Almeida et al. (1992) reported another example of large omphalocele with the C syndrome.
Stratton et al. (1990) reported a presumed case with apparently normal development, and Camera et al. (1990) reported 2 further cases with typical characteristics. Haaf et al. (1991) described this syndrome in the daughter of consanguineous parents. The child showed striking upslanting of the palpebral fissures, small nose with broad root, abnormally modeled ears, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. The patient also had Eisenmenger syndrome (ventricular septal defect with pulmonary hypertension and right-to-left shunt through a persistent ductus arteriosus; see 607411) and was mentally retarded. Glickstein et al. (1995) reported a girl who, in addition to typical manifestations of the C syndrome, had tetralogy of Fallot and agenesis of the corpus callosum. These defects had previously been described in only 1 or 2 patients with this syndrome.
De Koster et al. (1990) described a patient who also had pseudohypoaldosteronism (264350). Since this disorder may represent a defect in the mineralocorticoid receptor (600983), which has been assigned to chromosome 4, De Koster et al. (1990) raised the possibility that the association is due to a cytogenetically undetectable microdeletion in chromosome 4. Schaap et al. (1992) reiterated the suggestion that this disorder may be a microdeletion syndrome which is cytogenetically undetectable. They described 2 cases of trigonocephaly, only one of which appeared to have the Opitz-C syndrome, and reviewed 22 cases from the literature.
Omran et al. (1997) described a probable case of Opitz trigonocephaly syndrome in a patient who presented at the age of 12 years with symptoms of raised intercranial pressure due to medulloblastoma. Both feet featured postaxial hexadactyly.
### Clinical Variability
Preus et al. (1975) described 2 similar patients who were unrelated. Oberklaid and Danks (1975) described a patient and suggested that the disorder be called the Opitz trigonocephaly syndrome. They were dubious that the cases of Preus et al. (1975) were the same. The peculiar shape of the skull, the unusual facies, and the bizarre conformation of the palate were illustrated and described. Flexion deformities of the elbows, wrists, and fingers were seen. The child died at 2 weeks of age. About half the patients die in the first year.
Bohring et al. (1999) presented 4 unrelated cases of an Opitz trigonocephaly (C)-like syndrome (605039). These cases differed from C syndrome on the basis of intrauterine growth retardation, cleft lip/palate, exophthalmos, retinal involvement, flexion deformities of the upper limbs, dislocation of radial heads, and forehead hirsutism. The authors also identified 2 cases in the literature, formerly reported as having C syndrome (Addor et al., 1995; Oberklaid and Danks, 1975), with a similar phenotype to their cases. All 6 cases were sporadic. The authors suggested that these infants may represent the most severe form of the C syndrome or a new entity.
Kaname et al. (2007) discussed phenotypic similarities and differences between the C and C-like syndromes and reviewed their delineation. The C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly and associated anomalies such as unusual facies, psychomotor retardation, redundant skin, abnormalities of joint and limbs, and visceral anomalies.
Osaki et al. (2006) described a newborn infant who had many clinical features similar to those of the C-like syndrome but did not have exophthalmos, which had been regarded as a hallmark of the C-like syndrome. They suggested that the manifestations in this patient are a further indication of overlap between the C-like syndrome and the C syndrome. In the patient reported by Osaki et al. (2006), Kaname et al. (2007) identified a heterozygous mutation in the CD96 gene (606037.0002). Kaname et al. (2007) noted that this patient had relatively severe features for C syndrome, but also stated that it was uncertain whether there is (1) a spectrum in the C syndrome from the mild form (C syndrome) to the severe form (C-like syndrome), or (2) genetic heterogeneity among the patients with the C syndrome.
Cytogenetics
McGaughran et al. (2000) reported a patient with findings consistent with the C syndrome, who had duplication of 3p identified by use of subtelomeric probes. The patient's karyotype was 46,XX.ish der(5)t(3;5)(p26.3;p15.33)(3pter+)de novo.
Chinen et al. (2006) reported a boy, the third child of healthy, nonconsanguineous parents, who had manifestations of Opitz trigonocephaly (C) syndrome and a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). He had mild developmental delay and no severe visceral anomalies.
Molecular Genetics
In the patient with C syndrome with a balanced chromosomal translocation t(3;18) reported by Chinen et al. (2006), Kaname et al. (2007) found that the CD96 gene was disrupted at the 3q13.13 breakpoint (606037.0001). In mutation analysis of 9 karyotypically normal patients with diagnoses of the C or C-like syndrome, they identified a missense mutation, T280M (606037.0002), in exon 6 of the CD96 gene in 1 patient with a phenotype consistent with C-like syndrome, except for the absence of exophthalmos (Osaki et al., 2006). Cells with mutated CD96 protein of the T280M type lost adhesion and growth activities in vitro. The findings indicated that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.
In the C syndrome, normal chromosomes in most patients, unaffected parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance. At the same time, many patients have sporadic disease and the recurrence risk may be estimated to be 10% (Sargent et al., 1985), which suggests the possibility of dominant inheritance or germline mosaicism. The CD96 aberrations (translocation and missense mutation) found by Kaname et al. (2007) were both in the heterozygous state without a copy number variation in the region of the gene, which is consistent with an autosomal dominant condition.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Failure to thrive HEAD & NECK Head \- Trigonocephaly \- Microcephaly Face \- Micrognathia Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Epicanthal folds \- Upward slanting palpebral fissures \- Strabismus Nose \- Anteverted nares \- Broad nasal bridge \- Short nose Mouth \- High-arched palate \- Oral frenula \- Thick anterior alveolar ridges \- Macrostomia CARDIOVASCULAR Heart \- Ventricular septal defect Vascular \- Patent ductus arteriosus CHEST Ribs Sternum Clavicles & Scapulae \- Pectus deformities \- Anomalous ribs \- Fused sternal ossification centers ABDOMEN External Features \- Omphalocele Liver \- Hepatomegaly GENITOURINARY External Genitalia (Female) \- Prominent clitoris Internal Genitalia (Male) \- Cryptorchidism Kidneys \- Renal cortical cysts SKELETAL \- Delayed skeletal maturation Spine \- Scoliosis Pelvis \- Hip dislocation Limbs \- Short limbs \- Radial head dislocation Hands \- Postaxial polydactyly \- Clinodactyly \- Ulnar deviation of the fingers \- Terminal transverse limb reduction \- Metacarpal hypoplasia Feet \- Postaxial polydactyly \- Syndactyly \- Terminal transverse limb reduction SKIN, NAILS, & HAIR Skin \- Skin laxity NEUROLOGIC Central Nervous System \- Hypotonia \- Seizures \- Psychomotor retardation MOLECULAR BASIS \- Caused by mutation in the CD96 gene (CD96, 606037.0001 ) ▲ 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
|
C SYNDROME
|
c0796095
| 27,744 |
omim
|
https://www.omim.org/entry/211750
| 2019-09-22T16:30:17 |
{"mesh": ["C537418"], "omim": ["211750"], "orphanet": ["1308"], "synonyms": ["Alternative titles", "OPITZ TRIGONOCEPHALY SYNDROME", "TRIGONOCEPHALY SYNDROME"]}
|
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.
There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.
Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.
## Frequency
Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.
## Causes
Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth.
ALX3, ALX4, or ALX1 gene mutations reduce or eliminate function of the respective protein. As a result, the regulation of cell organization during development of the head and face is disrupted, particularly affecting the middle of the face. Abnormal development of the nose, philtrum, and upper lip leads to the facial clefts that characterize this disorder. This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, and other features of frontonasal dysplasia.
### Learn more about the genes associated with Frontonasal dysplasia
* ALX1
* ALX3
* ALX4
## Inheritance Pattern
When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it 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.
When ALX4 gene mutations cause frontonasal dysplasia, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Frontonasal dysplasia
|
c1876203
| 27,745 |
medlineplus
|
https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/
| 2021-01-27T08:24:51 |
{"gard": ["2392"], "mesh": ["C538065"], "omim": ["136760", "613451", "613456"], "synonyms": []}
|
X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
X-linked Charcot-Marie-Tooth disease type 5
|
c1839566
| 27,746 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99014
| 2021-01-23T17:26:05 |
{"gard": ["114"], "mesh": ["C537129"], "omim": ["311070"], "umls": ["C1839566"], "icd-10": ["G60.0"], "synonyms": ["CMT5X", "CMTX5"]}
|
A number sign (#) is used with this entry because X-linked retinitis pigmentosa with recurrent respiratory infections is caused by mutation in the RPGR gene (312610).
Clinical Features
In a family with X-linked retinitis pigmentosa with recurrent respiratory infections, van Dorp et al. (1992) identified, by electron microscopy, nasal ciliary abnormalities in some affected males, consisting of deficient inner dynein arms, incomplete microtubules, and disorientation of cilia, associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome (see 244400). Infertility of the affected males was not a feature. Van Dorp et al. (1992) raised the possibility that ciliary abnormalities in XLRP patients (see 300455) may be associated specifically with the RP3 locus mutation. Abnormalities of cilia have been reported in X-linked and autosomal types of RP, including Usher syndrome (276900, 276901) (Arden and Fox, 1979; Fox et al., 1980; Hunter et al., 1988).
Zito et al. (2003) described a family with X-linked retinitis pigmentosa associated with hearing loss, sinusitis, and chronic recurrent respiratory tract infections. The 4 carrier females and 3 affected males were myopic but female carriers were asymptomatic, had normal fields to confrontation, and showed sparse peripheral intraretinal pigmentation. However, additional systemic symptoms were observed in both hemizygous males and heterozygous females. One of the most striking and obvious additional features was the requirement of hearing aids by both affected males and female carriers. Both had severe recurrent ear infections from early childhood continuing into adulthood. Because of hearing loss in the high frequencies, the audiogram was considered consistent with sensorineural hearing loss, although a conductive hearing component may have contributed. Affected males and carrier females suffered from severe recurrent sinus infections. The 3 affected males had chronic recurrent chest infections starting in early childhood, with episodes of bronchitis, which continued into adulthood. The possibility of renal failure being part of the clinical picture was suggested by its occurrence in 1 affected male. The phenotype overlapped those described for primary ciliary dyskinesia and Usher syndrome (276900) and provided support for an essential ciliary function for RPGR in the retina and other tissues.
Iannaccone et al. (2003) reported 2 brothers with X-linked retinitis pigmentosa, hearing loss, recurrent otitis media, and recurrent upper respiratory infections. A deceased great-great maternal uncle had been diagnosed with Usher syndrome, and the maternal grandmother had 'late-onset' retinitis pigmentosa and sensorineural hearing loss. In addition to classic RP, both affected brothers had recurrent ear infections requiring tube placement and mild hearing loss. A mutation in the RPGR gene (312610.0020) was identified in the brothers, the mother, and the maternal grandmother.
Moore et al. (2006) reported 2 brothers, born of a mother with retinitis pigmentosa, who presented in early childhood with respiratory symptoms characterized by chronic sinusitis, serous otitis, and recurrent episodes of bronchitis associated with severe atelectasis that led to partial lobectomy in both children when they were 14 years old. Radiologic and laboratory evaluation revealed findings typical for primary ciliary dyskinesia, including diffuse bronchiectasis, distal obstruction without hypoxemia, and the presence of Hemophilus influenzae. Pure-tone audiometry revealed a predominantly high-frequency hearing impairment in the older brother; results were normal in the younger brother and their mother. Both motile and immotile cilia were detected in samples from the older brother, whereas no ciliary beating was observed in the younger brother's samples. Transmission electron microscopy analysis showed numerous abnormal cilia in which different axonemal structures were missing; taken with the typical clinical features, this led to the diagnosis of primary ciliary dyskinesia in both brothers. Neither their parents nor other relatives had a history of respiratory disease; ciliary motility studies of nasal ciliated cells from the mother were normal. Ophthalmologic examination confirmed the diagnosis of RP in both brothers.
Molecular Genetics
In the family with X-linked retinitis pigmentosa with recurrent respiratory infections described by van Dorp et al. (1992), Dry et al. (1999) identified an IVS5+1G-T splice site mutation in the RPGR gene (312610.0016).
In a family in which affected males in an X-linked recessive pedigree pattern had retinitis pigmentosa associated with impaired hearing and sinorespiratory infections, Zito et al. (2003) identified a 2-bp deletion, 845delTG, in exon 8 of the RPGR gene (312610.0019).
In a mother with retinitis pigmentosa and her 2 sons with primary ciliary dyskinesia and retinitis pigmentosa, Moore et al. (2006) identified a 57-bp deletion in the RPGR gene (312610.0023).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
|
c2749137
| 27,747 |
omim
|
https://www.omim.org/entry/300455
| 2019-09-22T16:20:19 |
{"mesh": ["C567595"], "omim": ["300455"], "orphanet": ["247522"], "synonyms": []}
|
VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
VLCAD deficiency
|
c0342784
| 27,748 |
gard
|
https://rarediseases.info.nih.gov/diseases/5508/vlcad-deficiency
| 2021-01-18T17:57:10 |
{"omim": ["609575"], "umls": ["C0342784"], "orphanet": ["26793"], "synonyms": ["Very long-chain acyl-CoA dehydrogenase deficiency", "VLCADD"]}
|
Invasive hydatidiform mole
Other namesInvasive mole and Chorioadenoma destruens[1]
Invasive hydatidiform mole
SpecialtyOncology
Invasive hydatidiform mole, is a type of neoplasia that grows into the muscular wall of the uterus. It is formed after conception (fertilization of an egg by a sperm). It may spread to other parts of the body, such as the vagina, vulva, and lung.
## See also[edit]
* Hydatidiform mole
## References[edit]
1. ^ McDonald, TW.; Ruffolo, EH. (Feb 1983). "Modern management of gestational trophoblastic disease". Obstet Gynecol Surv. 38 (2): 67–83. doi:10.1097/00006254-198302000-00001. PMID 6300738.
## External links[edit]
* Chorioadenoma destruens entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Invasive hydatidiform mole
|
c0008493
| 27,749 |
wikipedia
|
https://en.wikipedia.org/wiki/Invasive_hydatidiform_mole
| 2021-01-18T18:36:39 |
{"mesh": ["D002820"], "umls": ["C0008493"], "orphanet": ["99925"], "wikidata": ["Q6059775"]}
|
For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 (112500).
Clinical Features
Armour et al. (2000) reported a family with mild brachydactyly type A1 that, except for short stature, was not associated with additional clinical features. They pointed out the usefulness of radiographic analysis, including calculation of a metacarpophalangeal profile, in defining clinical status.
Mapping
Armour et al. (2002) ascertained additional members of a family with brachydactyly reported by Armour et al. (2000) and performed a linkage study of the extended pedigree. A maximum lod score of 6.91 was found at D5S477 (theta = 0). Haplotype analysis provided evidence for a 11-cM critical region defined by markers at D5S819 and D5S1986 in the cytogenetic bands 5p13.3-p13.2.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature SKELETAL Hands \- Short middle phalanges \- Short distal phalanges (fingers 2-5) \- Short proximal first phalanx \- Short fifth metacarpal \- Coned epiphyses \- Premature epiphyseal fusion \- Clinodactyly \- No symphalangism Feet \- Broad, distal hallux \- Broad adducted forefoot MISCELLANEOUS \- Genetic heterogeneity ▲ 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
|
BRACHYDACTYLY, TYPE A1, B
|
c1862151
| 27,750 |
omim
|
https://www.omim.org/entry/607004
| 2019-09-22T16:09:47 |
{"doid": ["0110974"], "mesh": ["C537088"], "omim": ["607004"], "orphanet": ["93388"]}
|
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Periodic paralysis with later-onset distal motor neuropathy
|
None
| 27,751 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397750
| 2021-01-23T17:15:43 |
{"icd-10": ["G72.3"]}
|
## Description
Arachnoid cysts are extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. They account for approximately 1% of intracranial space-occupying lesions, although studies since the advent of CT scanning suggest a higher percentage. A striking male preponderance has been observed (summary by Wilson et al., 1988).
Clinical Features
Handa et al. (1981) reported 2 brothers, aged 10 months and 3 years, with macrocrania and bilateral arachnoid cysts in the middle cranial fossa. They cited a Japanese report of 2 affected brothers.
Pomeranz et al. (1991) described 2 brothers and a sister with intracranial arachnoid cysts. One of the brothers had symmetric, bilateral, temporoparietal convexity cysts, and the others had singular, unilateral cysts. Three other sibs were unaffected. The parents were not related; the pedigree in Figure 3 of the article shows the mother as affected, but no reference to such was made in the article.
Wilson et al. (1988) described a teenaged brother and sister with almost identical unilateral arachnoid cysts in the posterior left hemisphere, extending inferiorly from the cerebral convexity to the middle cranial fossa and posterior fossa. Both sibs had microcephaly and developmental delay. At age 9 years, the sister began having seizures, which were well-controlled by phenobarbital and phenytoin. The brother had generalized grand mal seizures, occurring about twice monthly, usually during sleep.
Helland and Wester (2007) reported 12-year-old monozygotic twin girls from Norway with mirror image arachnoid cysts. One sister came to attention due to a severe headache following minor head trauma. MRI revealed an arachnoid cyst in the right cerebellopontine angle. The cyst was removed without complications. Brain MRI of her sister showed a mirror image arachnoid cyst in the left cerebellopontine angle. Both girls had normal psychomotor development. Helland and Wester (2007) noted that location of an arachnoid cyst in the cerebellopontine angle is uncommon (about 5.4% of their cases), and suggested that the mirror imaging observed in these twins represented a type of chirality resulting from enantiomer information in the early embryo.
Inheritance
Wilson et al. (1988) stated that reports of arachnoid cysts suggest an autosomal recessive or multifactorial pattern of inheritance.
Head \- Microcephaly Neuro \- Arachnoid cysts \- \- Mental retardation Cranium \- Macrocrania Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
ARACHNOID CYSTS, INTRACRANIAL
|
c0078981
| 27,752 |
omim
|
https://www.omim.org/entry/207790
| 2019-09-22T16:30:52 |
{"mesh": ["D016080"], "omim": ["207790"], "orphanet": ["2356"]}
|
A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Acromegaloid facial appearance syndrome
|
c0796280
| 27,753 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=965
| 2021-01-23T18:45:49 |
{"gard": ["501"], "mesh": ["C535655"], "omim": ["102150"], "umls": ["C0796280"], "icd-10": ["Q87.0"]}
|
This article's factual accuracy is disputed. Relevant discussion may be found on the talk page. Please help to ensure that disputed statements are reliably sourced. (August 2012) (Learn how and when to remove this template message)
Papillary adenocarcinoma is a histological form of lung cancer that is diagnosed when the malignant cells of the tumor form complex papillary structures and exhibit compressive, destructive growth that replaces the normal lung tissue.[1]
## References[edit]
1. ^ Travis WD, Brambilla E, Muller-Hermelink HK, Harris CC (Eds.): World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart. IARC Press: Lyon, France 2004.
## External links[edit]
* [1] World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart (Download Page).
* [2] Lung cancer page at the National Cancer Institute.
* v
* t
* e
Cancer involving the respiratory tract
Upper RT
Nasal cavity
Esthesioneuroblastoma
Nasopharynx
Nasopharyngeal carcinoma
Nasopharyngeal angiofibroma
Larynx
Laryngeal cancer
Laryngeal papillomatosis
Lower RT
Trachea
* Tracheal tumor
Lung
Non-small-cell lung carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma (Mucinous cystadenocarcinoma)
* Large-cell lung carcinoma
* Rhabdoid carcinoma
* Sarcomatoid carcinoma
* Carcinoid
* Salivary gland–like carcinoma
* Adenosquamous carcinoma
* Papillary adenocarcinoma
* Giant-cell carcinoma
Small-cell carcinoma
* Combined small-cell carcinoma
Non-carcinoma
* Sarcoma
* Lymphoma
* Immature teratoma
* Melanoma
By location
* Pancoast tumor
* Solitary pulmonary nodule
* Central lung
* Peripheral lung
* Bronchial leiomyoma
Pleura
* Mesothelioma
* Malignant solitary fibrous tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Papillary adenocarcinoma
|
c0001420
| 27,754 |
wikipedia
|
https://en.wikipedia.org/wiki/Papillary_adenocarcinoma
| 2021-01-18T18:56:08 |
{"mesh": ["D000231"], "umls": ["C0001420", "C1321863"], "wikidata": ["Q7132981"]}
|
Communication deviance (CD) occurs when a speaker fails to effectively communicate meaning to their listener with confusing speech patterns or illogical patterns.[1] These disturbances can range from vague linguistic references, contradictory statements to more encompassing non-verbal problems at the level of turn-taking.
The term was originally introduced by Lyman Wynne and Margaret Singer in 1963 to describe a communication style found among parents who had children with schizophrenia.[2] According to Wynne, people are able to focus their attention and identify meaning from external stimuli beginning with their interactions, particularly with their parents, during their early years of life.[3] In family communication, deviance is present in the way members acknowledge or affirm one another as well as in task performance.[4]
A recent meta-analysis reported that communication deviance is highly prevalent in parents of patients diagnosed with schizophrenia [5] and adoption studies have reported significant associations between CD in the parent and thought disorder in the offspring,[6] however, the mechanisms by which CD impacts on the offspring's cognition are still unknown. Some researchers theorize that, in the case of a high degree of egocentric communication in parents where the sender and the receiver do not speak and listen according to each other's premises, the child develops uncertainty.[7]
The research of psychiatrists and psychoanalysts Lyman Wynne and Theodore Lidz on communication deviance and roles (e.g., pseudo-mutuality, pseudo-hostility, schism and skew) in families of people with schizophrenia also became influential with systems-communications-oriented theorists and therapists.[8][9]
## See also[edit]
* Stilted speech
* Alogia
* Schizophrenia
* Psychosis
## References[edit]
1. ^ Singer, MT; Wynne, LC (August 1966). "Principles for scoring communication defects and deviances in parents of schizophrenics: Rorschach and TAT scoring manuals". Psychiatry. 29 (3): 260–88. doi:10.1080/00332747.1966.11023470. PMID 5969538.
2. ^ Andrés Martin; Fred R. Volkmar; Melvin Lewis (2007). Lewis's Child and Adolescent Psychiatry: A Comprehensive Textbook. Lippincott Williams & Wilkins. p. 862. ISBN 978-0-7817-6214-4.
3. ^ Vangelisti, Anita L. (2012-11-27). The Routledge Handbook of Family Communication. Oxon: Routledge. ISBN 978-1-136-94636-3.
4. ^ Huser Liem, Joan (1979). "Family Studies of Schizophrenia: An Update and Commentary". Special Report: Schizophrenia, 1980. U.S. Department of Health and Human Services, Public Health Service, Alcohol, Drug Abuse, and Mental Health Administration. p. 91.
5. ^ de Sousa, P.; Varese, F.; Sellwood, W.; Bentall, R. P. (25 June 2013). "Parental Communication and Psychosis: A Meta-analysis". Schizophrenia Bulletin. 40 (4): 756–768. doi:10.1093/schbul/sbt088. PMC 4059429. PMID 23800431.
6. ^ Wahlberg, KE; Wynne, LC; Oja, H; Keskitalo, P; Anais-Tanner, H; Koistinen, P; Tarvainen, T; Hakko, H; Lahti; Moring, J; Naarala, M; Sorri, A; Tienari, P (January 2000). "Thought disorder index of Finnish adoptees and communication deviance of their adoptive parents". Psychological Medicine. 30 (1): 127–36. doi:10.1017/s0033291799001415. PMID 10722183.
7. ^ L'Abate, Luciano (1998). Family Psychopathology: The Relational Roots of Dysfunctional Behavior. New York: Guilford Press. p. 84. ISBN 1-57230-369-7.
8. ^ Sholevar, G.P. (2003). Family Theory and Therapy. In Sholevar, G.P. & Schwoeri, L.D. Textbook of Family and Couples Therapy: Clinical Applications. Washington, DC: American Psychiatric Publishing Inc.
9. ^ Barker, P. (2007). Basic family therapy; 5th edition. Wiley-Blackwell.
This abnormal psychology–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
|
Communication deviance
|
None
| 27,755 |
wikipedia
|
https://en.wikipedia.org/wiki/Communication_deviance
| 2021-01-18T18:51:15 |
{"wikidata": ["Q18348488"]}
|
Avoidance of the number four in many East Asian nations
An elevator control panel in a residential apartment building in Shanghai with floor numbers 4, 13 and 14 missing. Floor 4 is missing because of the very similar pronunciation of "four" and "death" in Mandarin Chinese. Floor 13 is missing due to triskaidekaphobia. Floor 14 is missing because 4 is included in 14. Note that there is a "negative first" floor.
Tetraphobia (from Ancient Greek τετράς (tetrás) 'four', and Ancient Greek φόβος (phóbos) 'fear') is the practice of avoiding instances of the digit 4. It is a superstition most common in East Asian nations.[1]
## Contents
* 1 Rationale
* 2 Cultural examples by regions
* 2.1 In Mainland China
* 2.2 In Hong Kong
* 2.3 In Taiwan
* 2.4 In Southeast Asia
* 2.5 In South Korea
* 2.6 Outside Asia
* 3 Corporate examples
* 3.1 Nokia
* 3.2 SaskTel
* 3.3 OnePlus
* 4 Research
* 5 In popular culture
* 6 See also
* 7 References
* 8 External links
## Rationale[edit]
Language Reading
四
(four)
死
(death)
Proto-Sino-Tibetan *b-ləj *səj
Old Chinese /*s.lij-s/ /*sijʔ/
Middle Chinese /siɪH/ /sˠiɪX/
Mandarin Chinese sì sǐ
Wu Chinese (Shanghainese) sy² sy², shi²
Cantonese sei³ sei²
Hakka si³ si⁴
Min Nan (Hokkien),Taiwanese sì, sù sí, sú
Vietnamese tư, tứ tử
Korean sa sa
Japanese shi shi
The Chinese word for four (四, pinyin: sì, jyutping: sei3), sounds quite similar to the word for death (死, pinyin: sǐ, jyutping: sei2), in many varieties of Chinese. Similarly, the Sino-Japanese, Sino-Korean and Sino-Vietnamese words for four, shi (し, Japanese) and sa (사, Korean), sound similar or identical to death in each language (see Korean numerals, Japanese numerals, Vietnamese numerals). Tetraphobia is known to occur in Korea and Japan since the two words sound identical, but not at all in Vietnam because they carry different tones (in the case of the word for "four", whether it is the Sino-Vietnamese reading tứ or the more common non-Sino-Vietnamese reading tư, neither sounds like the word for "death" which is tử) and Vietnamese does not use Sino-Vietnamese numerals as often in the first place.
Special care may be taken to avoid occurrences or reminders of the number 4 during everyday life, especially during festive holidays or when a family member is ill. Mentioning the number 4 around a sick relative is strongly avoided. Giving four of something is strongly discouraged. Elevators in Asia and Asian neighborhoods often skip the 4th floor. Military aircraft and ships also avoid the number 4 (such as in the South Korean and Taiwanese navies). Dates such as April 4 are also thus avoided.
Similarly, 14, 24, 42, etc. are also to be avoided due to the presence of the digit 4 in these numbers. In these countries, these floor numbers are often skipped in buildings, ranging from hotels to offices to apartments, as well as hospitals. Table number 4, 14, 24, 42, etc. are also often left out in wedding dinners or other social gatherings in these countries. In many residential complexes, building block 4, 14, 24, etc. are either omitted or replaced with block 3A, 13A and 23A. Hospitals are of grave concern and the number 4 is regularly avoided altogether. Tetraphobia can dictate property prices. Neighborhoods have removed four from their street names and become more profitable as a result.[citation needed] In the same way, buildings with multiple fours can suffer price cuts.[citation needed] Four is also avoided in phone numbers, security numbers, business cards, addresses, ID numbers and other numbers and are considered severe as they are personally attached to the person.[citation needed]
Tetraphobia far surpasses triskaidekaphobia (Western superstitions around the number 13). It even permeates the business world in these regions of Asia.[2]
## Cultural examples by regions[edit]
### In Mainland China[edit]
See also: Numbers in Chinese culture § Unlucky numbers
Chinese is a tonal language with a comparatively small inventory of permitted syllables, resulting in an exceptionally large number of homophone words. Many of the numbers are homophones or near-homophones of other words and have therefore acquired superstitious meanings.
The Chinese avoid phone numbers and addresses with fours because the pronunciation in "four" and "death" differ only in tone, especially when a combination with another number sounds similar to undesirable expressions. Example: “94” could be interpreted as being dead for a long time.
The People's Republic of China makes free use of the number 4 in many military designations for People's Liberation Army equipment, with examples including the Dongfeng-4 ICBM, Type 094 submarine, and Type 054A frigate, although the practice of starting aircraft designations with 5 leads some[who?] to speculate that it avoids the starting numeral 4 for aircraft designations much as the United States avoids use of the number 13 in that context.[3] By contrast, the navies of the Republic of China (Taiwan) and of South Korea refrain from using the number 4 when assigning pennant numbers to their ships.
While in Mandarin-speaking regions in China, 14 and 74 are considered more unlucky than the individual 4, since 14 (十四, pinyin: shí sì) sounds like "is dead" (是死, pinyin: shì sǐ) and because in some forms of the language, 1 is pronounced (yao) which sounds like (yào 要), which means will be, when combined, it sounds like will be dead. 74 (七十四, pinyin: qī shí sì) sounds like "is already dead" (其实死, pinyin: qī shí sǐ) or "will die in anger" (气死, pinyin: qì sǐ).
When Beijing lost its bid to stage the 2000 Olympic Games, it was speculated that the reason China did not pursue a bid for the following 2004 Games was due to the unpopularity of the number 4 in China. Instead, the city waited another four years, and would eventually host the 2008 Olympic Games, the number eight being a lucky number in Chinese culture.
In recent years China has also avoided using the number 4 in aircraft registrations. An example is China Southern Airlines, with their A330s. One A330 is registered as B-8363, while the next is B-8365 and following B-8366. After B-8366 there is B-1062, B-1063 then B-1065, to avoid using the number 4 as in B-8364 and 1064. However this policy only applies for aircraft that end with 4, so you'll see B-8426 but not B-8264. [4]
### In Hong Kong[edit]
In Hong Kong, some apartments such as Vista Paradiso and The Arch skip all the floors from 40 to 49, which is the entire 40s. Immediately above the 39th floor is the 50th floor, leading many who are not aware of tetraphobia to believe that some floors are missing. Tetraphobia is not the main reason, but rather as an excuse to have apartments with 'higher' floors, thus increasing the price, because higher floors in Hong Kong apartments are usually more expensive (see 39 Conduit Road). For Cantonese speakers, 14 and 24 are considered more unlucky than the individual 4, since 14 (Cantonese Yale: sahp sei) sounds like "will certainly die" (實死, Cantonese Yale: saht séi), and 24 (Cantonese Yale: yih sei) sounds like "easy to die" (易死, Cantonese Yale: yih séi).
Due to the blending of East Asian and Western cultures, it is possible in some buildings that both the thirteenth floor and the fourteenth floor are skipped, causing the twelfth floor to precede the fifteenth floor, along with all the other 4s. Thus a building whose top floor is numbered 100 would, in fact, have just eighty floors.
### In Taiwan[edit]
In Taiwan, not using house numbers ending in 4 without also skipping numbers on the opposite side of the road often results in the numbers on two sides of a street getting more and more out of sync as one advances.[5]
### In Southeast Asia[edit]
Because of the significant population of Chinese and influence of Chinese culture in Southeast Asia, 4 is also considered to be unlucky.
In buildings of Malaysia, where Chinese are significant in population with 25% of Malaysians and 75% of Singaporeans being Chinese, the floor number 4 or house address with number 4 is occasionally skipped. The practice is more prevalent in private condominiums, especially those built by ethnic Chinese-owned companies. The fourth floor may be either ommited completely or substituted with "3B".
Singaporean public transport operator SBS Transit has omitted the number plates for some of its buses whose numbers end with '4' due to this, so if a bus is registered as SBS***3*, SBS***4* will be omitted and the next bus to be registered will be SBS***5*.[6] Note that this only applies to certain buses and not others and that the final asterisk is the checksum letter and not a number. For example, if the bus is registered as SBS7533J, SBS7534G will be omitted and the next bus to be registered will be SBS7535D.
Singaporean public transport operator SMRT has omitted the '4' as the first digit of the serial number of the train cars as well as the SMRT Buses NightRider services[citation needed].
In Indonesia since the 2000s, an increasing number of skyscrapers skip floors ending with, or contains implicit references to, the number 4 (as well as the 13th floor), especially in those funded by Chinese Indonesians. For example in Plaza Semanggi (owned by Lippo Group, which was founded by Chinese Indonesian Mochtar Riady), 4th floor is replaced by 3A. In The Energy Tower and most high-rises developed by Agung Sedayu Propertindo, 39th floor is followed by 50th floor. Some buildings, mostly owned by non-Chinese, have a 4th floor. Examples are government buildings, the Sarinah department store, and most buildings developed by Indonesian state-owned enterprises.
In Vietnam, the Sino-Vietnamese words for "four" (tứ) is used more in formal context than in everyday life and its spoken sound is clearly different from word for "death" (tử). The Chữ nôm word "bốn" equivalent to word "tứ" is often used, therefore the number 4 is rarely avoided. Even so, in the past Vietnamese people often named their children "tư" or "tứ", which means "the fourth child born in family".
### In South Korea[edit]
In South Korea, tetraphobia is less extreme; the number 4 sounds like "decease" and "died" (사), but the floor number 4 or room number 4 is almost always skipped in hospitals, funeral halls, and similar public buildings. In other buildings, the fourth floor is sometimes labelled "F" (Four) instead of "4" in elevators. Apartment numbers containing multiple occurrences of the number 4 (such as 404) are likely to be avoided to an extent that the value of the property is adversely affected. The national railroad, Korail, left out the locomotive number 4444 when numbering a locomotive class from 4401 upwards.
### Outside Asia[edit]
Efforts to accommodate tetraphobia-related sensitivities have been seen in Canada which has a significant population of Chinese descent. Richmond Hill, Ontario, banned the number four on new houses in June 2013. Property developers in Vancouver omitted the number from new buildings until October 2015, when the city banned non-sequential numbering schemes.[7][8]
## Corporate examples[edit]
### Nokia[edit]
The software platform Symbian, used by Finnish telecommunications firm Nokia in their Series 60 platform, avoids releases beginning with 4, as it did when it was EPOC and owned by Psion (there was no Psion Series 4, and there was no 4th edition of S60). This was done "as a polite gesture to Asian customers".[9][10] Similarly, Nokia did not release any products under the 4xxx series, although some of Nokia's other products do contain the number 4, such as the Series 40 platform, and the Nokia 3410. However, as of the Mobile World Congress 2019 event, the company had announced the Nokia 4.2.
### SaskTel[edit]
When area code 306 was nearing exhaustion in 2011, the Canadian Radio-television and Telecommunications Commission originally proposed that the new area code be 474.[11] However, representatives from SaskTel requested that the new area code be 639 instead, to avoid the negative connotations of 4 in Asian cultures. 639 was subsequently approved as the new area code.[12]
### OnePlus[edit]
The Chinese smartphone manufacturer OnePlus chose to name its smartphone model after the 3 and 3T the 5, avoiding the number 4.[13]
## Research[edit]
The British Medical Journal reported in a study that looked at mortality statistics in the United States over a 25-year period. They found that on the fourth day of the month, Asian people were thirteen percent more likely to die of heart failure. In California, Asians were twenty-seven percent more likely to die of a heart attack on that day. The purpose of the study was to see if psychological stress caused by belief in this superstition could indeed trigger deadly heart attacks and other fatal incidents.[14]
## In popular culture[edit]
* Guido Mista, a supporting character and core ally from the Golden Wind arc of the anime and manga series JoJo's Bizarre Adventure, suffers from tetraphobia. This shows itself through (among other things) throwing a fit when having to choose something from a group of four, and panicking when he finds himself with exactly four spare bullets for his revolver. Mista commands a Stand called Sex Pistols, six spirit-like entities, referring to each one as "#1" through "#7", omitting "#4". Despite this, #5 is frequently abused by #3, due to it being 4th sequentially. Ironically, #5's more timid nature and its hesitance to enter dangerous situations means that it has regularly survived when its comrades were destroyed by enemy stands, thus preventing Mista from dying multiple times throughout the story.
* In the Japanese anime and manga series The Promised Neverland, one character uses the number 4 to reference the death of a certain character.
* In Blade Runner the noodle shop chef corrects Rick Deckard who is asking for four sushis that two will be enough for him.
## See also[edit]
* Curse of 39
* Faux pas derived from Chinese pronunciation
* Japanese wordplay
* List of phobias
* Triskaidekaphobia, fear or avoidance of the number 13
* Numbers in Chinese culture
* Guido Mista
## References[edit]
1. ^ Havil, Julian (2007). Nonplussed: Mathematical Proof of Implausible Ideas (Hardcover). Princeton University Press. p. 153. ISBN 978-0-691-12056-0.
2. ^ "Doing business in Tetraphobic Asia".
3. ^ "Chinese Military Tetraphobia".
4. ^ https://www.airfleets.net/flottecie/China%20Southern%20Airlines-active-a330-35.htm
5. ^ "門牌忌四之配套， 以維持左右協調 Methods to balance house numbers opposite skipped 4". jidanni.org.
6. ^ "Driver Trapped in Bus After Collision". Straits Times. June 11, 2008. p. 34. Retrieved December 2, 2016 – via NLB E-resources.
7. ^ "Tetraphobia: Nothing to fear..." The Economist. 4 December 2015. Retrieved 4 December 2015.
8. ^ "No. 4 banned from new Richmond Hill, Ont., street addresses". CBC News. June 4, 2013. Retrieved 9 June 2013.
9. ^ "S60 5th Edition and the Nokia 5800 XpressMusic are here!". S60 Blogs. Archived from the original on June 11, 2009. Retrieved 7 May 2014.
10. ^ Mahoney, Barrie (2012). Message in a Bottle. Twitters from the Atlantic. CreateSpace Independent Publishing Platform. p. 53. ISBN 978-1480031005.
11. ^ "Telecom Decision CRTC 2010-784". Retrieved 7 May 2014.
12. ^ "639 to be Sask.'s 2nd area code". CBC.ca News. Saskatchewan. Retrieved 7 May 2014.
13. ^ "OnePlus 5 Specs: New Leak Confirms OnePlus 4 Skip and More". www.christianpost.com. Retrieved 2017-07-02.
14. ^ "British Medical Journal study".
## External links[edit]
* Media related to Tetraphobia at Wikimedia Commons
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
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|
Tetraphobia
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None
| 27,756 |
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https://en.wikipedia.org/wiki/Tetraphobia
| 2021-01-18T18:44:47 |
{"wikidata": ["Q72210"]}
|
NUT midline carcinoma
Other namesNMC[1]
Micrograph of a NUT midline carcinoma with the characteristic well-differentiated islands of squamous epithelium. H&E stain.
SpecialtyOncology
NUT carcinoma (formerly NUT midline carcinoma), is a rare genetically defined, very aggressive squamous cell epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis gene.[2] In approximately 75% of cases, the coding sequence of NUTM1 on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUTM1 is to an unknown partner gene, usually called NUT-variant.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Differential diagnosis
* 3 Treatment
* 4 Prognosis
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
In the United States, about 20-30 cases are reported each year. This may be a gross underestimate of the total number of cases as few laboratories have the reagents and expertise to make the diagnosis.[3] The symptoms are similar to other forms of cancer and dependent on the stage. While generalized symptoms (weight loss and fatigue) may be seen, site specific symptoms are also present. If the tumor involves the head and neck region (in about 35%), then pain, a mass, obstructive symptoms, among others, may be experienced. NUT midline carcinomas are not specific to any tissue type or organ.[4] Common sites include the head, neck and mediastinum.[5] The median age at diagnosis is 17 years, but older patients may be affected.
## Diagnosis[edit]
NMC when viewed microscopically, are poorly differentiated carcinomas which show abrupt transitions to islands of well-differentiated squamous epithelium.[4][5] This tumor pattern is not specific or unique to NUT midline carcinoma, but this pattern is most suggestive of the diagnosis. The neoplastic cells will show a positive reaction with various cytokeratins, p63, CEA, and CD34 immunohistochemistry. However, the NUT antibody confirms the diagnosis (although only available in a limited number of laboratories).
### Differential diagnosis[edit]
The differential diagnosis is quite wide, but it is important to consider this tumor type when seeing a poorly differentiated tumor that shows abrupt areas of keratinization. Other tumors included in the differential diagnosis are sinonasal undifferentiated carcinomas, Ewing sarcoma/Primitive neuroectodermal tumor, leukemia, rhabdomyosarcoma, and melanoma. When NUT midline carcinoma is seen in the head and neck, the squamous lining of the cavities may be entrapped by the neoplastic cells, and so it is important to document the carcinoma cells in the rest of the tumor by a variety of stains (including cytokeratin or p63). One of the most helpful and characteristic findings is the focal abrupt squamous differentiation, where stratification and gradual differentiation are absent, resembling a Hassall corpuscle of the thymus.[6]
The defining feature of NMCs is rearrangement of the NUT gene.[4] Most common is a translocation involving the BRD4 gene and NUT gene (t(15;19)(q13;p13.1)).[5][7]
## Treatment[edit]
BET inhibitors are used for treatment[citation needed]
## Prognosis[edit]
NUT midline carcinoma is very resistant to standard chemotherapy treatments. The tumor may initially respond to therapy, and then rapid recurrence is experienced. A multimodality approach to treatment is advocated, especially since most patients present with advanced disease. Treatment must be tailored to the individual patient, with several promising new targeted molecular therapies in clinical trials. Specific molecular targeted therapies (BET inhibitors and histone deacetylase inhibitors (HDACi)) may help to yield growth arrest of the neoplastic cells.[6] Overall, there is a mean survival of 6–9 months.[8][9]
## See also[edit]
* BET inhibitor
* Mediastinum
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: NUT midline carcinoma". www.orpha.net. Retrieved 18 November 2019.
2. ^ Online Mendelian Inheritance in Man (OMIM): 608963
3. ^ "International NUT Midline Carcinoma Registry - Doctors".
4. ^ a b c French, CA. (Nov 2010). "NUT midline carcinoma". Cancer Genet Cytogenet. 203 (1): 16–20. doi:10.1016/j.cancergencyto.2010.06.007. PMC 3000636. PMID 20951314.
5. ^ a b c French, CA. (Jun 2010). "Demystified molecular pathology of NUT midline carcinomas". J Clin Pathol. 63 (6): 492–6. doi:10.1136/jcp.2007.052902. PMID 18552174.
6. ^ a b French, C. A. (2013). "The importance of diagnosing NUT midline carcinoma". Head and Neck Pathology. 7 (1): 11–6. doi:10.1007/s12105-013-0428-1. PMC 3597165. PMID 23463074.
7. ^ Online Mendelian Inheritance in Man (OMIM): 608749
8. ^ NEJM 367:647 doi:10.1056/NEJMra1112635
9. ^ "International NUT Midline Carcinoma Registry - Doctors".
## External links[edit]
Classification
D
* ICD-10: C80.9
External resources
* Orphanet: 443167
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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*[OCD]: Obsessive-compulsive disorder
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
NUT midline carcinoma
|
c1707291
| 27,757 |
wikipedia
|
https://en.wikipedia.org/wiki/NUT_midline_carcinoma
| 2021-01-18T18:47:05 |
{"umls": ["C1707291"], "orphanet": ["443167"], "wikidata": ["Q6955667"]}
|
Brosnan et al. (1980) described 2 sisters, aged 1.5 and 8.5 years, with peculiar facies; cardiac, renal, musculoskeletal, and ectodermal anomalies; short stature; streak gonads and mild developmental delay. Both patients were of 46,XY karyotype. Abnormalities included cleft lip and palate, preauricular pits, acromelia with broad hands and feet, and a hypermuscular appearance. Ectodermal defects included 'punched out scalp defects' and unusual position of hair whorls. The nose had a 'squashed down' appearance because of a short columella and small nares.
Skel \- Acromelia \- Broad hands \- Broad feet GU \- Gonadal dysgenesis \- Primary amenorrhea Growth \- Short stature Neuro \- Mild developmental delay Skin \- Ectodermal defects \- Punched out scalp defects \- Unusual position of hair whorls Cardiac \- Congenital heart defect HEENT \- Peculiar facies \- Short columella \- Small nares \- Preauricular pits \- Cleft lip/palate Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
|
c1856272
| 27,758 |
omim
|
https://www.omim.org/entry/233430
| 2019-09-22T16:27:23 |
{"mesh": ["C565536"], "omim": ["233430"], "orphanet": ["1770"]}
|
## Clinical Features
Sica et al. (1995) described what they suggested may be a previously unrecognized syndrome. Two brothers, residents of the northern part of Argentina, suffered from intermittent painful muscle contractions in the trunk limbs. These began at the ages of 8 and 10 years and occurred in episodes lasting from some minutes to several hours, repeating many times throughout the day or night and interfering with rest. By the age of 21, the older man had involvement of the temporal, masseter, and neck muscles. The brothers were 1.34 m and 1.30 m tall. Their facial appearance was similar, with large, low-set ears, large beak nose, and slightly prominent eyes. The scalp hair was fragile, thin, and sparse, and hair was absent from the rest of the body. Intellect was normal. The men were observed to have spontaneous, painful, undulating muscle contractions spreading from one muscle to another and changing from one side of the body to the other, lasting 5 to 30 seconds each. Contractions could be elicited by tapping on the muscle. A double first cousin (a son of a sister of the mother by a brother of the father) was said to be affected but was not examined. The father was also said to have been affected but was probably taller. The photographs display strong muscular development.
Inheritance
Sica et al. (1995) thought that pseudodominant inheritance of a recessive or perhaps X-linked recessive type appeared to be possible.
Hair \- Fragile, thin, and sparse scalp hair \- No body hair Eyes \- Slightly prominent eyes Growth \- Short stature Neuro \- Normal intelligence Nose \- Large beaked nose Inheritance \- Autosomal vs. X-linked recessive Muscle \- Intermittent painful trunk and limb muscle contractions Misc \- Onset age 8 to 10 years Ears \- Large, low-implanted 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
|
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
|
c1833341
| 27,759 |
omim
|
https://www.omim.org/entry/600771
| 2019-09-22T16:15:56 |
{"mesh": ["C563447"], "omim": ["600771"]}
|
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.
Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.
## Frequency
Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans.
## Causes
Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.
The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. During this reaction, the enzyme transfers a compound called glucuronic acid to unconjugated bilirubin, converting it to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body.
Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. However, this change is uncommon in Asian populations, and affected Asians often have a mutation that changes a single protein building block (amino acid) in the bilirubin-UGT enzyme. This type of mutation, known as a missense mutation, results in reduced enzyme function.
People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function. As a result, unconjugated bilirubin is not glucuronidated quickly enough. This toxic substance then builds up in the body, causing mild hyperbilirubinemia.
Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition. For example, red blood cells may break down too easily, releasing excess amounts of bilirubin that the impaired enzyme cannot keep up with. Alternatively, movement of bilirubin into the liver, where it would be glucuronidated, may be impaired. These other factors may be due to changes in other genes.
### Learn more about the gene associated with Gilbert syndrome
* UGT1A1
## Inheritance Pattern
Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. 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.
When the condition is caused by a missense mutation in the UGT1A1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. A more severe condition known as Crigler-Najjar syndrome occurs when both copies of the UGT1A1 gene have mutations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Gilbert syndrome
|
c0017551
| 27,760 |
medlineplus
|
https://medlineplus.gov/genetics/condition/gilbert-syndrome/
| 2021-01-27T08:25:35 |
{"gard": ["6507"], "mesh": ["D005878"], "omim": ["143500"], "synonyms": []}
|
Cantu et al. (1980) described 2 sisters, aged 18 and 11 years, with intrauterine growth retardation and camptodactyly as a leading feature. They were 142 and 126 cm tall, respectively. Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features. The parents were not demonstrably consanguineous but their forebears had lived in the same small village for several generations. Figuera et al. (1993) corroborated and further delineated this syndrome on the basis of 3 sibs from a Mexican family: 2 girls, aged 18 and 9 years, and a 7-year-old boy. They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly, and skeletal anomalies. The parents were related as half third cousins. The family was from the same region as the one earlier reported. All 5 reported patients had brachycephaly, microcephaly, flat facies, epicanthal folds, and telecanthus, as well as small, downturned mouth, dental malocclusion, hallux valgus, and pectus carinatum/excavatum.
In 2 Brazilian brothers born to consanguineous parents, Richieri-Costa et al. (1994) reported a seemingly 'new' syndrome characterized by thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. The older boy was found to have megacolon at the age of 2 years but surgical intervention was not necessary. Both brothers had seizures. Richieri-Costa et al. (1994) referred to the condition as faciothoracoskeletal syndrome.
Ramirez-Duenas and Cantu (1995) suggested, and Richieri-Costa (1995) agreed, that the entity named faciothoracoskeletal syndrome is the same as Guadalajara camptodactyly syndrome type I.
Zechi-Ceide et al. (2002) reported a Brazilian female with a thin/long face, blepharophimosis, minor auricular anomalies, camptodactyly, and thoracic and spinal anomalies. The authors considered the clinical features in this patient to be consistent with the diagnosis of Guadalajara camptodactyly syndrome type I.
Also see Guadalajara camptodactyly syndrome type II (211920) and type III (611929).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Intrauterine growth retardation HEAD & NECK Head \- Microcephaly \- Brachycephaly Face \- Flat face \- Midface hypoplasia Ears \- Small ears \- Hypoplastic lobules \- Low-set ears \- Posteriorly rotated ears Eyes \- Short palpebral fissures \- Upslanting palpebral fissures \- Epicanthal folds \- Telecanthus \- Microcornea \- Synophrys \- Hypertelorism Nose \- Short nose \- Anteverted nostrils \- Depressed nasal bridge Mouth \- Small, downturned mouth \- High-arched palate \- Bifid uvula Teeth \- Malocclusion \- Abnormal dental eruption Neck \- Long neck CHEST Ribs Sternum Clavicles & Scapulae \- Pectus carinatum \- Pectus excavatum \- Winged scapulae \- Downslanting ribs \- Twelfth rib hypoplasia SKELETAL \- Delayed bone age Skull \- Absent frontal and ethmoidal sinuses \- Wormian bones Spine \- Spina bifida occulta \- Horizontal sacrum \- Reduced anterior-posterior diameter of vertebral bodies \- Lumbar hyperlordosis \- Hypoplastic 5th lumbar vertebrae Pelvis \- Hypoplastic iliac wings \- short femoral neck Limbs \- Cubitus valgus \- Fibular hypoplasia Hands \- Brachydactyly \- Camptodactyly (2nd-5th fingers) \- Tubular metacarpal bones \- Short hands Feet \- Syndactyly \- Hallux valgus \- short feet \- Short metatarsals (4th-5th) SKIN, NAILS, & HAIR Skin \- Sacral dimple \- Pigmented nevi NEUROLOGIC Central Nervous System \- Seizures \- Mental retardation ▲ 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
|
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I
|
c1859359
| 27,761 |
omim
|
https://www.omim.org/entry/211910
| 2019-09-22T16:30:14 |
{"mesh": ["C537970"], "omim": ["211910"], "orphanet": ["1327"], "synonyms": ["Alternative titles", "FACIOTHORACOSKELETAL SYNDROME"]}
|
A number sign (#) is used with this entry because infantile myofibromatosis-1 (IMF1) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32.
Description
Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006).
### Genetic Heterogeneity of Infantile Myofibromatosis
See also IMF2 (615293), caused by mutation in the NOTCH3 gene (600276).
Clinical Features
Congenital generalized fibromatosis is a rare disorder characterized by multiple fibroblastic tumors involving skin, striated muscles, bones, and viscera. The tumors are present at birth or develop during the first weeks of life. This disorder was described by Stout (1954), who distinguished it from other forms of juvenile fibromatosis. The radiologic findings are similar to those of Ollier disease (166000). Multiple cystic lesions involve the metaphyses. Multiple soft tissue nodules occur (Shnitka et al., 1958), as in multiple neurofibromatosis (162200), but a cutaneous pigmentary anomaly is not a feature.
Familusi et al. (1976) observed gingival hypertrophy and ankylosis of many joints in a Nigerian infant with congenital generalized fibromatosis.
Baer and Radkowski (1973) distinguished congenital multiple fibromatosis which carries a better prognosis because viscera are not affected. According to their tabulation of reported cases, Bartlett et al. (1961) and Kauffman and Stout (1965) reported patients of both categories. Stout (1954) and Teng et al. (1963) dealt with congenital generalized fibromatosis and Heiple et al. (1972) reported on congenital multiple fibromatosis (despite the title of his paper). Some consider the tumors a form of hamartomatosis since they often contain smooth muscle and vascular channels in addition to fibrous tissue.
Chung and Enzinger (1981) preferred the term juvenile myofibromatosis because of the presumed myofibroblastic origin of the cells. The prognosis is poor when several internal organs are affected; 80% of such infants are said to die in the first 4 months of life. On the other hand, complete spontaneous regression has been observed (Teng et al., 1963). These characteristics are reminiscent of those of neuroblastoma (256700).
Venencie et al. (1987) described infant brothers with cutaneous and skeletal myofibromas. The cutaneous lesions healed spontaneously and completely.
Castro et al. (1987) reported a case of multicentric fibromatosis in a 35-year-old woman who had first onset of a cutaneous tumor at age 5 years. Although the parents came from Jewish lineages that had resided in the same city in Morocco for many generations, no consanguinity was known. One aunt and a female cousin had similar subcutaneous tissues, but the sibs, parents, and grandparents were apparently free of tumors.
Bracko et al. (1992) described 2 brothers with multicentric infantile myofibromatosis. In both, tumors were present at birth; the tumors regressed spontaneously but new lesions developed throughout the follow-up periods of 15 and 8 years.
Narchi (2001) described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. A healthy woman, married to her first cousin, had 4 children, 3 of whom (2 sons and 1 daughter) were diagnosed with infantile myofibromatosis, confirmed by histopathologic studies. Some lesions recurred and one of the sibs developed intraorbital and intracranial myofibromas that required surgery. After a divorce, the woman married her previous husband's half brother (from the same father) who was also healthy. Their first 2 children were unaffected, but the third child, who was female, also developed myofibromatosis. The parents themselves denied having neonatal lesions that spontaneously regressed.
Ikediobi et al. (2003) reported a 3-generation family with infantile myofibromatosis. The proband presented on the first day of life with multiple cutaneous firm, rubbery, flesh-colored nodules on the scalp, lateral aspect of the left thigh, and left side of the back. Histopathology of 1 lesion showed a deep dermal proliferation of spindle cells, with minimal atypia and rare mitotic figures, consistent with the diagnosis of myofibroma. MRI of the chest and abdomen showed 2 small nodules within the right paraspinal muscle; no skeletal or other visceral lesions were evident. By 6 months of age, her skin nodules involuted to firm, subcutaneous depressions. She had no systemic manifestations. Family history revealed that her father, paternal grandfather, and paternal aunt had similar skin nodules at birth that spontaneously resolved without systemic sequelae. The patient's paternal aunt had 4 affected children. One child had skin myofibromas, skeletal myofibromas, and 1 ocular myofibroma that resulted in enucleation of the affected eye. Another child had myofibromas in the peritoneal cavity resulting in intestinal obstruction, multiple operative procedures, and permanent colostomy. The other 2 children had skin-limited disease.
De Montpreville et al. (2004) reported an unusual case of infantile myofibromatosis in a 12.5-month-old girl who presented with hemiplegia and was found to have an ischemic cerebral lesion. Echocardiography revealed 2 small 1 to 1.5-cm nodules in the left atrium; both were surgically excised. Histologic examination showed spindle-shaped cells arranged in bundles, rare mitotic figures, and fibrosis, consistent with myofibromatosis. The underlying mitral valvular base was only superficially invaded, and de Montpreville et al. (2004) suggested that this child did not have a visceral form of the disorder, but rather that the lesions in the heart represented a subendothelial lesion. The patient had no other obvious skin lesions and no visceral involvement. As a neonate, her father had had congenital fibromatosis of the laryngeal nerve as well as cutaneous nodules, suggesting autosomal dominant inheritance of the disorder.
In a family reported by Zand et al. (2004) in which there were 3 proven instances of male-to-male transmission and 2 other suspected instances, the proband presented at birth with a mass in the superficial soft tissue of the left upper quadrant of the abdominal wall. At 3 weeks of age, an additional mass was noted behind his left knee, while at 6 weeks of age the abdominal wall mass regressed. The family history was notable for a brother and father who had been diagnosed with biopsy-proven infantile myofibromatosis. The proband of the second family reported by Zand et al. (2004) was evaluated at 3 years of age for a persistent 'scalp mass' which had presented during infancy. A mass was also present on the shoulder. By the age of 16 years, she had developed a total of 6 soft tissue lesions without complication. Her father and a paternal first cousin with biopsy-proven infantile myofibromatosis, but had a much more complicated clinical course. The father developed both soft tissue and visceral lesions throughout his life, including lesions in his meninges, kidney, and vocal cords, requiring tracheotomy placement. At 9 months of age the proband's first cousin developed an intususseption. Pathology obtained during surgical repair was consistent with multiple myofibromas, which presumably served as a lead point to the intususseption. The proband of another family reported by Zand et al. (2004) presented at birth with a large pedunculated mass attached to the right parietooccipital scalp. Cranial imaging and pathologic findings confirmed solitary infantile myofibromatosis. Her brother had previously undergone surgery in infancy for a small thigh mass, also found to be a myofibroma.
Cheung et al. (2013) reported 4 unrelated families with autosomal dominant infantile myofibromatosis. One family was of Chinese origin with affected father and 2 children. The father had a solitary myofibroma at an early age that did not require further treatment. The son was diagnosed at age 4 years with multiple myofibromas of the skin, most of which spontaneously regressed. The daughter presented at age 6 months with multiple myofibromas of the skin and visceral myofibroma of the orbit and supranasal region. In a second family, the mother had multiple subcutaneous myofibromas on the head and neck, shoulder, back, and abdominal wall. Her son had onset in the first year of life of multiple lesions on the abdominal wall and left upper gingival border. Affected members of the third family, of French Canadian origin, had had multiple myofibromas of the skin on the face and upper arms that spontaneously regressed at the age of 4 years, similar to their father. The fourth family was of European ancestry and had previously been reported by Smith and Orchard (2011). The 2 affected brothers were diagnosed with multiple myofibromas at ages 3 and 11 weeks, respectively, with no clinical evidence of visceral involvement. The mother had swelling in the left side of her neck at 7 months of age, which was found to be fibromatosis and subsequently excised.
Inheritance
Hower et al. (1971) described affected half sisters with the same mother.
Bartlett et al. (1961) observed 4 cases among first cousins. The mother of affected brother and sister and the father of another affected brother-sister pair were sibs.
Although the report of Venencie et al. (1987) and other reports suggest autosomal recessive inheritance, such cannot explain the affected half sisters reported by Hower et al. (1971) and the cases of this disorder in a female infant and her father reported by Jennings et al. (1984).
Bracko et al. (1992) reviewed families with this disorder in more than one member. The occurrence of the disorder in 8 sets of sibs, with consanguinity in 2, favored autosomal recessive inheritance; as noted previously, however, the occurrence in half sisters and in successive generations favored autosomal dominant inheritance.
Narchi (2001) described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. From a review of the literature, Narchi (2001) concluded that autosomal recessive inheritance is most likely.
The transmission pattern of infantile myofibromatosis in the family reported by Ikediobi et al. (2003) was consistent with autosomal dominant inheritance with variable penetrance, since the severity of the disorder differed within the family.
Zand et al. (2004) presented 3 families with infantile myofibromatosis inherited in an autosomal dominant manner. In one family, there were 3 proven instances of male-to-male transmission and 2 other suspected instances. Zand et al. (2004) were prompted to reassess reported pedigrees that had suggested autosomal recessive inheritance. They pointed out that most nodules tend to regress spontaneously, making family history difficult to obtain and/or confirm. They suggested that all infantile familial myofibromatosis may be autosomal dominant or, alternatively, there may be genetic heterogeneity.
Arcangeli and Calista (2006) reported a brother and sister, born to nonconsanguineous parents, with infantile myofibromatosis. Their review of the international literature showed that although most of the reported cases were sporadic, about 15 families, including theirs, had more than one affected family member.
Diagnosis
The diagnosis of infantile myofibromatosis is based on histopathologic grounds. Well-circumscribed nodules, formed by a central hemagiopericytoma-like vascular proliferation, are surrounded by sweeping fascicles of fibroblastic and myofibroblastic cells (summary by Arcangeli and Calista, 2006).
Molecular Genetics
In affected members of 4 unrelated families with infantile myofibromatosis, Cheung et al. (2013) identified the same heterozygous missense mutation in the PDGFRB (R561C; 173410.0003). The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. In addition, tumor tissue from 1 of the patients who carried a germline R561C mutation harbored a somatic PDGFRB mutation (N666K; 173410.0004) that was predicted to be damaging. Structural modeling indicated that the R561C mutation was located within the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. Modeling also predicted that the N666K mutation would favor an active kinase formation. In vitro functional studies were not performed. Sequencing of the PDGFRB gene in 5 individuals with nonfamilial IMF did not identify any causative mutations.
Martignetti et al. (2013) identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. Another family with the disorder carried a different heterozygous mutation in the PDGFRB gene (P660T; 173410.0004). Some of the families had previously been reported (Jennings et al., 1984; Ikediobi et al., 2003; Zand et al., 2004; de Montpreville et al., 2004).
### Associations Pending Confirmation
For discussion of a possible association between variation in the NDRG4 gene and infantile myofibromatosis, see 614463.0001.
INHERITANCE \- Autosomal dominant MUSCLE, SOFT TISSUES \- Myofibromatosis affecting skin, muscle, bone, and viscera \- Small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk \- Benign soft tissue developmental anomalies \- Dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology MISCELLANEOUS \- Onset at birth or in early childhood \- Tumors may show spontaneous regression \- Visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin \- Solitary disease is more common in males MOLECULAR BASIS \- Caused by mutation in the platelet-derived growth factor receptor, beta, gene (PDGFRB, 173410.0003 ) ▲ 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
|
MYOFIBROMATOSIS, INFANTILE, 1
|
c0432284
| 27,762 |
omim
|
https://www.omim.org/entry/228550
| 2019-09-22T16:27:53 |
{"doid": ["0080109"], "mesh": ["C562978"], "omim": ["228550"], "orphanet": ["2591"], "synonyms": ["Alternative titles", "MYOFIBROMATOSIS, JUVENILE", "FIBROMATOSIS, CONGENITAL GENERALIZED"]}
|
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
|
c4225222
| 27,763 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=487796
| 2021-01-23T18:28:23 |
{"omim": ["616737"], "synonyms": ["Takenouchi-Kosaki syndrome"]}
|
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Punctate acrokeratoderma freckle-like pigmentation
|
None
| 27,764 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99710
| 2021-01-23T16:53:35 |
{}
|
Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include "whitening of vision" or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Acute zonal occult outer retinopathy
|
c0730298
| 27,765 |
gard
|
https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy
| 2021-01-18T18:02:17 |
{"mesh": ["C538223"], "umls": ["C0730298"], "synonyms": ["AZOOR"]}
|
A number sign (#) is used with this entry because of evidence that ZTTK syndrome (ZTTKS) is caused by heterozygous mutation in the SON gene (182465) on chromosome 21q22.
Description
ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
Clinical Features
Zhu et al. (2015) reported a 5-year-old girl with developmental delay, seizures, minor dysmorphisms, macrocephaly, brain white matter abnormalities, intestinal atresia, and ventriculoseptal defect.
Takenouchi et al. (2016) described a male patient with postnatal growth retardation with relative macrocephaly, infantile hypotonia, severe intellectual disability, congenital heart disease, long slender extremities with hyperextensible joints, and smooth velvety skin. He showed distinctive facial features with a prominent forehead, curly hair, sparse eyebrows, epicanthal folds, a flat nasal bridge, protruding ears, a short nose, and full cheeks.
Kim et al. (2016) reported 20 unrelated patients, including a patient previously reported by Zhu et al. (2015), with a complex neurodevelopmental disorder associated with mild to severe intellectual disability. Many had neonatal feeding difficulties and hypotonia. Dysmorphic facial features included facial asymmetry, midface retraction, low-set ears, downslanting palpebral fissures, deep-set eyes, horizontal eyebrows, broad and/or depressed nasal bridge, and short philtrum. Fifteen patients had visual problems, such as cortical visual impairment, hypermetropia, optic atrophy, and strabismus. Brain imaging showed significant abnormalities in 89% of patients: these abnormalities varied and included abnormal gyral patterns, ventriculomegaly, arachnoid cysts, hypoplasia of the corpus callosum, cerebellar hypoplasia, and loss of periventricular white matter. About half of patients developed seizures between 1 and 6 years of age. About half had short stature, and many had various musculoskeletal abnormalities, such as hemivertebrae, scoliosis or kyphosis, contractures, joint hypermobility, and small hands and feet. Several patients had variable congenital malformations, including urogenital malformations (6 patients), heart defects (5 patients), gut malformations (3 patients), craniosynostosis (3 patients), and high or cleft palate (2 patients).
Tokita et al. (2016) reported 7 unrelated individuals, ranging in age from 3 to 23 years, with a severe multisystem developmental disorder. Poor feeding, respiratory difficulties, and hypotonia were noted soon after birth. Common dysmorphic facial features included frontal bossing, bitemporal narrowing, deep-set eyes, downslanting palpebral fissures, epicanthal folds, smooth philtrum, and thin lips. All patients had developmental delay, and some showed developmental regression; 3 had autism spectrum disorder. Visual problems were also common and included strabismus, exotropia, esotropia, nystagmus, visual loss, and optic atrophy. Variable musculoskeletal features included joint laxity, scoliosis, hemivertebrae, rib abnormalities, and arachnodactyly. Brain imaging of 5 of 6 patients showed various abnormalities, including enlarged ventricles, thin corpus callosum, arachnoid cysts, and periventricular leukomalacia. Three patients had decreased levels of IgA and/or IgG, and 2 had coagulation abnormalities. Five patients had congenital abnormalities of other organ systems, such as cardiac and urogenital.
Molecular Genetics
In a 5-year-old girl with ZTTK syndrome, Zhu et al. (2015) identified heterozygosity for a de novo frameshift mutation (182465.0001) in the SON gene.
In a 13-year-old boy with ZTTKS, Takenouchi et al. (2016) identified heterozygosity for the same frameshift mutation in the SON gene that had been identified by Zhu et al. (2015).
In 20 unrelated patients with ZTTKS, including the patient reported by Zhu et al. (2015), Kim et al. (2016) identified de novo heterozygous truncating mutations in the SON gene (see, e.g., 182465.0001-182465.0004). The mutations, which were found by whole-exome sequencing, were demonstrated to result in haploinsufficiency. Four patients carried the same frameshift mutation (182465.0001). Examination of cells from 3 of the patients with SON haploinsufficiency showed decreased mRNA expression and abnormal RNA splicing products of multiple genes that play a role in neuronal cell migration, brain development, and metabolism (e.g., FLNA, 300017 and TUBG1, 191135). Similar gene dysregulation was observed in HeLa cells with knockdown of the SON gene. The findings demonstrated that SON is a master RNA splicing regulator with an important role in neurodevelopment.
In 6 unrelated patients with ZTTKS, Tokita et al. (2016) identified de novo heterozygous truncating mutations in the SON gene (see, e.g., 182465.0001; 182465.0005-182465.0007). The patients were ascertained by whole-exome sequencing of over 6,000 patients, primarily children, with neurologic disorders. Two of the patients carried the recurrent frameshift mutation (182465.0001). A seventh patient with 2 de novo missense mutations in cis was subsequently identified. Functional studies of the variants and studies of patient cells were not performed, but the findings suggested that haploinsufficiency for the SON gene is responsible for the phenotype, which may represent a spliceosomal disorder.
Animal Model
Kim et al. (2016) found that haploinsufficiency of the son gene in zebrafish embryos resulted in multiple developmental defects, including bent and shortened tails, eye malformations, microcephaly, and deformed body axes with body curvatures. Embryos that survived longer developed even more severe phenotypes including spinal malformations and brain edema.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Failure to thrive \- Poor overall growth HEAD & NECK Face \- Facial asymmetry \- Frontal bossing \- Midface retraction \- Short philtrum Ears \- Low-set ears Eyes \- Downslanting palpebral fissures \- Deep-set eyes \- Cortical visual impairment \- Hypermetropia \- Optic atrophy \- Strabismus Nose \- Broad nasal bridge \- Depressed nasal bridge Mouth \- Small mouth \- Thin upper lip \- High-arched palate \- Cleft palate Teeth \- Dental abnormalities CARDIOVASCULAR Heart \- Congenital heart defects (in some patients) CHEST Ribs Sternum Clavicles & Scapulae \- Rib abnormalities ABDOMEN Gastrointestinal \- Feeding difficulties \- Gastrointestinal malformations (in some patients) GENITOURINARY \- Urogenital malformations (in some patients) Kidneys \- Single kidney \- Horseshoe kidney \- Dysplastic kidney SKELETAL \- Joint contractures \- Joint hypermobility Skull \- Craniosynostosis Spine \- Scoliosis \- Kyphosis \- Hemivertebrae Hands \- Small hands Feet \- Small feet MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed development \- Intellectual disability \- Developmental regression \- Seizures (in some patients) \- Hypotonia \- Abnormal gyration patterns \- Enlarged ventricles \- Thin corpus callosum \- Arachnoid cysts \- Cerebellar hypoplasia \- White matter abnormalities IMMUNOLOGY \- Decreased immunoglobulin levels (in some patients) MISCELLANEOUS \- Variable features \- Mutations occur de novo MOLECULAR BASIS \- Caused by mutation in the SON DNA-binding protein gene (SON, 182465.0001 ) ▲ 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
|
ZTTK SYNDROME
|
c4310696
| 27,766 |
omim
|
https://www.omim.org/entry/617140
| 2019-09-22T15:46:42 |
{"omim": ["617140"], "orphanet": ["500150"], "synonyms": ["ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME", "Alternative titles", "ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME"]}
|
Neoplasms of the nailbed may often present with paronychia, ingrown nail, onycholysis, pyogenic granuloma, nail-plate dystrophy, longitudinal erythronychia, bleeding, and discolorations.[1]:792 There are various benign and malignant neoplasms that may occur in or overlying the nail matrix and in the nailbed, and symptoms may include pain, itching, and throbbing.[1]:792
Benign tumors of the nails include verruca, pyogenic granuloma, fibromas, nevus cell nevi, myxoid cysts, angiofibromas (Koenen tumors), and epidermoid cysts.[1]:792
Squamous cell carcinoma of the nailbed is uncommon, and often mistaken for a pyogenic granuloma initially.[1]:792 Subungual melanoma is frequently diagnosed late in the course of growth.[1]:793[2]
## References[edit]
1. ^ a b c d e James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ "Nails Matsun Supplement". Matsun Nutrition. Retrieved 2017-01-07.
This condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
* v
* t
* e
Cancers of skin and associated structures
Glands
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* Papillary eccrine adenoma
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Hamartoma
* Basaloid follicular hamartoma
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* Folliculosebaceous-apocrine hamartoma
Nails
* Neoplasms of the nailbed
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Neoplasms of the nailbed
|
None
| 27,767 |
wikipedia
|
https://en.wikipedia.org/wiki/Neoplasms_of_the_nailbed
| 2021-01-18T18:36:09 |
{"orphanet": ["300515"], "synonyms": [], "wikidata": ["Q16969179"]}
|
Duodenal-type follicular lymphoma
Other namesDuodenal follicular lymphoma
SpecialtyHematology, oncology
Duodenal-type follicular lymphoma (DFL) is a form of lymphoma in which certain lymphocyte types, the B-cell-derived centrocytes and centroblasts, form lymph node follicle-like structures principally in the duodenum and other parts of the small intestine. It is an indolent disease which on rare occasions progresses to a more aggressive lymphoma that spreads beyond these originally involved sites.[1]
The disorder now termed DFL had been considered to be a follicular lymphoma that develops in one or more sites of the GI tract (i.e. stomach, duodenum, jejunum, small intestine, large intestine and rectum) as well as in various sites outside of the GI tract; this contrasts with other forms of follicular lymphoma which do not involve the GI tract.[1] The disorder was regarded as a subtype of follicular lymphoma termed primary intestinal follicular lymphomas or Primary gastrointestinal tract follicular lymphomas.[2] However, follicular lymphomas of the duodenum and other parts of the small intestine differ from the other forms of primary intestinal lymphomas in that they are indolent, highly localizes disorders that have a low rate of progression to a systemic disease. In consequence, the World Health Organization (2017) kept the more widespread primary intestinal lymphomas within the follicular lymphoma category and reclassified duodenal-/small intestinal-localized lymphoma as a distinct disease entity, DFL.[3]
DFL, while currently considered a malignant disease, has many clinical features which are more similar to the benign predecessor of follicular lymphomas viz., in situ follicular lymphoma, than to follicular lymphoma.[4] Like in situ follicular lymphoma, DFL is most commonly a symptom-free disease that is diagnosed incidentally in patients who are undergoing endoscopy for other reasons.[2] Also like in situ follicular lymphoma, DFL may in rare cases regress spontaneously[4] or progress to a more serious and aggressive form.[5]
## Contents
* 1 Presentation
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Differential diagnoses
* 4 Treatment
* 5 References
## Presentation[edit]
DFL most commonly afflicts middle-aged adults with a male to female ration of ~1. The disease is usually asymptomatic and diagnosed as an unexpected finding when examining patients by upper GI tract endoscopy conducted for other reasons.[2] A minority of patients present vague abdominal symptoms[6] or, rarely, more specific and serious symptoms such as obstructive jaundice caused by tumors in the duodenum which occlude the bile duct.[7] The endoscopic examination typically reveals one or more polyps, nodules, or confluent whitish granules located in various parts of the GI tract[7] which in a study of 54 patients conducted in Japan were distributed as follows: first (i.e. superior or bulbus) part of the duodenum, 4 patients; second (i.e. descending) part of the duodenum, 54 patients; combined third (i.e. horizontal or inferior), and fourth (i.e. ascending) part of the duodenum, 31 patients; jejunum, 44 patients; ileum, 17 patients; cecum, 13 patients; colon and rectum, each 2 patients; and stomach and esophagus, no patients. Lesions were limited to the second part of the duodenum in only 7 patients.[1] In some cases, the lesions may be ulcerated.[6]
## Pathophysiology[edit]
DFL is due to the accumulation of monoclonal (i.e. cells descendent from a single ancestral cell) centrocytes and their precursor centroblasts to form follicle-like structures in the duodenum and other parts of the small intestine. In virtually all cases of the disease, these cells bear a pathological genomic abnormality that is typical of most but not all forms of follicular lymphoma, i.e. a translocation between position 32 on the long (i.e. "q") arm of chromosome 14 and position 21 on chromosome 18's q arm. This t(14:18)q32:q21) translocation juxtaposes the B-cell lymphoma 2 (BCL2) gene on chromosome 18 at position q21.33 near to the immunoglobulin heavy chain locus (IGH@) on chromosome 14 at position q21, and in consequence causes the overexpression of this gene's product protein, BCL2 apoptosis regulator (i.e. Bcl2). Blc2 functions to inhibit programmed cell death thereby prolonging cell survival.[8] The overexpression of Bcl2 in the B-cells of ISFL is thought to be a critical factor in their pathological accumulation and subsequent malignant progression.[7] Gene expression profiling studies find that the tissues involved in DFP highly express certain genes that are unlike those expressed by the tissues in other forms of follicular lymphoma and more closely match those expressed by the tissues in MALT lymphoma, a lymphoma involving the mucosa-associated lymphoid tissue of the GI tract, airways, conjunctiva, vulvo-vagina tract, and skin. The highly express genes in both disorders include: 1) CCL20, a chemokine that is a chemoattractant for lymphocytes and 2) MAdCAM-1, a cell adhesion protein on mucosal vascular endothelial cells that binds to the α4β7 homing receptor on lymphocytes.[9] and 3) C-C chemokine receptor type 6, which is the lymphocyte receptor for CCL20.[7] Working together, these genomic abnormalities are thought to deliver virtually immortalized centrocytes and centroblases to the involved GI tract tissues in duodenal-type follicular lymphoma.[1] Furthermore, The malignant cells in DFL express immunoglobulin heavy chains made from specific rather than various gene segments of the IGH@ region on chromosome 14. In one study, for example, heavy chains made form VH4 and VH5 segments were expressed in a higher percentage of DFL cases than expected. These findings, along with those showing similarities in the profiles of highly expressed genes in DFL and mantle cell lymphoma suggest that DFL, like mantle cell lymphoma, develops as a consequence of chronic inflammation and specific antigen stimulation. In support of this possibility, there have been reports that DFL regresses in patients who are successfully treated for concurrent Helicobacter pylori infestation of the GI tract.[6]
## Diagnosis[edit]
Histological examination of the lesions in DFL usually reveals them to be localized to the GI tract mucosa and submucosa.[6] The lesions consist of abnormal germinal center-containing lymphoid follicles overcrowded with a uniformly-sized population of malignant centrocytes and rare centroblasts.[6] The lesions are classified as low grade (i.e. Lugano classification Grades 1 or 2) in 95-100% of cases. Immunochemical analyses indicate that the latter cells express CD20, CD10, BCL6,[2] and CD79A[6] and have a very low proliferation rate as defined by the intensity of their expression of Ki-67.[6] They also overexpress Bcl2 as a consequence of having the t(14:18)q32:q21) translocation. These findings are similar to those in follicular lymphoma but the malignant cells in DFL generally have fewer genomic abnormalities than those in follicular lymphoma and the profile of overexpressed genes in DFL tissues more closely resemble those in marginal zone than follicular lymphoma tissues. The diagnosis of DFL depends on finding: the cited histological, and immunolochemical abnormalities; the t(14:18)q32:q21) translocation; and no evidence that the disease ranges outside of the GI tract as evidenced by negative results for, e.g. bone marrow biopsy and CT scan of the abdomen which thereby rule out involvement of the bone marrow and mesenteric as well as other abdominal lymph node, respectively.[2]
### Differential diagnoses[edit]
Follicular lymphoma differs from DFL by having: lesions which commonly lie outside of the GI tract sites outlined in the Presentation section;[1] a histology more often categorized as Grade 3; and malignant cells that express activation-induced cytidine deaminase[6] but not CD27,[9] CCL20, MAdCAM-1, or C-C chemokine receptor type 6.[7]
MALT lymphoma differs from DFL by having: lesions which commonly lie in the stomach and other tissues outside of the GI tract sites outlined in the Presentation section[6] (except for a special subtype of malt lymphoma termed immunoproliferative small intestinal disease that is endemic to the Middle East[10]); involvement of malignant B-cells that do not express CD5, CD10, or BCL6 and commonly have a translocation between chromosomes 18 and 11, i.e. t(11:18) but not the t(14:18)q32:q21) translocation;[6] and associations with chronic inflammatory diseases and chronic antigen stimulation;[6]
Mantle cell lymphoma differs from DFL by having: only occasional involvement of the GI tract with polyps that on histologic examination may involve the lamina propria and often infiltrate between rather that replacing intestinal glands and malignant cells which commonly express cyclin D1 and a translocation between chromosomes 11 and 14, i.e. t(11:14) but not the t(14:18)q32:q21). translocation.[6]
## Treatment[edit]
DFL is generally an indolent disease which progresses to a more aggressive form in <10% of cases.[2] A watch-and-wait strategy has been a generally recommended treatment for the disease in the United States,[2] Japan,[9] and Europe.[7] However, numerous approaches have been used to treat the disease. Patients with disease that is contained within a limited radiation field have been treated with radiation therapy to attain overall 10 year survival rates of 60-80%. However, one study found that radiation-treated patients had a relapse rate of 48%. A retrospective analysis conducted on a small number (i.e. 63) of patients found complete regression rates for a watch-and-wait tactic, radiotherapy, and rituximab (a monoclonal antibody directed against CD20) of 29%, 100%, 80%, respectively. The complete regression rate for a CHOP chemotherapy regimen, CHOP plus rituximab regimen, radiotherapy plus rituximab regimen, pancreaticoduodenectomy (i.e. surgical removal of the duodenum and pancreas), and other chemotherapeutic regimens, when combined as a single group, was 64%. Only two patients in this study had diseases which progressed to outside of the GI tract; both were in the watch-and-wait group. Until further studies are conducted to define the optimal regimens for treating DFL, most patients with the disease are being initially treated with a watch-and-wait approach in order to avoid the toxic side-effects of the cited alternate regimens.[6]
## References[edit]
1. ^ a b c d e Takata K, Miyata-Takata T, Sato Y, Yoshino T (2014). "Pathology of follicular lymphoma". Journal of Clinical and Experimental Hematopathology. 54 (1): 3–9. doi:10.3960/jslrt.54.3. PMID 24942941.
2. ^ a b c d e f g Weindorf SC, Smith LB, Owens SR (November 2018). "Update on Gastrointestinal Lymphomas". Archives of Pathology & Laboratory Medicine. 142 (11): 1347–1351. doi:10.5858/arpa.2018-0275-RA. PMID 30407861.
3. ^ Yoshino T, Takata K, Tanaka T, Sato Y, Tari A, Okada H (December 2018). "Recent progress in follicular lymphoma in Japan and characteristics of the duodenal type". Pathology International. 68 (12): 665–676. doi:10.1111/pin.12733. PMID 30456840. S2CID 53871784.
4. ^ a b Xerri L, Dirnhofer S, Quintanilla-Martinez L, Sander B, Chan JK, Campo E, et al. (February 2016). "The heterogeneity of follicular lymphomas: from early development to transformation". Virchows Archiv. 468 (2): 127–39. doi:10.1007/s00428-015-1864-y. PMID 26481245. S2CID 2978889.
5. ^ Lynch RC, Gratzinger D, Advani RH (July 2017). "Clinical Impact of the 2016 Update to the WHO Lymphoma Classification". Current Treatment Options in Oncology. 18 (7): 45. doi:10.1007/s11864-017-0483-z. PMID 28670664. S2CID 4415738.
6. ^ a b c d e f g h i j k l m Marks E, Shi Y (April 2018). "Duodenal-Type Follicular Lymphoma: A Clinicopathologic Review". Archives of Pathology & Laboratory Medicine. 142 (4): 542–547. doi:10.5858/arpa.2016-0519-RS. PMID 29565210.
7. ^ a b c d e f Foukas PG, de Leval L (January 2015). "Recent advances in intestinal lymphomas". Histopathology. 66 (1): 112–36. doi:10.1111/his.12596. PMID 25639480.
8. ^ EntrezGene 596
9. ^ a b c Takata K, Miyata-Takata T, Sato Y, Iwamuro M, Okada H, Tari A, Yoshino T (January 2018). "Gastrointestinal follicular lymphoma: Current knowledge and future challenges". Pathology International. 68 (1): 1–6. doi:10.1111/pin.12621. PMID 29292593. S2CID 206275496.
10. ^ Thieblemont C, Zucca E (2017). "Clinical aspects and therapy of gastrointestinal MALT lymphoma". Best Practice & Research. Clinical Haematology. 30 (1–2): 109–117. doi:10.1016/j.beha.2017.01.002. PMID 28288705.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Duodenal-type follicular lymphoma
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c4524187
| 27,768 |
wikipedia
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https://en.wikipedia.org/wiki/Duodenal-type_follicular_lymphoma
| 2021-01-18T18:37:50 |
{"umls": ["CL525720"], "wikidata": ["Q85757936"]}
|
Neurologic disorder
Pseudobulbar affect
Other namesEmotional incontinence
SpecialtyPsychiatry, neurology
CausesBrain trauma, ALS
Pseudobulbar affect (PBA), or emotional incontinence, is a type of emotional disturbance characterized by uncontrollable episodes of crying, laughing, anger or other emotional displays. PBA occurs secondary to a neurologic disorder or brain injury. Patients may find themselves crying uncontrollably at something that is only moderately sad, being unable to stop themselves for several minutes. Episodes may also be mood-incongruent: a patient may laugh uncontrollably when angry or frustrated, for example. Sometimes, the episodes may switch between emotional states, resulting in the patient crying uncontrollably before dissolving into fits of laughter.
The pseudobulbar affect, also referred to as emotional lability, should not be confused with labile mood or labile emotions that stem from emotional instability – affective dysregulation – commonly seen in personality disorders.
## Contents
* 1 Signs and symptoms
* 1.1 Social impact
* 1.2 Depression
* 2 Causes
* 2.1 Secondary condition
* 2.2 Stroke
* 2.3 Multiple sclerosis
* 2.4 Amyotrophic lateral sclerosis
* 2.5 Traumatic brain injury
* 3 Treatment
* 3.1 Medication
* 4 Epidemiology
* 5 History
* 6 Terminology
* 7 In popular culture
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
The cardinal feature of the disorder is a pathologically lowered threshold for exhibiting the behavioral response of laughter, crying, anger or all of the above. An affected individual exhibits episodes of laughter, crying, anger or a combination of these without an apparent motivating stimulus or in response to stimuli that would not have elicited such an emotional response before the onset of their underlying neurologic disorder. In some patients, the emotional response is exaggerated in intensity but is provoked by a stimulus with an emotional valence congruent with the character of the emotional display. For example, a sad stimulus provokes a pathologically exaggerated weeping response instead of a sigh, which the patient normally would have exhibited in that particular instance.
However, in some other patients, the character of the emotional display can be incongruent with, and even contradictory to, the emotional valence of the provoking stimulus or may be incited by a stimulus with no clear valence. For example, a patient may laugh in response to sad news or cry in response to stimuli with no emotional undertone, or, once provoked, the episodes may switch from laughing to crying or vice versa.[1]
The symptoms of PBA can be severe, with persistent and unremitting episodes.[2] Characteristics include:
* The onset can be sudden and unpredictable, and has been described by some patients as coming on like a seizure;
* The outbursts have a typical duration of a few seconds to several minutes; and,
* The outbursts may happen several times a day.
Many people with neurologic disorders exhibit uncontrollable episodes of laughing, crying, or anger that are either exaggerated or contradictory to the context in which they occur. Where patients have significant cognitive deficits (e.g., Alzheimer's) it can be unclear whether it is true PBA as opposed to a grosser form of emotional dysregulation, but patients with intact cognition often report the symptom as disturbing. Patients report that their episodes are at best only partially amenable to voluntary control, and unless they experience a severe change of mental status, as in Traumatic Brain Injury they often have insight into their problem and judge their emotional displays as inappropriate and out of character. The clinical effect of PBA can be severe, with unremitting and persistent symptoms that can be disabling to patients, and may significantly affect quality of life for caregivers.[citation needed]
### Social impact[edit]
While not as profoundly disabling as the physical symptoms of these diseases, PBA may significantly influence individuals' social functioning and their relationships with others. Such sudden, frequent, extreme, uncontrollable emotional outbursts may lead to social withdrawal and interfere with activities of daily living, social and professional pursuits, and reduce overall healthcare. For example, patients with ALS and MS are often cognitively normal. However, the appearance of uncontrollable emotions is commonly associated with many additional neurological disorders such as attention deficit/hyperactivity disorder,[3] Parkinson's disease,[4] cerebral palsy,[5] autism,[6] epilepsy,[7] and migraines.[8] This may lead to avoidance of social interactions for the patient, which in turn impairs their coping mechanisms and their careers.[2][9][10][11][12]
Several criteria exist to differentiate between PBA and depression.
### Depression[edit]
PBA may often be misdiagnosed as clinical depression or bipolar disorder; however, many clear distinctions exist.
In depressive and bipolar disorders, crying, anger or laughter are typically a indicative of mood, whereas the pathological displays of crying which occur in PBA are often in contrast to the underlying mood, or greatly in excess of the mood or eliciting stimulus. In addition, a key to differentiating depression from PBA is duration: PBA episodes are sudden, occurring in an episodic manner, while crying in depression is a more sustained presentation and closely relates to the underlying mood state. The level of control that one has over the crying, anger or other emotional displays in PBA is minimal or nonexistent, whereas for those suffering from depression, the emotional expression (typically crying) can be modulated by the situation. Similarly, the trigger for episodes of crying in patients with PBA may be nonspecific, minimal or inappropriate to the situation, but in depression the stimulus is specific to the mood-related condition. These differences are outlined in the adjacent Table.
In some cases, depressed mood and PBA may co-exist. Since depression is one of the most common emotional changes in patients with neurodegenerative disease or post-stroke sequelae, it is often comorbid with PBA. Comorbidity implies that depression is distinct from PBA and is not necessary for, nor does it exclude, a diagnosis of PBA.[13]
## Causes[edit]
The specific pathophysiology involved in this frequently debilitating condition is still under investigation; the primary pathogenic mechanisms of PBA remain controversial.[14] One hypothesis, established by early researchers such as Wilson and Oppenheim, placed emphasis on the role of the corticobulbar pathways in modulating emotional expression in a top-down model, and theorized that PBA occurs when bilateral lesions in the descending corticobulbar tract cause failure of voluntary control of emotion, which leads to the disinhibition, or release, of laughing/crying centers in the brainstem.[15] Other theories implicate the prefrontal cortex.[16]
### Secondary condition[edit]
PBA is a condition that occurs secondary to neurological disease or brain injury, and is thought to result from disruptions of neural networks that control the generation and regulation of motor output of emotions. PBA is most commonly observed in people with neurologic injuries such as traumatic brain injury (TBI) and stroke,[15][17] and neurologic diseases such as dementias including Alzheimer's disease, attention deficit/hyperactivity disorder (ADHD),[3][18] multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), PANDAS in children and adults, and Parkinson's disease (PD). It has been reported as a symptom of hyperthyroidism, Graves' Disease, or hypothyroidism in combination with depression.[19]
PBA has also been observed in association with a variety of other brain disorders, including brain tumors, Wilson's disease, syphilitic pseudobulbar palsy, and various encephalitides. Rarer conditions associated with PBA include gelastic epilepsy, dacrystic epilepsy, central pontine myelinolysis, olivopontinocerebellar atrophy, lipid storage diseases, chemical exposure (e.g., nitrous oxide and insecticides), fou rire prodromique, and Angelman syndrome.
It is hypothesized that these primary neurologic injuries and diseases affect chemical signaling in the brain, which in turn disrupts the neurologic pathways that control emotional expression.[20][21][22]
### Stroke[edit]
PBA is one of the most frequently reported post-stroke behavioral syndromes, with a range of reported prevalence rates from 28% to 52%.[23][24][25] The higher prevalence rates tend to be reported in stroke patients who are older or who have a history of prior stroke.[26][27] The relationship between post-stroke depression and PBA is complicated, because the depressive syndrome also occurs with high frequency in stroke survivors. Post-stroke patients with PBA are more depressed than post-stroke patients without PBA, and the presence of a depressive syndrome may exacerbate the weeping side of PBA symptoms.[23][28]
### Multiple sclerosis[edit]
Recent studies suggest that approximately 10% of patients with multiple sclerosis (MS) will experience at least one episode of emotional lability.[29][30] PBA is generally associated with later stages of the disease (chronic progressive phase).[25] PBA in MS patients is associated with more severe intellectual deterioration, physical disability, and neurological disability.[31]
### Amyotrophic lateral sclerosis[edit]
A study designed specifically to survey for prevalence found that 49% of patients with amyotrophic lateral sclerosis (ALS) also had PBA.[9] PBA does not appear to be associated with duration of ALS.[32][33] It is a symptom of ALS that many patients are unaware of and do not receive information about from their physician.[34]
### Traumatic brain injury[edit]
One study of 301 consecutive cases in a clinic setting reported a 5% prevalence. PBA occurred in patients with more severe head injury, and coincided with other neurological features suggestive of pseudobulbar palsy.[35]
The Brain Injury Association of America (BIAA) indicates that approximately 80% of survey respondents experience symptoms of PBA.[36] Results from a recent investigation estimate the prevalence of PBA associated with traumatic brain injury to exceed more than 55% of survivors.[37]
## Treatment[edit]
Education of patients, families, and caregivers is an important component of the appropriate treatment of PBA. Crying associated with PBA may be incorrectly interpreted as depression; laughter may be embarrassing, anger can be debilitating. It is therefore critical for families and caregivers to recognize the pathological nature of PBA and the reassurance that this is an involuntary syndrome that is manageable. Traditionally, antidepressants such as sertraline,[38] fluoxetine,[39] citalopram,[40] nortriptyline[41] and amitriptyline[42] have been prescribed with some efficacy.
### Medication[edit]
Dextromethorphan hydrobromide affects the signals in the brain that trigger the cough reflex. It is used as a cough suppressant, although it can sometimes be used, medicinally, as a pain reliever, and is also used as a recreational drug.[43]
Quinidine sulfate affects the way the heart beats, and is generally used in people with certain heart rhythm disorders. It is also used to treat malaria.[44] Quinidine sulfate, as a metabolic inhibitor, "increases plasma levels of dextromethorphan by competitively inhibiting cytochrome P450 2D6, which catalyzes a major biotransformation pathway for dextromethorphan," enabling therapeutic dextromethorphan concentrations.[45]
Dextromethorphan/quinidine is a combination of these two generic drugs, and is the first FDA-approved drug for the treatment of PBA, approved on October 29, 2010.[46]
For this multicenter study, the "Objectives...[were] to evaluate the safety, tolerability, and efficacy of two different doses of AVP-923 [Dextromethorphan/quinidine combination]...when compared to placebo."[47] The conditions and results of that study are as follows:
> At one study site, a total of 326 participants received one of three dose options. "METHODS: In a 12-week randomized, double-blind trial, ALS and MS patients with clinically significant PBA" were given a twice-daily dose of one of the following:
>
> * placebo (N=109)
> * dextromethorphan hydrobromide 30 mg/quinidine sulfate 10 mg (N=110)
> * Nuedexta – dextromethorphan hydrobromide 20 mg/quinidine sulfate 10 mg (N=107)
>
>
> 283 patients (86.8%) completed the study. The number of PBA episodes (laughing, crying or aggressive outbursts) were 47% and 49% lower (based on the trial's outcome measures), respectively, for the drug-combination options than for the placebo. The "mean CNS-LS scores" decreased by 8.2 points for both drug-combination options, vs a decrease of 5.7 points for the placebo.
>
> Overall, the trial showed a statistically significant benefit from taking a combination of dextromethorphan and quinidine, with both dosages being safe and well tolerated. For a secondary objective measuring a participant's "perceived health status...measuring eight health concepts: vitality, physical functioning, bodily pain, general health perceptions, physical role-, emotional role-, social role functioning, and mental health," the higher dosage showed improvement, especially on measures of social functioning and mental health.[47][48]
## Epidemiology[edit]
Prevalence estimates place the number of people with PBA between 1.5 and 2 million in the United States alone, which would be less than 1% of the U.S. population even at the high end of the estimate. Some argue that the number is probably higher and that clinicians underdiagnose PBA.[49] However, the prevalence estimate of 2 million is based on an online survey. Self-selected computer-savvy patients in at-risk groups evaluated their own symptoms and submitted their self-diagnoses. No doctor or clinic confirmed the data. Motivation to participate could have been influenced by the presence of symptoms, which would have skewed the results. The actual prevalence could very well be quite a bit lower than estimated.[50]
## History[edit]
The Expression of the Emotions in Man and Animals by Charles Darwin was published in 1872.[51] In Chapter VI, "Special Expressions of Man: Suffering and Weeping", Darwin discusses cultural variations in the acceptability of weeping and the wide differences in individual responses to suffering. The chapter contains the following sentence:
> We must not, however, lay too much stress on the copious shedding of tears by the insane, as being due to the lack of all restraint; for certain brain-diseases, as hemiplegia, brain-wasting, and senile decay, have a special tendency to induce weeping.[52]
## Terminology[edit]
Historically, there have been a variety of terms used for the disorder, including pseudobulbar affect, pathological laughter and crying, emotional lability, emotionalism, emotional dysregulation, or more recently, involuntary emotional expression disorder.[13] The term pseudobulbar (pseudo- \+ bulbar) came from the idea that the symptoms seemed similar to those caused by a bulbar lesion (that is, a lesion in the medulla oblongata).
Terms such as forced crying, involuntary crying, pathological emotionality, and emotional incontinence have also been used, although less frequently.[2]
## In popular culture[edit]
Signs of pseudobulbar affect were featured as affecting the title character of the 2019 film Joker,[53] and are said to be what Joaquin Phoenix used as inspiration for his character's titular laugh.
In the 2019 movie Parasite, the character Ki-woo suffers head trauma, and although it is not clearly mentioned that he's affected by pseudobulbar affect, he mentions not being able to stop laughing when thinking about all the events that occur in the movie.
In the medical television show House, season 7, episode 8 (Small Sacrifices), the character Ramon Silva, played by Kuno Becker displays pseudobulbar affect, with uncontrollable incongruent laughter, while suffering from Marburg variety of Multiple sclerosis.
In season 3, episode 9 of The Good Fight, the character Brenda DeCarlo, an external auditor, displays pseudobulbar affect, with uncontrollable incongruent laughter.
## See also[edit]
* Affect (psychology)
* Affect display
## References[edit]
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40. ^ Andersen, G; Vestergaard, K; Riis, J. O. (1993). "Citalopram for post-stroke pathological crying". The Lancet. 342 (8875): 837–9. doi:10.1016/0140-6736(93)92696-Q. PMID 8104273. S2CID 24445214.
41. ^ Robinson, RG; Parikh, RM; Lipsey, JR; Starkstein, SE; Price, TR (1993). "Pathological laughing and crying following stroke: Validation of a measurement scale and a double-blind treatment study". American Journal of Psychiatry. 150 (2): 286–93. doi:10.1176/ajp.150.2.286. PMID 8422080.
42. ^ Schiffer, Randolph B.; Herndon, Robert M.; Rudick, Richard A. (1985). "Treatment of Pathologic Laughing and Weeping with Amitriptyline". The New England Journal of Medicine. 312 (23): 1480–2. doi:10.1056/NEJM198506063122303. PMID 3887172.
43. ^ "Dextromethorphan (DXM)". Cesar.umd.edu. Archived from the original on 2013-07-26. Retrieved 2016-02-18.
44. ^ "Quinidine sulfate". PDRhealth™. 2016. Archived from the original on 2015-09-05. Retrieved 2016-02-18.
45. ^ "Label: NUEDEXTA- dextromethorphan hydrobromide and quinidine sulfate capsule, gelatin coated". U.S. National Library of Medicine, DailyMed. 2015-01-30. Archived from the original on 2016-03-03. Retrieved 2016-02-18.
46. ^ "Nuedexta, FDA Approval History". Drugs.com. January 2015. Archived from the original on 2016-03-03. Retrieved 2016-02-18.
47. ^ a b "Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS (STAR)". ClinicalTrials.gov. June 2013. Archived from the original on 2016-03-02. Retrieved 2016-02-19.
48. ^ Pioro, Erik P.; Brooks, Benjamin Rix; Cummings, Jeffrey; Schiffer, Randolph; Thisted, Ronald A.; Wynn, Daniel; Hepner, Adrian; Kaye, Randall (2010). "Dextromethorphan Plus Ultra Low-Dose Quinidine Reduces Pseudobulbar Affect". Annals of Neurology. 68 (5): 693–702. doi:10.1002/ana.22093. PMID 20839238. S2CID 2824842.
49. ^ Archiniegas DB, Lauterbach EC, Anderson KE, Chow TW, et al. (2005). "The differential diagnosis of pseudobulbar affect (PBA). Distinguishing PBA among disorders of mood and affect. Proceedings of a roundtable meeting". CNS Spectrums. 10 (5): 1–16. doi:10.1017/S1092852900026602. PMID 15962457.
50. ^ Brooks, Benjamin Rix; Crumpacker, David; Fellus, Jonathan; Kantor, Daniel; Kaye, Randall E (Aug 21, 2013). "PRISM: A Novel Research Tool to Assess the Prevalence of Pseudobulbar Affect Symptoms across Neurological Conditions". PLOS ONE. Public Library of Science. 8 (8): e72232. Bibcode:2013PLoSO...872232B. doi:10.1371/journal.pone.0072232. PMC 3749118. PMID 23991068.
51. ^ "Archived copy". Archived from the original on 2013-11-18. Retrieved 2013-10-26.CS1 maint: archived copy as title (link)
52. ^ p. 156 "Archived copy". Archived from the original on 2013-11-18. Retrieved 2013-10-26.CS1 maint: archived copy as title (link)
53. ^ "Joaquin Phoenix Reveals the Dark, Real World Origin of His Joker's Laugh". CBR. Retrieved 12 October 2019.
## External links[edit]
* "Pseudobulbar affect and stroke" on the National Stroke Association website
Classification
D
* ICD-10: F48.8
* ICD-10-CM: F48.2
* ICD-9-CM: 310.81
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Pseudobulbar affect
|
c2316460
| 27,769 |
wikipedia
|
https://en.wikipedia.org/wiki/Pseudobulbar_affect
| 2021-01-18T18:41:27 |
{"gard": ["12012"], "wikidata": ["Q3508789"]}
|
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Charcot-Marie-Tooth disease type 4G
|
c1854449
| 27,770 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99953
| 2021-01-23T18:07:23 |
{"gard": ["10132"], "mesh": ["C535813"], "omim": ["605285"], "umls": ["C1854449"], "icd-10": ["G60.0"], "synonyms": ["CMT4G", "HMSNR", "Hereditary motor and sensory neuropathy, Russe Type"]}
|
congenital disorder of digestive system
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Accessory pancreas" – news · newspapers · books · scholar · JSTOR (August 2020)
Accessory pancreas
SpecialtyGeneral surgery
Accessory pancreas is a rare condition in which small groups of pancreatic cells are separate from the pancreas. They may occur in the mesentery of the small intestine, the wall of the duodenum, the upper part of the jejunum, or more rarely, in the wall of the stomach, ileum, gallbladder or spleen. The condition was first described by Klob in 1859.[1]
Accessory pancreas is a small cluster of pancreas cells detached from the pancreas and sometimes found in the wall of the stomach or intestines.
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 References
* 4 External links
## Diagnosis[edit]
Pancreatic disorders are often accompanied by weakness and fatigue. The past Medical history may reveal previous disorders of the biliary tract or duodenum, abdominal trauma or surgery, and metabolic disorders such as diabetes mellitus. The medication history should be detailed and specifically include the use of thiazides, furosemide, estrogens, corticosteroids, sulfonamides, and opiates. Note a family history of pancreatic disorders. In the review of systems, obtain a complete description of any pain in the upper abdomen or epigastric area. Symptoms that may be important in relation to pancreatic disorders are pruritus, abdominal pain, dyspnea, nausea, and vomiting. The functional assessment includes data about the patient’s dietary habits and use of alcohol.
Note any restlessness, flushing, or diaphoresis during the examination. Vital signs may disclose low-grade fever, tachypnea, tachycardia, and hypotension. Inspect the skin for jaundice. Assess the abdomen for distention, tenderness, discoloration, and diminished bowel sounds.
Tests and procedures used to diagnose pancreatic disorders include laboratory analyses of blood, urine, stool, and pancreatic fluid, and imaging studies. Specific blood studies used to assess pancreatic function include measurements of serum amylase, lipase, glucose, calcium, and triglyceride levels. Urine amylase and renal amylase clearance tests may also be ordered. Stool specimens may be analyzed for fat content. The secretin stimulation test measures the bicarbonate concentration of pancreatic fluid after secretin is given intravenously to stimulate the production of pancreatic fluid.
## Treatment[edit]
Treatment of accessory pancreas depends on the location and extent of the injured tissue. Surgery may be an option, or some physicians order prophylactic antibiotics.
## References[edit]
1. ^ Klob J. Pancreas accessorium. Zeitschrift der Kaiserl. Königl. Gesellschaft der Aerzte zu Wien 1859; 15:732.
## External links[edit]
Classification
D
* ICD-10: Q45.3
* ICD-9-CM: 751.7
* MeSH: C536003
* v
* t
* e
Congenital malformations and deformations of digestive system
Upper GI tract
Tongue, mouth and pharynx
* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia
Esophagus
* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)
Stomach
* Pyloric stenosis
* Hiatus hernia
Lower GI tract
Intestines
* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst
Rectum/anal canal
* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia
Accessory
Pancreas
* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum
Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver disease
Authority control
* TA98: A05.9.01.018
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Accessory pancreas
|
c0266268
| 27,771 |
wikipedia
|
https://en.wikipedia.org/wiki/Accessory_pancreas
| 2021-01-18T18:37:21 |
{"gard": ["454"], "mesh": ["C536003"], "umls": ["C0266268"], "icd-9": ["751.7"], "icd-10": ["Q45.3"], "orphanet": ["674"], "wikidata": ["Q4672542"]}
|
A number sign (#) is used with this entry because of evidence that Ververi-Brady syndrome (VERBRAS) is caused by heterozygous mutation in the QRICH1 gene (617387) on chromosome 3p21.
Description
Ververi-Brady syndrome is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).
Clinical Features
Ververi et al. (2018) reported 3 unrelated children with developmental delay and variable additional features. All had variable and mild dysmorphic features, with common features including a prominent nose and wide mouth with thin upper lip. The first patient was noted to have delayed language acquisition and impaired social interaction around 2 years of age, and was diagnosed with autism spectrum disorder at 4.5 years. He was attending mainstream school with support at age 8. Dysmorphic features included flat malar region, long columella, smooth philtrum, protuberant lower lip, and mildly deformed toes. His overall growth was normal and he had no additional neurologic abnormalities. The second patient was a 12-year-old girl who showed delayed psychomotor development since infancy and had mild poor growth. She also attended a mainstream school, but had difficulty and was later home-schooled. She had an unsteady gait, leg pain after walking, frequent falls, intention tremor, decreased muscle tone and reflexes, and involuntary tongue movements. Dysmorphic features included ptosis and hypertelorism. The third patient was a 13-year-old Chinese girl who showed delayed walking and delayed speech acquisition in early childhood, but was able to attend a mainstream school with support. She had poor overall growth, microcephaly (-6 SD), and dysmorphic features, including brachycephaly, upslanting palpebral fissures, broad nose with broad nasal tip, low-set and cup-shaped ears, and transverse palmar creases. Two of the patients had mildly increased serum creatine kinase in the first years of life that later normalized.
Lui et al. (2019) identified 2 unrelated children, an 8-year-old girl and a 11 year-old boy, with features of Ververi-Brady syndrome, including short stature, irregular growth plates of the proximal phalanges, developmental delay, and mild dysmorphic facial features. The girl had a height of -2.5 SD, and the boy had a height within normal limits (-1.3 SD). Lui et al. (2019) suggested that QRICH1 mutations can cause a subtle chondrodysplasia and should be considered in the differential diagnosis of short stature. The authors presented evidence that the chondrodysplasia resulted from impaired growth plate chondrocyte hypertrophic differentiation, a process essential for normal linear growth.
Molecular Genetics
In 3 unrelated patients with Ververi-Brady syndrome (VERBRAS; 617982), Ververi et al. (2018) identified de novo heterozygous nonsense or frameshift mutations in the QRICH1 gene (617387.0001-617387.0003). The mutations were found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in haploinsufficiency.
In an 8-year-old girl with VERBRAS, Lui et al. (2019) identified a de novo heterozygous nonsense mutation in the QRICH1 gene (R536X; 617387.0004). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Lui et al. (2019) also identified an 11-year-old boy in the DECIPHER database (Firth et al., 2009) with features of VERBRAS syndrome and a de novo nonsense mutation in the QRICH1 gene (R511X). Neither variant was present in the gnomAD database. In vitro studies showed that the R536X variant resulted in decreased protein expression, suggesting haploinsufficiency.
INHERITANCE \- Autosomal dominant GROWTH Other \- Intrauterine growth retardation (in some patients) \- Poor overall growth (in some patients) HEAD & NECK Head \- Microcephaly (-6 SD) (in 1 patient) Face \- Dysmorphic facial features, variable \- Smooth philtrum Ears \- Low-set ears \- Cupped ears Eyes \- Ptosis \- Hypertelorism \- Upslanting palpebral fissures Nose \- Prominent nose \- Broad nose \- Broad nasal tip \- Long columella Mouth \- Thin upper lip \- Protruding lower lip \- Wide mouth MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed global development, mild \- Intellectual disability, mild \- Speech delay \- Intention tremor (1 patient) \- Unsteady gait (1 patient) Peripheral Nervous System \- Hyporeflexia Behavioral Psychiatric Manifestations \- Autistic features LABORATORY ABNORMALITIES \- Transiently increased serum creatine kinase (in some patients) MISCELLANEOUS \- Onset in infancy or first years of life \- Three unrelated patients have been reported (last curated May 2018) \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the glutamine-rich protein 1 gene (QRICH1, 617387.0001 ) ▲ 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
|
VERVERI-BRADY SYNDROME
|
c4693824
| 27,772 |
omim
|
https://www.omim.org/entry/617982
| 2019-09-22T15:44:09 |
{"omim": ["617982"]}
|
Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Diffuse neonatal hemangiomatosis
|
c0474965
| 27,773 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2123
| 2021-01-23T18:35:34 |
{"gard": ["1861"], "icd-10": ["Q82.8"]}
|
A rare syndrome with 46,XX disorder of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Müllerian aplasia and hyperandrogenism
|
c2675014
| 27,774 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247768
| 2021-01-23T17:03:41 |
{"mesh": ["C567186"], "omim": ["158330"], "umls": ["C2675014"], "icd-10": ["Q51.8"], "synonyms": ["Müllerian duct failure and hyperandrogenism", "WNT4 deficiency"]}
|
## Description
Susceptibility to lysis by alloreactive natural killer (NK) cells is an autosomal recessive trait (thus differing from the behavior of conventional MHC products) (Ciccone et al., 1990; Ciccone et al., 1990).
Mapping
Ciccone et al. (1990) mapped the locus for susceptibility to lysis by alloreactive natural killer cells, termed EC1, to chromosome 6. Ciccone et al. (1990) mapped it to the major histocompatibility complex region with its centromeric limit at BF (138470). Ciccone et al. (1990) raised the possibility that 'hybrid resistance' in mice (Hh-I) may be the homologous state and noted that the Hh-I alloantigens are recessively inherited and encoded in the murine MHC on chromosome 17.
Immunology \- Alloreactive natural killer cell lysis susceptibility Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS
|
c1848953
| 27,775 |
omim
|
https://www.omim.org/entry/272370
| 2019-09-22T16:21:57 |
{"omim": ["272370"], "synonyms": ["Alternative titles", "NATURAL KILLER CELL SUSCEPTIBILITY 1"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced encephalopathy-3 (IIAE3) is caused by heterozygous mutation in the RANBP2 gene (601181) on chromosome 2q12.
For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.
Clinical Features
Neilson et al. (2003) reported a large family in which 11 individuals over 3 generations were affected with an autosomal dominant form of acute necrotizing encephalopathy (ADANE) following febrile illnesses. The family had originally been reported by Eiben et al. (1965). The episodes characteristically occurred in early childhood (most before age 4 years) after a febrile illness. Affected members developed vomiting, seizures, spasticity, rigidity or abnormal posturing, altered mental status, and altered breathing patterns, usually leading to coma. Two patients died, 5 had residual neurologic impairment, and 4 had full recovery. Several affected members had residual weakness, seizures, gait abnormalities, speech disturbance, mental retardation, and mood disorders. Postmortem examination of 2 patients showed brain swelling and hemorrhagic lesions in the thalamus, putamen, and brainstem, as well as pallor of the neurons and myelinated tracts. Analysis of muscle respiration showed loose coupling of oxidative phosphorylation. Neilson et al. (2003) distinguished the disorder from Leigh syndrome (256000), which has a chronic course, but suggested that the pathologic mechanism in this disorder may also involve abnormalities in oxidative phosphorylation. Disease penetrance was estimated at 40%, and recurrent episodes occurred in half of affected individuals.
Neilson et al. (2009) reported 12 additional families with acute necrotizing encephalopathy (ANE). Specific infectious agents identified included influenza A, influenza, B, parainfluenza II, and Mycoplasma pneumoniae. Patients had a high incidence of seizures (59%), coma (100%), and CSF protein elevation (85%). Three patients had later onset at ages 12, 14, and 37 years, respectively. MRI changes showed variability, with classic involvement of the thalamus, brainstem, and pons, as well as the external capsule and claustrum (19 of 26 episodes), medial temporal lobe and limbic structures including amygdala, hippocampus, or medial temporal lobe (19 of 26), and spinal cord (3 of 26 episodes).
Gika et al. (2010) reported the clinical features of 1 of the patients reported by Neilson et al. (2009) who carried a heterozygous mutation in the RANBP2 gene (T585M; 601181.0001). This Caucasian girl presented at age 9 months with encephalopathy and seizures following a febrile illness. Brain MRI showed T2 signals in the thalami and the pons. She required ventilation for 10 days, but then made a slow and complete recovery both clinically and on brain imaging. At age 2 years, she presented with acute onset of right-sided sixth nerve palsy after a viral infection; brain CT was normal and the palsy resolved. She presented again at age 9 years with vomiting and decreased consciousness following a 3-day history of fever associated with influenza A. Her condition deteriorated and she progressed into a coma with hypotonia lasting several months. Brain MRI showed T2 signals similar to, but more extensive than, those seen on her first presentation. Two years after this illness, she was nonambulant and severely affected both neurologically and cognitively. The patient's mother, who also carried the mutation, had an episode of 'encephalitis/polyneuritis' at age 19 years following a viral infection and had a foot drop ever since. Neither of the mother's parents carried the mutation.
Lonnqvist et al. (2011) reported a 3-generation family in which 6 affected individuals with ANE had variable outcomes. Five patients had onset of episodes between age 7 months and 6 years; 1 had a single episode at age 12 years as a sequel to mumps. Two patients had recurrence in childhood. One patient had complete recovery, and 3 patients had recovery with only minor motor impairment, 1 of whom also developed seizures responsive to medication. A fifth patient, who had 2 episodes, was severely mentally retarded with intractable epilepsy at age 35, and a sixth patient had learning disabilities and severe visual impairment. All episodes were preceded by common viral infections. Brain MRI showed that the external capsule and mamillary bodies were affected in all, and the brainstem and thalami in 3. Most lesions resolved after the acute phase. Only 1 patient had cortical changes.
Inheritance
Infection-induced acute encephalopathy-3 is transmitted in an autosomal dominant pattern with reduced penetrance (Gika et al., 2010).
Mapping
By whole-genome mapping of the large affected family reported by Neilson et al. (2003), Neilson et al. (2004) identified a 6.5-Mb region containing the ADANE disease locus on chromosome 2q12.1-q13 (2-point lod score of 3.39 at D2S293). Further analysis showed cosegregation of a 5-marker haplotype, yielding a multipoint lod score of 3.6 across the interval. Sequence analysis showed no disease-causing mutations in 4 candidate genes in the interval: BCL2L11 (603827), ST6GalIII (608472), CHT1, and FLJ20019.
Molecular Genetics
In affected members of 10 unrelated families with acute necrotizing encephalopathy, including the family reported by Neilson et al. (2003, 2004), Neilson et al. (2009) identified a heterozygous mutation in the RANBP2 gene (T585M; 601181.0001). Haplotype analysis did not support a founder effect. Two additional families were found to carry different heterozygous mutations in the RANBP2 gene (601181.0002 and 601181.0003). Neilson et al. (2009) concluded that mutations in the RANBP2 gene predispose to ANE, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required. Four more affected families did not carry RANBP2 mutations, indicating genetic heterogeneity.
Lonnqvist et al. (2011) identified the heterozygous T585M mutation in 6 affected members of a 3-generation Finnish family with ANE.
INHERITANCE \- Autosomal dominant RESPIRATORY \- Altered breathing patterns during acute episodes NEUROLOGIC Central Nervous System \- Encephalopathy, acute, sudden-onset after febrile illness \- Coma \- Seizures \- Extensor posturing \- Gaze deviation \- Hypertonia \- Altered breathing patterns \- Variable outcome after acute illness \- Spastic quadriplegia, residual mild-to-severe (in some patients) \- Mental retardation, residual mild-to-severe (in some patients) \- T2-weighted MRI shows hyperintensities in the thalamus, basal ganglia, and brainstem during acute illness (may later resolve) \- External capsule and claustrum may be involved \- Cellular necrosis \- Gliosis \- Hemorrhage \- Brain edema IMMUNOLOGY \- Usually precipitated by viral infection (influenza A, influenza B, parainfluenza II, and Mycoplasma pneumoniae) \- Often an infecting organism cannot be identified LABORATORY ABNORMALITIES \- Increased CSF protein during acute illness MISCELLANEOUS \- Onset usually in infancy or early childhood (9 months to 6 years) \- Onset in adolescence or adulthood has been reported \- Incomplete penetrance \- Half (50%) of affected patients have a recurrent episode with worse outcome \- Many patients recover normally \- May be fatal MOLECULAR BASIS \- Caused by mutation in the ran-binding protein 2 gene (RANBP2, {601181.0001)} ▲ 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
|
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
|
c2675556
| 27,776 |
omim
|
https://www.omim.org/entry/608033
| 2019-09-22T16:08:26 |
{"omim": ["608033"], "orphanet": ["88619"], "synonyms": ["Alternative titles", "ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO", "Recurrent acute necrotizing encephalopathy", "ADANE"], "genereviews": ["NBK258641"]}
|
Chromosome 10q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 10. The severity and the specific signs and symptoms depend on the size and location of the duplication and which genes are involved. Signs and symptoms that can be present in a person with a 10q duplication may include growth delay, short stature, a small head size, low muscle tone (hypotonia), developmental delay, and intellectual disability. Other signs and symptoms may include problems with the eyes, heart defects, unusual features of the hands and feet, distinctive facial features, cleft palate, and/or other birth defects.
Many 10q duplications in a child result from a chromosome rearrangement in one of the parents, called a balanced translocation (which usually causes no health problems). When a parent has a balanced translocation, the child may also have a loss of material from another chromosome (called a deletion). In some cases, a 10q duplication is not inherited and occurs sporadically when egg or sperm cells form, or shortly after the egg and sperm join together. A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality. Treatment is based on the signs and symptoms present in each person.
This page is meant to provide general information about 10q duplications. You can contact GARD if you have questions about a specific duplication on chromosome 10. 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
|
Chromosome 10q duplication
|
c2936831
| 27,777 |
gard
|
https://rarediseases.info.nih.gov/diseases/8630/chromosome-10q-duplication
| 2021-01-18T18:01:26 |
{"mesh": ["C537804"], "synonyms": ["Duplication 10q", "Trisomy 10q", "10q duplication", "10q trisomy", "Partial trisomy 10q"]}
|
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
## Epidemiology
Worldwide prevalence of this form of corneal dystrophy is not known. Cases have been reported in patients from India, Tunisia, Vietnam, Turkey, the USA and other countries, but most cases seem to be in Japan where prevalence is estimated to be 1/300,000.
## Clinical description
Lesions generally develop in the first or second decade of life. The clinical features include severe photophobia, tearing, a corneal foreign body sensation and severe progressive loss of vision.
## Etiology
Gelatinous drop-like corneal dystrophy is mostly caused by mutations in the TACSTD2 gene (1p32) encoding tumor-associated calcium signal transducer 2. More than 20 mutations have been reported but some patients have been found not to have a mutation in this gene, which suggests genetic heterogeneity.
## Diagnostic methods
Fusiform deposits similar to those in lattice corneal dystrophy (LCD, see this term) in the deeper stroma may be found by light microscopy.
## Genetic counseling
An autosomal recessive pattern of inheritance has been reported.
## Management and treatment
An unsatisfactory response has been observed to both lamellar keratoplasty (LKP) and penetrating keratoplasty (PK), as well as to a superficial keratectomy, since amyloid recurs in the graft within about 5 years.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Gelatinous drop-like corneal dystrophy
|
c0339273
| 27,778 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98957
| 2021-01-23T18:58:37 |
{"gard": ["9647"], "mesh": ["C535480"], "omim": ["204870"], "umls": ["C0339273"], "icd-10": ["H18.5"], "synonyms": ["GDCD", "Primary familial amyloidosis of the cornea", "Subepithelial amyloidosis of the cornea"]}
|
A median mandibular cyst is a type of cyst that occurs in the midline of the mandible, thought to be created by proliferation and cystic degeneration of resting epithelial tissue that is left trapped within the substance of the bone during embryologic fusion of the two halves of the mandible, along the plane of fusion later termed the symphysis menti. A true median mandibular cyst would therefore be classified as a non-odontogenic, fissural cyst. The existence of this lesion as a unique clinical entity is controversial,[1] and some reported cases may have represented misdiagnosed odontogenic cysts,[2] which are by far the most common type of intrabony cyst occurring in the jaws. It has also been suggested that the mandible develops as a bilobed proliferation of mesenchyme connected with a central isthmus. Therefore, it is unlikely that epithelial tissue would become trapped as there is no ectoderm separating the lobes in the first instance.[1]
## References[edit]
1. ^ a b Bouquot, Brad W. Neville, Douglas D. Damm, Carl M. Allen, Jerry E. (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 30–31. ISBN 0-7216-9003-3.
2. ^ Gardner, DG (February 1988). "An evaluation of reported cases of median mandibular cysts". Oral Surgery, Oral Medicine, and Oral Pathology. 65 (2): 208–13. doi:10.1016/0030-4220(88)90167-3. PMID 3278266.
* 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
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* 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
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* 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
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
|
Median mandibular cyst
|
c0266106
| 27,779 |
wikipedia
|
https://en.wikipedia.org/wiki/Median_mandibular_cyst
| 2021-01-18T18:41:28 |
{"umls": ["C0266106"], "wikidata": ["Q6806120"]}
|
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
## Epidemiology
BBS is a rare entity described in eleven patients to date.
## Clinical description
BBS presents with congenital generalized hypertrichosis, facial dysmorphism (typically with bilateral ectropion, absent or sparse eyebrows and lashes, hypertelorism/telecanthus, broad nasal bridge, bulbous nose, anteverted nostrils, macrostomia, thin lips and misshapen ears), hyperlaxity and redundancy of the skin with deep folds, nipple hypoplasia and absence of mammary glands. Teeth are present, but with overgrown gingiva. Dental abnormalities described include taurodontism, shovel-shaped incisors, delayed eruption of deciduous dentition and premature apical closure. Other less frequent findings include cleft palate, hearing loss, mild psychomotor delay and genital abnormalities.
## Etiology
Autosomal dominant and autosomal recessive transmission, as well as sporadic cases have been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Barber-Say syndrome
|
c1319466
| 27,780 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1231
| 2021-01-23T19:08:19 |
{"gard": ["819"], "mesh": ["C537908"], "omim": ["209885"], "umls": ["C1319466"], "icd-10": ["Q87.0"], "synonyms": ["Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"]}
|
Not to be confused with Bronze baby syndrome.
Gray baby syndrome
SpecialtyPediatrics
Diagnostic methodproper history taking, monitoring blood level of the drug.
Gray baby syndrome (also termed Gray or Grey syndrome) is a rare but serious side effect that occurs in newborn infants (especially premature babies) following the accumulation of antibiotic chloramphenicol.[1]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Toxic levels of chloramphenicol after 2–9 days result in: loss of appetite, vomiting, ashen gray color of the skin, Hypotension (low blood pressure), Cyanosis (blue discolouration of lips and skin), Hypothermia, Cardiovascular collapse, hypotonia, abdominal distension, irregular respiration and increased blood lactate.[2]
## Pathophysiology[edit]
Two pathophysiologic mechanisms are thought to play a role in the development of gray baby syndrome after exposure to the anti-microbial drug chloramphenicol. This condition is due to a lack of glucuronidation reactions occurring in the baby, thus leading to an accumulation of toxic chloramphenicol metabolites:[3]
1. The UDP-glucuronyl transferase enzyme system of infants, especially premature infants, is immature and incapable of metabolizing the excessive drug load.
2. Insufficient renal excretion of the unconjugated drug.
Insufficient metabolism and excretion of chloramphenicol leads to increased blood concentrations of the drug, causing blockade of the electron transport of the liver, myocardium, and skeletal muscles. Since the electron transport is an essential part of cellular respiration, its blockade can result in cell damage. In addition, the presence of chloramphenicol weakens the binding of bilirubin and albumin, so increased levels of the drug can lead to high levels of free bilirubin in the blood, resulting in brain damage or kernicterus.[2]
## Diagnosis[edit]
Gray baby syndrome should be suspected in a new born with abdominal distension, progressive pallid cyanosis, irregular respirations, and refusal to breastfeed. The cause of gray baby syndrome comes from the mother's use of an antibiotic, chloramphenicol, during pregnancy or breastfeeding. The presentation of symptoms can depend on the level of exposure of the drug to the baby. A broad diagnosis is usually needed for babies who present with cyanosis. Blood work is done to determine the level of serum chloramphenicol. Other tools used to help with diagnosis include CT scans, ultrasound, and electrocardiogram.[2]
This section needs expansion. You can help by adding to it. (March 2018)
## Prevention[edit]
The condition can be prevented by using chloramphenicol at the recommended doses and monitoring blood levels,[4][5][6] or alternatively, third generation cephalosporins can be effectively substituted for the drug, without the associated toxicity.[7]
If maternal use of chloramphenicol cannot be avoided, close monitoring of the baby's symptoms such as feeding difficulties, and blood work is recommended.[8]
## Treatment[edit]
Chloramphenicol therapy should be stopped immediately. Exchange transfusion may be required to remove the drug. Sometimes, phenobarbital to induce UDP-glucuronyltransferase enzyme is used.
## References[edit]
1. ^ McIntyre J, Choonara I (2004). "Drug toxicity in the neonate". Biol Neonate. 86 (4): 218–21. doi:10.1159/000079656. PMID 15249753.
2. ^ a b c Ed, Cummings; Ma, Edens (2020). "Gray Baby Syndrome". PubMed. PMID 28846297. Retrieved 2020-07-27.
3. ^ Brunton, Laurence L.; Lazo, John S.; Parker, Keith, eds. (2005). "Chapter 46. Protein Synthesis Inhibitors and Miscellaneous Antibacterial Agents". Goodman & Gilman's The Pharmacological Basis of Therapeutics (11th ed.). New York: McGraw-Hill. ISBN 0-07-142280-3.
4. ^ Feder H (1986). "Chloramphenicol: what we have learned in the last decade". South Med J. 79 (9): 1129–34. doi:10.1097/00007611-198609000-00022. PMID 3529436.
5. ^ Mulhall A, de Louvois J, Hurley R (1 January 1983). "Chloramphenicol toxicity in neonates: its incidence and prevention". British Medical Journal (Clinical research ed.). 287 (6403): 1424–7. doi:10.1136/bmj.287.6403.1424. PMC 1549666. PMID 6416440.
6. ^ Forster J, Hufschmidt C, Niederhoff H, Künzer W (1985). "[Need for the determination of chloramphenicol levels in the treatment of bacterial-purulent meningitis with chloramphenicol succinate in infants and small children]". Monatsschr Kinderheilkd. 133 (4): 209–13. PMID 4000136.
7. ^ Aggarwal, R; Sarkar, N; Deorari, AK; Paul, VK (Dec 2001). "Sepsis in the newborn". Indian journal of pediatrics. 68 (12): 1143–1147. doi:10.1007/BF02722932. PMID 11838570.
8. ^ National Toxicology Program (2011). "Chloramphenicol". Report on Carcinogens: Carcinogen Profiles. 12: 92–94. ISSN 1551-8280. PMID 21850123.
## Further reading[edit]
* Krasinski, K; Perkin, R; Rutledge, J (1 September 1982). "Gray Baby Syndrome Revisited". Clinical Pediatrics. 21 (9): 571–572. doi:10.1177/000992288202100910. PMID 7105617.
* Feigin RD, Cherry JD, Demmler-Harrison GJ, Kaplan SL, eds. (2009). "Ch.248. Antibacterial therapeutic agents". Feigin & Cherry's textbook of pediatric infectious diseases (6th ed.). Philadelphia, PA: Saunders/Elsevier. ISBN 1416040447.
## External links[edit]
Classification
D
* ICD-10: P93
* ICD-9-CM: 779.4
External resources
* MedlinePlus: 007049
* v
* t
* e
Conditions originating in the perinatal period / fetal disease
Maternal factors
complicating pregnancy,
labour or delivery
placenta
* Placenta praevia
* Placental insufficiency
* Twin-to-twin transfusion syndrome
chorion/amnion
* Chorioamnionitis
umbilical cord
* Umbilical cord prolapse
* Nuchal cord
* Single umbilical artery
presentation
* Breech birth
* Asynclitism
* Shoulder presentation
Growth
* Small for gestational age / Large for gestational age
* Preterm birth / Postterm pregnancy
* Intrauterine growth restriction
Birth trauma
* scalp
* Cephalohematoma
* Chignon
* Caput succedaneum
* Subgaleal hemorrhage
* Brachial plexus injury
* Erb's palsy
* Klumpke paralysis
Affected systems
Respiratory
* Intrauterine hypoxia
* Infant respiratory distress syndrome
* Transient tachypnea of the newborn
* Meconium aspiration syndrome
* Pleural disease
* Pneumothorax
* Pneumomediastinum
* Wilson–Mikity syndrome
* Bronchopulmonary dysplasia
Cardiovascular
* Pneumopericardium
* Persistent fetal circulation
Bleeding and
hematologic disease
* Vitamin K deficiency bleeding
* HDN
* ABO
* Anti-Kell
* Rh c
* Rh D
* Rh E
* Hydrops fetalis
* Hyperbilirubinemia
* Kernicterus
* Neonatal jaundice
* Velamentous cord insertion
* Intraventricular hemorrhage
* Germinal matrix hemorrhage
* Anemia of prematurity
Gastrointestinal
* Ileus
* Necrotizing enterocolitis
* Meconium peritonitis
Integument and
thermoregulation
* Erythema toxicum
* Sclerema neonatorum
Nervous system
* Perinatal asphyxia
* Periventricular leukomalacia
Musculoskeletal
* Gray baby syndrome
* muscle tone
* Congenital hypertonia
* Congenital hypotonia
Infections
* Vertically transmitted infection
* Neonatal infection
* rubella
* herpes simplex
* mycoplasma hominis
* ureaplasma urealyticum
* Omphalitis
* Neonatal sepsis
* Group B streptococcal infection
* Neonatal conjunctivitis
Other
* Miscarriage
* Perinatal mortality
* Stillbirth
* Infant mortality
* Neonatal withdrawal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Gray baby syndrome
|
c0270276
| 27,781 |
wikipedia
|
https://en.wikipedia.org/wiki/Gray_baby_syndrome
| 2021-01-18T19:07:05 |
{"umls": ["C0270276"], "icd-9": ["779.4"], "icd-10": ["P93"], "wikidata": ["Q374186"]}
|
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
|
c2749137
| 27,782 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247522
| 2021-01-23T16:59:36 |
{"mesh": ["C567595"], "omim": ["300455"]}
|
Palisaded encapsulated neuroma
Other namesSolitary circumscribed neuroma
Micrograph of a palisaded encapsulated neuroma
SpecialtyDermatology
Diagnostic methodHistopathology
Differential diagnosisNeurofibroma, basal cell carcinoma, melanocytic nevus, epidermoid cyst, skin appendage
TreatmentSurgical excision
Palisaded encapsulated neuroma (PEN) is a rare, benign cutaneous condition characterized by small, firm, non-pigmented nodules or papules.[1][2] They typically occur as a solitary (single) lesion near the mucocutaneous junction of the skin of the face, although they can occur elsewhere on the body.[3]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Gallery
* 5 See also
* 6 References
* 7 External links
## Symptoms[edit]
PEN tumours are always painless, solid masses felt on the skin that, due to their slow-growing nature, typically take many years to grow to a size where they are noticeable. There are never any symptoms associated with systemic disease.[2]
## Diagnosis[edit]
As mentioned previously, PEN is a benign, firm, flesh-coloured lesion that typically occurs in dermis of the skin of the face. The lesions are typically between 2–6mm and are slow-growing.[3][4]
On the face, the lesions can be found on the eyelid, nose and in the oral mucosa, however, the lesions can also occur on the shoulder, arm, hand, foot and the glans of the penis.[3]
PEN is diagnosed by clinical recognition of the lesion and on subsequent histologic examination. Typically, the lesions are suspected to be schwannomas or neurofibromas clinically with PEN being an incidental finding on histology.[3]
PEN is typically diagnosed in patients between the ages of 40 and 60 years and occurs more frequently in females than males. The diagnosis of PEN may be difficult, even with confirmatory histology, due to its histological similarities with schwannomas and neurofibromas. It is imperative that the correct diagnosis is made the misdiagnosis of a neurofibroma may lead to unnecessary further investigation into associated systemic syndromes such as neurofibromatosis type 1 or multiple endocrine neoplasia syndrome.[3][4]
The differential diagnosis for PEN includes a neurofibroma, basal cell carcinoma, melanocytic nevus, epidermoid cyst and a skin appendage.[3][2]
## Treatment[edit]
The only definitive treatment of PEN is surgical excision. Excision is curative and rarely recur.[3]
## Gallery[edit]
* * * * *
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ a b c Dubovy, Sander R.; Clark, Brian J. (2001-08-01). "Palisaded encapsulated neuroma (solitary circumscribed neuroma of skin) of the eyelid: report of two cases and review of the literature". British Journal of Ophthalmology. 85 (8): 949–951. doi:10.1136/bjo.85.8.949. ISSN 0007-1161. PMC 1724085. PMID 11466253.
3. ^ a b c d e f g Newman, Marissa D; Milgraum, Sandy (2008). "Palisaded Encapsulated Neuroma (PEN): An often misdiagnosed neural tumor". Derm Online J. 14 (7): 12 – via eScholarship.
4. ^ a b Narang, RamandeepSingh; Manchanda, AdeshS; Puri, Geetika (2015-07-01). "Palisaded encapsulated neuroma". Journal of Orofacial Sciences. 7 (2): 136. doi:10.4103/0975-8844.164308.
## External links[edit]
Classification
D
* ICD-10: D36.10
* ICD-9-CM: 215.9
* MeSH: D009442 D009463, D009442
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
|
Palisaded encapsulated neuroma
|
c0431126
| 27,783 |
wikipedia
|
https://en.wikipedia.org/wiki/Palisaded_encapsulated_neuroma
| 2021-01-18T18:45:54 |
{"umls": ["C0431126"], "wikidata": ["Q7127589"]}
|
For a phenotypic description of schizophrenia, see 181500.
Mapping
Among 282 pedigrees in the MRC Cytogenetics Registry, Edinburgh, with familial autosomal anomalies, St Clair et al. (1990) found 1 with 23 cases of mental and/or behavioral disorders. Of the 77 family members available for cytogenetic analysis, 34 were found to carry a balanced translocation t(1;11)(q43;q21). Psychiatric diagnoses had been recorded for 16 of the 34 members with the translocation compared with only 5 of the 43 without it. Lod scores (against chance linkage of the translocation with mental illness) were greatest when the mental disorders in the phenotype were restricted to schizophrenia, schizoaffective disorder, recurrent major depression, and adolescent conduct and emotional disorders. St Clair et al. (1990) suggested that the 11q21-q22 region may be the site of gene(s) predisposing to major mental illness. Earlier, Smith et al. (1989) had observed cosegregation of affective illness with an 11q22.3-9p22 translocation. A third independent observation of a chromosome 11 translocation associated with major psychosis was made by Holland and Gosden (1990), who reported a balanced 6q14.2;11q25 translocation segregating with a psychotic illness in a 3-generation family. The proband had had mild intellectual impairment and behavioral problems since childhood. In adult life he developed a psychosis that met DSM III criteria for schizoaffective disorder. His mother, who also carried the translocation, met DSM III criteria for paranoid schizophrenia. The proband's sister, who committed suicide, was a presumptive translocation carrier because both of her twin daughters carried the translocation. Although one of the twins had made a suicide attempt, neither had a psychotic illness at age 20. The proband's maternal uncle and aunt both carried the translocation, but neither had developed a psychosis by age 72 and 69, respectively. Several members of the family suffered psychiatric illness, but did not carry the translocation.
Su et al. (1993) failed to find cosegregation of allelic variation at the D2 dopamine receptor locus (DRD2; 126450) and 5 surrounding loci with schizophrenia in 112 small- to moderate-sized Irish families containing 2 or more members affected with schizophrenia or schizoaffective disorder. Wang et al. (1993) failed to find evidence for linkage to schizophrenia in 12 multiplex pedigrees using 16 markers spanning 130 cM on chromosome 11q that included all 3 reported translocations. Mulcrone et al. (1995) found no evidence for a schizophrenia susceptibility locus using 11q13-q24 markers in 5 multiplex Israeli families. Kalsi et al. (1995) obtained strongly negative lod scores for linkage in 23 multiplex kindreds using markers that spanned a 70-cM region of 11q, including both translocation sites and the candidate genes tyrosinase (TYR; 606933) and DRD2.
Fletcher et al. (1993) used immunomagnetic beads directed against human surface antigens to prepare translocation hybrids bracketing TYR and D11S388, which flank the translocation breakpoint at 11q21. Muir et al. (1995) prepared a library from microdissection of the schizophrenia-related translocation at 11q21. The same group (Evans et al., 1995) constructed a 3-cM YAC contig across a schizophrenia-related translocation breakpoint which they described on 11q14.3. In a case-control association study using polymorphic markers D1S1621 and D11S931 spanning the 11q14.3 schizophrenia-associated breakpoint, Wilson-Annan et al. (1997) found no evidence for a susceptibility locus.
Devon and Porteous (1997) demonstrated that the potential candidate gene encoding metabotropic glutamate receptor 5A lies at least 850 kb from the 11q21 schizophrenia-associated breakpoint. Levinson et al. (1998) found evidence (P less than 0.05) for a schizophrenia susceptibility locus on chromosome 11 (D11S2002) in a genomewide scan using 310 microsatellite DNA markers with average spacing of 11 cM in 269 individuals, 126 of whom had schizophrenia-related psychoses, from 43 pedigrees.
Yamada et al. (2004) performed a genomewide linkage disequilibrium analysis in 119 Japanese schizophrenic pedigrees (357 individuals) using 444 microsatellite markers and found that 14 markers demonstrated significant transmission distortion. By extended transmission of disequilibrium analysis on 80 independent complete trios (68 derived from initial pedigrees and 12 newly recruited trios), they identified 2 markers with continued association, D11S987 on 11q13.3 (p = 0.00009) and D16S423 on 16p13.3 (P = 0.002). After adding 26 new markers from the 11q11-q13 locus, 3-marker haplotype analysis showed evidence of association with schizophrenia, yielding a global p value of 0.022 for the most significant haplotype.
Chromosome 11q22 was first implicated in schizophrenia in a linkage study of 2 Japanese pedigrees in which positive lod scores between 1.0 and 1.5 were reported with marker D11S35 (Nanko et al., 1992). This was confirmed in a separate study of a large Canadian pedigree, in which a maximum lod score of 3.4 was obtained using the same genetic marker (Maziade et al., 1995). Gurling et al. (2001) also reported linkage at 11q23.3. Choudhury et al. (2007) reported fine mapping of a susceptibility gene in the 11q22-q24 region, determined on the basis of a University College London (UCL) sample of 496 cases and 488 supernormal controls. Confirmation was then performed by the study of an Aberdeen example consisting of 858 cases and 591 controls. Seven microsatellite or SNP markers localized within or near the FXYD6 (606683) gene showed empirically significant allelic associations with schizophrenia in the UCL sample. Several haplotypes were also found to be associated with schizophrenia; for example, Hap-F21, comprising markers rs10790212, rs4938445, and rs497768, was found to be associated with schizophrenia by a global permutation test (P = 0.002). Positive markers in the UCL sample were genotyped in the Aberdeen sample; 2 of these SNPs (rs4938445, rs497768) were found to be associated with schizophrenia in the Scottish sample (p = 0.044 and 0.037, respectively). Hap-F21 was associated with schizophrenia in the Aberdeen sample also (empirical P = 0.013). The FXYD6 gene encodes a protein called phosphohippolin that is highly expressed in regions of the brain and thought to be involved in schizophrenia. The protein functions by modulating the kinetic properties of Na,K-ATPase to the specific physiologic requirements of the tissue. Choudhury et al. (2007) concluded that etiologic basepair changes in FXYD6 or in associated promoter/control regions are likely to cause abnormal function or expression of phosphohippolin and increase genetic susceptibility to schizophrenia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
SCHIZOPHRENIA 2
|
c1864010
| 27,784 |
omim
|
https://www.omim.org/entry/603342
| 2019-09-22T16:13:06 |
{"omim": ["603342"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED"]}
|
A number sign (#) is used with this entry because this form of X-linked mental retardation (MRX19) is caused by mutation in the RPS6KA3 gene (300075).
Description
X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).
Clinical Features
Choo et al. (1984) reported a family with nonsyndromic X-linked mental retardation that did not show linkage to fragile X syndrome (300624) or to the F9 (300746) gene on chromosome Xq27.
Donnelly et al. (1994) reported follow-up on the family reported by Choo et al. (1984), which now included affected members from 4 generations. Affected boys had moderate mental retardation but no distinctive characteristics, no physical anomalies, and no specific neurologic disturbances. Three females were reported to be mildly retarded.
Merienne et al. (1999) restudied the family reported by Choo et al. (1984) and Donnelly et al. (1994). Two affected individuals, then 38 and 29 years old, had none of the facial, digital, or skeletal features or the abnormal posture or gait typical of Coffin-Lowry syndrome. Furthermore, both presented with very mild mental retardation, compatible with social autonomy.
### Clinical Variability
Field et al. (2006) reported 2 unrelated families with a clinical diagnosis of nonsyndromic X-linked mental retardation who were found to carry mutations in the RPS6KA3 gene. In 1 family, patients had coarse facial features, kyphoscoliosis, and some redundancy of palmar skin with horizontal creases, but no digital tapering or short stature. In the second family, the patients had short stature, hypertelorism, and a slightly full lower lip. However, in both families, these additional features were considered to be too mild for a diagnosis of Coffin-Lowry syndrome. Field et al. (2006) also reported affected males from a family in which CLS had been suspected based on coarse facial features and scoliosis in 1 of the males examined; however, the clinical features were considered atypical due to absence of significant scoliosis or digital changes in many of the affected males, and the intellectual disability was only mild to moderate.
Mapping
By linkage analysis of a family with X-linked mental retardation (Choo et al., 1984), Donnelly et al. (1994) found linkage to a 42-cM interval on chromosome Xp22 (Zmax of 3.58 at markers DXS207 and DXS987, and Zmax of 3.28 at DXS999). The locus was designated MRX19. The authors noted that 2 additional syndromic mental retardation syndromes, Coffin-Lowry and Partington syndrome (PRTS; 309510), also map to this region, suggesting that they may represent the same entity.
Molecular Genetics
In affected members of the MRX19 family reported by Choo et al. (1984) and Donnelly et al. (1994), Merienne et al. (1999) identified a mutation in the RPS6KA3 gene (R383W; 300075.0010). The R383W-mutant protein was notable in that the 5- to 6-fold decrease in kinase activity resulted in a milder phenotype compared to that observed in Coffin-Lowry syndrome. The findings demonstrated that 15 to 20% of RPS6KA3 activity is sufficient for normal signaling of the MAPK-RPS6KA3 pathway involved in skeletal development. Mutations in the RPS6KA3 gene were excluded from 2 additional families with nonspecific MRX (MRX2; 300428 and MRX21; 300143) mapping to the same region.
Field et al. (2006) identified 3 different mutations in the RPS6KA3 gene (see, e.g., 300075.0020-300075.0021) in affected members of 3 different families with nonsyndromic X-linked mental retardation. All 3 mutations affected the serine/threonine protein kinase domain, and Field et al. (2006) hypothesized that the mutant proteins had a small amount of residual activity, which likely explained the relatively mild phenotype.
Genotype/Phenotype Correlations
Field et al. (2006) noted that the mutations in their report and the mutation (300075.0011) reported by Manouvrier-Hanu et al. (1999) in a family with mild Coffin-Lowry syndrome were small in-frame deletions or missense mutations affecting the serine/threonine kinase domain. Field et al. (2006) hypothesized that the presence of a small amount of residual enzymatic activity may be sufficient to maintain normal osteoblast differentiation and ameliorate the skeletal phenotype associated with CLS. The level of residual enzymatic activity has also been linked to cognitive performance, with higher levels being associated with a higher level of intellectual function (Harum et al., 2001).
INHERITANCE \- X-linked dominant GROWTH Weight \- Low birth weight (in some patients) HEAD & NECK Head \- Prominent forehead Face \- Coarsening facial features with age Nose \- Broad nasal tip Mouth \- Thick columella \- Full lower lip Teeth \- Dental crowding SKELETAL Spine \- Kyphoscoliosis \- Scoliosis Hands \- Long hands Feet \- Long feet MUSCLE, SOFT TISSUES \- Reduced muscle tone \- Reduced muscle bulk NEUROLOGIC Central Nervous System \- Hypotonia \- Motor delay \- Speech delay \- Mental retardation, mild to moderate \- Learning disability, mild (in one female) MOLECULAR BASIS \- Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3, 300075.0010 ) ▲ 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
|
MENTAL RETARDATION, X-LINKED 19
|
c2931498
| 27,785 |
omim
|
https://www.omim.org/entry/300844
| 2019-09-22T16:19:30 |
{"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300844"], "orphanet": ["777"]}
|
Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.
## Epidemiology
Spain is the only country to have reported cases of this disease in the spring of 1981 and patients resided in fourteen Central and North West provinces. Almost 20,000 people have been recorded, with women under the age of 40 years being more frequently and severely affected than men.
## Clinical description
While TOS can affect all organs and vessels (such as the lungs, peripheral nerves, muscles, skin, digestive tract, liver and pancreas) the main outcome is fibrosis of the lumen of the vessels, skin, peripheral nerves and intestines. The disease course can be characterized by three clinical phases: i) the acute phase (lasting approximately 2 months) with a presentation of severe lung edema, eosinophilia, rash and myalgia, ii) the intermediate phase (2-3 months) with dysphagia, cramps, severe myalgia, skin edema, pulmonary hypertension, paresthesia, major vessel thromboembolism and severe weight loss, iii) the chronic phase, where the skin edema evolves to scleroderma, and the neuromuscular manifestations into paresis and paralysis due to polyneuropathy. Liver disease and fibrosis in major organs such as the pancreas and intestines are also present in patients with the poorest prognosis.
## Etiology
The cause of TOS is the consumption of commercial rapeseed oil denatured with 2% of aniline. It was originally sold for industrial use and during the epidemic of 1981 was marketed fraudulently for human consumption. It still remains unclear whether fatty acid esters of 3-(N-phenylamino)-1, 2-propanediol (PAP) can induce TOS or if they are simply markers of oil toxicity.
## Diagnostic methods
The diagnosis is based on clinical findings as there are no laboratory tests available.
## Differential diagnosis
In the initial phase, several interstitial lung diseases should be excluded. Differential diagnoses for the chronic phase of TOS include several autoimmune rare diseases such as idiopathic pulmonary arterial hypertension, scleroderma (see these terms) and inflammatory polyneuropathy. Myalgia-eosinophilia syndrome associated with tryptophan (see this term) is another differential diagnosis that should be considered.
## Management and treatment
No specific treatment is available. Major clinical features, such as lung edema at the earlier phase, can be treated with supportive measures at intensive care clinical units. Steroids are administered for some immunological manifestations, but they are not always effective. Certain major chronic features, such as pulmonary hypertension, are currently treated with modern vasodilators but many patients may require lung and cardiac transplantation. No effective treatments are available for scleroderma or neurological manifestations.
## Prognosis
The prognosis is highly variable. Of the 20,000 people affected, more than 300 died during the first few years and around 30% of survivors developed a chronic condition. Other TOS survivors can show a variety of symptoms such as muscle pain, cramps and asthenia, as well as increased cardiovascular risks, while others have recovered with no further health problems.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Toxic oil syndrome
|
c0409998
| 27,786 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227972
| 2021-01-23T17:29:02 |
{"umls": ["C0409998"]}
|
A number sign (#) is used with this entry because myeloperoxidase deficiency (MPOD) is caused by homozygous or compound heterozygous mutation in the myeloperoxidase gene (MPO; 606989) on chromosome 17q23.
Clinical Features
Lehrer and Cline (1969) found no detectable activity of the lysosomal enzyme myeloperoxidase in neutrophils and monocytes of a patient with disseminated candidiasis. Other granule-associated enzymes were normal. Leukocytes from one of the proband's sisters also showed no MPO activity. Leukocytes from the proband's 4 sons showed about one-third normal levels. The proband and his relatives had not experienced frequent or unusual bacterial infections. The incidence of candidiasis may be increased in persons with myeloperoxidase deficiency, and the ability of the leukocytes of affected persons to resist Candida in vitro may be reduced.
Salmon et al. (1970) demonstrated immunologically the absence of MPO protein, or at least the absence of cross-reacting material, in homozygotes. Eosinophil peroxidase (EPX; 131399), which is chemically distinct from MPO, was normal. Kitahara et al. (1981) found partial deficiency in heterozygotes; only 2 of these had serious infections (recurrent streptococcal cellulitis and aseptic meningitis).
Inheritance
Variable expression in families makes it difficult to interpret the genetics of the disorder (Cech et al., 1979). In the 17 cases reported by Cramer et al. (1982), autosomal recessive inheritance was proved in 7 cases and was considered likely in at least 8 others because of the presence of 2 or 3 deficient persons in the family.
Eosinophil peroxidase contributes to the peroxidase activity of blood leukocytes. Because EPX expression is normal in MPO-deficient subjects, eosinophil contamination can significantly contribute to peroxidase activity in leukocytes from family members of an MPO-deficient subject and thereby undermine correct interpretation of the inheritance pattern. To avoid this potential problem, Nauseef et al. (1998) used cytochemical, immunochemical, and genetic techniques to assess the inheritance pattern of MPO deficiency in 16 individuals from 5 unrelated kindreds. Each kindred had an index case with MPO deficiency caused by the R569W missense mutation (606989.0001). The analysis demonstrated that MPO deficiency was not inherited as a simple autosomal recessive trait. Most subjects were compound heterozygotes with respect to the R569W mutation and demonstrated a spectrum of phenotypes. The data demonstrated the broad phenotypic impact of compound heterozygosity on the expression and function of a multimeric protein such as MPO.
Clinical Management
The defective cellular immunity in this condition was restored to normal by transfusion of HLA identical leukocytes from a healthy brother (Valdimarsson et al., 1972). Immune responses remained normal after 17 months. Persistence of functionally competent grafted cells was considered the likely mechanism.
Population Genetics
Although previously considered to be rare, MPO deficiency was found by Parry et al. (1981), using automated flow cytometry, to have a frequency of 1 in several thousand.
Cramer et al. (1982) found reports of 17 cases of apparently primary MPO deficiency and reported a high frequency in the Friuli-Venezia Giulia region of northeastern Italy. A screening method identified 45 suspected subjects.
Nauseef (1988) reviewed the studies on the frequency of myeloperoxidase deficiency in apparently healthy populations, pointing out that this information was an unexpected dividend of the technology for performing differential counts automatically. The prevalence in the U.S. is on the order of 1 in 2,000.
Pathogenesis
By immunoautoradiography and other methods, Nauseef et al. (1983) found that partial MPO deficiency is characterized by the presence of electrophoretically and immunologically normal MPO in amounts about half that seen in PMNs of normal subjects. Completely MPO-deficient PMNs lacked MPO peptides; no CRM was found in the 5 unrelated subjects studied. Purified MPO is composed of 2 peptide subunits of 60,000 and 12,000 Da. Nauseef et al. (1983) concluded that since deficiency is associated with the absence of more than 1 peptide, the genetic defect may involve (a) failure to synthesize a single precursor peptide; (b) defective regulation of the synthesis of 2 separate peptides; or (c) an aberration in postsynthetic processing or packaging into azurophilic granules.
Stendahl et al. (1984) pointed out that patients lacking myeloperoxidase usually do not show any increased susceptibility to infection or altered inflammatory response. In a patient with generalized pustular psoriasis and complete MPO deficiency, they found that MPO-deficient neutrophils showed enhanced phagocytosis and exaggerated superoxide production on stimulation in vitro. They suggested that apart from being a potent antimicrobial system, the oxidizing activity of the MPO-H2O2-halide system may modulate the inflammatory response which otherwise could elicit inflammatory reactions and tissue injury.
Molecular Genetics
Using a cDNA probe for MPO in studies of 3 completely and 2 partially MPO-deficient persons, Nauseef (1989) found no evidence of major deletion or rearrangement of the MPO gene. Myeloid precursors in 1 patient contained normal amounts of an mRNA that was the same size as that for MPO in normal persons. Two different endonuclease digestion patterns were found in MPO-deficient subjects who were biochemically and phenotypically identical.
In 6 of 7 patients with myeloperoxidase deficiency, Nauseef et al. (1994) identified an arg569-to-trp mutation in the myeloperoxidase gene (606989.0001). The mutation was found in homozygosity in 1 patient and in heterozygosity in the others.
INHERITANCE \- Autosomal recessive HEMATOLOGY \- Decreased myeloperoxidase activity in neutrophils and monocytes IMMUNOLOGY \- Disseminated candidiasis LABORATORY ABNORMALITIES \- Absence of peroxidase staining in neutrophils and monocytes \- Normal eosinophil peroxidase activity MISCELLANEOUS \- Estimated frequency 1/2000-1/4000 individuals \- Majority of individuals are healthy MOLECULAR BASIS \- Caused by mutations in the myeloperoxidase gene (MPO, 606989.0001 ). ▲ 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
|
MYELOPEROXIDASE DEFICIENCY
|
c0398595
| 27,787 |
omim
|
https://www.omim.org/entry/254600
| 2019-09-22T16:24:40 |
{"mesh": ["C562864"], "omim": ["254600"], "orphanet": ["2587"], "synonyms": ["Alternative titles", "MPO DEFICIENCY"]}
|
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Oculocutaneous albinism type 6
|
c2676042
| 27,788 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370097
| 2021-01-23T18:27:57 |
{"mesh": ["C567300"], "omim": ["113750"], "icd-10": ["E70.3"], "synonyms": ["OCA6"]}
|
This article is about a type of uterine malformation in humans. For the mammalian bicornuate uterus and other forms, see Uterus.
Bicornuate uterus
Other namesbicornate uterus
A human bicornuate uterus
SpecialtyGynaecology
A bicornuate uterus or bicornate uterus (from the Latin cornū, meaning "horn"), is a type of mullerian anomaly in the human uterus, where there is a deep indentation at the fundus (top) of the uterus.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Epidemiology
* 5 In pregnancy
* 6 Effect on intrauterine device usage
* 7 References
* 8 External links
## Pathophysiology[edit]
Types of uterine malformations
A bicornuate uterus develops during embryogenesis. It occurs when the proximal (upper) portion of the paramesonephric ducts does not fuse, but the distal portion that develops into the lower uterine segment, cervix, and upper vagina fuses normally.[1]
## Diagnosis[edit]
Transvaginal ultrasonography showing a cross-section of a bicornuate uterus, with two cavities (or "horns") to the left and right, respectively. The one to the right contains a gestational sac.
Diagnosis of bicornuate uterus typically involves imaging of the uterus with 2D or 3D ultrasound, hysterosalpingography, or magnetic resonance imaging (MRI). On imaging, a bicornuate uterus can be distinguished from a septate uterus by the angle between the cornua (intercornual angle): less than 75 degrees in a septate uterus, and greater than 105 degrees in a bicornuate uterus. Measuring the depth of the cleft between the cornua (fundal cleft) may also assist in diagnosis; a cleft of over 1 centimetre (0.39 in) is indicative of bicornuate uterus.[2]
### Classification[edit]
Bicornuate uterus is typically classified based on whether or not the division extends to the external cervical os. Bicornuate uteri with a division above the os are called bicornuate unicollis and those with a divided os are called bicornuate bicollis.[2] There is a continuous range of the degree and location of the fusion of the paramesonephric ducts, and existence of a spectrum, rather than a fixed number of types corresponding to strict medical definitions. Two processes that occur during the embryonic development of the paramesonephric ducts — fusion and reabsorption — can be affected to different degrees.[3]
There is also a hybrid bicornuate uterus: External fundal depressions of variable depths associated with a septate uterus can be seen by laparoscopy, indicating the coexistence of the two anomalies. These cases are candidates for hysteroscopic metroplasty under appropriate sonographic and/or laparoscopic monitoring.[4]
An obstructed bicornuate uterus showing uni or bilateral obstruction might also be possible. The unilateral obstruction is more difficult to diagnose than the bilateral obstructive. A delay in the diagnosis can be problematic and compromise the reproductive abilities of those cases.[5]
## Treatment[edit]
Bicornuate uterus typically requires no treatment.[1] In those who do need treatment, metroplasty is the surgical correction of choice.[2] People who have recurrent miscarriage with no other explanation may benefit from surgery.[6]
## Epidemiology[edit]
The occurrence of all types of paramesonephric duct abnormalities in women is estimated around 0.4%.[7] A bicornuate uterus is estimated to occur in 0.1–0.6% of women in the US.[8] It is possible that this figure is an underestimate, since subtle abnormalities often go undetected.[citation needed] Some intersex individuals whose external genitalia are perceived as being male may nonetheless have a variably shaped uterus. Women exposed in utero to diethylstilbestrol (DES) are at risk for this abnormality.[citation needed]
## In pregnancy[edit]
A bicornuate uterus is an indication for increased surveillance of a pregnancy, though most people with a bicornuate uterus are able to have healthy pregnancies.[1] People with a bicornuate uterus are at an increased risk of recurrent miscarriage,[2][9] preterm birth,[2][10] malpresentation,[2][11] disruptions to fetal growth,[12] premature rupture of membranes, placenta previa and retained placenta (which can lead to postpartum hemorrhage).[13] This is due to the distortion of the normal shape of the uterus, distortion of the cervix leading to cervical insufficiency, or under-vascularization of the endometrium as the pregnancy requires more blood supply. In some cases, the nonpregnant horn can rupture during labor, necessitating emergency surgery.[13]
Fetuses developing in bicornuate uteri are more likely to present breech or transverse, with the fetal head in one horn and the feet in the other. This will often necessitate cesarean delivery. If the fetus is vertex (head down), the two horns may not contract in coordination, or the horn that does not contain the pregnancy may interfere with contractions and descent of the fetus, causing obstructed labor.[13]
## Effect on intrauterine device usage[edit]
Usage of intrauterine device (IUD) with copper requires one IUD in each horn to be effective in case of bicornuate uterus. The same practice is generally applied when using IUD with progestogen due to lack of evidence of efficacy with only one IUD.[14]Evidence is lacking regarding progestogen IUD usage for menorrhagia in bicornuate uterus, but a case report showed good effect with a single IUD.[15]
## References[edit]
1. ^ a b c Bauman, D. (2013). "Pediatric & Adolescent Gynecology". CURRENT Diagnosis & Treatment: Obstetrics & Gynecology. McGraw-Hill.
2. ^ a b c d e f Cunningham F, Leveno KJ, Bloom SL, Dashe JS, Hoffman BL, Casey BM, Spong CY (eds.). "Congenital Genitourinary Abnormalities". Williams Obstetrics (25 ed.). McGraw-Hill.
3. ^ Acién P, Acién M, Sánchez-Ferrer ML (2008). "Müllerian anomalies "without a classification": from the didelphys-unicollis uterus to the bicervical uterus with or without septate vagina". Fertil. Steril. 91 (6): 2369–75. doi:10.1016/j.fertnstert.2008.01.079. PMID 18367185.
4. ^ El Saman AM, Shahin AY, Nasr A, Tawfik RM, Saadeldeen HS, Othman ER, Habib DM, Abdel-Aleem MA (Nov 2012). "Hybrid septate uterus, coexistence of bicornuate and septate varieties: a genuine report". J Obstet Gynaecol Res. 38 (11): 1308–14. doi:10.1111/j.1447-0756.2012.01866.x. PMID 22612567. S2CID 6177612.CS1 maint: multiple names: authors list (link)
5. ^ El Saman AM, Nasr A, Tawfik RM, Saadeldeen HS (Aug 2011). "Müllerian duct anomalies: successful endoscopic management of a hybrid bicornuate/septate variety". J Pediatr Adolesc Gynecol. 24 (4): e89–92. doi:10.1016/j.jpag.2011.02.013. PMID 21514191.CS1 maint: multiple names: authors list (link)
6. ^ Hoffman BL, Schorge JO, Bradshaw KD, Halvorson LM, Schaffer JI, Corton MM (eds.). "Anatomic Disorders". Williams Gynecology (3 ed.).
7. ^ Byrne J, Nussbaum-Blask A, Taylor WS, et al. (2000). "Prevalence of Müllerian duct anomalies detected at ultrasound". Am. J. Med. Genet. 94 (1): 9–12. doi:10.1002/1096-8628(20000904)94:1<9::AID-AJMG3>3.0.CO;2-H. PMID 10982475.
8. ^ "Bicornuate Uterus - an overview | ScienceDirect Topics". www.sciencedirect.com. Retrieved 2021-01-04.
9. ^ Rackow BW, Arici A (2007). "Reproductive performance of women with müllerian anomalies". Curr. Opin. Obstet. Gynecol. 19 (3): 229–37. doi:10.1097/GCO.0b013e32814b0649. PMID 17495638. S2CID 5476966.
10. ^ Airoldi J, Berghella V, Sehdev H, Ludmir J (2005). "Transvaginal ultrasonography of the cervix to predict preterm birth in women with uterine anomalies". Obstet Gynecol. 106 (3): 553–6. doi:10.1097/01.AOG.0000173987.59595.e2. PMID 16135586. S2CID 22903707.
11. ^ Heinonen PK, Saarikoski S, Pystynen P (1982). "Reproductive performance of women with uterine anomalies. An evaluation of 182 cases". Acta Obstet Gynecol Scand. 61 (2): 157–62. doi:10.3109/00016348209156548. PMID 7113692. S2CID 72723061.
12. ^ Martı́Nez-Frı́As, María Luisa; Bermejo, Eva; Rodrı́Guez-Pinilla, Elvira; Frı́As, Jaime Luis (1998). "Congenital Anomalies in the Offspring of Mothers with a Bicornuate Uterus". Pediatrics. 101 (4): e10. doi:10.1542/peds.101.4.e10. PMID 9521976.
13. ^ a b c Pascali, Dante (2014). "Uterus and Vagina". Oxorn-Foote Human Labor & Birth, 6e.
14. ^ Amies Oelschlager, Anne-Marie; Debiec, Kate; Micks, Elizabeth; Prager, Sarah (2013). "Use of the Levonorgestrel Intrauterine System in Adolescents With Known Uterine Didelphys or Unicornuate Uterus". Journal of Pediatric and Adolescent Gynecology. 26 (2): e58. doi:10.1016/j.jpag.2013.01.029. ISSN 1083-3188.
15. ^ Acharya GP, Mills AM (July 1998). "Successful management of intractable menorrhagia with a levonorgestrel-releasing intrauterine device, in a woman with a bicornuate uterus". J Obstet Gynaecol. 18 (4): 392–3. doi:10.1080/01443619867263. PMID 15512123.
## External links[edit]
Classification
D
* ICD-10: Q51.3
* ICD-9-CM: 752.34
* DiseasesDB: 33376
* v
* t
* e
Female congenital anomalies of the genitalia, including Intersex and DSD
Internal
Uterine malformation
* Müllerian agenesis
* Cervical agenesis
* Unicornuate uterus
* Uterus didelphys
* Bicornuate uterus
* Uterine septum
* Arcuate uterus
Vagina
* Vaginal septum
* Vaginal hypoplasia
* Imperforate hymen
* Vaginal adenosis
* Cloacal exstrophy
* Vaginal atresia
External
* Clitoromegaly
* Progestin-induced virilization
* Pseudohermaphroditism
* True hermaphroditism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Bicornuate uterus
|
c0266387
| 27,789 |
wikipedia
|
https://en.wikipedia.org/wiki/Bicornuate_uterus
| 2021-01-18T18:52:01 |
{"umls": ["C0266387"], "icd-9": ["752.3"], "orphanet": ["180134"], "wikidata": ["Q2403166"]}
|
A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.
## Epidemiology
The prevalence of this disorder is unknown; however, the prevalence of the 17q21.31 deletion is approximately 1/55,000 individuals. The prevalence of single nucleotide variants (SNVs) in KANSL1 cannot be ascertained with precision owing to the limited number of cases identified thus far. Males and females are affected equally.
## Clinical description
Hypotonia is most evident between the neonatal period and infancy with poor sucking and slow feeding, but may persist throughout life. Feeding difficulties may require hospitalization and/or nasogastric tube feeding in some neonates. Tracheo/Laryngomalacia is a common feature. Global psychomotor developmental delay is noted in all individuals from an early age, although the level of developmental delay varies significantly. The majority of individuals with Koolen-de Vries syndrome (KdVS) function in the mild to moderate range of intellectual disability. Oral hypotonia and apraxia in infancy and preschool, associated with severely delayed speech development is one of the hall marks of KdVS. A history of epilepsy is noted in ~30-50% of all cases and other neurological problems may also be present. The facial dysmorphism is characterized by upslanted palpebral fissures, blepharophimosis, epicanthal folds, ptosis, a pear-shaped nose with bulbous nasal tip, and large / protruding ears. Short stature, pectus excavatum, spine anomalies, dislocation of the hip(s), long slender fingers and slender lower limbs, and positional deformities of the hands/feet have been reported. Other features include heart defects (bicuspid aortic valve, atrial and ventricular septal defects), kidney and urologic anomalies, and cryptorchidism.
## Etiology
KdVS is typically a sporadic disorder caused either by a 17q21.31 deletion encompassing the KAT8 regulatory NSL complex subunit 1 (KANSL1) gene or a mutation of the KANSL1 gene.
## Diagnostic methods
Molecular genetic testing approaches can include a combination of chromosomal microarray (CMA), a multigene panel, and comprehensive genomic testing (exome sequencing, exome array, genome sequencing). In individuals with normal CMA results, targeted Sanger sequencing of the KANSL1-gene testing can be considered based on the clinical findings.
## Differential diagnosis
Differential diagnoses include Prader-Willi syndrome in the neonatal period and 22q11.2 deletion syndrome, fragile X syndrome, Angelman syndrome and blepharophimosis-intellectual disability syndrome, SBBYS type in older patients.
## Antenatal diagnosis
Almost all cases correspond to a single occurrence in a family, but prenatal testing can be offered for at risk pregnancies.
## Genetic counseling
Genetic counseling should be proposed to parents of affected individuals. Whilst almost all affected individuals represent simplex cases (i.e., a single affected individuals in the family) with a very small risk of sibling recurrence, the pattern of inheritance is autosomal dominant and thus the risk to offspring of affected individuals inheriting KdVS is 50%
## Management and treatment
Affected individuals should have routine examinations by the primary care physician and pediatrician. Cardiac investigations, and kidney and urologic evaluations are warranted. Speech production requires intensive motor speech treatment in preschool years and language development requires focused intervention and augmentative (sign language) or alternative (communication device) support until oral speech and language develops. Regular check up by a dermatologist can be considered in case of multiple nevi. Referral to other specialists is indicated if neurological or other systemic problems are suspected.
## Prognosis
Longitudinal data are insufficient to determine life expectancy, although survival into adulthood is typical, autonomy is likely to be limited and affected individuals will probably require life-long support from caregivers.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Koolen-De Vries syndrome
|
c1864871
| 27,790 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96169
| 2021-01-23T18:34:39 |
{"gard": ["10727"], "mesh": ["C566476"], "omim": ["610443"], "umls": ["C1864871"], "icd-10": ["Q93.5"], "synonyms": ["KdVS"]}
|
A number sign (#) is used with this entry because of evidence that peeling skin syndrome-4 (PSS4) is caused by homozygous mutation in the CSTA gene (184600) on chromosome 3q21.
For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).
Clinical Features
Hatsell et al. (2003) reported 2 related Bedouin families in which 5 individuals had peeling skin of the hands and feet as well as generalized dry scaling skin over the remainder of the body. The authors considered the disorder to be a new variant of congenital exfoliative ichthyosis. The phenotype shared some features with ichthyosis bullosa of Siemens (IBS; 146800) and annular epidermolytic ichthyosis (607602), and clinical distinction seemed difficult. However, the histologic, ultrastructural, and genetic features in the affected members of the Bedouin families distinguished the ichthyosis from previously reported ichthyoses. Ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. The prominent well-demarcated areas of denuded skin in moist and traumatized regions resembled the 'mauserung' phenomenon of IBS. Unlike IBS, the disorder lacked epidermolysis on histologic examination. Electron microscopy revealed a prominent intercellular edema and numerous aggregates of keratin filaments in basal keratinocytes. The level of cleavage could not be determined by histologic examination or electron microscopy. Abnormal keratin-1 (KRT1; 139350) expression was seen in the affected epidermis; however, all other keratins, including K2e (KRT2; 600194), had a distribution comparable to that seen in normal controls. The mode of inheritance was consistent with autosomal recessive transmission.
Blaydon et al. (2011) studied the Bedouin kindred with exfoliative ichthyosis originally reported by Hatsell et al. (2003) and a Turkish family with a similar phenotype. Affected individuals in both families presented shortly after birth with dry, scaly skin over most of the body and coarse peeling of nonerythematous hyperkeratotic skin on the palms and soles, which was exacerbated by excessive moisture and minor trauma. Electron microscopy of skin biopsies from both families revealed mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes, indicating that skin peeling was initiated by weakness in keratinocyte attachment at the basal and lower suprabasal level. A detailed view of cell-cell contacts showed a loss in number and tightness of the desmosomes in the basal layer compared to the upper epidermal layers and a partial loosening of their intercellular interaction.
Pavlovic et al. (2012) described a large Jordanian American family in which 10 members had an acral form of peeling skin syndrome. The proband was a 24-year-old man with a lifelong history of peeling skin on his hands and feet that worsened with exposure to heat, friction, perspiration, or water, and was also associated with pruritus. Acral skin could be easily peeled with light rubbing, leaving tender, superficial erosions that usually healed within 2 to 3 days; however, peeling recurred in the same or adjacent areas. Examination revealed erythematous, sharply demarcated, fine, scaling patches on the palms, soles, fingers, and toes that also affected the dorsal surfaces. Adjacent to the areas of scaling, asymmetric superficial erosions were seen. There was no vesiculation, and nails appeared normal. An 18-year-old sister exhibited similar acral skin peeling, and a family history of at least 8 other affected individuals was established. Histology of patient epidermis showed orthohyperkeratosis, with fine basophilic granules in some areas of the granular layer. Several layers of normal corneocytes were seen above the granular layer, but above these layers, there were approximately 20 layers of loosely packed, less densely stained, swollen cells resembling shadow cells. Above the edematous zone, several layers of normal-appearing corneocytes were present. The cleavage predominantly occurred in the edematous zone and also in the immediate subcorneal area. The spinous and basal layers, dermoepidermal junction, and dermis were unremarkable. Ultrastructurally, some cells of the granular layer showed small electron-lucent holes adjacent to normal-appearing tonofibrils and dense areas. The clear zone on light microscopy (shadow cells) demonstrated swollen cells with loosely assembled filament bundles. Occasional globular deposits were found between the corneocytes. There were numerous areas in which separation occurred between the corneocytes, as well as cytolysis and fragmentation of keratin filaments. Adjacent to areas of intercellular cleavage, cell-to-cell adhesion was firmly maintained by completely preserved, normal-appearing desmosomes.
Moosbrugger-Martinz et al. (2015) reported a 25-year-old Iranian man, born of first-cousin parents, who had congenital erythroderma, hyperhidrosis, and diffuse palmoplantar hyperkeratosis with coarse peeling of the skin. Examination showed symmetric diffuse yellowish palmoplantar hyperkeratosis with transgression to the dorsal aspects of the hands and feet. Peeling of skin was observed on the hands, feet, and distal extremities, leaving behind well-demarcated denuded areas with subjacent erythema and erosions. Generalized fine scaling, lichenification over the elbows, and hyperkeratosis of the knees were also present. Hair, nails, and teeth were normal. A 33-year-old sister exhibited similar, but milder, skin features. Histology of sole and ankle skin showed mild orthohyperkeratosis, a prominent granular layer, and mild spongiosis in the spinous layer, but no signs of epidermolytic hyperkeratosis, and only mild dermal inflammation. Electron microscopy of ankle skin showed normal corneodesmosomes, mild intercellular edema in the spinous layer but not in the basal layer, normal-appearing desmosomes, prominent keratin filaments within the basal keratinocytes, and reduced cornified envelope thickness. Barrier abnormalities were indicated by disturbed lamellar lipid organization in the stratum corneum with nonlamellar electron-dense material and vesicular contents, premature and inhomogeneous lamellar body secretion, and delayed processing of secreted lamellar body contents. These findings correlated with slightly elevated transepidermal water loss levels.
Mapping
By linkage analysis in a large Bedouin pedigree with congenital exfoliative ichthyosis, Hatsell et al. (2003) found suggestive linkage to chromosome 12q13. Blaydon et al. (2011) performed high-resolution homozygosity mapping in 2 affected individuals from the same Bedouin pedigree and identified a large block of homozygosity on chromosome 3q21 between SNPs rs6783609 and rs6438966. Analysis of the SNP data revealed no significant blocks of shared homozygosity on chromosomal region 12q13; linkage to 3q21 was confirmed by genotyping microsatellite markers across the region.
Molecular Genetics
In a consanguineous Bedouin kindred with autosomal recessive exfoliative ichthyosis mapping to chromosome 3q21, originally reported by Hatsell et al. (2003), Blaydon et al. (2011) identified homozygosity for a splice site mutation in the candidate gene CSTA (184600.0001) that segregated with disease in the family and was not detected in 300 control chromosomes. In affected members of a Turkish family with a similar phenotype of exfoliative ichthyosis, Blaydon et al. (2011) identified homozygosity for a nonsense mutation in CSTA (184600.0002).
In a patient with an acral form of peeling skin syndrome from a large Jordanian American family that was originally reported by Pavlovic et al. (2012) and in which no mutation was found in the TGM5 (603805), CDSN (602593), KRT14 (148066), or KRT5 (148040) genes, Krunic et al. (2013) performed whole-exome sequencing and identified a homozygous nonsense mutation in the CSTA gene (K22X; 184600.0003). The mutation, which was located in a 20-Mb region of homozygosity, segregated with disease in the family. Krunic et al. (2013) noted considerable overlap between the features in their patients diagnosed with acral PSS and those in patients diagnosed with exfoliative ichthyosis who also carried homozygous mutations in CSTA (Blaydon et al., 2011), and suggested that the different diagnoses represented differences in clinical description rather than in disease pathophysiology.
By direct sequencing of candidate genes in a 25-year-old Iranian man with generalized peeling skin and diffuse palmoplantar hyperkeratosis, Moosbrugger-Martinz et al. (2015) excluded mutation in TGM5 and identified homozygosity for a nonsense mutation in the CSTA gene (R58X; 184600.0004). The authors noted that histology in this patient showed an attenuated cornified cell envelope and epidermal barrier impairment, without prominent intercellular edema in the basal layer as previously observed in patients with CSTA mutations (Blaydon et al., 2011); rather, skin biopsy showed mild intercellular edema primarily in the spinous layer.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Well-circumscribed peeling of the skin on the extremities and neck (easily elicited by moisture and minor trauma) \- Generalized dry skin with fine scaling and sparing of face (in some patients) \- Hyperkeratosis \- Lichenification \- Erythematous affected skin (in some patients) \- Tenderness in areas of eroded skin (in some patients) \- Palmoplantar keratoderma Skin Histology \- Orthokeratosis, nonspecific basket-weave \- Acanthosis (in some patients) \- Multiple layers of loosely packed, less densely stained, swollen cells in the stratum corneum (in some patients) \- Cleavage within stratum corneum and immediate subcorneal layer (in some patients) \- Thickened granular zone \- Mild spongiosis \- Mild perivascular lymphocytic infiltrate in the upper dermis \- Keratin-1 (K1) staining restricted to the spinous layer Electron Microscopy \- Reduced cornified envelope thickness \- Separation between corneocytes (in some patients) \- Cytolysis and fragmentation of keratin filaments in corneocytes (in some patients) \- Disturbed lamellar lipid organization in the stratum corneum (in some patients) \- Swollen cells with loosely assembled filament bundles in the stratum lucidum (in some patients) \- Electron-lucent holes in some cells of granulary layer (in some patients) \- Mild intercellular edema of the spinous cell layer (in some patients) \- Prominent intercellular edema of the basal and suprabasal cell layers (in some patients) \- Electron-dense aggregates of keratin filaments in basal keratinocytes (in some patients) Nails \- Onychodystrophy, mild, of the toenails (rare) Hair \- Normal MOLECULAR BASIS \- Caused by mutation in the cystatin A gene (CSTA, 184600.0001 ) ▲ 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
|
PEELING SKIN SYNDROME 4
|
c1838440
| 27,791 |
omim
|
https://www.omim.org/entry/607936
| 2019-09-22T16:08:30 |
{"mesh": ["C563978"], "omim": ["607936"], "orphanet": ["289586"], "synonyms": ["Alternative titles", "ICHTHYOSIS BULLOSA OF SIEMENS-LIKE", "ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE"]}
|
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
X-linked Charcot-Marie-Tooth disease type 4
|
c0795910
| 27,792 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101078
| 2021-01-23T17:26:07 |
{"gard": ["1240"], "mesh": ["C536450"], "omim": ["310490"], "umls": ["C0795910"], "icd-10": ["G60.0"], "synonyms": ["CMT4X", "CMTX4", "Cowchock syndrome"]}
|
Merciful anosmia is a condition in which the person is unaware of a foul smell emanating from his own nose.[1][2] This condition is seen in atrophic rhinitis. In atrophic rhinitis, the turbinates, venous sinusoids, seromucinous glands and nerves undergo atrophy, resulting in a foul smelling discharge. As the nerve fibres sensing smell are also atrophied, the patient is unable to appreciate the foul smell.
## References[edit]
1. ^ Dhingra, P.L (2010). Diseases of the Ear, Nose and Throat. New Delhi: Elsevier. p. 170. ISBN 9788131223642.
2. ^ "Atrophic rhinitis". PG Blazer. Retrieved 14 March 2013.
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Merciful anosmia
|
None
| 27,793 |
wikipedia
|
https://en.wikipedia.org/wiki/Merciful_anosmia
| 2021-01-18T18:41:17 |
{"wikidata": ["Q16969096"]}
|
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Cutaneous mastocytosis
|
c1136033
| 27,794 |
gard
|
https://rarediseases.info.nih.gov/diseases/7842/cutaneous-mastocytosis
| 2021-01-18T18:01:01 |
{"mesh": ["D034701"], "orphanet": ["66646"], "synonyms": ["Mastocytoma"]}
|
Trichomegaly
SpecialtyDermatology
Trichomegaly is a congenital condition in which the eyelashes are abnormally long,[1] greater than 12mm in the central area and 8mm in the peripheral. The term was first used by H. Gray in 1944 in a publication in the Stanford Medical Bulletin,[2] though he was only the third person to characterize the disorder; the first two reports were published in German in 1926 and 1931 by Reiter and Bab, respectively.[3] Gray suggested the use of the term "movie lashes" to describe this condition, for long lashes were at the time being portrayed in film as a desirable characteristic in women.
## Contents
* 1 Etiology
* 1.1 Congenital Syndromes
* 1.2 Acquired disorders
* 1.3 Drugs
* 2 Diagnosis
* 3 See also
* 4 References
## Etiology[edit]
There are several causal agents for this disorder; these can be divided into three main categories and include the following:[4]
### Congenital Syndromes[edit]
* Oliver–McFarlane syndrome
* Cornelia de Lange Syndrome
* Cone-rod dystrophy
* Tetralogy of Fallot
* Hermansky–Pudlak syndrome
* Goldstein Hutt Syndrome
* Phylloid hypomelanosis
### Acquired disorders[edit]
* Areata alopecia
* Connective tissue disorders, such as
* Lupus
* Dermatomyositis
* Hen fever
* Atopic dermatitis
* HIV/AIDS
* Renal metastatic Adenocarcinoma
* Eating disorders, such as Anorexia nervosa
* Pregnancy
### Drugs[edit]
* Prostaglandin analogues
* Cetuximab
* Bimatoprost, Latanoprost
* Phenytoin
* Minoxidil
* Ciclosporin
* Topiramate
* Streptomycin
* Systemic corticosteroids
* Penicillamine
## Diagnosis[edit]
This section is empty. You can help by adding to it. (July 2018)
## See also[edit]
* Trichomycosis axillaris
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1010. ISBN 978-1-4160-2999-1.
2. ^ Paul, Laura J.; Cohen, Philip R.; Kurzrock, Razelle (2012-06-01). "Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes". International Journal of Dermatology. 51 (6): 631–646. doi:10.1111/j.1365-4632.2011.05315.x. ISSN 1365-4632. PMID 22607279.
3. ^ Ziakas, N. G.; Jogiya, A.; Michaelides, M. (2004-01-30). "A case of familial trichomegaly in association with oculocutaneous albinism type 1". Eye. 18 (8): 863–864. doi:10.1038/sj.eye.6701326. ISSN 0950-222X. PMID 14752500.
4. ^ Fernández-Crehuet, Pablo; Ruiz-Villaverde, Ricardo (2016). "Essential Trichomegaly of the Eyelashes". International Journal of Trichology. 8 (3): 153–154. doi:10.4103/0974-7753.189031. ISSN 0974-7753. PMC 5007925. PMID 27625571.
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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
|
Trichomegaly
|
c0854699
| 27,795 |
wikipedia
|
https://en.wikipedia.org/wiki/Trichomegaly
| 2021-01-18T18:40:17 |
{"umls": ["C0854699"], "orphanet": ["411788"], "wikidata": ["Q7840841"]}
|
Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Neuroleptic malignant syndrome
|
c0027849
| 27,796 |
gard
|
https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome
| 2021-01-18T17:58:45 |
{"mesh": ["D009459"], "umls": ["C0027849"], "orphanet": ["94093"], "synonyms": []}
|
A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
Limbic encephalitis with NMDA receptor antibodies
|
c4274344
| 27,797 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217253
| 2021-01-23T17:41:03 |
{"icd-10": ["G13.1"], "synonyms": ["Limbic encephalitis with N-methyl-D-aspartate receptor antibodies"]}
|
Deletion of the short arm of chromosome 18
18p-
Other namesPartial monosomy 18p, de Grouchy syndrome type 1
In situ hybridization. 18p (green) and 18q (red) with subtelomeric probes showing 18p deletion in the patient with De Grouchy syndrome type I (deletion 18p)
SpecialtyMedical genetics
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Congenital anomalies
* 1.2 Neurologic
* 1.3 Vision
* 1.4 Ear and Sinus Infections
* 1.5 Hearing
* 1.6 Gastrointestinal
* 1.7 Genitourinary
* 1.8 Orthopedics
* 1.9 Endocrinology
* 1.10 Psychiatry
* 1.11 Cognition and adaptive skills
* 1.12 Dysmorphology
* 2 Genetics
* 3 Diagnosis
* 3.1 MRI
* 4 Treatment
* 5 Names
* 6 Research
* 7 References
* 8 External links
## Signs and symptoms[edit]
Cebocephaly, a form of holoprosencephaly, in two unrelated infants with 18p-
18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints.[2]
### Congenital anomalies[edit]
About 10-15% of individuals with 18p- have holoprosencephaly.
Approximately 10% of people with 18p- have a congenital heart anomaly. There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. Septal defects, tetralogy of Fallot, dextrocardia, and coarctation of the aorta have all been reported in infants with 18p-.
### Neurologic[edit]
Hypotonia is frequently seen in the 18p- population. Seizures, though uncommon, have been reported in people with 18p-. Dystonia has also been diagnosed in a small minority of young adults with 18p-. Also, tethered cord has been reported in a few people with 18p-.
### Vision[edit]
Ptosis is quite common among people with 18p-. In many cases, surgical correction is required. Refractive errors, such as myopia, hyperopia, and astigmatism, are also prevalent. Strabismus has been reported in infants and children with 18p-. Nystagmus is also present in a minority of individuals.
### Ear and Sinus Infections[edit]
Children with 18p- have an increased incidence of ear infections, often requiring the placement of PE tubes.
### Hearing[edit]
Conductive hearing loss may occur due to otitis media.
### Gastrointestinal[edit]
Chronic constipation is a frequent complaint in the 18p- population. Other abdominal abnormalities that have been reported include inguinal hernias; malrotation of the gut; and abnormalities of the spleen.
### Genitourinary[edit]
Genitourinary abnormalities are not common in 18p-. There have been a few cases of small penis and cryptorchidism in males and uterine abnormalities in females.
### Orthopedics[edit]
There have been several orthopedic concerns identified in individuals with 18p-. These include pes planus, clubfoot, scoliosis and/or kyphosis, pectus abnormalities, cubitus valgus, congenital hip dysplasia, spina bifida occulta, and genu valgum.
### Endocrinology[edit]
Growth hormone deficiency has been reported in several individuals with 18p-, though not at the same frequency as in the distal 18q- population. Panhypopituitarism and hypothyroidism have each been diagnosed in a handful of individuals. Also, ketotic hypoglycemia has been reported in several individuals and usually presents itself around the age of three.
### Psychiatry[edit]
There is an increased incidence of psychiatric conditions within the distal 18p- population. In one study, 2 of 3 people with 18p- had an anxiety disorder, 1 of 3 had a communication disorder, and 1 of 3 had a motor skills disorders, and 1 of 3 had a stereotypic movement disorder. Additional research with a larger number of subjects is necessary to confirm these findings.
### Cognition and adaptive skills[edit]
Cognitive ability in individuals with 18p- varies widely, with most falling in the mild to moderate range of impairment, though there have been some reports of people with impairment in the severe to profound range. These individuals may have had holoprosencephaly, which is frequently associated with severe impairment.
Speech deficits are quite common within this population. Frequently, expressive speech lags behind other developmental parameters.
### Dysmorphology[edit]
Common facial features include a flat and broad nasal bridge; epicanthic folds; wide mouth; short philtrum; everted lower lip; small and slightly receding chin during childhood. The ears may be low-set and posteriorly rotated. The posterior hairline may be low.
## Genetics[edit]
18p- describes a deletion of the short arm of chromosome 18.[1] About half of the people with deletions have a breakpoint at the centromere. Those with it are said to have centromeric 18p-, and those without are said to have non-centromeric 18p-.
## Diagnosis[edit]
Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. Diagnosis of 18p- is usually made via a blood sample. A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by microarray analysis. Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible via amniocentesis of chorionic villus sampling.
### MRI[edit]
In some children without "classic" holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum.
## Treatment[edit]
At present, treatment for 18p- is symptomatic, meaning that the focus is on treating the signs and symptoms of the conditions as they arise. To ensure early diagnosis and treatment, it is suggested that people with 18p- undergo routine screenings for hearing and vision problems.
## Names[edit]
The preferred terminology for this condition is 18p-. In the past, it has been referred to as partial monosomy 18p and, rarely, as "de Grouchy syndrome, type 1".
## Research[edit]
Currently, research is focusing on identifying the role of the genes on 18p in causing the signs and symptoms associated with deletions of 18p. This will ultimately enable predictive genotyping.
TGIF-Mutations and deletions of this gene have been associated with holoprosencephaly. Penetrance is incomplete, meaning that a deletion of one copy of this gene is not in and of itself sufficient to cause holoprosencephaly. Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.
## References[edit]
1. ^ a b Turleau, Catherine (2008). "Monosomy 18p". Orphanet Journal of Rare Diseases. 3 (1): 4. doi:10.1186/1750-1172-3-4. ISSN 1750-1172. PMC 2265258.
2. ^ Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD (2015). "A review of 18p deletions". Am J Med Genet C Semin Med Genet. 169 (3): 251–64. doi:10.1002/ajmg.c.31445. PMID 26250845.
## External links[edit]
Classification
D
* OMIM: 146390
* MeSH: C538309 C538309, C538309
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
|
18p-
|
c0432442
| 27,798 |
wikipedia
|
https://en.wikipedia.org/wiki/18p-
| 2021-01-18T18:56:51 |
{"gard": ["8631"], "mesh": ["C538309"], "umls": ["C0432442"], "orphanet": ["1598", "261974"], "wikidata": ["Q4557543"]}
|
A number sign (#) is used with this entry because of evidence that multiple types of cataract (CTRCT21) are caused by heterozygous mutation in the MAF gene (177075) on chromosome 16q23.
Description
Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.
The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
Clinical Features
Jamieson et al. (2002) reported a family in which autosomal dominant juvenile-onset cataract segregated in 3 generations. The cataracts were cortical pulverulent opacities in a lamellar distribution. Nuclear pulverulent opacities were present in 2 cases. There was later progression with posterior subcapsular opacification that necessitated surgery in adult life. In addition to cataract, 2 of the 5 affected individuals had microcornea, and 1 also had bilateral iris colobomas.
Vanita et al. (2006) reported a 3-generation family in which 12 of 20 members had bilateral cataract; 6 affected individuals also had microcornea. The cataracts consisted of fine cerulean opacities occupying the superficial layer of lens fibers under the anterior and posterior capsule. The opacities varied in size, being larger toward the center where they were connected to the anterior and posterior sutures. The cataracts were progressive, with more prominent changes seen in older individuals. No coloboma or microphthalmia was observed in this family.
Hansen et al. (2007) studied a family in which 4 members spanning 3 generations had cataract and microcornea; 1 patient also had iris coloboma. The maternal grandmother had congenital cataracts that were surgically removed at 47 years of age; the mother had dense posterior polar cataracts diagnosed at 5 months of age, with surgery postponed to age 21 years because visual acuity was sufficient; and her 2 children had nuclear cataracts, which were described as dense zonular (lamellar) in the sister and 'star-shaped' in the brother. The mother also had iris coloboma of the right eye.
Narumi et al. (2014) reported a Japanese family in which 6 members spanning 3 generations had congenital cataract, 3 of whom also had microcornea; 1 patient exhibited iris coloboma. The 5-year-old male proband had lamellar cataracts diagnosed in the neonatal period, with removal at 3 months. He also exhibited delayed language development and was diagnosed with autism spectrum disorder (ASD; see 209850) at 4 years of age. Because he had abnormal lower incisors and a bifid uvula, Nance-Horan syndrome (NHS; 302350) was suspected, but analysis of the NHS gene (300457) was negative. His mother and maternal grandmother had bilateral cataracts removed in childhood, and a maternal aunt and 2 cousins also had congenital cataracts. Other ocular features in this family included mild macular hypoplasia in 1 patient and retinal detachment in another.
Cytogenetics
Jamieson et al. (2002) identified a family in which ocular developmental abnormalities cosegregated with a translocation, t(5;16)(p15.3;q23.2), in both balanced and unbalanced forms. Individuals with the balanced translocation had juvenile-onset progressive cataracts, involving widespread pulverulent opacities with anterior and posterior sutural densities. Individuals with an unbalanced karyotype had a more severe ocular phenotype, including progression to total cataracts and severe myopia, opaque corneas, and Peters anomaly with microphthalmia; they also had dysmorphic facial features and developmental delay, and 1 died soon after birth due to laryngeal stenosis. Cloning the 16q23.2 breakpoint demonstrated that it transected the genomic-control domain of the MAF gene; in addition, it transected the common fragile site FRA16D (see 605131), providing a molecular demonstration of a germline break in a common fragile site.
Mapping
Vanita et al. (2006) performed linkage analysis in a 3-generation family segregating autosomal dominant cerulean congenital cataract, using DNA samples from 12 affected and 8 unaffected family members. A maximum lod score of 3.9 (theta = 0.0) was obtained with 3 markers on chromosome 16, D16S3049, D16S3040, and D16S511. Multipoint and haplotype analysis placed the cataract locus in a 15.3-cM region between markers D16S518 and D16S511 (maximum lod score, 3.612), corresponding 16q23.1.
Molecular Genetics
Through mutation screening of a panel of patients with hereditary congenital cataract, Jamieson et al. (2002) identified a missense mutation in the MAF gene (177075.0001) in affected members of a 3-generation family with autosomal dominant juvenile-onset cataract, some of whom also had microcornea.
In affected members of a 3-generation family with cerulean congenital cataract, some of whom also had microcornea, Vanita et al. (2006) sequenced the MAF gene and identified a heterozygous missense mutation in the MAF gene (177075.0002) that cosegregated with the disease. The mutation was not found in 106 unrelated controls.
In 3 families and 1 sporadic patient with congenital cataract and microcornea, Hansen et al. (2007) analyzed 13 lens-expressed cataract genes and identified heterozygosity for a missense mutation in the MAF gene (R299S; 177075.0003) in 4 affected members of a 3-generation family. The mutation, which segregated with disease in the family, was not found in 152 controls.
In a 3-generation Japanese family with congenital cataract with or without microcornea, Narumi et al. (2014) performed whole-exome sequencing and identified a heterozygous missense mutation in the MAF gene (Q303P; 177075.0004). The mutation, which segregated with disease in the family, was not found in 200 Japanese control alleles or in the NHLBI Exome Sequencing Project database.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Cataract, cortical pulverulent, juvenile-onset \- Cataract, congenital, cerulean \- Cataract, congenital, lamellar \- Cataract, congenital, anterior polar \- Cataract, congenital, posterior polar \- Cataract, nuclear \- Cataract, anterior subcapsular \- Cataract, stellate \- Microcornea (in some patients) \- Coloboma of iris (in some patients) \- Macular hypoplasia (rare) \- Retinal detachment (rare) MOLECULAR BASIS \- Caused by mutation in the v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF, 177075.0001 ) ▲ 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
|
CATARACT 21, MULTIPLE TYPES
|
c1857768
| 27,799 |
omim
|
https://www.omim.org/entry/610202
| 2019-09-22T16:04:57 |
{"doid": ["0110256"], "mesh": ["C565703"], "omim": ["610202"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": ["Alternative titles", "CATARACT, CONGENITAL, CERULEAN TYPE, 4", "CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA", "CATARACT, PULVERULENT, JUVENILE-ONSET"]}
|
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